doid.owl
type: Ontology
has_obo_format_version: 1.2
date: 05:02:2016 16:27
auto-generated-by: OBO-Edit 2.3.1
comment: This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/.
default-namespace: disease_ontology
saved-by: elvira
version IRI: doid.owl

definition
type: AnnotationProperty

DO MGI slim
type: AnnotationProperty
comment: DO_MGI_slim
sub property of: subset_property

DO cancer slim
type: AnnotationProperty
comment: DO cancer slim
sub property of: subset_property

DO rare slim
type: AnnotationProperty
comment: DO_rare_slim
sub property of: subset_property

GOLD
type: AnnotationProperty
comment: GOLD
sub property of: subset_property

NCIthesaurus
type: AnnotationProperty
comment: NCIt
sub property of: subset_property

TopNodes DOcancerslim
type: AnnotationProperty
comment: TopNodes_DOcancerslim
sub property of: subset_property

gram-negative bacterial infectious disease
type: AnnotationProperty
comment: gram-negative bacterial infectious disease
sub property of: subset_property

gram-positive bacterial infectious disease
type: AnnotationProperty
comment: gram-positive bacterial infectious disease
sub property of: subset_property

sexually transmitted infectious disease
type: AnnotationProperty
comment: sexually transmitted infectious disease
sub property of: subset_property

tick-borne infectious disease
type: AnnotationProperty
comment: tick-borne infectious disease
sub property of: subset_property

zoonotic infectious disease
type: AnnotationProperty
comment: zoonotic infectious disease
sub property of: subset_property

subset_property
type: AnnotationProperty

has_alternative_id
type: AnnotationProperty

database_cross_reference
type: AnnotationProperty

has_exact_synonym
type: AnnotationProperty

has_narrow_synonym
type: AnnotationProperty

has_obo_format_version
type: AnnotationProperty

has_obo_namespace
type: AnnotationProperty

has_related_synonym
type: AnnotationProperty

in_subset
type: AnnotationProperty

complicated_by
type: ObjectProperty
id: complicated_by
has_obo_namespace: disease_ontology

composed_of
type: ObjectProperty
definition: Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types.
id: composed_of
has_obo_namespace: disease_ontology

Axiom
annotated target: Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types.
database_cross_reference: DO:lh
annotated property: definition
annotated source: composed_of

derives_from
type: ObjectProperty
definition: Type of tissue or cell/the source of the material.
id: derives_from
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: DO:lh
annotated target: Type of tissue or cell/the source of the material.
annotated property: definition
annotated source: derives_from

has_material_basis_in
type: ObjectProperty
has_obo_namespace: disease_ontology
id: has_material_basis_in

has_symptom
type: ObjectProperty
has_obo_namespace: disease_ontology
id: has_symptom

inheres_in
type: ObjectProperty
has_obo_namespace: disease_ontology
id: inheres_in

is_a
type: ObjectProperty
has_obo_namespace: disease_ontology
id: is_a

located_in
type: ObjectProperty
definition: Anatomical location.
has_obo_namespace: disease_ontology
id: located_in

Axiom
annotated target: Anatomical location.
database_cross_reference: DO:lh
annotated property: definition
annotated source: located_in

occurs_with
type: ObjectProperty
has_obo_namespace: disease_ontology
id: occurs_with

part_of
type: ObjectProperty
has_obo_namespace: disease_ontology
id: part_of

realized_by
type: ObjectProperty
has_obo_namespace: disease_ontology
id: realized_by

realized_by_supression_with
type: ObjectProperty
has_obo_namespace: disease_ontology
id: realized_by_supression_with

results_in
type: ObjectProperty
definition: Development process/cause and effect/disease progress,process.
has_obo_namespace: disease_ontology
id: results_in

Axiom
database_cross_reference: DO:lh
annotated target: Development process/cause and effect/disease progress,process.
annotated property: definition
annotated source: results_in

results_in_formation_of
type: ObjectProperty
definition: Formation of structure,cancer,etc./cause and effect.
has_obo_namespace: disease_ontology
id: results_in_formation_of

Axiom
database_cross_reference: DO:lh
annotated target: Formation of structure,cancer,etc./cause and effect.
annotated property: definition
annotated source: results_in_formation_of

transmitted_by
type: ObjectProperty
definition: Pathogen is transmitted.
has_obo_namespace: disease_ontology
id: transmitted_by

Axiom
database_cross_reference: DO:lh
annotated target: Pathogen is transmitted.
annotated property: definition
annotated source: transmitted_by

angiosarcoma
type: Class
subclass of: sarcoma
definition: A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
id: DOID:0001816
has_alternative_id: DOID:267
has_alternative_id: DOID:4508
database_cross_reference: MSH:D006394
database_cross_reference: NCI:C3088
database_cross_reference: NCI:C9275
database_cross_reference: SNOMEDCT_US_2015_03_01:33176006
database_cross_reference: SNOMEDCT_US_2015_03_01:39000009
database_cross_reference: SNOMEDCT_US_2015_03_01:403977003
database_cross_reference: UMLS_CUI:C0018923
database_cross_reference: UMLS_CUI:C0854893
has_obo_namespace: disease_ontology
has_exact_synonym: hemangiosarcoma
in_subset: NCIthesaurus

Axiom
annotated target: A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
database_cross_reference: url:http://emedicine.medscape.com/article/276512-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Hemangiosarcoma
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23327728
annotated source: angiosarcoma
annotated property: definition

pterygium
type: Class
subclass of: corneal disease
creation date: 2010-06-30T02:44:30Z
id: DOID:0002116
database_cross_reference: ICD10CM:H11.0
database_cross_reference: ICD10CM:H11.00
database_cross_reference: ICD10CM:H11.009
database_cross_reference: ICD9CM:372.4
database_cross_reference: ICD9CM:372.40
database_cross_reference: MSH:D011625
database_cross_reference: SNOMEDCT_US_2015_03_01:155165000
database_cross_reference: SNOMEDCT_US_2015_03_01:193879003
database_cross_reference: SNOMEDCT_US_2015_03_01:193884009
database_cross_reference: SNOMEDCT_US_2015_03_01:77489003
database_cross_reference: UMLS_CUI:C0033999
has_obo_namespace: disease_ontology
created by: laronhughes

disease of metabolism
type: Class
subclass of: DOID 4
definition: A disease that involving errors in metabolic processes of building or degradation of molecules.
id: DOID:0014667
database_cross_reference: ICD10CM:E88.9
database_cross_reference: ICD9CM:277.9
database_cross_reference: MSH:D008659
database_cross_reference: NCI:C3235
database_cross_reference: SNOMEDCT_US_2015_03_01:154733004
database_cross_reference: SNOMEDCT_US_2015_03_01:190961002
database_cross_reference: SNOMEDCT_US_2015_03_01:267456000
database_cross_reference: SNOMEDCT_US_2015_03_01:30390004
database_cross_reference: SNOMEDCT_US_2015_03_01:75934005
database_cross_reference: UMLS_CUI:C0025517
has_obo_namespace: disease_ontology
has_exact_synonym: metabolic disease
in_subset: NCIthesaurus

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:75934005
annotated target: metabolic disease
annotated source: disease of metabolism
annotated property: has_exact_synonym

Axiom
annotated target: A disease that involving errors in metabolic processes of building or degradation of molecules.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK22259/
annotated source: disease of metabolism
annotated property: definition

Actinomadura madurae infectious disease
type: Class
id: DOID:0050001
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Actinomadura pelletieri infectious disease
type: Class
id: DOID:0050002
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Streptomyces somaliensis infectious disease
type: Class
id: DOID:0050003
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

seminal vesicle acute gonorrhea
type: Class
subclass of: gonococcal seminal vesiculitis
id: DOID:0050004
database_cross_reference: SNOMEDCT_US_2015_03_01:301990003
database_cross_reference: UMLS_CUI:C0578661
has_obo_namespace: disease_ontology

cutaneous strongyloidiasis
type: Class
definition: A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas.
id: DOID:0050007
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm
annotated source: cutaneous strongyloidiasis
annotated property: definition

intestinal strongyloidiasis
type: Class
definition: A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.
id: DOID:0050009
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh
annotated source: intestinal strongyloidiasis
annotated property: definition

Mansonella perstans infectious disease
type: Class
definition: A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease.
id: DOID:0050010
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm
annotated source: Mansonella perstans infectious disease
annotated property: definition

Mansonella streptocerca infectious disease
type: Class
definition: A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease.
id: DOID:0050011
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm
annotated source: Mansonella streptocerca infectious disease
annotated property: definition

chikungunya
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
has_exact_synonym: Chikungunya fever
id: DOID:0050012
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chikungunya_virus
annotated source: chikungunya
annotated property: definition

carbohydrate metabolism disease
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
id: DOID:0050013
has_obo_namespace: disease_ontology

Axiom
annotated target: An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
annotated source: carbohydrate metabolism disease
annotated property: definition

epizootic hemorrhagic disease
type: Class
definition: A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum.
id: DOID:0050014
has_related_synonym: EHD
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum.
database_cross_reference: url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf
annotated source: epizootic hemorrhagic disease
annotated property: definition

Rocio virus encephalitis
type: Class
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome.
id: DOID:0050015
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome.
database_cross_reference: url:http://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/17622628
database_cross_reference: url:http://www.scielo.br/pdf/rsp/v20n3/01.pdf
annotated source: Rocio virus encephalitis
annotated property: definition

Ehrlichia ewingii ehrlichiosis
type: Class
id: DOID:0050024
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

human granulocytic anaplasmosis
type: Class
subclass of: ehrlichiosis
definition: An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
has_alternative_id: DOID:0050021
has_alternative_id: DOID:0050022
id: DOID:0050025
has_related_synonym: HGE
has_obo_namespace: disease_ontology
has_exact_synonym: human granulocytic ehrlichiosis
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease

Axiom
annotated target: An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
database_cross_reference: url:http://emedicine.medscape.com/article/235839-overview
annotated source: human granulocytic anaplasmosis
annotated property: definition

human monocytic ehrlichiosis
type: Class
subclass of: ehrlichiosis
definition: An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
id: DOID:0050026
has_alternative_id: DOID:14091
has_related_synonym: Ehrlichiosis chafeensis
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease

Axiom
annotated target: An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
database_cross_reference: url:http://emedicine.medscape.com/article/235839-overview
annotated source: human monocytic ehrlichiosis
annotated property: definition

mineral metabolism disease
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that is characterized by abnormal mineral metabolism.
id: DOID:0050032
has_obo_namespace: disease_ontology

Axiom
annotated target: An acquired metabolic disease that is characterized by abnormal mineral metabolism.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
annotated source: mineral metabolism disease
annotated property: definition

African tick-bite fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
has_alternative_id: DOID:0050034
id: DOID:0050035
has_alternative_id: DOID:0050036
has_exact_synonym: Rickettsia africae spotted fever
has_obo_namespace: disease_ontology
has_exact_synonym: south african tick-bite fever
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
database_cross_reference: url:http://jcm.asm.org/cgi/reprint/42/2/816
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: African tick-bite fever
annotated property: definition

Astrakhan spotted fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
id: DOID:0050041
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Astrakhan spotted fever
annotated property: definition

Indian tick typhus
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
id: DOID:0050042
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
database_cross_reference: url:http://www.biomedcentral.com/1471-2180/5/11
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Indian tick typhus
annotated property: definition

Israeli tick typhus
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
id: DOID:0050043
has_related_synonym: Israeli spotted fever
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
database_cross_reference: url:http://www.biomedcentral.com/1471-2180/5/11
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Israeli tick typhus
annotated property: definition

Far Eastern spotted fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
id: DOID:0050046
has_exact_synonym: Rickettsia heilongjiangensis spotted fever
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:www.cdc.gov/eid/content/16/8/pdfs/1306.pdf
annotated source: Far Eastern spotted fever
annotated property: definition

Flinders Island spotted fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
id: DOID:0050047
has_alternative_id: DOID:0050048
has_related_synonym: FISF
has_exact_synonym: Thai tick typhus
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
database_cross_reference: url:http://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Flinders Island spotted fever
annotated property: definition

Japanese spotted fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
has_alternative_id: DOID:0050049
id: DOID:0050050
has_exact_synonym: Rickettsia japonica spotted fever
has_obo_namespace: disease_ontology
has_exact_synonym: oriental spotted fever
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf
annotated source: Japanese spotted fever
annotated property: definition

Rickettsia parkeri spotted fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
id: DOID:0050051
has_obo_namespace: disease_ontology
has_exact_synonym: maculatum infection
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Rickettsia parkeri spotted fever
annotated property: definition

Rocky Mountain spotted fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
has_related_synonym: Brazillian spotted
has_related_synonym: Choix
id: DOID:0050052
has_alternative_id: DOID:0050056
has_alternative_id: DOID:1708
has_related_synonym: Exanthematic typhus of Sao Paulo
has_related_synonym: Fiebre maculosa
has_related_synonym: Fiebre manchada
has_related_synonym: Sao Paulo typhus
has_related_synonym: So Paulo fever
has_related_synonym: Tick typhus
has_related_synonym: Tobia fever
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Rocky Mountain spotted fever
annotated property: definition

Rickettsia honei spotted fever
type: Class
id: DOID:0050053
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease

oropharyngeal anthrax
type: Class
subclass of: DOID_13386
definition: A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite.
id: DOID:0050059
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite.
database_cross_reference: url:http://emedicine.medscape.com/article/212127-overview#a0104
annotated source: oropharyngeal anthrax
annotated property: definition

erysipeloid
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
id: DOID:0050061
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
database_cross_reference: url:http://emedicine.medscape.com/article/1054170-overview
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001656/
annotated source: erysipeloid
annotated property: definition

abortive plague
type: Class
id: DOID:0050063
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

cutaneous listeriosis
type: Class
id: DOID:0050065
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Listeria meningoencephalitis
type: Class
id: DOID:0050066
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Listeria septicaemia
type: Class
id: DOID:0050067
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

pestis minor
type: Class
subclass of: bubonic plague
definition: A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
id: DOID:0050068
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
database_cross_reference: url:www.cfsph.iastate.edu/Factsheets/pdfs/plague.pdf
annotated source: pestis minor
annotated property: definition

Yersinia pestis infectious disease
type: Class
id: DOID:0050069
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

plague meningitis
type: Class
id: DOID:0050070
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

adiaspiromycosis
type: Class
subclass of: primary systemic mycosis
definition: A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
id: DOID:0050072
has_obo_namespace: disease_ontology

Axiom
annotated target: A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
database_cross_reference: url:http://www.chestjournal.org/content/97/5/1171.abstract
database_cross_reference: url:http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract
annotated source: adiaspiromycosis
annotated property: definition

invasive aspergillosis
type: Class
subclass of: DOID_13564
definition: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
id: DOID:0050073
has_obo_namespace: disease_ontology

Axiom
annotated target: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
database_cross_reference: url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm
annotated source: invasive aspergillosis
annotated property: definition

tonsillar aspergillosis
type: Class
definition: An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.
id: DOID:0050074
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/792373
annotated source: tonsillar aspergillosis
annotated property: definition

pulmonary blastomycosis
type: Class
definition: A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules.
id: DOID:0050075
has_alternative_id: DOID:0050076
has_alternative_id: DOID:0050077
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules.
database_cross_reference: url:http://chestjournal.chestpubs.org/content/121/3/677.full
annotated source: pulmonary blastomycosis
annotated property: definition

cervix tuberculosis
type: Class
id: DOID:0050078
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

niacin deficiency
type: Class
id: DOID:0050079
has_obo_namespace: disease_ontology
deprecated: true

iodine deficiency
type: Class
id: DOID:0050080
has_obo_namespace: disease_ontology
deprecated: true

hepatic Torque teno virus infectious disease
type: Class
definition: A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.
has_alternative_id: DOID:0050081
id: DOID:0050082
has_exact_synonym: TT virus liver infection
has_exact_synonym: Transfussion-transmitted virus liver infection
has_obo_namespace: disease_ontology
has_related_synonym: human circovirus infectious disease
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.
database_cross_reference: url:https://www.doria.fi/bitstream/handle/10024/36074/humantor.pdf?sequence=1
annotated source: hepatic Torque teno virus infectious disease
annotated property: definition

Keshan disease
type: Class
subclass of: DOID 5113
id: DOID:0050083
has_obo_namespace: disease_ontology

obsolete rhinotracheitis
type: Class
definition: An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
id: DOID:0050084
has_exact_synonym: Feline viral rhinotracheitis
has_obo_namespace: disease_ontology
has_exact_synonym: feline coryza
has_exact_synonym: feline influenza
deprecated: true
comment: Not a human disease.

Axiom
annotated target: An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
annotated source: obsolete rhinotracheitis
annotated property: definition

entomophthoromycosis
type: Class
definition: A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.
id: DOID:0050085
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm
annotated source: entomophthoromycosis
annotated property: definition

cutaneous mucormycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.
id: DOID:0050086
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm
annotated source: cutaneous mucormycosis
annotated property: definition

gastrointestinal mucormycosis
type: Class
definition: A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.
id: DOID:0050088
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16020690
annotated source: gastrointestinal mucormycosis
annotated property: definition

pulmonary mucormycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.
id: DOID:0050089
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.
database_cross_reference: url:http://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf
database_cross_reference: url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4
annotated source: pulmonary mucormycosis
annotated property: definition

rhinocerebral mucormycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures.
id: DOID:0050090
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures.
database_cross_reference: url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html
annotated source: rhinocerebral mucormycosis
annotated property: definition

disseminated paracoccidioidomycosis
type: Class
definition: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.
id: DOID:0050091
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/
annotated source: disseminated paracoccidioidomycosis
annotated property: definition

pulmonary paracoccidioidomycosis
type: Class
definition: A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss.
id: DOID:0050092
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/
annotated source: pulmonary paracoccidioidomycosis
annotated property: definition

disseminated sporotrichosis
type: Class
definition: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
id: DOID:0050093
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sporotrichosis
annotated source: disseminated sporotrichosis
annotated property: definition

lymphocutaneous sporotrichosis
type: Class
definition: A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.
id: DOID:0050094
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.
database_cross_reference: url:http://emedicine.medscape.com/article/228723-overview
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/
annotated source: lymphocutaneous sporotrichosis
annotated property: definition

pulmonary sporotrichosis
type: Class
definition: A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.
id: DOID:0050095
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sporotrichosis
annotated source: pulmonary sporotrichosis
annotated property: definition

tinea barbae
type: Class
subclass of: DOID 7
subclass of: DOID 8913
definition: A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
id: DOID:0050096
has_exact_synonym: dermatophytosis of beard
has_obo_namespace: disease_ontology

Axiom
annotated target: A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
database_cross_reference: url:http://emedicine.medscape.com/article/1091252-overview
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/Tinea_barbae.htm
annotated source: tinea barbae
annotated property: definition

ectothrix infectious disease
type: Class
subclass of: DOID 4337
definition: A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
id: DOID:0050097
has_obo_namespace: disease_ontology

Axiom
annotated target: A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
database_cross_reference: url:http://emedicine.medscape.com/article/1091351-overview
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm
annotated source: ectothrix infectious disease
annotated property: definition

Microsporum audouinii tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.
id: DOID:0050098
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html
annotated source: Microsporum audouinii tinea capitis
annotated property: definition

Microsporum canis tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis.
id: DOID:0050099
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html
annotated source: Microsporum canis tinea capitis
annotated property: definition

Microsporum distortum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals.
id: DOID:0050100
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html
annotated source: Microsporum distortum tinea capitis
annotated property: definition

Microsporum ferrugineum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum.
id: DOID:0050101
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html
annotated source: Microsporum ferrugineum tinea capitis
annotated property: definition

Microsporum gypseum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions.
id: DOID:0050102
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions.
database_cross_reference: url:http://archderm.highwire.org/cgi/reprint/64/3/309.pdf
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html
annotated source: Microsporum gypseum tinea capitis
annotated property: definition

Microsporum nanum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans.
id: DOID:0050103
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans.
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/3756652.pdf
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html
annotated source: Microsporum nanum tinea capitis
annotated property: definition

Trichophyton verrucosum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum.
id: DOID:0050104
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html
annotated source: Trichophyton verrucosum tinea capitis
annotated property: definition

endothrix infectious disease
type: Class
subclass of: DOID 4337
definition: A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
id: DOID:0050105
has_obo_namespace: disease_ontology

Axiom
annotated target: A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/
annotated source: endothrix infectious disease
annotated property: definition

Trichophyton soudanense tinea capitis
type: Class
definition: An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense.
id: DOID:0050106
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html
annotated source: Trichophyton soudanense tinea capitis
annotated property: definition

Trichophyton tonsurans tinea capitis
type: Class
definition: An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions.
id: DOID:0050107
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html
annotated source: Trichophyton tonsurans tinea capitis
annotated property: definition

Trichophyton violaceum tinea capitis
type: Class
definition: An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots".
id: DOID:0050108
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots".
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html
annotated source: Trichophyton violaceum tinea capitis
annotated property: definition

Trichophyton schoenleinii tinea capitis
type: Class
definition: A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss.
id: DOID:0050110
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html
annotated source: Trichophyton schoenleinii tinea capitis
annotated property: definition

Microsporum fulvum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum.
id: DOID:0050111
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html
annotated source: Microsporum fulvum tinea capitis
annotated property: definition

Trichophyton megninii tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.
id: DOID:0050112
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.
database_cross_reference: url:http://emedicine.medscape.com/article/787217-overview
database_cross_reference: url:http://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm
annotated source: Trichophyton megninii tinea capitis
annotated property: definition

Trichophyton equinum tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.
id: DOID:0050113
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html
annotated source: Trichophyton equinum tinea capitis
annotated property: definition

Trichophyton yaoundei tinea capitis
type: Class
definition: An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions.
id: DOID:0050115
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Trichophyton
database_cross_reference: url:http://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf
annotated source: Trichophyton yaoundei tinea capitis
annotated property: definition

tinea imbricata
type: Class
subclass of: DOID_12179
definition: A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
id: DOID:0050116
has_obo_namespace: disease_ontology

Axiom
annotated target: A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata
annotated source: tinea imbricata
annotated property: definition

disease by infectious agent
type: Class
subclass of: DOID 4
definition: A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
id: DOID:0050117
has_alternative_id: DOID:10115
has_alternative_id: DOID:11078
has_alternative_id: DOID:1304
has_alternative_id: DOID:1321
has_alternative_id: DOID:2040
has_alternative_id: DOID:2288
has_alternative_id: DOID:3099
has_alternative_id: DOID:4120
has_alternative_id: DOID:4620
has_alternative_id: DOID:5256
has_alternative_id: DOID:945
has_alternative_id: DOID:95
has_alternative_id: DOID:9532
has_alternative_id: DOID:9696
database_cross_reference: ICD9CM:079.0
database_cross_reference: UMLS_CUI:C0001485
has_obo_namespace: disease_ontology
has_exact_synonym: infectious disease
in_subset: NCIthesaurus

Axiom
annotated target: A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
database_cross_reference: DO:wk
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726
annotated source: disease by infectious agent
annotated property: definition

La Crosse encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
has_exact_synonym: California Encephalitis
has_exact_synonym: California virus encephalitis
id: DOID:0050118
has_alternative_id: DOID:10840
database_cross_reference: ICD10CM:A83.5
database_cross_reference: ICD9CM:062.5
database_cross_reference: MSH:D004670
has_exact_synonym: Neuroinvasive California encephalitis virus infection
database_cross_reference: SNOMEDCT_US_2015_03_01:186588007
database_cross_reference: SNOMEDCT_US_2015_03_01:266103004
database_cross_reference: SNOMEDCT_US_2015_03_01:416442006
database_cross_reference: SNOMEDCT_US_2015_03_01:417075004
database_cross_reference: SNOMEDCT_US_2015_03_01:418531007
database_cross_reference: SNOMEDCT_US_2015_03_01:69627004
database_cross_reference: UMLS_CUI:C0014053
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: Neuroinvasive California encephalitis virus infection
database_cross_reference: SNOMEDCT_2005_07_31:417075004
annotated source: La Crosse encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: California Encephalitis
database_cross_reference: MTHICD9_2006:062.5
annotated source: La Crosse encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm
annotated source: La Crosse encephalitis
annotated property: definition

West Nile virus neurological syndrome
type: Class
definition: A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder.
id: DOID:0050119
has_exact_synonym: WNND
has_exact_synonym: WNNS
has_exact_synonym: West nile neuroinvasive disease
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder.
database_cross_reference: URL:http://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php
annotated source: West Nile virus neurological syndrome
annotated property: definition

hemophagocytic lymphohistiocytosis
type: Class
subclass of: DOID 75
definition: A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
id: DOID:0050120
has_alternative_id: DOID:6453
has_exact_synonym: HPS
has_related_synonym: Hemophagocytic lymphohistiocytosis, familial, 2
has_exact_synonym: Hemophagocytic syndrome
database_cross_reference: ICD10CM:D76.1
database_cross_reference: ICD9CM:288.4
database_cross_reference: MSH:D051359
database_cross_reference: NCI:C34792
database_cross_reference: NCI:C35439
database_cross_reference: OMIM:267700
database_cross_reference: OMIM:603552
database_cross_reference: OMIM:603553
database_cross_reference: OMIM:608898
database_cross_reference: OMIM:613101
database_cross_reference: SNOMEDCT_US_2015_03_01:127069007
database_cross_reference: SNOMEDCT_US_2015_03_01:190958003
database_cross_reference: SNOMEDCT_US_2015_03_01:234437005
database_cross_reference: UMLS_CUI:C0024291
comment: Xref MGI. MSH:C537250 added from NeuroDevNet [WAK].
has_obo_namespace: disease_ontology
has_exact_synonym: haemophagocytic syndrome
in_subset: DO MGI slim
in_subset: NCIthesaurus

Axiom
annotated target: A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis
database_cross_reference: url:http://www.mayoclinicproceedings.com/inside.asp?AID=57&UID=
database_cross_reference: url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso
annotated source: hemophagocytic lymphohistiocytosis
annotated property: definition

Axiom
annotated target: Hemophagocytic lymphohistiocytosis, familial, 2
database_cross_reference: MSH:C537250
annotated source: hemophagocytic lymphohistiocytosis
annotated property: has_related_synonym

Axiom
annotated target: Hemophagocytic syndrome
database_cross_reference: NCI2004_11_17:C35439
annotated source: hemophagocytic lymphohistiocytosis
annotated property: has_exact_synonym

tuberculous encephalitis
type: Class
id: DOID:0050123
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

dengue shock syndrome
type: Class
subclass of: DOID_12205
subclass of: DOID 37
definition: A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
id: DOID:0050125
has_exact_synonym: DSS
database_cross_reference: OMIM:614371
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome
database_cross_reference: url:http://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645
annotated source: dengue shock syndrome
annotated property: definition

Tahyna virus encephalitis
type: Class
definition: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
id: DOID:0050126
has_related_synonym: Tahyna virus infection
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: valtice fever
in_subset: zoonotic infectious disease

Axiom
annotated target: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
database_cross_reference: url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf
database_cross_reference: url:http://www.cdc.gov/eid/content/15/2/306.htm
annotated source: Tahyna virus encephalitis
annotated property: definition

sinusitis
type: Class
subclass of: DOID 1352
definition: A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
id: DOID:0050127
has_alternative_id: DOID:2052
has_alternative_id: DOID:9564
database_cross_reference: ICD10CM:J01
database_cross_reference: ICD10CM:J01.9
database_cross_reference: ICD10CM:J01.90
database_cross_reference: ICD9CM:461
database_cross_reference: ICD9CM:461.9
database_cross_reference: SNOMEDCT_US_2015_03_01:155498004
database_cross_reference: SNOMEDCT_US_2015_03_01:155501004
database_cross_reference: SNOMEDCT_US_2015_03_01:15805002
database_cross_reference: SNOMEDCT_US_2015_03_01:195649005
database_cross_reference: SNOMEDCT_US_2015_03_01:195653007
database_cross_reference: SNOMEDCT_US_2015_03_01:266378004
database_cross_reference: UMLS_CUI:C0149512
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus

Axiom
annotated target: A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null
annotated source: sinusitis
annotated property: definition

secretory diarrhea
type: Class
subclass of: DOID_13250
id: DOID:0050129
definition: Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
has_obo_namespace: disease_ontology

Axiom
annotated target: Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated source: secretory diarrhea
annotated property: definition

osmotic diarrhea
type: Class
subclass of: DOID_13250
id: DOID:0050130
definition: Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
has_obo_namespace: disease_ontology

Axiom
annotated target: Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated source: osmotic diarrhea
annotated property: definition

motility-related diarrhea
type: Class
subclass of: DOID_13250
id: DOID:0050131
definition: Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
has_obo_namespace: disease_ontology

Axiom
annotated target: Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated source: motility-related diarrhea
annotated property: definition

inflammatory diarrhea
type: Class
subclass of: DOID_13250
definition: A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
id: DOID:0050132
has_obo_namespace: disease_ontology

Axiom
annotated target: A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated source: inflammatory diarrhea
annotated property: definition

superficial mycosis
type: Class
subclass of: DOID 1564
definition: A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
comment: Adding a UMLS CUI for piedra C2980104.
id: DOID:0050133
has_alternative_id: DOID:13370
database_cross_reference: ICD10CM:B36.9
database_cross_reference: MSH:D010854
database_cross_reference: SNOMEDCT_US_2015_03_01:154408001
database_cross_reference: SNOMEDCT_US_2015_03_01:187002008
database_cross_reference: SNOMEDCT_US_2015_03_01:187476003
database_cross_reference: SNOMEDCT_US_2015_03_01:266218008
database_cross_reference: SNOMEDCT_US_2015_03_01:276206000
database_cross_reference: SNOMEDCT_US_2015_03_01:402135006
database_cross_reference: SNOMEDCT_US_2015_03_01:47382004
has_exact_synonym: Steroid-modified tinea infection
database_cross_reference: UMLS_CUI:C0031898
database_cross_reference: UMLS_CUI:C2980104
has_obo_namespace: disease_ontology
has_exact_synonym: piedra

Axiom
annotated target: A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycoses
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/
annotated source: superficial mycosis
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:238435009
annotated target: Steroid-modified tinea infection
annotated source: superficial mycosis
annotated property: has_exact_synonym

cutaneous mycosis
type: Class
subclass of: DOID 1564
definition: A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
id: DOID:0050134
has_obo_namespace: disease_ontology

Axiom
annotated target: A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycoses
database_cross_reference: url:http://jama.ama-assn.org/cgi/reprint/61/6/407
annotated source: cutaneous mycosis
annotated property: definition

subcutaneous mycosis
type: Class
subclass of: DOID 1564
definition: A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
id: DOID:0050135
has_obo_namespace: disease_ontology

Axiom
annotated target: A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
database_cross_reference: url:http://www.itg.be/evde/53_Medical_mycologyp3.htm
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/
annotated source: subcutaneous mycosis
annotated property: definition

systemic mycosis
type: Class
subclass of: DOID 1564
definition: A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
id: DOID:0050136
has_obo_namespace: disease_ontology

Axiom
annotated target: A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
database_cross_reference: url:http://dermnetnz.org/fungal/systemic-mycoses.html
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006
annotated source: systemic mycosis
annotated property: definition

podoconiosis
type: Class
subclass of: DOID 4976
id: DOID:0050138
has_obo_namespace: disease_ontology

Opisthorchis felineus infectious disease
type: Class
definition: A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage.
id: DOID:0050139
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage.
database_cross_reference: url:http://en.wikipedia.org/wiki/Opisthorchis_felineus
annotated source: Opisthorchis felineus infectious disease
annotated property: definition

acute diarrhea
type: Class
subclass of: DOID_13250
definition: A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
id: DOID:0050140
has_obo_namespace: disease_ontology

Axiom
annotated target: A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea
annotated source: acute diarrhea
annotated property: definition

intestinal botulism
type: Class
subclass of: DOID_11976
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins.
id: DOID:0050141
has_obo_namespace: disease_ontology

Axiom
annotated target: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins.
database_cross_reference: url:http://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs270/en/
annotated source: intestinal botulism
annotated property: definition

asymptomatic dengue
type: Class
subclass of: DOID_12205
definition: A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
id: DOID:0050143
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
database_cross_reference: url:http://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0
annotated source: asymptomatic dengue
annotated property: definition

Kartagener syndrome
type: Class
subclass of: DOID 9562
definition: A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.
id: DOID:0050144
has_exact_synonym: Kartagener's syndrome
database_cross_reference: MSH:D007619
database_cross_reference: NCI:C84797
database_cross_reference: SNOMEDCT_US_2015_03_01:42402006
database_cross_reference: SNOMEDCT_US_2015_03_01:86204009
database_cross_reference: UMLS_CUI:C0022521
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus

Axiom
annotated target: A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.
database_cross_reference: url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19529061
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23243352
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/24019633
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/25633235
annotated source: Kartagener syndrome
annotated property: definition

adenoiditis
type: Class
subclass of: DOID 974
definition: An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing.
id: DOID:0050145
has_alternative_id: DOID:13750
database_cross_reference: ICD10CM:J35.02
database_cross_reference: ICD9CM:474.01
database_cross_reference: SNOMEDCT_US_2015_03_01:195794009
database_cross_reference: SNOMEDCT_US_2015_03_01:232420002
database_cross_reference: UMLS_CUI:C0396023
has_exact_synonym: chronic adenoiditis
has_obo_namespace: disease_ontology

Axiom
annotated target: An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing.
database_cross_reference: url:http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoiditis
annotated source: adenoiditis
annotated property: definition

autoimmune glomerulonephritis
type: Class
id: DOID:0050146
has_obo_namespace: disease_ontology
deprecated: true

otomycosis
type: Class
subclass of: DOID 37
subclass of: DOID 9463
definition: A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
id: DOID:0050147
has_exact_synonym: Singapore ear
has_obo_namespace: disease_ontology

Axiom
annotated target: A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
database_cross_reference: url:http://en.wikipedia.org/wiki/Otomycosis
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis
annotated source: otomycosis
annotated property: definition

laryngotracheitis
type: Class
subclass of: DOID 974
definition: An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
id: DOID:0050148
has_alternative_id: DOID:11795
has_alternative_id: DOID:9390
database_cross_reference: ICD10CM:J04
database_cross_reference: ICD10CM:J04.2
database_cross_reference: ICD10CM:J37.1
database_cross_reference: ICD9CM:464
database_cross_reference: ICD9CM:464.2
database_cross_reference: ICD9CM:476.1
database_cross_reference: SNOMEDCT_US_2015_03_01:155505008
database_cross_reference: SNOMEDCT_US_2015_03_01:155508005
database_cross_reference: SNOMEDCT_US_2015_03_01:195679003
database_cross_reference: SNOMEDCT_US_2015_03_01:195694004
database_cross_reference: SNOMEDCT_US_2015_03_01:195697006
database_cross_reference: SNOMEDCT_US_2015_03_01:195703007
database_cross_reference: SNOMEDCT_US_2015_03_01:276443001
database_cross_reference: SNOMEDCT_US_2015_03_01:64375000
database_cross_reference: SNOMEDCT_US_2015_03_01:83271005
database_cross_reference: UMLS_CUI:C0155811
database_cross_reference: UMLS_CUI:C0155837
has_obo_namespace: disease_ontology

Axiom
annotated target: An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
annotated source: laryngotracheitis
annotated property: definition

Pontiac fever
type: Class
subclass of: legionellosis
definition: A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
id: DOID:0050150
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
database_cross_reference: url:http://www.cdc.gov/legionella/patient_facts.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/623097
annotated source: Pontiac fever
annotated property: definition

tracheobronchial tuberculosis
type: Class
definition: A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever.
id: DOID:0050151
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/9122509
annotated source: tracheobronchial tuberculosis
annotated property: definition

aspiration pneumonia
type: Class
subclass of: DOID 874
definition: A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
id: DOID:0050152
database_cross_reference: ICD10CM:J69.0
database_cross_reference: MSH:D011015
database_cross_reference: SNOMEDCT_US_2015_03_01:422588002
database_cross_reference: SNOMEDCT_US_2015_03_01:47839005
database_cross_reference: UMLS_CUI:C0032290
has_obo_namespace: disease_ontology

Axiom
annotated target: A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
database_cross_reference: url:http://scalpel.stanford.edu/articles/aspiration--NEJM.pdf
annotated source: aspiration pneumonia
annotated property: definition

pulmonary aspergilloma
type: Class
subclass of: DOID_13564
definition: An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
id: DOID:0050153
has_obo_namespace: disease_ontology

Axiom
annotated target: An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm
annotated source: pulmonary aspergilloma
annotated property: definition

mycoplasmal pneumonia
type: Class
definition: A bacterial pneumonia caused by the genus Mycoplasma.
id: DOID:0050154
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A bacterial pneumonia caused by the genus Mycoplasma.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycoplasma
annotated source: mycoplasmal pneumonia
annotated property: definition

sensory system disease
type: Class
subclass of: DOID 863
definition: A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
id: DOID:0050155
has_obo_namespace: disease_ontology

Axiom
annotated target: A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system
annotated source: sensory system disease
annotated property: definition

idiopathic pulmonary fibrosis
type: Class
subclass of: DOID 2797
definition: An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
id: DOID:0050156
database_cross_reference: EFO:0000768
has_exact_synonym: FIBROCYSTIC PULMONARY DYSPLASIA
database_cross_reference: ICD10CM:J84.112
database_cross_reference: ICD9CM:516.31
has_exact_synonym: IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
database_cross_reference: MSH:D054990
database_cross_reference: NCI:C35715
database_cross_reference: NCI:C35716
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:178500
database_cross_reference: SNOMEDCT_US_2015_03_01:196125002
database_cross_reference: SNOMEDCT_US_2015_03_01:233721005
database_cross_reference: SNOMEDCT_US_2015_03_01:237121003
database_cross_reference: SNOMEDCT_US_2015_03_01:28168000
database_cross_reference: SNOMEDCT_US_2015_03_01:426437004
database_cross_reference: UMLS_CUI:C1800706
has_exact_synonym: cryptogenic fibrosing alveolitis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus

Axiom
annotated target: An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11790668
annotated source: idiopathic pulmonary fibrosis
annotated property: definition

cryptogenic organizing pneumonia
type: Class
subclass of: DOID 2797
definition: An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
has_exact_synonym: BOOP
has_exact_synonym: Bronchiolitis obliterans organizing pneumonia (disorder)
has_exact_synonym: Cryptogenic organizing pneumonitis
id: DOID:0050157
has_alternative_id: DOID:2798
database_cross_reference: ICD10CM:J84.116
database_cross_reference: ICD9CM:516.36
database_cross_reference: MSH:D018549
database_cross_reference: NCI:C62586
database_cross_reference: SNOMEDCT_US_2015_03_01:129458007
database_cross_reference: UMLS_CUI:C0242770
has_exact_synonym: bronchiolitis obliterans organizing pneumonia
has_obo_namespace: disease_ontology
has_exact_synonym: idiopathic bronchiolitis obliterans with organizing pneumonia
in_subset: NCIthesaurus

Axiom
annotated target: An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
database_cross_reference: url:http://chestjournal.chestpubs.org/content/102/1_Supplement/2S.long
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11790668
annotated source: cryptogenic organizing pneumonia
annotated property: definition

Axiom
annotated target: Bronchiolitis obliterans organizing pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:129458007
annotated source: cryptogenic organizing pneumonia
annotated property: has_exact_synonym

desquamative interstitial pneumonia
type: Class
subclass of: DOID 2797
definition: An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
id: DOID:0050158
has_alternative_id: DOID:2796
database_cross_reference: ICD10CM:J84.115
database_cross_reference: ICD10CM:J84.117
database_cross_reference: ICD9CM:516.34
database_cross_reference: ICD9CM:516.37
database_cross_reference: MSH:C562470
database_cross_reference: NCI:C35288
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:263000
has_exact_synonym: RBILD
database_cross_reference: SNOMEDCT_US_2015_03_01:8549006
database_cross_reference: UMLS_CUI:C0238378
has_exact_synonym: desquamative interstitial pneumonia
has_obo_namespace: disease_ontology
has_exact_synonym: familial desquamative interstitial pneumonitis
has_exact_synonym: respiratory bronchiolitis-associated interstitial lung disease
in_subset: NCIthesaurus

Axiom
annotated target: An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11790668
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16142185
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16456642
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23001799
annotated source: desquamative interstitial pneumonia
annotated property: definition

lymphoid interstitial pneumonia
type: Class
subclass of: DOID 2797
definition: An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
id: DOID:0050159
has_obo_namespace: disease_ontology

Axiom
annotated target: An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11790668
annotated source: lymphoid interstitial pneumonia
annotated property: definition

inhalation anthrax
type: Class
subclass of: DOID 7427
definition: An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
id: DOID:0050160
has_obo_namespace: disease_ontology
has_exact_synonym: pulmonary anthrax
has_exact_synonym: respiratory anthrax
has_exact_synonym: wool-sorters' disease
has_exact_synonym: woolsorters' disease
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
database_cross_reference: MTHICD9_2006:022.1
annotated target: respiratory anthrax
annotated source: inhalation anthrax
annotated property: has_exact_synonym

Axiom
annotated target: An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
database_cross_reference: url:http://chestjournal.chestpubs.org/content/116/5/1369.full
database_cross_reference: url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11988441
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000641.htm
annotated source: inhalation anthrax
annotated property: definition

lower respiratory tract disease
type: Class
subclass of: DOID 1579
definition: A respiratory system disease which involves the lower respiratory tract.
id: DOID:0050161
database_cross_reference: ICD9CM:478.1
database_cross_reference: ICD9CM:478.19
database_cross_reference: SNOMEDCT_US_2015_03_01:195823002
database_cross_reference: SNOMEDCT_US_2015_03_01:266346007
database_cross_reference: UMLS_CUI:C0029581
has_obo_namespace: disease_ontology

Axiom
annotated target: A respiratory system disease which involves the lower respiratory tract.
database_cross_reference: url:http://en.wikipedia.org/wiki/lower_respiratory_tract
annotated source: lower respiratory tract disease
annotated property: definition

influenza encephalopathy
type: Class
id: DOID:0050162
has_obo_namespace: disease_ontology
deprecated: true

influenza myocarditis
type: Class
id: DOID:0050163
has_obo_namespace: disease_ontology
deprecated: true

influenza myositis
type: Class
id: DOID:0050164
has_obo_namespace: disease_ontology
deprecated: true

tuberculous mesenteric gland
type: Class
definition: A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain.
id: DOID:0050165
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain.
annotated source: tuberculous mesenteric gland
annotated property: definition

tuberculous salpingitis
type: Class
subclass of: DOID 2149
definition: An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
id: DOID:0050166
database_cross_reference: ICD10CM:A18.17
database_cross_reference: ICD9CM:016.6
database_cross_reference: SNOMEDCT_US_2015_03_01:186242002
database_cross_reference: SNOMEDCT_US_2015_03_01:186243007
database_cross_reference: UMLS_CUI:C0152828
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
annotated source: tuberculous salpingitis
annotated property: definition

autoimmune polyendocrine syndrome type 1
type: Class
subclass of: DOID_14040
definition: An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
has_exact_synonym: Autoimmune Polyglandular Syndrome I
id: DOID:0050167
has_exact_synonym: Whitaker syndrom
has_exact_synonym: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
has_obo_namespace: disease_ontology

Axiom
annotated target: An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
database_cross_reference: sn:IEDB
annotated source: autoimmune polyendocrine syndrome type 1
annotated property: definition

autoimmune polyendocrine syndrome type 2
type: Class
subclass of: DOID_14040
definition: An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
id: DOID:0050168
has_exact_synonym: Schmidt syndrome
has_obo_namespace: disease_ontology

Axiom
annotated target: An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
database_cross_reference: sn:IEDB
database_cross_reference: url:http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2
annotated source: autoimmune polyendocrine syndrome type 2
annotated property: definition

cutaneous lupus erythematosus
type: Class
subclass of: DOID 8857
definition: A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
id: DOID:0050169
has_obo_namespace: disease_ontology

Axiom
annotated target: A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
database_cross_reference: sn:IEDB
annotated source: cutaneous lupus erythematosus
annotated property: definition

Jamestown Canyon encephalitis
type: Class
definition: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures.
id: DOID:0050170
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/10451169
annotated source: Jamestown Canyon encephalitis
annotated property: definition

snowshoe hare encephalitis
type: Class
definition: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
id: DOID:0050171
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
database_cross_reference: url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php
annotated source: snowshoe hare encephalitis
annotated property: definition

trivittatus encephalitis
type: Class
definition: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma.
id: DOID:0050172
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma.
database_cross_reference: url:http://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS,ARBOVIRAL_CD.pdf
database_cross_reference: url:http://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/10025535
annotated source: trivittatus encephalitis
annotated property: definition

inkoo encephalitis
type: Class
definition: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures.
id: DOID:0050173
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures.
database_cross_reference: url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf
database_cross_reference: url:http://en.wikipedia.org/wiki/California_encephalitis_virus
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/10025535
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/8760424
annotated source: inkoo encephalitis
annotated property: definition

Kunjin encephalitis
type: Class
subclass of: DOID 2365
definition: A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
id: DOID:0050174
has_obo_namespace: disease_ontology

Axiom
annotated target: A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
database_cross_reference: url:http://www.health.gov.au/internet/main/publishing.nsf/Content/health-arbovirus-pdf-fskunjin.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/2552010
annotated source: Kunjin encephalitis
annotated property: definition

tick-borne encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
has_exact_synonym: Central European encephalitis
id: DOID:0050175
has_alternative_id: DOID:0050176
has_alternative_id: DOID:10251
has_alternative_id: DOID:10252
has_exact_synonym: Far Eastern TBE
database_cross_reference: ICD10CM:A84.1
database_cross_reference: ICD9CM:063.2
database_cross_reference: MSH:D004675
has_exact_synonym: Russian spring-summer encephalitis
database_cross_reference: SNOMEDCT_US_2015_03_01:16901001
has_exact_synonym: Siberian tick-borne encephalitis
has_exact_synonym: Taiga encephalitis
database_cross_reference: UMLS_CUI:C0014054
has_exact_synonym: Western European tick-borne encephalitis
has_obo_namespace: disease_ontology
has_exact_synonym: west-Siberian encephalitis
in_subset: tick-borne infectious disease

Axiom
database_cross_reference: MTHICD9_2006:063.0
annotated target: Taiga encephalitis
annotated source: tick-borne encephalitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:16901001
annotated target: Western European tick-borne encephalitis
annotated source: tick-borne encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm
annotated source: tick-borne encephalitis
annotated property: definition

monogenic disease
type: Class
subclass of: DOID 630
definition: A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
id: DOID:0050177
has_obo_namespace: disease_ontology

Axiom
annotated target: A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
database_cross_reference: DO:wk,ls
annotated source: monogenic disease
annotated property: definition

complex genetic disease
type: Class
definition: A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele).
id: DOID:0050178
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele).
database_cross_reference: DO:wk
annotated source: complex genetic disease
annotated property: definition

Powassan encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
id: DOID:0050179
has_obo_namespace: disease_ontology
in_subset: tick-borne infectious disease

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
database_cross_reference: url:http://chppm-www.apgea.army.mil/ento/facts/Powassan-JusttheFactsJanuary2004.pdf
annotated source: Powassan encephalitis
annotated property: definition

Colorado tick fever encephalitis
type: Class
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss.
id: DOID:0050180
has_obo_namespace: disease_ontology
deprecated: true
in_subset: tick-borne infectious disease

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/13894744
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/2838146
annotated source: Colorado tick fever encephalitis
annotated property: definition

Herpes simplex virus encephalitis
type: Class
definition: A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations.
id: DOID:0050181
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm
annotated source: Herpes simplex virus encephalitis
annotated property: definition

Varicella-zoster virus encephalitis
type: Class
definition: A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias.
id: DOID:0050182
has_alternative_id: DOID:8698
has_exact_synonym: Herpes zoster encephalitis
has_exact_synonym: Postchickenpox encephalitis
has_exact_synonym: Varicella Zoster Encephalitis
has_obo_namespace: disease_ontology
has_exact_synonym: postvaricella encephalitis
deprecated: true

Axiom
annotated target: Herpes zoster encephalitis
database_cross_reference: SNOMEDCT_2005_07_31:186521003
database_cross_reference: SNOMEDCT_2005_07_31:192692005
annotated source: Varicella-zoster virus encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias.
database_cross_reference: url:http://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/6273449
annotated source: Varicella-zoster virus encephalitis
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:052.0
annotated target: Postchickenpox encephalitis
annotated source: Varicella-zoster virus encephalitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTH:NOCODE
annotated target: Varicella Zoster Encephalitis
annotated source: Varicella-zoster virus encephalitis
annotated property: has_exact_synonym

Epstein-Barr virus encephalitis
type: Class
definition: An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.
id: DOID:0050183
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.
database_cross_reference: url:http://www.aafp.org/afp/20000201/letters.html
database_cross_reference: url:http://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm
annotated source: Epstein-Barr virus encephalitis
annotated property: definition

Measles virus encephalitis
type: Class
definition: A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.
id: DOID:0050184
has_alternative_id: DOID:9127
has_exact_synonym: Post measles encephalitis (disorder)
has_exact_synonym: Post-measles encephalitis
has_obo_namespace: disease_ontology
has_exact_synonym: postmeasles encephalitis
deprecated: true

Axiom
annotated target: Post-measles encephalitis
database_cross_reference: SNOMEDCT_2005_07_31:154339003
database_cross_reference: SNOMEDCT_2005_07_31:186557008
database_cross_reference: SNOMEDCT_2005_07_31:230178009
annotated source: Measles virus encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: Post measles encephalitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:111872008
annotated source: Measles virus encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.
database_cross_reference: url:http://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html
database_cross_reference: url:http://www.springerlink.com/content/2020124072032058/
annotated source: Measles virus encephalitis
annotated property: definition

erythema multiforme
type: Class
subclass of: DOID 37
definition: A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
id: DOID:0050185
has_obo_namespace: disease_ontology

Axiom
annotated target: A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm
annotated source: erythema multiforme
annotated property: definition

Cytomegalovirus encephalitis
type: Class
definition: A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.
id: DOID:0050186
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/8815757
annotated source: Cytomegalovirus encephalitis
annotated property: definition

Rubella virus encephalitis
type: Class
definition: A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma.
id: DOID:0050187
has_alternative_id: DOID:9231
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263
annotated source: Rubella virus encephalitis
annotated property: definition

coxsackievirus encephalitis
type: Class
definition: An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma.
id: DOID:0050188
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma.
database_cross_reference: url:http://books.google.com/books?id=SRpQyCQuxtUC&pg=PA148&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/14464001
annotated source: coxsackievirus encephalitis
annotated property: definition

polioencephalitis
type: Class
definition: An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.
id: DOID:0050189
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/13436875
annotated source: polioencephalitis
annotated property: definition

adenovirus encephalitis
type: Class
definition: An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures.
id: DOID:0050190
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures.
database_cross_reference: url:http://books.google.com/books?id=SRpQyCQuxtUC&pg=PA70&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://cid.oxfordjournals.org/content/31/3/830.full
database_cross_reference: url:http://www.medscape.com/viewarticle/414625
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15560392
annotated source: adenovirus encephalitis
annotated property: definition

influenza virus encephalitis
type: Class
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies.
id: DOID:0050191
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792
annotated source: influenza virus encephalitis
annotated property: definition

Nipah virus encephalitis
type: Class
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.
id: DOID:0050192
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19141846
database_cross_reference: url:http://www.searo.who.int/LinkFiles/CDS_Nipah_Virus.pdf
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs262/en/
annotated source: Nipah virus encephalitis
annotated property: definition

Lymphocytic choriomeningitis virus encephalitis
type: Class
definition: A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
id: DOID:0050193
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm
annotated source: Lymphocytic choriomeningitis virus encephalitis
annotated property: definition

Argentine hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
id: DOID:0050194
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
database_cross_reference: url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever
database_cross_reference: url:http://www.jstor.org/stable/30129873?seq=1
annotated source: Argentine hemorrhagic fever
annotated property: definition

Bolivian hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
id: DOID:0050195
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
database_cross_reference: url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm
annotated source: Bolivian hemorrhagic fever
annotated property: definition

Venezuelan hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
id: DOID:0050196
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
database_cross_reference: url:http://www.paho.org/English/SHA/epibul_95-98/be953vhf.htm
annotated source: Venezuelan hemorrhagic fever
annotated property: definition

Brazilian hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
id: DOID:0050197
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
database_cross_reference: url:http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/7905555
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377
annotated source: Brazilian hemorrhagic fever
annotated property: definition

Chapare hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding.
id: DOID:0050198
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377
annotated source: Chapare hemorrhagic fever
annotated property: definition

Whitewater Arroyo hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
id: DOID:0050199
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
database_cross_reference: url:http://jama.ama-assn.org/cgi/content/full/284/10/1237
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746
annotated source: Whitewater Arroyo hemorrhagic fever
annotated property: definition

Korean hemorrhagic fever
type: Class
subclass of: hemorrhagic fever with renal syndrome
definition: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
id: DOID:0050200
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/1349231
annotated source: Korean hemorrhagic fever
annotated property: definition

nephropathia epidemica
type: Class
subclass of: hemorrhagic fever with renal syndrome
definition: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
id: DOID:0050201
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/1349231
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/2574903
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/2902106
annotated source: nephropathia epidemica
annotated property: definition

lujo hemorrhagic fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
id: DOID:0050202
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/19478873
annotated source: lujo hemorrhagic fever
annotated property: definition

Cytomegalovirus hepatitis
type: Class
definition: A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood.
id: DOID:0050203
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cytomegalovirus
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/4300216
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/11380800
annotated source: Cytomegalovirus hepatitis
annotated property: definition

Epstein-Barr virus hepatitis
type: Class
subclass of: DOID 1884
subclass of: DOID 37
definition: A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
id: DOID:0050204
has_obo_namespace: disease_ontology

Axiom
annotated target: A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16711324
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17602362
annotated source: Epstein-Barr virus hepatitis
annotated property: definition

Herpes simplex virus hepatitis
type: Class
definition: A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions.
id: DOID:0050205
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions.
database_cross_reference: url:http://jcp.bmj.com/content/46/10/968.full.pdf
database_cross_reference: url:http://www.jstor.org/stable/20396832
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16597901
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/7006542
annotated source: Herpes simplex virus hepatitis
annotated property: definition

adenovirus hepatitis
type: Class
definition: An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage.
id: DOID:0050206
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage.
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA273&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://onlinelibrary.wiley.com/doi/10.1111/j.1399-3046.2010.01443.x/abstract
annotated source: adenovirus hepatitis
annotated property: definition

Rubella virus hepatitis
type: Class
definition: A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis.
id: DOID:0050207
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis.
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/7550869
annotated source: Rubella virus hepatitis
annotated property: definition

yellow fever hepatitis
type: Class
definition: A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations.
id: DOID:0050208
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations.
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false
annotated source: yellow fever hepatitis
annotated property: definition

Measles virus hepatitis
type: Class
definition: A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice.
id: DOID:0050209
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice.
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17068034
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/3417236
annotated source: Measles virus hepatitis
annotated property: definition

Varicella-zoster virus hepatitis
type: Class
definition: A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.
id: DOID:0050210
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16944014
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/8092915
annotated source: Varicella-zoster virus hepatitis
annotated property: definition

swine influenza
type: Class
subclass of: DOID 8469
definition: An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
id: DOID:0050211
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
database_cross_reference: url:http://www.cdc.gov/flu/swineflu/key_facts.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/9140195
annotated source: swine influenza
annotated property: definition

Campylobacter jejuni gastroenteritis
type: Class
definition: A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.
has_exact_synonym: Campylobacter Gastroenteritis
id: DOID:0050212
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: Campylobacter Gastroenteritis
database_cross_reference: NCI2004_11_17:C35162
annotated source: Campylobacter jejuni gastroenteritis
annotated property: has_exact_synonym

Axiom
annotated target: A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17846438
annotated source: Campylobacter jejuni gastroenteritis
annotated property: definition

Vibrio gastroenteritis
type: Class
definition: A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea.
id: DOID:0050213
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea.
database_cross_reference: url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/30113106.pdf
database_cross_reference: url:http://www.merck.com/mmpe/sec02/ch016/ch016a.html
annotated source: Vibrio gastroenteritis
annotated property: definition

Lambert-Eaton myasthenic syndrome
type: Class
subclass of: DOID 439
definition: A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
id: DOID:0050214
has_exact_synonym: Eaton-Lambert syndrome
database_cross_reference: ICD10CM:G70.80
database_cross_reference: ICD9CM:358.3
has_exact_synonym: LEMS
has_exact_synonym: Lambert-Eaton syndrome
database_cross_reference: MSH:D015624
database_cross_reference: NCI:C3155
database_cross_reference: SNOMEDCT_US_2015_03_01:230688006
database_cross_reference: SNOMEDCT_US_2015_03_01:56989000
database_cross_reference: UMLS_CUI:C0022972
has_obo_namespace: disease_ontology

Axiom
annotated target: Lambert-Eaton syndrome
database_cross_reference: MSH:D015624
annotated source: Lambert-Eaton myasthenic syndrome
annotated property: has_exact_synonym

Axiom
annotated target: A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
database_cross_reference: url:http://emedicine.medscape.com/article/1170810-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome
annotated source: Lambert-Eaton myasthenic syndrome
annotated property: definition

Axiom
annotated target: Eaton-Lambert syndrome
database_cross_reference: MSH:D015624
annotated source: Lambert-Eaton myasthenic syndrome
annotated property: has_exact_synonym

Staphylococcus gastroenteritis
type: Class
definition: A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever.
id: DOID:0050215
has_exact_synonym: Staphylococcus Aureus Gastroenteritis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: NCI2004_11_17:C35036
annotated target: Staphylococcus Aureus Gastroenteritis
annotated source: Staphylococcus gastroenteritis
annotated property: has_exact_synonym

Axiom
annotated target: A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever.
database_cross_reference: url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html
annotated source: Staphylococcus gastroenteritis
annotated property: definition

Bacillus cereus gastroenteritis
type: Class
definition: A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea.
id: DOID:0050216
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea.
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/30112755.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/8501338
annotated source: Bacillus cereus gastroenteritis
annotated property: definition

Sapovirus gastroenteritis
type: Class
definition: A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea.
id: DOID:0050217
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm
database_cross_reference: url:http://www0.nih.go.jp/JJID/61/438.pdf
annotated source: Sapovirus gastroenteritis
annotated property: definition

polycystic echinococcosis
type: Class
subclass of: DOID 1496
definition: An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
id: DOID:0050218
has_obo_namespace: disease_ontology
has_exact_synonym: human polycystic hydatid disease
has_exact_synonym: neotropical echinococcosis

Axiom
annotated target: An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
database_cross_reference: url:http://en.wikipedia.org/wiki/Echinococcosis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm
annotated source: polycystic echinococcosis
annotated property: definition

Hepeviridae infectious disease
type: Class
definition: A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
id: DOID:0050219
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hepeviridae
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/41.html
annotated source: Hepeviridae infectious disease
annotated property: definition

Coxiella burnetii pneumonia
type: Class
definition: A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission.
id: DOID:0050220
has_exact_synonym: Q fever pneumonia
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission.
database_cross_reference: url:http://en.wikipedia.org/wiki/Q_fever
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15021054
annotated source: Coxiella burnetii pneumonia
annotated property: definition

Coxiella burnetii hepatitis
type: Class
definition: A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.
id: DOID:0050221
has_exact_synonym: Q fever hepatitis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch177/ch177i.html
annotated source: Coxiella burnetii hepatitis
annotated property: definition

selective IgM deficiency disease
type: Class
subclass of: DOID_11702
definition: A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
id: DOID:0050222
has_obo_namespace: disease_ontology

Axiom
annotated target: A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
database_cross_reference: url:http://en.wikipedia.org/wiki/IgM
database_cross_reference: url:http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency
annotated source: selective IgM deficiency disease
annotated property: definition

candidal gastritis
type: Class
definition: A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting.
id: DOID:0050223
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting.
database_cross_reference: url:http://books.google.com/books?id=I-qKxu5oE2EC&pg=PA166&lpg=PA166&dq#v=onepage&q=&f=false
database_cross_reference: url:http://emedicine.medscape.com/article/213853-overview
database_cross_reference: url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html
annotated source: candidal gastritis
annotated property: definition

Helicobacter heilmannii infectious disease
type: Class
definition: A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.
id: DOID:0050224
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/10349993
annotated source: Helicobacter heilmannii infectious disease
annotated property: definition

Histoplasma capsulatum gastritis
type: Class
definition: An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds.
id: DOID:0050225
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds.
database_cross_reference: url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16377536
annotated source: Histoplasma capsulatum gastritis
annotated property: definition

Morganella morganii intestinal infectious disease
type: Class
definition: An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.
id: DOID:0050226
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/17180585
annotated source: Morganella morganii intestinal infectious disease
annotated property: definition

Vibrio cholerae O139 cholera
type: Class
definition: A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.
id: DOID:0050227
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.
database_cross_reference: url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent
annotated source: Vibrio cholerae O139 cholera
annotated property: definition

amebic dysentery
type: Class
definition: An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever.
id: DOID:0050228
has_exact_synonym: Entamoeba histolytica dysentery
has_exact_synonym: amebic dysentery
has_exact_synonym: amoebic dysentery
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever.
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html
annotated source: amebic dysentery
annotated property: definition

Escherichia coli dysentery
type: Class
definition: An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration.
id: DOID:0050229
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration.
database_cross_reference: url:http://emedicine.medscape.com/article/217485-overview
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/30112505.pdf
annotated source: Escherichia coli dysentery
annotated property: definition

intestinal capillariasis
type: Class
definition: A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea.
id: DOID:0050230
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea.
database_cross_reference: url:http://en.wikipedia.org/wiki/Intestinal_capillariasis
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm
annotated source: intestinal capillariasis
annotated property: definition

hepatic capillariasis
type: Class
definition: A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.
id: DOID:0050231
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.
database_cross_reference: url:http://en.wikipedia.org/wiki/Capillaria_hepatica
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm
annotated source: hepatic capillariasis
annotated property: definition

pulmonary capillariasis
type: Class
definition: A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.
id: DOID:0050232
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm
annotated source: pulmonary capillariasis
annotated property: definition

Balamuthia mandrillaris infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.
id: DOID:0050233
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm
annotated source: Balamuthia mandrillaris infectious disease
annotated property: definition

Acanthamoeba infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.
id: DOID:0050234
has_alternative_id: DOID:11334
has_obo_namespace: disease_ontology
has_exact_synonym: free-living ameba infectious disease
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Acanthamoeba
annotated source: Acanthamoeba infectious disease
annotated property: definition

Alveolata infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.
id: DOID:0050235
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alveolata
annotated source: Alveolata infectious disease
annotated property: definition

Heterolobosea infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.
id: DOID:0050236
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.
database_cross_reference: url:http://tolweb.org/Heterolobosea/96360
annotated source: Heterolobosea infectious disease
annotated property: definition

Euglenozoa infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.
id: DOID:0050237
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.
database_cross_reference: url:http://en.wikipedia.org/wiki/Euglenozoa
annotated source: Euglenozoa infectious disease
annotated property: definition

Parabasalia infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.
id: DOID:0050238
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.
database_cross_reference: url:http://en.wikipedia.org/wiki/Parabasalid
annotated source: Parabasalia infectious disease
annotated property: definition

Fornicata infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
id: DOID:0050239
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
database_cross_reference: url:http://tolweb.org/Fornicata/121182
annotated source: Fornicata infectious disease
annotated property: definition

Trichomonadida infectious disease
type: Class
definition: A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole.
id: DOID:0050240
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole.
database_cross_reference: url:http://en.wikipedia.org/wiki/Trichomonad
annotated source: Trichomonadida infectious disease
annotated property: definition

Tritrichomonadida infectious disease
type: Class
definition: A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body.
id: DOID:0050241
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080
annotated source: Tritrichomonadida infectious disease
annotated property: definition

primary amebic meningoencephalitis
type: Class
subclass of: DOID 2789
definition: A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
id: DOID:0050242
has_exact_synonym: Naegleria fowleri infection
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
database_cross_reference: url:http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm
annotated source: primary amebic meningoencephalitis
annotated property: definition

Apicomplexa infectious disease
type: Class
definition: An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans.
id: DOID:0050243
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans.
database_cross_reference: url:http://en.wikipedia.org/wiki/Apicomplexa
annotated source: Apicomplexa infectious disease
annotated property: definition

Coccidia infectious disease
type: Class
definition: An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans.
id: DOID:0050244
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans.
database_cross_reference: url:http://en.wikipedia.org/wiki/Coccidia
annotated source: Coccidia infectious disease
annotated property: definition

Aconoidasida infectious disease
type: Class
definition: An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.
id: DOID:0050245
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.
database_cross_reference: url:http://en.wikipedia.org/wiki/Aconoidasida
annotated source: Aconoidasida infectious disease
annotated property: definition

granulomatous amebic encephalitis
type: Class
subclass of: DOID 2789
definition: A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
has_exact_synonym: Acanthamoeba encephalitis
has_exact_synonym: Acanthamoeba granulomatous encephalitis
id: DOID:0050246
has_exact_synonym: Granulomatous Amebic Encephalitis due to Acanthamoeba
has_obo_namespace: disease_ontology
has_exact_synonym: granulomatous amoebic encephalitis

Axiom
annotated target: A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm
annotated source: granulomatous amebic encephalitis
annotated property: definition

parasitic stramenopiles infectious disease
type: Class
definition: A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.
id: DOID:0050247
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.
database_cross_reference: url:http://en.wikipedia.org/wiki/Stramenopiles
annotated source: parasitic stramenopiles infectious disease
annotated property: definition

Brugia timori filariasis
type: Class
definition: A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.
id: DOID:0050249
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.
database_cross_reference: url:http://en.wikipedia.org/wiki/Brugia_timori
annotated source: Brugia timori filariasis
annotated property: definition

philophthalmiasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
id: DOID:0050250
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm
annotated source: philophthalmiasis
annotated property: definition

coenurosis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
id: DOID:0050251
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Coenurosis.htm
annotated source: coenurosis
annotated property: definition

Dipylidium caninum infectious disease
type: Class
definition: A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness.
id: DOID:0050252
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dipylidium_caninum
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm
annotated source: Dipylidium caninum infectious disease
annotated property: definition

mesocestoidiasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
id: DOID:0050253
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm
annotated source: mesocestoidiasis
annotated property: definition

acanthocephaliasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
id: DOID:0050254
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Acanthocephaliasis.htm
annotated source: acanthocephaliasis
annotated property: definition

Uncinaria stenocephala infectious disease
type: Class
definition: A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections.
id: DOID:0050255
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections.
database_cross_reference: url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala
annotated source: Uncinaria stenocephala infectious disease
annotated property: definition

angiostrongyliasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
id: DOID:0050256
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm
annotated source: angiostrongyliasis
annotated property: definition

Angiostrongylus cantonensis infectious disease
type: Class
definition: An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur.
id: DOID:0050257
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm
annotated source: Angiostrongylus cantonensis infectious disease
annotated property: definition

Angiostrongylus costaricensis infectious disease
type: Class
definition: An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity.
id: DOID:0050258
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668
annotated source: Angiostrongylus costaricensis infectious disease
annotated property: definition

baylisascariasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
id: DOID:0050259
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Baylisascariasis.htm
annotated source: baylisascariasis
annotated property: definition

dioctophymiasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
id: DOID:0050260
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm
annotated source: dioctophymiasis
annotated property: definition

thelaziasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
id: DOID:0050261
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm
annotated source: thelaziasis
annotated property: definition

Acoelomata infectious disease
type: Class
definition: A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity.
id: DOID:0050262
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity.
database_cross_reference: url:http://en.wikipedia.org/wiki/Flatworm
annotated source: Acoelomata infectious disease
annotated property: definition

Pseudocoelomata infectious disease
type: Class
definition: A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals.
id: DOID:0050263
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals.
database_cross_reference: url:http://en.wikipedia.org/wiki/Body_cavity
annotated source: Pseudocoelomata infectious disease
annotated property: definition

Acanthocephala infectious disease
type: Class
definition: A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.
id: DOID:0050264
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.
database_cross_reference: url:http://en.wikipedia.org/wiki/Acanthocephala
annotated source: Acanthocephala infectious disease
annotated property: definition

tick paralysis
type: Class
id: DOID:0050265
has_obo_namespace: disease_ontology
deprecated: true

tungiasis
type: Class
subclass of: DOID 37
subclass of: DOID 4110
definition: A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
id: DOID:0050266
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
database_cross_reference: url:http://en.wikipedia.org/wiki/Tungiasis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm
annotated source: tungiasis
annotated property: definition

Ancylostoma caninum ancylostomiasis
type: Class
definition: An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis.
id: DOID:0050267
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm
annotated source: Ancylostoma caninum ancylostomiasis
annotated property: definition

ophthalmomyiasis
type: Class
subclass of: myiasis
definition: A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
id: DOID:0050268
has_obo_namespace: disease_ontology

Axiom
annotated target: A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
database_cross_reference: url:http://en.wikipedia.org/wiki/Myiasis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm
annotated source: ophthalmomyiasis
annotated property: definition

Trichomonas vaginalis trichomoniasis
type: Class
definition: A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
id: DOID:0050269
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: urogenital trichomonas

Axiom
annotated target: A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
database_cross_reference: url:http://en.wikipedia.org/wiki/Trichomoniasis
annotated source: Trichomonas vaginalis trichomoniasis
annotated property: definition

Trichomonas tenax trichomoniasis
type: Class
definition: A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
id: DOID:0050270
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914
annotated source: Trichomonas tenax trichomoniasis
annotated property: definition

cutaneous ascomycota mycosis
type: Class
definition: A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members.
id: DOID:0050271
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
annotated source: cutaneous ascomycota mycosis
annotated property: definition

cutaneous basidiomycota mycosis
type: Class
definition: A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.
id: DOID:0050272
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota
annotated source: cutaneous basidiomycota mycosis
annotated property: definition

Neoscytalidium dimidiatum infectious disease
type: Class
definition: A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
id: DOID:0050273
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/17641983
annotated source: Neoscytalidium dimidiatum infectious disease
annotated property: definition

Scopulariopsis infectious disease
type: Class
definition: An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.
id: DOID:0050274
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.
database_cross_reference: url:http://www.doctorfungus.org/thefungi/scopulariopsis.htm
annotated source: Scopulariopsis infectious disease
annotated property: definition

onychomycosis
type: Class
definition: A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed.
id: DOID:0050275
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed.
database_cross_reference: url:http://en.wikipedia.org/wiki/Onychomycosis
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis
annotated source: onychomycosis
annotated property: definition

subcutaneous ascomycota mycosis
type: Class
definition: A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members.
id: DOID:0050276
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycosis
annotated source: subcutaneous ascomycota mycosis
annotated property: definition

subcutaneous fungi incertae sedis mycosis
type: Class
definition: A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members.
id: DOID:0050277
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members.
annotated source: subcutaneous fungi incertae sedis mycosis
annotated property: definition

basidiobolomycosis
type: Class
subclass of: subcutaneous mycosis
subclass of: DOID 37
definition: A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
id: DOID:0050278
has_obo_namespace: disease_ontology

Axiom
annotated target: A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/
annotated source: basidiobolomycosis
annotated property: definition

conidiobolomycosis
type: Class
subclass of: subcutaneous mycosis
subclass of: DOID 37
definition: An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
id: DOID:0050279
has_obo_namespace: disease_ontology

Axiom
annotated target: An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/
annotated source: conidiobolomycosis
annotated property: definition

superficial ascomycota mycosis
type: Class
definition: A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members.
id: DOID:0050280
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
annotated source: superficial ascomycota mycosis
annotated property: definition

superficial basidiomycota mycosis
type: Class
definition: A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members.
id: DOID:0050281
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota
annotated source: superficial basidiomycota mycosis
annotated property: definition

primary systemic ascomycota mycosis
type: Class
definition: A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.
id: DOID:0050282
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated source: primary systemic ascomycota mycosis
annotated property: definition

Stachybotrys infectious disease
type: Class
definition: A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants.
id: DOID:0050283
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants.
database_cross_reference: url:http://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf
database_cross_reference: url:http://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf
annotated source: Stachybotrys infectious disease
annotated property: definition

opportunistic ascomycota mycosis
type: Class
definition: An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.
id: DOID:0050284
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated source: opportunistic ascomycota mycosis
annotated property: definition

opportunistic basidiomycota mycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
id: DOID:0050285
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated source: opportunistic basidiomycota mycosis
annotated property: definition

opportunistic fungi incertae sedis mycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
id: DOID:0050286
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
annotated source: opportunistic fungi incertae sedis mycosis
annotated property: definition

opportunistic microsporidia mycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.
id: DOID:0050287
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.
database_cross_reference: url:http://en.wikipedia.org/wiki/Microsporidia
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated source: opportunistic microsporidia mycosis
annotated property: definition

penicilliosis
type: Class
subclass of: DOID 2473
definition: An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
id: DOID:0050288
has_obo_namespace: disease_ontology

Axiom
annotated target: An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16418525
annotated source: penicilliosis
annotated property: definition

fusariosis
type: Class
subclass of: DOID 2473
definition: An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
id: DOID:0050289
has_obo_namespace: disease_ontology

Axiom
annotated target: An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
database_cross_reference: url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/14748803
annotated source: fusariosis
annotated property: definition

trichosporonosis
type: Class
subclass of: DOID 2473
definition: An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
id: DOID:0050290
has_obo_namespace: disease_ontology

Axiom
annotated target: An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
database_cross_reference: url:http://emedicine.medscape.com/article/230705-overview
annotated source: trichosporonosis
annotated property: definition

parasitic Ichthyosporea infectious disease
type: Class
subclass of: DOID 1398
definition: A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
id: DOID:0050291
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mesomycetozoea
annotated source: parasitic Ichthyosporea infectious disease
annotated property: definition

primary systemic mycosis
type: Class
subclass of: systemic mycosis
definition: A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
id: DOID:0050292
has_obo_namespace: disease_ontology

Axiom
annotated target: A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/
annotated source: primary systemic mycosis
annotated property: definition

Scopulariopsis brevicaulis infectious disease
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
id: DOID:0050293
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
database_cross_reference: url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm
annotated source: Scopulariopsis brevicaulis infectious disease
annotated property: definition

Scytalidium hyalinum infectious disease
type: Class
definition: A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface.
id: DOID:0050294
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface.
database_cross_reference: url:http://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/444431
annotated source: Scytalidium hyalinum infectious disease
annotated property: definition

cutaneous sporotrichosis
type: Class
definition: A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain.
id: DOID:0050295
has_obo_namespace: disease_ontology
has_exact_synonym: plaque sporotrichosis
deprecated: true

Axiom
annotated target: A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain.
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm
annotated source: cutaneous sporotrichosis
annotated property: definition

Asfarviridae infectious disease
type: Class
definition: A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite.
id: DOID:0050296
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite.
database_cross_reference: url:http://en.wikipedia.org/wiki/Asfarviridae
annotated source: Asfarviridae infectious disease
annotated property: definition

primary Francisellaceae infectious disease
type: Class
id: DOID:0050297
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

adenovirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.
has_exact_synonym: Adenoviridae infectious disease
id: DOID:0050298
has_alternative_id: DOID:3123
has_alternative_id: DOID:3124
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoviridae
annotated source: adenovirus infectious disease
annotated property: definition

Simplexvirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.
id: DOID:0050299
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Simplexvirus
annotated source: Simplexvirus infectious disease
annotated property: definition

Deltavirus infectious disease
type: Class
definition: A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.
id: DOID:0050300
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Deltavirus
annotated source: Deltavirus infectious disease
annotated property: definition

Polyomaviridae infectious disease
type: Class
definition: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.
id: DOID:0050301
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Papillomaviridae
annotated source: Polyomaviridae infectious disease
annotated property: definition

Varicellovirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
id: DOID:0050302
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Varicellovirus
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/179.html
annotated source: Varicellovirus infectious disease
annotated property: definition

Hepacivirus infectious disease
type: Class
definition: A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
id: DOID:0050303
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
database_cross_reference: url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/37.html
annotated source: Hepacivirus infectious disease
annotated property: definition

aniseikonia
type: Class
subclass of: DOID 9835
id: DOID:0050304
has_obo_namespace: disease_ontology

Arteriviridae infectious disease
type: Class
definition: A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.
id: DOID:0050305
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/28.html
annotated source: Arteriviridae infectious disease
annotated property: definition

familial abdominal aortic aneurysm
type: Class
id: DOID:0050306
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
deprecated: true

Bornaviridae infectious disease
type: Class
definition: A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
id: DOID:0050307
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bornaviridae
annotated source: Bornaviridae infectious disease
annotated property: definition

Alkhurma hemorrhagic fever
type: Class
subclass of: Kyasanur forest disease
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
id: DOID:0050308
has_obo_namespace: disease_ontology
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alkhurma_virus
database_cross_reference: url:www.episouth.org/download.php?&id=7266
annotated source: Alkhurma hemorrhagic fever
annotated property: definition

Measles virus infectious disease
type: Class
definition: A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person.
id: DOID:0050309
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person.
database_cross_reference: url:http://en.wikipedia.org/wiki/Measles
annotated source: Measles virus infectious disease
annotated property: definition

primary Listeriaceae infectious disease
type: Class
id: DOID:0050310
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Helicobacteraceae infectious disease
type: Class
id: DOID:0050311
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Campylobacteraceae infectious disease
type: Class
id: DOID:0050312
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Brucellaceae infectious disease
type: Class
id: DOID:0050313
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Erysipelotrichaceae infectious disease
type: Class
id: DOID:0050314
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

commensal Clostridiaceae infectious disease
type: Class
id: DOID:0050315
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

commensal Staphylococcaceae infectious disease
type: Class
id: DOID:0050316
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

commensal Streptococcaceae infectious disease
type: Class
id: DOID:0050317
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Burkholderiaceae infectious disease
type: Class
id: DOID:0050318
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Legionellaceae infectious disease
type: Class
id: DOID:0050319
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Alcaligenaceae infectious disease
type: Class
id: DOID:0050320
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

opportunistic Pseudomonadaceae infectious disease
type: Class
id: DOID:0050321
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Vibrionaceae infectious disease
type: Class
id: DOID:0050322
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Coxiellaceae infectious disease
type: Class
id: DOID:0050323
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

physical disorder OBSOLETED TERM
type: Class
definition: A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
id: DOID:0050324
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
database_cross_reference: url:http://en.wikipedia.org/wiki/Physical_disorder
annotated source: physical disorder OBSOLETED TERM
annotated property: definition

genetic disorder
type: Class
definition: A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
id: DOID:0050325
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder
database_cross_reference: url:http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
annotated source: genetic disorder
annotated property: definition

peripheral dysostosis
type: Class
id: DOID:0050327
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation
has_obo_namespace: disease_ontology
deprecated: true

congenital hypothyroidism
type: Class
subclass of: DOID 1459
definition: A hypothyroidism that is present at birth.
id: DOID:0050328
has_alternative_id: DOID:11631
has_alternative_id: DOID:11632
database_cross_reference: ICD10CM:E00.1
database_cross_reference: ICD10CM:E03.1
database_cross_reference: ICD9CM:243
database_cross_reference: MSH:D003409
database_cross_reference: NCI:C26734
database_cross_reference: NCI:C98921
database_cross_reference: OMIM:218700
database_cross_reference: OMIM:225250
database_cross_reference: OMIM:274400
database_cross_reference: OMIM:274500
database_cross_reference: OMIM:274900
database_cross_reference: OMIM:275100
database_cross_reference: OMIM:275200
database_cross_reference: OMIM:607200
database_cross_reference: OMIM:609893
database_cross_reference: OMIM:614450
database_cross_reference: SNOMEDCT_US_2015_03_01:154660000
database_cross_reference: SNOMEDCT_US_2015_03_01:154661001
database_cross_reference: SNOMEDCT_US_2015_03_01:190268003
database_cross_reference: SNOMEDCT_US_2015_03_01:190273009
database_cross_reference: SNOMEDCT_US_2015_03_01:217710005
database_cross_reference: SNOMEDCT_US_2015_03_01:267376007
database_cross_reference: SNOMEDCT_US_2015_03_01:267465007
database_cross_reference: SNOMEDCT_US_2015_03_01:3614006
database_cross_reference: SNOMEDCT_US_2015_03_01:75065003
database_cross_reference: UMLS_CUI:C0010308
database_cross_reference: UMLS_CUI:C0342200
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: cretinism
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
database_cross_reference: CSP2005:2928-6883
annotated target: cretinism
annotated source: congenital hypothyroidism
annotated property: has_exact_synonym

Axiom
annotated target: A hypothyroidism that is present at birth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism
annotated source: congenital hypothyroidism
annotated property: definition

mental disorder
type: Class
definition: A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.
id: DOID:0050329
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.
database_cross_reference: url:http://en.wikipedia.org/wiki/Classification_of_mental_disorders
database_cross_reference: url:http://en.wikipedia.org/wiki/Mental_disorder
annotated source: mental disorder
annotated property: definition

LADD syndrome
type: Class
subclass of: autosomal dominant disease
definition: An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
id: DOID:0050331
has_exact_synonym: LEVY-HOLLISTER SYNDROME
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:149730
has_obo_namespace: disease_ontology
has_exact_synonym: lacrimoauriculodentodigital syndrome

Axiom
annotated target: An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
database_cross_reference: url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome
annotated source: LADD syndrome
annotated property: definition

enlarged vestibular aqueduct
type: Class
subclass of: DOID 2742
id: DOID:0050332
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:600791
has_obo_namespace: disease_ontology

congenital anosmia
type: Class
id: DOID:0050333
has_obo_namespace: disease_ontology
deprecated: true

thiourea tasting
type: Class
id: DOID:0050334
has_exact_synonym: PHENYLTHIOCARBAMIDE TASTING, INCLUDED
has_exact_synonym: PROPYLTHIOURACIL TASTING, INCLUDED
has_obo_namespace: disease_ontology
deprecated: true

bradyopsia
type: Class
subclass of: DOID 5679
definition: A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes.
id: DOID:0050335
database_cross_reference: MSH:C564243
database_cross_reference: OMIM:608415
database_cross_reference: ORDO:75374
database_cross_reference: UMLS_CUI:C1842073
has_obo_namespace: disease_ontology
has_exact_synonym: prolonged electroretinal response suppression

Axiom
annotated target: A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes.
database_cross_reference: PMID:17826834
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/bradyopsia
annotated source: bradyopsia
annotated property: definition

hypophosphatemia
type: Class
subclass of: DOID 2485
id: DOID:0050336
has_obo_namespace: disease_ontology

Burkholderia cepacia infectious disease
type: Class
id: DOID:0050337
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
id: DOID:0050338
has_obo_namespace: disease_ontology

Axiom
annotated target: A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
database_cross_reference: url:http://en.wikipedia.org/wiki/Infectious_disease
annotated source: primary bacterial infectious disease
annotated property: definition

commensal bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
id: DOID:0050339
has_obo_namespace: disease_ontology

Axiom
annotated target: A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
database_cross_reference: url:http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false
annotated source: commensal bacterial infectious disease
annotated property: definition

opportunistic bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
id: DOID:0050340
has_obo_namespace: disease_ontology

Axiom
annotated target: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545
annotated source: opportunistic bacterial infectious disease
annotated property: definition

opportunistic Actinomycetales infectious disease
type: Class
id: DOID:0050341
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

commensal Actinomycetales infectious disease
type: Class
definition: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.
id: DOID:0050342
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.
database_cross_reference: url:www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf
annotated source: commensal Actinomycetales infectious disease
annotated property: definition

Gardnerella vaginalis vaginosis
type: Class
id: DOID:0050343
has_obo_namespace: disease_ontology
deprecated: true

commensal Bifidobacteriaceae infectious disease
type: Class
id: DOID:0050344
has_obo_namespace: disease_ontology
deprecated: true

primary Thermomonosporaceae infectious disease
type: Class
id: DOID:0050345
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Corynebacteriaceae infectious disease
type: Class
id: DOID:0050346
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Mycobacteriaceae infectious disease
type: Class
id: DOID:0050347
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Streptomycetaceae infectious disease
type: Class
id: DOID:0050348
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

opportunistic Nocardiaceae infectious disease
type: Class
id: DOID:0050349
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Clostridiaceae infectious disease
type: Class
id: DOID:0050350
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary Clostridium infectious disease
type: Class
id: DOID:0050351
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

foodborne botulism
type: Class
subclass of: DOID_11976
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
id: DOID:0050352
has_obo_namespace: disease_ontology
in_subset: GOLD
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
database_cross_reference: url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf
annotated source: foodborne botulism
annotated property: definition

wound botulism
type: Class
subclass of: DOID_11976
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
id: DOID:0050353
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs270/en/
annotated source: wound botulism
annotated property: definition

infant botulism
type: Class
subclass of: DOID_11976
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
id: DOID:0050354
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
database_cross_reference: url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf
annotated source: infant botulism
annotated property: definition

opportunistic Burkholderiaceae infectious disease
type: Class
id: DOID:0050355
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Burkholderia cenocepacia infectious disease
type: Class
id: DOID:0050357
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Chlamydiaceae infectious disease
type: Class
id: DOID:0050358
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Bilophila wadsworthia necrotizing fasciitis
type: Class
id: DOID:0050359
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Enterobacteriaceae infectious disease
type: Class
id: DOID:0050360
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

opportunistic Enterobacteriaceae infectious disease
type: Class
id: DOID:0050361
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Elizabethkingia meningoseptica infectious disease
type: Class
id: DOID:0050362
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Capnocytophaga canimorsus infectious disease
type: Class
id: DOID:0050363
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

opportunistic Flavobacteriaceae infectious disease
type: Class
id: DOID:0050364
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Chryseobacterium indologenes infectious disease
type: Class
id: DOID:0050365
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Empedobacter brevis endophthalmitis
type: Class
id: DOID:0050366
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Myroides odoratus necrotizing fasciitis
type: Class
id: DOID:0050367
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Fusobacteriaceae infectious disease
type: Class
id: DOID:0050368
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Mycoplasmataceae infectious disease
type: Class
id: DOID:0050369
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Neisseriaceae infectious disease
type: Class
id: DOID:0050370
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Pasteurellaceae infectious disease
type: Class
id: DOID:0050371
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Haemophilus infectious disease
type: Class
id: DOID:0050372
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Leptospiraceae infectious disease
type: Class
id: DOID:0050373
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Spirochaetaceae infectious disease
type: Class
id: DOID:0050374
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

primary Spirillaceae infectious disease
type: Class
id: DOID:0050375
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

anaplasmosis
type: Class
id: DOID:0050376
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Burkholderia cepacia complex infectious disease
type: Class
has_alternative_id: DOID:0050356
id: DOID:0050377
has_obo_namespace: disease_ontology
deprecated: true

opportunistic Campylobacteraceae infectious disease
type: Class
id: DOID:0050378
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Campylobacter fetus infectious disease
type: Class
id: DOID:0050379
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Campylobacter coli infectious disease
type: Class
id: DOID:0050380
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Chlamydia trachomatis epididymitis
type: Class
id: DOID:0050381
has_obo_namespace: disease_ontology
deprecated: true

glandular tularemia
type: Class
subclass of: DOID 2123
definition: A tularemia that results_in swelling of regional lymph glands.
id: DOID:0050382
has_obo_namespace: disease_ontology

Axiom
annotated target: A tularemia that results_in swelling of regional lymph glands.
database_cross_reference: url:http://www.cdc.gov/tularemia/signssymptoms/
annotated source: glandular tularemia
annotated property: definition

typhoidal tularemia
type: Class
subclass of: DOID 2123
definition: A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
id: DOID:0050383
has_obo_namespace: disease_ontology

Axiom
annotated target: A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
database_cross_reference: url:http://emedicine.medscape.com/article/230923-clinical
annotated source: typhoidal tularemia
annotated property: definition

commensal Helicobacteraceae infectious disease
type: Class
id: DOID:0050384
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Helicobacter infectious disease
type: Class
id: DOID:0050385
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Acinetobacter baumannii pneumonia
type: Class
id: DOID:0050386
has_obo_namespace: disease_ontology
deprecated: true
in_subset: GOLD
in_subset: gram-negative bacterial infectious disease

nonpapillary renal cell carcinoma
type: Class
subclass of: DOID 4455
id: DOID:0050387
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:144700
has_obo_namespace: disease_ontology

Bacteroides fragilis peritonitis
type: Class
id: DOID:0050388
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Capnocytophaga canimorsus meningitis
type: Class
id: DOID:0050389
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Capnocytophaga canimorsus endocarditis
type: Class
id: DOID:0050390
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Elizabethkingia meningoseptica meningitis
type: Class
id: DOID:0050391
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

streptococcal necrotizing fasciitis
type: Class
id: DOID:0050392
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Chryseobacterium indologenes pneumonia
type: Class
id: DOID:0050393
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

nocardial pneumonia
type: Class
id: DOID:0050394
has_obo_namespace: disease_ontology
deprecated: true

nocardial cellulitis
type: Class
id: DOID:0050395
has_obo_namespace: disease_ontology
deprecated: true

nocardial keratitis
type: Class
id: DOID:0050396
has_obo_namespace: disease_ontology
deprecated: true

cerebral Bilophila wadsworthia infectious disease
type: Class
id: DOID:0050397
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Carrion's Disease
type: Class
subclass of: bartonellosis
definition: A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
has_exact_synonym: Carrion Disease
id: DOID:0050398
has_obo_namespace: disease_ontology
has_exact_synonym: oroya fever

Axiom
annotated target: A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
database_cross_reference: url:http://emedicine.medscape.com/article/213169-clinical#a0217
database_cross_reference: url:http://en.wikipedia.org/wiki/Carrion%27s_disease
annotated source: Carrion's Disease
annotated property: definition

Bordetella pertussis whooping cough
type: Class
id: DOID:0050399
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Pseudomonas urinary tract infectious disease
type: Class
id: DOID:0050400
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Pseudomonas endocarditis
type: Class
id: DOID:0050401
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Pseudomonas keratitis
type: Class
id: DOID:0050402
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Mycoplasmatales infectious disease
type: Class
id: DOID:0050403
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Mycoplasmataceae infectious disease
type: Class
id: DOID:0050404
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Mycoplasma genitalium urethritis
type: Class
id: DOID:0050405
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Yersinia pseudotuberculosis mesenteric lymphadenitis
type: Class
id: DOID:0050406
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

commensal Mycoplasma infectious disease
type: Class
id: DOID:0050407
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Staphylococcus aureus ecthyma
type: Class
id: DOID:0050408
has_obo_namespace: disease_ontology
deprecated: true

Streptococcus pyogenes ecthyma
type: Class
id: DOID:0050409
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

streptococcal erysipelas
type: Class
id: DOID:0050410
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Staphylococcus aureus erysipelas
type: Class
id: DOID:0050411
has_obo_namespace: disease_ontology
deprecated: true

Streptococcus impetigo
type: Class
id: DOID:0050412
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Staphylococcus aureus impetigo
type: Class
id: DOID:0050413
has_obo_namespace: disease_ontology
deprecated: true

Streptococcus lymphangitis
type: Class
id: DOID:0050414
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Staphylococcus aureus lymphangitis
type: Class
id: DOID:0050415
has_obo_namespace: disease_ontology
deprecated: true

Streptococcus agalactiae meningitis
type: Class
id: DOID:0050416
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Streptococcus equisimilis meningitis
type: Class
id: DOID:0050417
has_exact_synonym: Streptococcus dysgalactiae subsp. equisimilis meningitis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Streptococcus zooepidemicus meningitis
type: Class
id: DOID:0050418
has_exact_synonym: Streptococcus equi subsp. zooepidemicus meningitis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

complement factor I deficiency
type: Class
subclass of: DOID 626
has_exact_synonym: C3 INACTIVATOR DEFICIENCY
has_exact_synonym: COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
id: DOID:0050419
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:610984
has_obo_namespace: disease_ontology

primary Streptococcaceae infectious disease
type: Class
id: DOID:0050420
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

primary streptococcal infectious disease
type: Class
id: DOID:0050421
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Yersinia pseudotuberculosis gastroenteritis
type: Class
id: DOID:0050422
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

enteroaggregative Escherichia coli infectious disease
type: Class
id: DOID:0050423
has_obo_namespace: disease_ontology
has_exact_synonym: enteroaggregative E.coli infection
deprecated: true

familial adenomatous polyposis
type: Class
subclass of: autosomal dominant disease
definition: An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
id: DOID:0050424
database_cross_reference: MSH:D011125
database_cross_reference: NCI:C3339
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:175100
database_cross_reference: OMIM:608456
database_cross_reference: SNOMEDCT_US_2015_03_01:154609001
database_cross_reference: SNOMEDCT_US_2015_03_01:188828009
database_cross_reference: SNOMEDCT_US_2015_03_01:269636003
database_cross_reference: SNOMEDCT_US_2015_03_01:423471004
database_cross_reference: SNOMEDCT_US_2015_03_01:70921007
database_cross_reference: SNOMEDCT_US_2015_03_01:72900001
database_cross_reference: UMLS_CUI:C0032580
database_cross_reference: UMLS_CUI:C2713442
database_cross_reference: UMLS_CUI:C2713443
has_exact_synonym: adenomatous polyposis of the colon
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
database_cross_reference: DO:ls
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis
database_cross_reference: url:http://www.omim.org/entry/175100?search=adenomatous%20polyposis
annotated source: familial adenomatous polyposis
annotated property: definition

restless legs syndrome
type: Class
subclass of: DOID 331
definition: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
id: DOID:0050425
database_cross_reference: EFO:0004270
database_cross_reference: ICD10CM:G25.81
database_cross_reference: ICD9CM:333.94
database_cross_reference: MSH:D012148
database_cross_reference: NCI:C84501
database_cross_reference: OMIM:102300
database_cross_reference: OMIM:608830
database_cross_reference: OMIM:610438
database_cross_reference: OMIM:610439
database_cross_reference: OMIM:611185
database_cross_reference: OMIM:611242
database_cross_reference: OMIM:612853
database_cross_reference: OMIM:615197
database_cross_reference: SNOMEDCT_US_2015_03_01:32914008
database_cross_reference: SNOMEDCT_US_2015_03_01:393579008
database_cross_reference: UMLS_CUI:C0035258
has_exact_synonym: WED
has_exact_synonym: Willis-Ekbom disease
has_exact_synonym: Wittmaack-Ekbom syndrome
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
database_cross_reference: url:http://en.wikipedia.org/wiki/Restless_legs_syndrome
database_cross_reference: url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm
annotated source: restless legs syndrome
annotated property: definition

Stevens-Johnson syndrome
type: Class
subclass of: DOID 37
id: DOID:0050426
database_cross_reference: EFO:0004276
database_cross_reference: ICD10CM:L51.1
database_cross_reference: ICD10CM:L51.2
database_cross_reference: ICD9CM:695.13
database_cross_reference: ICD9CM:695.15
database_cross_reference: MSH:D013262
database_cross_reference: NCI:C79484
database_cross_reference: NCI:C79777
database_cross_reference: SNOMEDCT_US_2015_03_01:156362004
database_cross_reference: SNOMEDCT_US_2015_03_01:200919006
database_cross_reference: SNOMEDCT_US_2015_03_01:23067006
database_cross_reference: SNOMEDCT_US_2015_03_01:238819008
database_cross_reference: SNOMEDCT_US_2015_03_01:267848009
database_cross_reference: SNOMEDCT_US_2015_03_01:403609001
database_cross_reference: SNOMEDCT_US_2015_03_01:73442001
database_cross_reference: UMLS_CUI:C0014518
database_cross_reference: UMLS_CUI:C0038325
database_cross_reference: UMLS_CUI:C1274933
database_cross_reference: UMLS_CUI:C3658301
database_cross_reference: UMLS_CUI:C3658302
has_obo_namespace: disease_ontology

xeroderma pigmentosum
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
id: DOID:0050427
database_cross_reference: ICD10CM:Q82.1
database_cross_reference: MSH:D014983
database_cross_reference: NCI:C3452
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:278700
database_cross_reference: OMIM:278720
database_cross_reference: OMIM:278730
database_cross_reference: OMIM:278740
database_cross_reference: OMIM:278750
database_cross_reference: OMIM:278760
database_cross_reference: OMIM:278780
database_cross_reference: OMIM:610651
database_cross_reference: SNOMEDCT_US_2015_03_01:44600005
database_cross_reference: UMLS_CUI:C0043346
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract
annotated source: xeroderma pigmentosum
annotated property: definition

nonepidermolytic palmoplantar keratoderma
type: Class
subclass of: DOID 3390
definition: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
id: DOID:0050428
database_cross_reference: MSH:D015776
database_cross_reference: NCI:C3147
database_cross_reference: OMIM:600962
database_cross_reference: OMIM:613000
database_cross_reference: OMIM:615735
database_cross_reference: ORDO:2337
database_cross_reference: SNOMEDCT_US_2015_03_01:205584004
database_cross_reference: SNOMEDCT_US_2015_03_01:28596004
database_cross_reference: SNOMEDCT_US_2015_03_01:399955009
database_cross_reference: SNOMEDCT_US_2015_03_01:400123002
database_cross_reference: SNOMEDCT_US_2015_03_01:81206005
has_exact_synonym: Thost-Unna Syndrome
database_cross_reference: UMLS_CUI:C0022584
database_cross_reference: UMLS_CUI:C3489771
has_exact_synonym: Unna-Thost Syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: diffuse nonepidermolytic palmomplantar keratoderma
has_obo_namespace: disease_ontology
has_exact_synonym: tylosis
in_subset: DO MGI slim

Axiom
annotated target: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
database_cross_reference: url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma
annotated source: nonepidermolytic palmoplantar keratoderma
annotated property: definition

Hailey-Hailey disease
type: Class
subclass of: DOID 37
has_exact_synonym: BENIGN CHRONIC PEMPHIGUS
id: DOID:0050429
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: MSH:D016506
database_cross_reference: NCI:C82865
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:169600
has_exact_synonym: Pemphigus, Benign Familial
database_cross_reference: SNOMEDCT_US_2015_03_01:79468000
database_cross_reference: UMLS_CUI:C0085106
has_obo_namespace: disease_ontology

multiple endocrine neoplasia type 2A
type: Class
subclass of: autosomal dominant disease
definition: An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
id: DOID:0050430
database_cross_reference: ICD10CM:E31.22
database_cross_reference: ICD9CM:258.02
has_exact_synonym: MEN2A
database_cross_reference: MSH:D018813
database_cross_reference: NCI:C3226
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:171400
database_cross_reference: ORDO:247698
database_cross_reference: SNOMEDCT_US_2015_03_01:61808009
has_exact_synonym: Sipple syndrome
database_cross_reference: UMLS_CUI:C0025268
has_obo_namespace: disease_ontology
has_exact_synonym: multiple endocrine neoplasia II

Axiom
annotated target: An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
database_cross_reference: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15965261
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract
annotated source: multiple endocrine neoplasia type 2A
annotated property: definition

arrhythmogenic right ventricular cardiomyopathy
type: Class
subclass of: intrinsic cardiomyopathy
has_exact_synonym: ARVC
has_exact_synonym: ARVC cardiomyopathy
has_exact_synonym: ARVD
definition: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
id: DOID:0050431
database_cross_reference: MSH:D019571
database_cross_reference: NCI:C84571
database_cross_reference: OMIM:107970
database_cross_reference: OMIM:600996
database_cross_reference: OMIM:602086
database_cross_reference: OMIM:602087
database_cross_reference: OMIM:604400
database_cross_reference: OMIM:604401
database_cross_reference: OMIM:607450
database_cross_reference: OMIM:609040
database_cross_reference: OMIM:610193
database_cross_reference: OMIM:610476
database_cross_reference: OMIM:611528
database_cross_reference: OMIM:615616
database_cross_reference: ORDO:247
database_cross_reference: SNOMEDCT_US_2015_03_01:253528005
database_cross_reference: SNOMEDCT_US_2015_03_01:281170005
database_cross_reference: UMLS_CUI:C0349788
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: arrhythmogenic right ventricular dysplasia
has_exact_synonym: arrhythmogenic right ventricular dysplasia/cardiomyopathy
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
database_cross_reference: url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy
database_cross_reference: url:http://my.clevelandclinic.org/services/heart/disorders/arvd
database_cross_reference: url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated property: definition

Asperger syndrome
type: Class
subclass of: autism spectrum disorder
definition: An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
id: DOID:0050432
database_cross_reference: ICD10CM:F84.5
database_cross_reference: MSH:D020817
database_cross_reference: NCI:C97159
database_cross_reference: OMIM:300494
database_cross_reference: OMIM:300497
database_cross_reference: OMIM:608631
database_cross_reference: OMIM:608638
database_cross_reference: OMIM:608781
database_cross_reference: OMIM:609954
database_cross_reference: ORDO:1162
database_cross_reference: SNOMEDCT_US_2015_03_01:154879004
database_cross_reference: SNOMEDCT_US_2015_03_01:192586006
database_cross_reference: SNOMEDCT_US_2015_03_01:23560001
database_cross_reference: UMLS_CUI:C0236792
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
database_cross_reference: url:http://en.wikipedia.org/wiki/Asperger_syndrome
database_cross_reference: url:www.neurodevnet.ca
annotated source: Asperger syndrome
annotated property: definition

fatal familial insomnia
type: Class
subclass of: DOID 649
id: DOID:0050433
database_cross_reference: ICD10CM:A81.83
database_cross_reference: ICD9CM:046.72
database_cross_reference: MSH:D034062
database_cross_reference: NCI:C84711
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:600072
database_cross_reference: SNOMEDCT_US_2015_03_01:83157008
database_cross_reference: UMLS_CUI:C0206042
has_obo_namespace: disease_ontology

Andersen-Tawil syndrome
type: Class
subclass of: DOID 2843
definition: A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
has_exact_synonym: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
has_exact_synonym: Andersen syndrome
id: DOID:0050434
has_exact_synonym: Long QT syndrome 7
database_cross_reference: MSH:D050030
database_cross_reference: NCI:C84559
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:170390
database_cross_reference: SNOMEDCT_US_2015_03_01:422348008
database_cross_reference: UMLS_CUI:C1563715
has_obo_namespace: disease_ontology

Axiom
annotated target: A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
database_cross_reference: url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome
database_cross_reference: url:http://en.wikipedia.org/wiki/Long_QT_syndrome
annotated source: Andersen-Tawil syndrome
annotated property: definition

mulibrey nanism
type: Class
subclass of: autosomal recessive disease
id: DOID:0050436
database_cross_reference: MSH:D050336
has_exact_synonym: Muscle-Liver-Brain-Eye Nanism
database_cross_reference: NCI:C84906
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:253250
has_exact_synonym: PERICARDIAL CONSTRICTION AND GROWTH FAILURE
has_exact_synonym: Perheentupa Syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:81604003
database_cross_reference: UMLS_CUI:C0524582
has_obo_namespace: disease_ontology

Danon disease
type: Class
subclass of: DOID 3211
has_exact_synonym: ANTOPOL DISEASE
id: DOID:0050437
database_cross_reference: MSH:D052120
database_cross_reference: NCI:C84735
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:300257
has_exact_synonym: PSEUDOGLYCOGENOSIS II
database_cross_reference: SNOMEDCT_US_2015_03_01:419097006
database_cross_reference: UMLS_CUI:C0878677
has_obo_namespace: disease_ontology

Frasier syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0050438
database_cross_reference: MSH:D052159
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:136680
database_cross_reference: SNOMEDCT_US_2015_03_01:445431000
database_cross_reference: UMLS_CUI:C0950122
has_obo_namespace: disease_ontology

Usher syndrome
type: Class
subclass of: autosomal recessive disease
definition: A syndrome characterized by a combination of hearing loss and visual impairment.
id: DOID:0050439
database_cross_reference: MSH:D052245
database_cross_reference: NCI:C85217
database_cross_reference: OMIM:276900
database_cross_reference: OMIM:276901
database_cross_reference: OMIM:276902
database_cross_reference: OMIM:276904
database_cross_reference: OMIM:601067
database_cross_reference: OMIM:602083
database_cross_reference: OMIM:602097
database_cross_reference: OMIM:605472
database_cross_reference: OMIM:606943
database_cross_reference: OMIM:611383
database_cross_reference: OMIM:612632
database_cross_reference: OMIM:614504
database_cross_reference: OMIM:614869
database_cross_reference: OMIM:614990
database_cross_reference: ORDO:886
database_cross_reference: SNOMEDCT_US_2015_03_01:57838006
database_cross_reference: SNOMEDCT_US_2015_03_01:73119000
database_cross_reference: UMLS_CUI:C0271097
database_cross_reference: UMLS_CUI:C1568248
database_cross_reference: UMLS_CUI:C1568249
database_cross_reference: UMLS_CUI:C2931205
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by a combination of hearing loss and visual impairment.
database_cross_reference: url:http://en.wikipedia.org/wiki/Usher_syndrome
annotated source: Usher syndrome
annotated property: definition

familial partial lipodystrophy
type: Class
subclass of: DOID 811
definition: A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
id: DOID:0050440
has_exact_synonym: Dunnigan Syndrome
has_exact_synonym: Koberling-Dunnigan Syndrome
database_cross_reference: MSH:D052496
database_cross_reference: NCI:C84708
database_cross_reference: OMIM:151660
database_cross_reference: OMIM:604367
database_cross_reference: OMIM:608600
database_cross_reference: OMIM:613877
database_cross_reference: OMIM:615238
database_cross_reference: SNOMEDCT_US_2015_03_01:49292002
database_cross_reference: UMLS_CUI:C0271694
database_cross_reference: UMLS_CUI:C1720859
database_cross_reference: UMLS_CUI:C1720860
database_cross_reference: UMLS_CUI:C1720861
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy
database_cross_reference: url:http://omim.org/entry/608600
annotated source: familial partial lipodystrophy
annotated property: definition

mucosulfatidosis
type: Class
subclass of: DOID 1927
id: DOID:0050441
database_cross_reference: MSH:D052517
database_cross_reference: NCI:C84908
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:272200
database_cross_reference: SNOMEDCT_US_2015_03_01:254076009
database_cross_reference: SNOMEDCT_US_2015_03_01:54898003
has_exact_synonym: Sulfatidosis, Juvenile, Austin Type
database_cross_reference: UMLS_CUI:C0268263
database_cross_reference: UMLS_CUI:C1720864
has_obo_namespace: disease_ontology
has_exact_synonym: multiple sulfatase deficiency disease

infantile refsum disease
type: Class
subclass of: DOID 906
id: DOID:0050444
database_cross_reference: ICD10CM:G60.1
has_exact_synonym: INFANTILE PHYTANIC ACID STORAGE DISEASE
database_cross_reference: MSH:D052919
database_cross_reference: NCI:C84789
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:266510
database_cross_reference: SNOMEDCT_US_2015_03_01:238062008
database_cross_reference: UMLS_CUI:C0282527
has_obo_namespace: disease_ontology

X-linked hypophosphatemic rickets
type: Class
subclass of: rickets
definition: A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
id: DOID:0050445
has_exact_synonym: Hypophosphatemia, Vitamin D-Resistant Rickets
database_cross_reference: ICD10:E83.31
database_cross_reference: MSH:D053098
database_cross_reference: NCI:C85234
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:300554
database_cross_reference: OMIM:307800
has_exact_synonym: Rickets, Vitamin D-Resistant
database_cross_reference: SNOMEDCT_US_2015_03_01:82236004
database_cross_reference: UMLS_CUI:C0733682
database_cross_reference: UMLS_CUI:C1845168
database_cross_reference: UMLS_CUI:C3540852
has_exact_synonym: Vitamin D-Resistant Rickets, X-Linked
has_exact_synonym: X-linked hypophosphatemia
has_obo_namespace: disease_ontology
has_exact_synonym: hypophosphatemic rickets X-linked dominant
in_subset: DO MGI slim

Axiom
annotated target: A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
database_cross_reference: url:http://emedicine.medscape.com/article/922305-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11911&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&title=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&search=Disease_Search_Simple
annotated source: X-linked hypophosphatemic rickets
annotated property: definition

hereditary mucosal leukokeratosis
type: Class
subclass of: DOID 37
definition: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
id: DOID:0050448
database_cross_reference: MSH:D053529
database_cross_reference: NCI:C84760
database_cross_reference: OMIM:193900
database_cross_reference: OMIM:615785
database_cross_reference: ORDO:171723
database_cross_reference: SNOMEDCT_US_2015_03_01:389203001
database_cross_reference: SNOMEDCT_US_2015_03_01:62953009
database_cross_reference: SNOMEDCT_US_2015_03_01:85388002
database_cross_reference: UMLS_CUI:C1721005
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: white sponge nevus
has_exact_synonym: white sponge nevus of Cannon
in_subset: DO MGI slim

Axiom
annotated target: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
database_cross_reference: url:http://en.wikipedia.org/wiki/White_sponge_nevus
database_cross_reference: url:http://omim.org/entry/193900
annotated source: hereditary mucosal leukokeratosis
annotated property: definition

pachyonychia congenita
type: Class
subclass of: autosomal dominant disease
id: DOID:0050449
has_exact_synonym: Jackson-Lawler Type Pachyonychia Congenita
has_exact_synonym: Jadassohn-Lewandowsky Syndrome
database_cross_reference: MSH:D053549
database_cross_reference: NCI:C84986
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:167200
database_cross_reference: OMIM:167210
has_exact_synonym: PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
has_exact_synonym: Pachyonychia Congenita Type 1
database_cross_reference: SNOMEDCT_US_2015_03_01:205600001
database_cross_reference: SNOMEDCT_US_2015_03_01:39427000
database_cross_reference: UMLS_CUI:C0265334
database_cross_reference: UMLS_CUI:C1706595
database_cross_reference: UMLS_CUI:C1721007
has_obo_namespace: disease_ontology

Gitelman syndrome
type: Class
subclass of: DOID 447
id: DOID:0050450
has_exact_synonym: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
database_cross_reference: MSH:C531690
database_cross_reference: MSH:D053579
database_cross_reference: NCI:C84730
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:263800
database_cross_reference: SNOMEDCT_US_2015_03_01:3188003
database_cross_reference: SNOMEDCT_US_2015_03_01:707756004
database_cross_reference: UMLS_CUI:C0268450
has_obo_namespace: disease_ontology

Brugada syndrome
type: Class
subclass of: heart conduction disease
definition: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
id: DOID:0050451
database_cross_reference: MSH:D053840
database_cross_reference: NCI:C71059
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:601144
database_cross_reference: OMIM:611777
database_cross_reference: OMIM:611875
database_cross_reference: OMIM:611876
database_cross_reference: OMIM:612838
database_cross_reference: OMIM:613119
database_cross_reference: OMIM:613120
database_cross_reference: OMIM:613123
database_cross_reference: SNOMEDCT_US_2015_03_01:418818005
database_cross_reference: UMLS_CUI:C1142166
database_cross_reference: UMLS_CUI:C1721096
database_cross_reference: UMLS_CUI:C1955837
has_obo_namespace: disease_ontology

Axiom
annotated target: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
database_cross_reference: url:http://en.wikipedia.org/wiki/Brugada_syndrome
annotated source: Brugada syndrome
annotated property: definition

mevalonic aciduria
type: Class
subclass of: DOID 906
id: DOID:0050452
database_cross_reference: MSH:D054078
has_exact_synonym: Mevalonate Kinase Deficiency
database_cross_reference: NCI:C84890
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:610377
database_cross_reference: SNOMEDCT_US_2015_03_01:124327008
database_cross_reference: SNOMEDCT_US_2015_03_01:234538002
database_cross_reference: UMLS_CUI:C0342731
database_cross_reference: UMLS_CUI:C0398691
database_cross_reference: UMLS_CUI:C1959626
has_obo_namespace: disease_ontology

lissencephaly
type: Class
subclass of: DOID 2490
definition: A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
id: DOID:0050453
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: ICD10CM:Q04.8
database_cross_reference: MSH:D054082
database_cross_reference: NCI:C103921
database_cross_reference: OMIM:257320
database_cross_reference: OMIM:300067
database_cross_reference: OMIM:300215
database_cross_reference: OMIM:607432
database_cross_reference: OMIM:611603
database_cross_reference: OMIM:614019
database_cross_reference: OMIM:615191
database_cross_reference: ORDO:102009
database_cross_reference: SNOMEDCT_US_2015_03_01:204036008
database_cross_reference: SNOMEDCT_US_2015_03_01:23024003
database_cross_reference: SNOMEDCT_US_2015_03_01:26425000
database_cross_reference: UMLS_CUI:C0266463
database_cross_reference: UMLS_CUI:C0266483
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lissencephaly
database_cross_reference: url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm
annotated source: lissencephaly
annotated property: definition

periventricular nodular heterotopia
type: Class
subclass of: DOID 2490
definition: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
id: DOID:0050454
database_cross_reference: MSH:C548481
database_cross_reference: MSH:D054091
database_cross_reference: OMIM:300049
database_cross_reference: OMIM:300537
database_cross_reference: OMIM:608097
database_cross_reference: OMIM:608098
database_cross_reference: OMIM:612881
database_cross_reference: OMIM:615544
database_cross_reference: ORDO:98892
database_cross_reference: SNOMEDCT_US_2015_03_01:448227009
database_cross_reference: UMLS_CUI:C1848213
database_cross_reference: UMLS_CUI:C1868720
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: periventricular heterotopia
in_subset: DO MGI slim

Axiom
annotated target: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia
annotated source: periventricular nodular heterotopia
annotated property: definition

arachnodactyly
type: Class
id: DOID:0050455
has_obo_namespace: disease_ontology
deprecated: true

Buruli ulcer disease
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
has_exact_synonym: Bairnsdale ulcer
id: DOID:0050456
has_exact_synonym: Daintree ulcer
database_cross_reference: ICD10CM:A31.1
database_cross_reference: MSH:D054312
has_exact_synonym: Mossman ulcer
database_cross_reference: NCI:C84604
database_cross_reference: SNOMEDCT_US_2015_03_01:15845006
database_cross_reference: SNOMEDCT_US_2015_03_01:186343005
has_exact_synonym: Searl ulcer
has_exact_synonym: Searle's ulcer
database_cross_reference: UMLS_CUI:C0085568
has_obo_namespace: disease_ontology

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Buruli_ulcer
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs199/en/
annotated source: Buruli ulcer disease
annotated property: definition

Sertoli cell-only syndrome
type: Class
subclass of: DOID_12336
has_exact_synonym: DEL CASTILLO SYNDROME
id: DOID:0050457
has_exact_synonym: Germinal Cell Aplasia
database_cross_reference: MSH:D054331
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:305700
database_cross_reference: OMIM:400042
database_cross_reference: SNOMEDCT_US_2015_03_01:73465006
database_cross_reference: UMLS_CUI:C1384583
has_obo_namespace: disease_ontology

juvenile myelomonocytic leukemia
type: Class
subclass of: DOID 4972
id: DOID:0050458
database_cross_reference: ICD10CM:C93.3
database_cross_reference: ICD10CM:C93.30
database_cross_reference: MSH:D054429
database_cross_reference: NCI:C9233
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:607785
database_cross_reference: SNOMEDCT_US_2015_03_01:128832006
database_cross_reference: SNOMEDCT_US_2015_03_01:277587001
database_cross_reference: SNOMEDCT_US_2015_03_01:445227008
database_cross_reference: UMLS_CUI:C0349639
has_obo_namespace: disease_ontology

hyperphosphatemia
type: Class
subclass of: DOID 2485
id: DOID:0050459
database_cross_reference: MSH:D054559
database_cross_reference: NCI:C113750
database_cross_reference: SNOMEDCT_US_2015_03_01:20165001
database_cross_reference: UMLS_CUI:C0085681
has_obo_namespace: disease_ontology

Wolf-Hirschhorn syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 4p deletion syndrome
id: DOID:0050460
has_alternative_id: DOID:6684
database_cross_reference: ICD10CM:Q93.3
database_cross_reference: MSH:D054877
database_cross_reference: NCI:C35528
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:194190
has_exact_synonym: PITT SYNDROME
has_exact_synonym: Pitt-Rogers-Danks Syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:17122004
database_cross_reference: UMLS_CUI:C0796117
database_cross_reference: UMLS_CUI:C1956097
has_exact_synonym: chromosome 4p16.3 deletion syndrome
has_obo_namespace: disease_ontology

aspartylglucosaminuria
type: Class
subclass of: DOID 3211
has_exact_synonym: ASPARTYLGLUCOSAMINIDASE DEFICIENCY
id: DOID:0050461
has_exact_synonym: GLYCOSYLASPARAGINASE DEFICIENCY
database_cross_reference: ICD10CM:E77.1
database_cross_reference: MSH:D054880
database_cross_reference: NCI:C61273
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:208400
database_cross_reference: SNOMEDCT_US_2015_03_01:54954004
database_cross_reference: UMLS_CUI:C0268225
has_exact_synonym: aspartylglycosaminuria
has_obo_namespace: disease_ontology

Antley-Bixler syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
id: DOID:0050462
database_cross_reference: MSH:D054882
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:201750
database_cross_reference: OMIM:207410
database_cross_reference: SNOMEDCT_US_2015_03_01:62964007
database_cross_reference: UMLS_CUI:C1860042
database_cross_reference: UMLS_CUI:C2350233
database_cross_reference: UMLS_CUI:C2936791
has_obo_namespace: disease_ontology
has_exact_synonym: trapezoidocephaly-synostosis syndrome

Axiom
annotated target: An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome
annotated source: Antley-Bixler syndrome
annotated property: definition

campomelic dysplasia
type: Class
subclass of: DOID 2256
has_exact_synonym: Acampomelic Campomelic Dysplasia
definition: An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
id: DOID:0050463
database_cross_reference: MSH:D055036
database_cross_reference: NCI:C84609
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:114290
database_cross_reference: SNOMEDCT_US_2015_03_01:74928006
database_cross_reference: UMLS_CUI:C1861922
database_cross_reference: UMLS_CUI:C1861923
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
database_cross_reference: url:http://en.wikipedia.org/wiki/Campomelic_dysplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia
database_cross_reference: url:http://www.healthline.com/galecontent/campomelic-dysplasia-1
annotated source: campomelic dysplasia
annotated property: definition

Farber lipogranulomatosis
type: Class
subclass of: DOID 9455
has_exact_synonym: Acid Ceramidase Deficiency
id: DOID:0050464
has_exact_synonym: Farber Disease
database_cross_reference: MSH:D055577
has_exact_synonym: N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
database_cross_reference: NCI:C84710
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:228000
database_cross_reference: SNOMEDCT_US_2015_03_01:79935000
database_cross_reference: UMLS_CUI:C0268255
has_obo_namespace: disease_ontology

Muir-Torre syndrome
type: Class
subclass of: DOID 3883
id: DOID:0050465
database_cross_reference: MSH:D055653
database_cross_reference: NCI:C84905
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:158320
database_cross_reference: SNOMEDCT_US_2015_03_01:403824007
database_cross_reference: UMLS_CUI:C1321489
has_obo_namespace: disease_ontology

Loeys-Dietz syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0050466
database_cross_reference: MSH:D055947
database_cross_reference: NCI:C75006
database_cross_reference: OMIM:608967
database_cross_reference: OMIM:609192
database_cross_reference: OMIM:610168
database_cross_reference: OMIM:610380
database_cross_reference: OMIM:613795
database_cross_reference: OMIM:614816
database_cross_reference: ORDO:60030
database_cross_reference: SNOMEDCT_US_2015_03_01:446263001
database_cross_reference: UMLS_CUI:C1836635
database_cross_reference: UMLS_CUI:C2697932
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

erythrokeratodermia variabilis
type: Class
subclass of: DOID 37
id: DOID:0050467
has_exact_synonym: Erythrokeratodermia Figurata Variabilis
has_exact_synonym: Greither Disease
database_cross_reference: MSH:C566591
database_cross_reference: MSH:D056266
database_cross_reference: NCI:C84696
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:133200
database_cross_reference: SNOMEDCT_US_2015_03_01:254184006
database_cross_reference: SNOMEDCT_US_2015_03_01:70041004
database_cross_reference: UMLS_CUI:C0265961
database_cross_reference: UMLS_CUI:C1851480
has_obo_namespace: disease_ontology

yellow nail syndrome
type: Class
subclass of: DOID 225
definition: A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
id: DOID:0050468
database_cross_reference: ICD10CM:L60.5
database_cross_reference: MSH:D056684
database_cross_reference: NCI:C85238
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:153300
database_cross_reference: SNOMEDCT_US_2015_03_01:400211001
database_cross_reference: SNOMEDCT_US_2015_03_01:45342007
database_cross_reference: UMLS_CUI:C0221348
has_obo_namespace: disease_ontology

Axiom
annotated target: A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract
annotated source: yellow nail syndrome
annotated property: definition

Costello syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0050469
has_exact_synonym: FCS SYNDROME
has_exact_synonym: Faciocutaneoskeletal Syndrome
database_cross_reference: MSH:D056685
database_cross_reference: NCI:C84652
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:218040
database_cross_reference: SNOMEDCT_US_2015_03_01:205803001
database_cross_reference: SNOMEDCT_US_2015_03_01:309776008
database_cross_reference: UMLS_CUI:C0587248
has_obo_namespace: disease_ontology

Donohue Syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050470
has_exact_synonym: Leprechaunism
database_cross_reference: MSH:D056731
database_cross_reference: NCI:C84676
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:246200
database_cross_reference: SNOMEDCT_US_2015_03_01:111307005
database_cross_reference: SNOMEDCT_US_2015_03_01:33559001
database_cross_reference: UMLS_CUI:C0265344
database_cross_reference: UMLS_CUI:C0271695
has_obo_namespace: disease_ontology

Carney complex
type: Class
subclass of: autosomal dominant disease
definition: An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
has_exact_synonym: Carney Complex, Type 1
has_exact_synonym: Carney Complex, Type 2
has_exact_synonym: Carney Syndrome
id: DOID:0050471
has_exact_synonym: LAMB Syndrome
database_cross_reference: MSH:D056733
has_exact_synonym: NAME Syndrome
database_cross_reference: NCI:C4705
database_cross_reference: OMIM:160980
database_cross_reference: OMIM:605244
database_cross_reference: OMIM:608837
database_cross_reference: ORDO:1359
database_cross_reference: SNOMEDCT_US_2015_03_01:239132009
database_cross_reference: UMLS_CUI:C0406810
database_cross_reference: UMLS_CUI:C1854540
database_cross_reference: UMLS_CUI:C2607929
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carney_complex
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carney-complex
annotated source: Carney complex
annotated property: definition

monilethrix
type: Class
subclass of: autosomal dominant disease
id: DOID:0050472
database_cross_reference: ICD10CM:Q84.1
database_cross_reference: MSH:D056734
database_cross_reference: NCI:C84894
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:158000
database_cross_reference: SNOMEDCT_US_2015_03_01:205596006
database_cross_reference: SNOMEDCT_US_2015_03_01:276482004
database_cross_reference: SNOMEDCT_US_2015_03_01:69488000
database_cross_reference: UMLS_CUI:C0546966
has_obo_namespace: disease_ontology

Alstrom syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
id: DOID:0050473
database_cross_reference: MSH:D056769
database_cross_reference: NCI:C84549
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:203800
database_cross_reference: SNOMEDCT_US_2015_03_01:63702009
database_cross_reference: UMLS_CUI:C0268425
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alstrom_syndrome
annotated source: Alstrom syndrome
annotated property: definition

Netherton syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050474
database_cross_reference: MSH:D056770
database_cross_reference: NCI:C84922
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:256500
database_cross_reference: SNOMEDCT_US_2015_03_01:205555008
database_cross_reference: SNOMEDCT_US_2015_03_01:239058007
database_cross_reference: SNOMEDCT_US_2015_03_01:254127001
database_cross_reference: SNOMEDCT_US_2015_03_01:312514006
database_cross_reference: SNOMEDCT_US_2015_03_01:34638006
database_cross_reference: SNOMEDCT_US_2015_03_01:54336006
database_cross_reference: UMLS_CUI:C0265962
has_obo_namespace: disease_ontology

Weill-Marchesani syndrome
type: Class
subclass of: autosomal genetic disease
definition: An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
id: DOID:0050475
has_exact_synonym: GEMSS syndrome
database_cross_reference: MSH:D056846
has_exact_synonym: Marchesani-Weill Syndrome
has_exact_synonym: Mesodermal Dysmorphodystrophy, Congenital
database_cross_reference: NCI:C85226
database_cross_reference: OMIM:277600
database_cross_reference: OMIM:608328
database_cross_reference: OMIM:613195
database_cross_reference: OMIM:614819
database_cross_reference: ORDO:3449
database_cross_reference: SNOMEDCT_US_2015_03_01:205801004
database_cross_reference: SNOMEDCT_US_2015_03_01:2884008
has_exact_synonym: Spherophakia Brachymorphia Syndrome
database_cross_reference: UMLS_CUI:C0265313
database_cross_reference: UMLS_CUI:C1869114
database_cross_reference: UMLS_CUI:C1869115
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
has_exact_synonym: congenital mesodermal dystrophy
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome
annotated source: Weill-Marchesani syndrome
annotated property: definition

Barth syndrome
type: Class
subclass of: DOID 3146
has_exact_synonym: 3-methylglutaconicaciduria type 2
has_exact_synonym: 3-methylglutaconicaciduria type II
definition: A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
id: DOID:0050476
database_cross_reference: ICD10CM:E78.71
has_exact_synonym: MGA Type 2
has_exact_synonym: MGA type II
database_cross_reference: MSH:D056889
database_cross_reference: NCI:C84585
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:302060
database_cross_reference: SNOMEDCT_US_2015_03_01:297231002
database_cross_reference: UMLS_CUI:C0574083
has_obo_namespace: disease_ontology

Axiom
annotated target: A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Barth_syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1
database_cross_reference: url:http://www.ninds.nih.gov/disorders/barth/barth.htm
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract
annotated source: Barth syndrome
annotated property: definition

Liddle syndrome
type: Class
subclass of: DOID 447
id: DOID:0050477
has_exact_synonym: Liddle's syndrome
database_cross_reference: MSH:D056929
database_cross_reference: NCI:C84827
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:177200
has_exact_synonym: Pseudoaldosteronism
database_cross_reference: SNOMEDCT_US_2015_03_01:190901004
database_cross_reference: SNOMEDCT_US_2015_03_01:237493003
database_cross_reference: SNOMEDCT_US_2015_03_01:707749005
database_cross_reference: SNOMEDCT_US_2015_03_01:71275003
database_cross_reference: UMLS_CUI:C0221043
has_obo_namespace: disease_ontology

primary Escherichia coli infectious disease
type: Class
id: DOID:0050478
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

commensal Klebsiella infectious disease
type: Class
id: DOID:0050479
has_exact_synonym: Klebsiella infection
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: CSP2005:0368-2705
annotated target: Klebsiella infection
annotated source: commensal Klebsiella infectious disease
annotated property: has_exact_synonym

epidemic typhus
type: Class
subclass of: typhus
definition: A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
id: DOID:0050480
has_obo_namespace: disease_ontology
has_exact_synonym: sylvatic typhus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
database_cross_reference: url:http://en.wikipedia.org/wiki/Epidemic_typhus
annotated source: epidemic typhus
annotated property: definition

endemic typhus
type: Class
subclass of: typhus
definition: A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash.
has_alternative_id: DOID:0050028
has_alternative_id: DOID:0050029
has_alternative_id: DOID:0050030
has_alternative_id: DOID:0050057
has_alternative_id: DOID:0050058
id: DOID:0050481
has_exact_synonym: Rat-Flea Typhus
has_exact_synonym: Rickettsia felis spotted fever
has_related_synonym: Shop typhus
has_exact_synonym: Urban Typhus of Malaya
has_exact_synonym: cat flea rickettsiosis
has_obo_namespace: disease_ontology
has_exact_synonym: fleaborne typhus
has_exact_synonym: murine typhus
has_exact_synonym: toulon typhus
has_exact_synonym: urban typhus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash.
database_cross_reference: url:http://en.wikipedia.org/wiki/Murine_typhus
annotated source: endemic typhus
annotated property: definition

lymphangitis-associated rickettsiosis
type: Class
id: DOID:0050482
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Rickettsia aeschlimannii spotted fever
type: Class
id: DOID:0050483
has_obo_namespace: disease_ontology
deprecated: true

aneruptive fever
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
id: DOID:0050484
has_exact_synonym: Rickettsia helvetica spotted fever
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
database_cross_reference: url:http://jcm.asm.org/cgi/reprint/42/2/816
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: aneruptive fever
annotated property: definition

sennetsu fever
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
id: DOID:0050485
has_exact_synonym: Sennetsu ehrlichiosis
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
database_cross_reference: url:http://www.ebi.ac.uk/2can/genomes/bacteria/Neorickettsia_sennetsu.html
annotated source: sennetsu fever
annotated property: definition

exanthem
type: Class
subclass of: DOID 37
id: DOID:0050486
database_cross_reference: ICD10CM:R21
database_cross_reference: ICD9CM:782.1
database_cross_reference: MSH:D005076
database_cross_reference: NCI:C111884
database_cross_reference: NCI:C39594
has_exact_synonym: Rash
database_cross_reference: SNOMEDCT_US_2015_03_01:112625008
database_cross_reference: SNOMEDCT_US_2015_03_01:139684003
database_cross_reference: SNOMEDCT_US_2015_03_01:158230006
database_cross_reference: SNOMEDCT_US_2015_03_01:158231005
database_cross_reference: SNOMEDCT_US_2015_03_01:158234002
database_cross_reference: SNOMEDCT_US_2015_03_01:1806006
database_cross_reference: SNOMEDCT_US_2015_03_01:206860008
database_cross_reference: SNOMEDCT_US_2015_03_01:206861007
database_cross_reference: SNOMEDCT_US_2015_03_01:206864004
database_cross_reference: SNOMEDCT_US_2015_03_01:267183006
database_cross_reference: SNOMEDCT_US_2015_03_01:271807003
database_cross_reference: UMLS_CUI:C0015230
has_obo_namespace: disease_ontology
has_exact_synonym: exanthema

bacterial exanthem
type: Class
subclass of: exanthem
id: DOID:0050487
has_obo_namespace: disease_ontology

early congenital syphilis
type: Class
subclass of: DOID 9856
definition: A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
id: DOID:0050488
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
database_cross_reference: url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html
annotated source: early congenital syphilis
annotated property: definition

multinodular goiter
type: Class
subclass of: DOID_12176
definition: A goiter characterized by a multinodular enlargement of the thyroid gland.
id: DOID:0050489
database_cross_reference: OMIM:138800
database_cross_reference: OMIM:300273
database_cross_reference: OMIM:606082
database_cross_reference: ORDO:276399
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A goiter characterized by a multinodular enlargement of the thyroid gland.
database_cross_reference: url:http://en.wikipedia.org/wiki/Multinodular_goitre
annotated source: multinodular goiter
annotated property: definition

parenchymatous neurosyphilis
type: Class
subclass of: DOID 9988
definition: A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
id: DOID:0050490
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
annotated target: A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
annotated source: parenchymatous neurosyphilis
annotated property: definition

meningovascular neurosyphilis
type: Class
subclass of: DOID 9988
definition: A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
id: DOID:0050491
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
annotated target: A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
annotated source: meningovascular neurosyphilis
annotated property: definition

tertiary syphilitic encephalitis
type: Class
id: DOID:0050492
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

tertiary syphilitic meningitis
type: Class
id: DOID:0050493
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Papillomaviridae infectious disease
type: Class
definition: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.
id: DOID:0050494
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Papillomaviridae
annotated source: Papillomaviridae infectious disease
annotated property: definition

exanthema subitum
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
id: DOID:0050495
database_cross_reference: ICD10CM:B08.2
database_cross_reference: ICD10CM:B08.20
database_cross_reference: ICD9CM:058.1
database_cross_reference: ICD9CM:058.10
database_cross_reference: MSH:D005077
has_exact_synonym: Roseola Infantum
database_cross_reference: SNOMEDCT_US_2015_03_01:154343004
database_cross_reference: SNOMEDCT_US_2015_03_01:154344005
database_cross_reference: SNOMEDCT_US_2015_03_01:240559001
database_cross_reference: SNOMEDCT_US_2015_03_01:266192003
database_cross_reference: SNOMEDCT_US_2015_03_01:266193008
database_cross_reference: SNOMEDCT_US_2015_03_01:402902002
database_cross_reference: SNOMEDCT_US_2015_03_01:54385001
has_exact_synonym: Sixth Disease
database_cross_reference: UMLS_CUI:C0015231
has_obo_namespace: disease_ontology

Axiom
annotated target: A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
database_cross_reference: url:http://en.wikipedia.org/wiki/Exanthema_subitum
annotated source: exanthema subitum
annotated property: definition

Banna virus encephalitis
type: Class
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.
id: DOID:0050496
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.
database_cross_reference: url:http://vir.sgmjournals.org/cgi/reprint/86/4/1147
database_cross_reference: url:http://www.cdc.gov/EID/content/14/8/1276.htm
annotated source: Banna virus encephalitis
annotated property: definition

Anelloviridae infectious disease
type: Class
definition: A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
id: DOID:0050497
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Anelloviridae
annotated source: Anelloviridae infectious disease
annotated property: definition

dsDNA virus infectious disease
type: Class
definition: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
id: DOID:0050498
has_obo_namespace: disease_ontology
has_exact_synonym: double stranded DNA virus infectious disease
has_exact_synonym: dsDNA virus infection
deprecated: true

Axiom
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: dsDNA virus infectious disease
annotated property: definition

ssDNA virus infectious disease
type: Class
definition: A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
id: DOID:0050499
has_obo_namespace: disease_ontology
has_exact_synonym: single stranded DNA virus infectious disease
has_exact_synonym: ssDNA virus infection
deprecated: true

Axiom
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: ssDNA virus infectious disease
annotated property: definition

dsDNA-RT virus infectious disease
type: Class
definition: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase.
id: DOID:0050500
has_obo_namespace: disease_ontology
has_exact_synonym: double stranded DNA reverse transcribing virus infectious disease
has_exact_synonym: double stranded DNA-reverse transcribing virus infection
has_exact_synonym: dsDNA-RT virus infection
deprecated: true

Axiom
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: dsDNA-RT virus infectious disease
annotated property: definition

dsRNA virus infectious disease
type: Class
definition: A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
id: DOID:0050501
has_obo_namespace: disease_ontology
has_exact_synonym: double stranded RNA virus infectious disease
has_exact_synonym: dsRNA virus infection
deprecated: true

Axiom
annotated target: A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: dsRNA virus infectious disease
annotated property: definition

(+)ssRNA virus infectious disease
type: Class
has_exact_synonym: (+)ssRNA virus infection
definition: A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes.
id: DOID:0050502
has_exact_synonym: Positive Stranded ssRNA Virus infectious disease
has_obo_namespace: disease_ontology
has_exact_synonym: positive-sense single stranded RNA virus infectious disease
has_exact_synonym: positive-sense ssRNA virus infection
has_exact_synonym: positive-sense ssRNA virus infectious disease
deprecated: true

Axiom
annotated target: A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: (+)ssRNA virus infectious disease
annotated property: definition

(-)ssRNA virus infectious disease
type: Class
has_exact_synonym: (-)ssRNA virus infection
definition: A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes.
id: DOID:0050503
has_exact_synonym: Negative Stranded ssRNA Virus infectious disease
has_obo_namespace: disease_ontology
has_exact_synonym: negative-sense single stranded RNA virus infectious disease
has_exact_synonym: negative-sense ssRNA virus infection
has_exact_synonym: negative-sense ssRNA virus infectious disease
deprecated: true

Axiom
annotated target: A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: (-)ssRNA virus infectious disease
annotated property: definition

ssRNA-RT virus infectious disease
type: Class
definition: A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase.
id: DOID:0050504
has_obo_namespace: disease_ontology
has_exact_synonym: single stranded RNA reverse transcribing virus infectious disease
has_exact_synonym: ssRNA-RT virus infection
deprecated: true

Axiom
annotated target: A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase.
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated source: ssRNA-RT virus infectious disease
annotated property: definition

human papilloma virus related anal squamous cell carcinoma
type: Class
definition: A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus.
id: DOID:0050505
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus.
database_cross_reference: url:http://www.infectagentscancer.com/content/5/1/17
annotated source: human papilloma virus related anal squamous cell carcinoma
annotated property: definition

human papilloma virus related vaginal squamous cell carcinoma
type: Class
definition: A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina.
id: DOID:0050506
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina.
database_cross_reference: url:http://emedicine.medscape.com/article/219110-overview
database_cross_reference: url:http://emedicine.medscape.com/article/269188-overview
annotated source: human papilloma virus related vaginal squamous cell carcinoma
annotated property: definition

AIDS-related cryptosporidiosis
type: Class
id: DOID:0050507
has_obo_namespace: disease_ontology
deprecated: true

variola major
type: Class
subclass of: DOID 8736
definition: A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
id: DOID:0050508
database_cross_reference: ICD9CM:050.0
database_cross_reference: SNOMEDCT_US_2015_03_01:154344005
database_cross_reference: SNOMEDCT_US_2015_03_01:266193008
database_cross_reference: SNOMEDCT_US_2015_03_01:47452006
database_cross_reference: UMLS_CUI:C1812609
has_obo_namespace: disease_ontology

Axiom
annotated target: A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/smallpox/en/
annotated source: variola major
annotated property: definition

AIDS-related toxoplasmosis
type: Class
id: DOID:0050509
has_obo_namespace: disease_ontology
deprecated: true

AIDS-related cystoisosporiasis
type: Class
has_exact_synonym: AIDS-related isosporiasis
id: DOID:0050510
has_obo_namespace: disease_ontology
deprecated: true

Human torovirus gastroenteritis
type: Class
definition: A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea.
id: DOID:0050511
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea.
database_cross_reference: url:http://www.jstor.org/stable/30117350
annotated source: Human torovirus gastroenteritis
annotated property: definition

Saffold virus gastroenteritis
type: Class
definition: A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting.
id: DOID:0050512
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting.
database_cross_reference: url:http://jvi.asm.org/cgi/content/full/83/9/4631
database_cross_reference: url:http://www.cdc.gov/EID/content/15/9/1509.htm
annotated source: Saffold virus gastroenteritis
annotated property: definition

spinal polio
type: Class
subclass of: paralytic poliomyelitis
definition: A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs.
id: DOID:0050513
has_obo_namespace: disease_ontology

Axiom
annotated target: A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Poliomyelitis
annotated source: spinal polio
annotated property: definition

bulbospinal polio
type: Class
subclass of: paralytic poliomyelitis
definition: A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
id: DOID:0050514
has_obo_namespace: disease_ontology

Axiom
annotated target: A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
database_cross_reference: url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms
annotated source: bulbospinal polio
annotated property: definition

paralytic poliomyelitis
type: Class
subclass of: DOID 4953
definition: A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
id: DOID:0050515
has_obo_namespace: disease_ontology

Axiom
annotated target: A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
database_cross_reference: url:http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html
database_cross_reference: url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms
annotated source: paralytic poliomyelitis
annotated property: definition

O'nyong'nyong fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
id: DOID:0050516
has_obo_namespace: disease_ontology

Axiom
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
database_cross_reference: url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false
annotated source: O'nyong'nyong fever
annotated property: definition

Barmah Forest virus disease
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
id: DOID:0050517
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
database_cross_reference: url:http://health.vic.gov.au/ideas/bluebook/barmah_forest
annotated source: Barmah Forest virus disease
annotated property: definition

Ross River fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
id: DOID:0050518
has_exact_synonym: Ross River virus disease
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ross_River_fever
annotated source: Ross River fever
annotated property: definition

Lymphocytic choriomeningitis virus meningitis
type: Class
definition: A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck.
id: DOID:0050519
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm
annotated source: Lymphocytic choriomeningitis virus meningitis
annotated property: definition

Lymphocytic choriomeningitis virus meningoencephalitis
type: Class
definition: A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
id: DOID:0050520
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm
annotated source: Lymphocytic choriomeningitis virus meningoencephalitis
annotated property: definition

Oropouche fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting.
id: DOID:0050521
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting.
database_cross_reference: url:http://en.wikipedia.org/wiki/Oropouche_fever
database_cross_reference: url:http://www.cdc.gov/EID/content/13/6/912.htm
annotated source: Oropouche fever
annotated property: definition

Balkan hemorrhagic fever
type: Class
subclass of: hemorrhagic fever with renal syndrome
definition: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
id: DOID:0050522
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
database_cross_reference: url:http://emedicine.medscape.com/article/982142-overview
annotated source: Balkan hemorrhagic fever
annotated property: definition

adult T-cell leukemia
type: Class
subclass of: DOID 715
definition: A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
has_exact_synonym: Adult T-cell leukemia/lymphoma
id: DOID:0050523
database_cross_reference: ICD10CM:C91.5
database_cross_reference: ICD10CM:C91.50
database_cross_reference: MSH:D015459
database_cross_reference: NCI:C3184
database_cross_reference: SNOMEDCT_US_2015_03_01:110007008
database_cross_reference: SNOMEDCT_US_2015_03_01:188729005
database_cross_reference: SNOMEDCT_US_2015_03_01:77430005
database_cross_reference: UMLS_CUI:C0023493
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus

Axiom
annotated target: A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184
annotated source: adult T-cell leukemia
annotated property: definition

maturity-onset diabetes of the young
type: Class
subclass of: DOID 630
definition: A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
id: DOID:0050524
database_cross_reference: ICD10CM:E11.8
database_cross_reference: KEGG:04950
has_exact_synonym: MODY
has_exact_synonym: Mason-type diabetes
database_cross_reference: OMIM:125850
database_cross_reference: OMIM:125851
database_cross_reference: OMIM:137920
database_cross_reference: OMIM:600496
database_cross_reference: OMIM:606391
database_cross_reference: OMIM:606392
database_cross_reference: OMIM:606394
database_cross_reference: OMIM:609812
database_cross_reference: OMIM:610508
database_cross_reference: OMIM:612225
database_cross_reference: OMIM:613370
database_cross_reference: OMIM:613375
database_cross_reference: OMIM:616329
database_cross_reference: OMIM:616511
database_cross_reference: ORDO:552
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
database_cross_reference: url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young
annotated source: maturity-onset diabetes of the young
annotated property: definition

acroosteolysis
type: Class
has_related_synonym: Acroosteolysis syndrome
id: DOID:0050525
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: acro-osteolysis
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Acroosteolysis syndrome
database_cross_reference: SNOMEDCT_2005_07_31:27201004
annotated source: acroosteolysis
annotated property: has_related_synonym

Gamstorp-Wohlfart syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
id: DOID:0050526
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:137200
has_exact_synonym: autosomal recessive neuromyotonia and axonal neuropathy
has_obo_namespace: disease_ontology
has_exact_synonym: myokymia, myotonia and muscle wasting

Axiom
annotated target: A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia
annotated source: Gamstorp-Wohlfart syndrome
annotated property: definition

familial hypertriglyceridemia
type: Class
subclass of: DOID 3146
definition: A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency.
id: DOID:0050527
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:145750
has_exact_synonym: Pure hyperglyceridemia
has_obo_namespace: disease_ontology

Axiom
annotated target: A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency.
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_hypertriglyceridemia
annotated source: familial hypertriglyceridemia
annotated property: definition

nonphotosensitive trichothiodystrophy
type: Class
subclass of: autosomal recessive disease
has_exact_synonym: AMISH BRITTLE HAIR BRAIN SYNDROME
has_exact_synonym: BIDS SYNDROME
id: DOID:0050528
has_exact_synonym: HAIR-BRAIN SYNDROME
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:234050
has_obo_namespace: disease_ontology

adult spinal muscular atrophy
type: Class
subclass of: DOID_12377
id: DOID:0050529
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:271150
has_exact_synonym: SPINAL MUSCULAR ATROPHY, ADULT FORM
has_exact_synonym: SPINAL MUSCULAR ATROPHY, TYPE IV
has_obo_namespace: disease_ontology

intermediate spinal muscular atrophy
type: Class
subclass of: DOID_12377
id: DOID:0050530
has_exact_synonym: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
has_exact_synonym: MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:253550
has_obo_namespace: disease_ontology

lentiginosis profusa
type: Class
id: DOID:0050531
has_exact_synonym: LENTIGINOSIS, DIFFUSE
has_exact_synonym: LENTIGINOSIS, GENERALIZED
has_exact_synonym: LENTIGINOSIS, INHERITED PATTERNED
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
deprecated: true

epidermal nevus
type: Class
id: DOID:0050532
has_exact_synonym: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: PIGMENTED MOLES
has_obo_namespace: disease_ontology
deprecated: true

soldiers heart
type: Class
id: DOID:0050533
has_exact_synonym: IRRITABLE HEART
has_exact_synonym: MITRAL VALVE PROLAPSE SYNDROME
has_exact_synonym: NEUROCIRCULATORY ASTHENIA
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: ORTHOSTATIC INTOLERANCE
has_obo_namespace: disease_ontology
deprecated: true

congenital stationary night blindness
type: Class
subclass of: DOID 8499
definition: A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
id: DOID:0050534
database_cross_reference: ICD10CM:H53.63
database_cross_reference: ICD9CM:368.61
database_cross_reference: MSH:C537743
database_cross_reference: OMIM:163500
database_cross_reference: OMIM:257270
database_cross_reference: OMIM:300071
database_cross_reference: OMIM:310500
database_cross_reference: OMIM:610427
database_cross_reference: OMIM:610444
database_cross_reference: OMIM:610445
database_cross_reference: OMIM:613216
database_cross_reference: OMIM:613830
database_cross_reference: OMIM:614565
database_cross_reference: OMIM:615058
database_cross_reference: OMIM:616389
database_cross_reference: ORDO:215
database_cross_reference: SNOMEDCT_US_2015_03_01:193687000
database_cross_reference: SNOMEDCT_US_2015_03_01:193688005
database_cross_reference: SNOMEDCT_US_2015_03_01:193689002
database_cross_reference: SNOMEDCT_US_2015_03_01:89208008
database_cross_reference: UMLS_CUI:C1306122
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: congenital essential nyctalopia
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
database_cross_reference: url:http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1245/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/
database_cross_reference: url:http://www.omim.org/entry/610444
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215
annotated source: congenital stationary night blindness
annotated property: definition

exudative vitreoretinopathy
type: Class
subclass of: DOID 2462
definition: A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
id: DOID:0050535
has_exact_synonym: FEVR
database_cross_reference: ICD10CM:H35.00
database_cross_reference: ICD9CM:362.10
database_cross_reference: OMIM:133780
database_cross_reference: OMIM:305390
database_cross_reference: OMIM:601813
database_cross_reference: OMIM:605750
database_cross_reference: OMIM:613310
database_cross_reference: ORDO:891
database_cross_reference: SNOMEDCT_US_2015_03_01:193355009
database_cross_reference: SNOMEDCT_US_2015_03_01:31411005
database_cross_reference: SNOMEDCT_US_2015_03_01:42873008
database_cross_reference: UMLS_CUI:C0004608
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: familial exudative vitreoretinopathy
in_subset: DO MGI slim

Axiom
annotated target: A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy
annotated source: exudative vitreoretinopathy
annotated property: definition

SC phocomelia syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050536
has_exact_synonym: Hypomelia Hypotrichosis Facial hemangioma syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:269000
has_exact_synonym: SC PSEUDOTHALIDOMIDE SYNDROME
has_obo_namespace: disease_ontology

posterior polar cataract
type: Class
subclass of: DOID 83
has_exact_synonym: CATARACT, POSTERIOR POLAR
id: DOID:0050537
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:116600
database_cross_reference: OMIM:605387
database_cross_reference: OMIM:610623
database_cross_reference: OMIM:613763
has_obo_namespace: disease_ontology

Charcot-Marie-Tooth disease type 1
type: Class
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
id: DOID:0050538
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:118200
database_cross_reference: OMIM:118220
database_cross_reference: OMIM:118300
database_cross_reference: OMIM:601098
database_cross_reference: OMIM:607678
database_cross_reference: OMIM:607734
has_obo_namespace: disease_ontology
has_exact_synonym: hereditary motor and sensory neuropathy type 1

Axiom
annotated target: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated source: Charcot-Marie-Tooth disease type 1
annotated property: definition

Charcot-Marie-Tooth disease type 2
type: Class
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
id: DOID:0050539
database_cross_reference: ICD9CM:356.0
database_cross_reference: OMIM:118210
database_cross_reference: OMIM:118230
database_cross_reference: OMIM:600882
database_cross_reference: OMIM:601472
database_cross_reference: OMIM:604484
database_cross_reference: OMIM:605588
database_cross_reference: OMIM:605589
database_cross_reference: OMIM:606071
database_cross_reference: OMIM:606595
database_cross_reference: OMIM:607677
database_cross_reference: OMIM:607684
database_cross_reference: OMIM:607731
database_cross_reference: OMIM:607736
database_cross_reference: OMIM:607831
database_cross_reference: OMIM:608591
database_cross_reference: OMIM:608673
database_cross_reference: OMIM:609260
database_cross_reference: OMIM:613287
database_cross_reference: OMIM:614228
database_cross_reference: OMIM:614436
database_cross_reference: OMIM:615025
database_cross_reference: OMIM:615490
database_cross_reference: OMIM:616155
database_cross_reference: OMIM:616233
database_cross_reference: OMIM:616280
database_cross_reference: OMIM:616491
database_cross_reference: ORDO:64746
database_cross_reference: SNOMEDCT_US_2015_03_01:128202008
database_cross_reference: SNOMEDCT_US_2015_03_01:193158000
database_cross_reference: SNOMEDCT_US_2015_03_01:193159008
database_cross_reference: SNOMEDCT_US_2015_03_01:65017003
database_cross_reference: UMLS_CUI:C0392553
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: hereditary motor and sensory neuropathy Guadalajara neuronal type
has_exact_synonym: hereditary motor and sensory neuropathy Okinawa type
has_exact_synonym: hereditary motor and sensory neuropathy type 2
in_subset: DO MGI slim

Axiom
annotated target: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/25098539
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated source: Charcot-Marie-Tooth disease type 2
annotated property: definition

Charcot-Marie-Tooth disease type 3
type: Class
subclass of: Charcot-Marie-Tooth disease
has_exact_synonym: DEJERINE-SOTTAS NEUROPATHY
has_exact_synonym: DEJERINE-SOTTAS SYNDROME
id: DOID:0050540
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:145900
has_obo_namespace: disease_ontology

Charcot-Marie-Tooth disease type 4
type: Class
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
id: DOID:0050541
has_alternative_id: DOID:0050582
database_cross_reference: OMIM:145900
database_cross_reference: OMIM:158580
database_cross_reference: OMIM:158590
database_cross_reference: OMIM:182960
database_cross_reference: OMIM:214400
database_cross_reference: OMIM:600794
database_cross_reference: OMIM:601382
database_cross_reference: OMIM:601455
database_cross_reference: OMIM:601596
database_cross_reference: OMIM:604563
database_cross_reference: OMIM:605253
database_cross_reference: OMIM:605285
database_cross_reference: OMIM:607641
database_cross_reference: OMIM:607706
database_cross_reference: OMIM:608634
database_cross_reference: OMIM:609311
database_cross_reference: OMIM:611228
database_cross_reference: OMIM:613376
database_cross_reference: OMIM:614751
database_cross_reference: OMIM:614895
database_cross_reference: OMIM:615284
database_cross_reference: OMIM:615575
database_cross_reference: ORDO:64749
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: distal hereditary motor neuropathy
has_exact_synonym: hereditary motor and sensory neuropathy Russe type
has_exact_synonym: spinal CMT
in_subset: DO MGI slim

Axiom
annotated target: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated source: Charcot-Marie-Tooth disease type 4
annotated property: definition

Charcot-Marie-Tooth disease type X
type: Class
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
has_exact_synonym: COWCK
has_exact_synonym: Cowchock syndrome
id: DOID:0050542
database_cross_reference: OMIM:300905
database_cross_reference: OMIM:302800
database_cross_reference: OMIM:302801
database_cross_reference: OMIM:302802
database_cross_reference: OMIM:310490
database_cross_reference: OMIM:311070
database_cross_reference: ORDO:64747
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated source: Charcot-Marie-Tooth disease type X
annotated property: definition

Charcot-Marie-Tooth disease intermediate type
type: Class
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
has_exact_synonym: Charcot-Marie-Tooth disease dominant intermediate
has_exact_synonym: Charcot-Marie-Tooth disease recessive intermediate
id: DOID:0050543
database_cross_reference: OMIM:606482
database_cross_reference: OMIM:606483
database_cross_reference: OMIM:607791
database_cross_reference: OMIM:608323
database_cross_reference: OMIM:608340
database_cross_reference: OMIM:613641
database_cross_reference: OMIM:614455
database_cross_reference: OMIM:615185
database_cross_reference: OMIM:615376
database_cross_reference: OMIM:616039
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16775371
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114
annotated source: Charcot-Marie-Tooth disease intermediate type
annotated property: definition

hypermethioninemia
type: Class
subclass of: DOID 9252
definition: An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
id: DOID:0050544
database_cross_reference: OMIM:613752
database_cross_reference: OMIM:614300
database_cross_reference: ORDO:289290
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
in_subset: DO MGI slim

Axiom
annotated target: An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypermethioninemia
annotated source: hypermethioninemia
annotated property: definition

visceral heterotaxy
type: Class
subclass of: physical disorder
definition: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
id: DOID:0050545
database_cross_reference: OMIM:306955
database_cross_reference: OMIM:605376
database_cross_reference: OMIM:606325
database_cross_reference: OMIM:613751
database_cross_reference: OMIM:614779
database_cross_reference: ORDO:450
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: heterotaxia
has_exact_synonym: situs ambiguus
in_subset: DO MGI slim

Axiom
annotated target: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
database_cross_reference: url:http://en.wikipedia.org/wiki/Situs_ambiguus
annotated source: visceral heterotaxy
annotated property: definition

congenital adrenal insufficiency
type: Class
subclass of: DOID 9553
has_exact_synonym: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
id: DOID:0050546
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613743
has_exact_synonym: P450scc DEFICIENCY
has_obo_namespace: disease_ontology

familial medullary thyroid carcinoma
type: Class
subclass of: DOID 3973
definition: A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
id: DOID:0050547
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:155240
has_exact_synonym: THYROID CARCINOMA, FAMILIAL MEDULLARY
has_obo_namespace: disease_ontology

hereditary sensory neuropathy
type: Class
subclass of: peripheral neuropathy
definition: A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
id: DOID:0050548
database_cross_reference: OMIM:162400
database_cross_reference: OMIM:201300
database_cross_reference: OMIM:256800
database_cross_reference: OMIM:256860
database_cross_reference: OMIM:310470
database_cross_reference: OMIM:608088
database_cross_reference: OMIM:608654
database_cross_reference: OMIM:613115
database_cross_reference: OMIM:613640
database_cross_reference: OMIM:613708
database_cross_reference: OMIM:614116
database_cross_reference: OMIM:614213
database_cross_reference: OMIM:614653
database_cross_reference: OMIM:615548
database_cross_reference: OMIM:615632
database_cross_reference: OMIM:616488
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: congenital insensitivity to pain
has_obo_namespace: disease_ontology
has_exact_synonym: familial dysautonomia, type II
has_exact_synonym: hereditary sensory and autonomic neuropathy
in_subset: DO MGI slim

Axiom
annotated target: A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
database_cross_reference: url:http://omim.org/entry/616488?search=616488&highlight=616488
annotated source: hereditary sensory neuropathy
annotated property: definition

Saldino-Noonan syndrome
type: Class
subclass of: DOID 225
id: DOID:0050549
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:263530
has_obo_namespace: disease_ontology
has_exact_synonym: type I short rib polydactyly syndrome

Majewski syndrome
type: Class
id: DOID:0050550
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: type II short rib-polydactyly syndrome

Verma-Naumoff syndrome
type: Class
id: DOID:0050551
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: type III short rib-polydactyly syndrome

JMP syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
id: DOID:0050553
has_exact_synonym: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613732
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
database_cross_reference: url:http://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf
database_cross_reference: url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php
annotated source: JMP syndrome
annotated property: definition

X-linked sideroblastic anemia with ataxia
type: Class
subclass of: DOID 8955
has_exact_synonym: Anemia sideroblastic and spinocerebellar ataxia
id: DOID:0050554
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:301310
has_exact_synonym: X-linked sideroblastic anemia and ataxia
has_obo_namespace: disease_ontology

infantile onset spinocerebellar ataxia
type: Class
subclass of: autosomal recessive cerebellar ataxia
id: DOID:0050556
has_exact_synonym: OHAHA SYNDROME
database_cross_reference: OMIM:271245
has_obo_namespace: disease_ontology

congenital muscular dystrophy
type: Class
subclass of: DOID 9884
definition: A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
id: DOID:0050557
database_cross_reference: ICD9CM:359.0
database_cross_reference: OMIM:253900
database_cross_reference: OMIM:254100
database_cross_reference: OMIM:602541
database_cross_reference: OMIM:602771
database_cross_reference: OMIM:604801
database_cross_reference: OMIM:606612
database_cross_reference: OMIM:607855
database_cross_reference: OMIM:608840
database_cross_reference: OMIM:609456
database_cross_reference: OMIM:613204
database_cross_reference: OMIM:613205
database_cross_reference: ORDO:97242
database_cross_reference: SNOMEDCT_US_2015_03_01:111501005
database_cross_reference: SNOMEDCT_US_2015_03_01:193221009
database_cross_reference: SNOMEDCT_US_2015_03_01:193224001
database_cross_reference: UMLS_CUI:C2937300
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/md/detail_md.htm
annotated source: congenital muscular dystrophy
annotated property: definition

Ullrich congenital muscular dystrophy
type: Class
subclass of: congenital muscular dystrophy
id: DOID:0050558
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:254090
has_exact_synonym: ULLRICH DISEASE
has_exact_synonym: Ullrich scleroatonic muscular dystrophy
has_obo_namespace: disease_ontology

Fukuyama congenital muscular dystrophy
type: Class
subclass of: congenital muscular dystrophy
id: DOID:0050559
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:253800
has_obo_namespace: disease_ontology

Walker-Warburg syndrome
type: Class
subclass of: congenital muscular dystrophy
id: DOID:0050560
has_exact_synonym: HARD syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:236670
database_cross_reference: OMIM:253280
has_exact_synonym: cerebroocular dysplasia-muscular dystrophy syndrome
has_obo_namespace: disease_ontology

Lennox-Gastaut syndrome
type: Class
subclass of: childhood electroclinical syndrome
id: DOID:0050561
has_exact_synonym: Lennox syndrome
database_cross_reference: OMIM:606369
has_obo_namespace: disease_ontology

West syndrome
type: Class
subclass of: infancy electroclinical syndrome
id: DOID:0050562
has_obo_namespace: disease_ontology

nonsyndromic deafness
type: Class
subclass of: DOID 2742
definition: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
id: DOID:0050563
has_obo_namespace: disease_ontology
has_exact_synonym: nonsyndromic hearing loss
has_exact_synonym: nonsyndromic hereditary hearing loss

Axiom
annotated target: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
database_cross_reference: url:http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
database_cross_reference: url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742
annotated source: nonsyndromic deafness
annotated property: definition

autosomal dominant nonsyndromic deafness
type: Class
subclass of: nonsyndromic deafness
definition: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
id: DOID:0050564
database_cross_reference: ICD10CM:H90.3
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:124900
database_cross_reference: OMIM:600101
database_cross_reference: OMIM:600652
database_cross_reference: OMIM:600965
database_cross_reference: OMIM:600994
database_cross_reference: OMIM:601316
database_cross_reference: OMIM:601317
database_cross_reference: OMIM:601369
database_cross_reference: OMIM:601412
database_cross_reference: OMIM:601543
database_cross_reference: OMIM:601544
database_cross_reference: OMIM:601868
database_cross_reference: OMIM:602459
database_cross_reference: OMIM:603622
database_cross_reference: OMIM:603964
database_cross_reference: OMIM:604717
database_cross_reference: OMIM:605192
database_cross_reference: OMIM:605583
database_cross_reference: OMIM:605594
database_cross_reference: OMIM:606012
database_cross_reference: OMIM:606282
database_cross_reference: OMIM:606346
database_cross_reference: OMIM:606451
database_cross_reference: OMIM:606705
database_cross_reference: OMIM:607017
database_cross_reference: OMIM:607197
database_cross_reference: OMIM:607453
database_cross_reference: OMIM:607683
database_cross_reference: OMIM:607841
database_cross_reference: OMIM:608224
database_cross_reference: OMIM:608372
database_cross_reference: OMIM:608394
database_cross_reference: OMIM:608641
database_cross_reference: OMIM:608645
database_cross_reference: OMIM:608652
database_cross_reference: OMIM:609965
database_cross_reference: OMIM:612431
database_cross_reference: OMIM:612642
database_cross_reference: OMIM:612643
database_cross_reference: OMIM:612644
database_cross_reference: OMIM:613074
database_cross_reference: OMIM:613558
database_cross_reference: OMIM:614152
database_cross_reference: OMIM:614211
database_cross_reference: OMIM:614314
database_cross_reference: OMIM:614614
database_cross_reference: OMIM:615629
database_cross_reference: OMIM:615649
database_cross_reference: OMIM:615654
database_cross_reference: OMIM:616044
database_cross_reference: OMIM:616340
database_cross_reference: OMIM:616357
database_cross_reference: ORDO:90635
has_exact_synonym: autosomal dominant deafness
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
annotated source: autosomal dominant nonsyndromic deafness
annotated property: definition

autosomal recessive nonsyndromic deafness
type: Class
subclass of: nonsyndromic deafness
definition: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
id: DOID:0050565
database_cross_reference: ICD10CM:H90.3
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:220290
database_cross_reference: OMIM:600060
database_cross_reference: OMIM:600316
database_cross_reference: OMIM:600792
database_cross_reference: OMIM:600971
database_cross_reference: OMIM:600974
database_cross_reference: OMIM:601071
database_cross_reference: OMIM:601072
database_cross_reference: OMIM:601386
database_cross_reference: OMIM:601869
database_cross_reference: OMIM:602092
database_cross_reference: OMIM:603010
database_cross_reference: OMIM:603098
database_cross_reference: OMIM:603629
database_cross_reference: OMIM:603678
database_cross_reference: OMIM:603720
database_cross_reference: OMIM:604060
database_cross_reference: OMIM:605316
database_cross_reference: OMIM:605428
database_cross_reference: OMIM:605818
database_cross_reference: OMIM:607039
database_cross_reference: OMIM:607084
database_cross_reference: OMIM:607101
database_cross_reference: OMIM:607197
database_cross_reference: OMIM:607239
database_cross_reference: OMIM:607821
database_cross_reference: OMIM:608219
database_cross_reference: OMIM:608264
database_cross_reference: OMIM:608265
database_cross_reference: OMIM:608565
database_cross_reference: OMIM:608653
database_cross_reference: OMIM:609006
database_cross_reference: OMIM:609439
database_cross_reference: OMIM:609533
database_cross_reference: OMIM:609646
database_cross_reference: OMIM:609647
database_cross_reference: OMIM:609706
database_cross_reference: OMIM:609823
database_cross_reference: OMIM:609941
database_cross_reference: OMIM:609946
database_cross_reference: OMIM:609952
database_cross_reference: OMIM:610143
database_cross_reference: OMIM:610153
database_cross_reference: OMIM:610154
database_cross_reference: OMIM:610212
database_cross_reference: OMIM:610220
database_cross_reference: OMIM:610248
database_cross_reference: OMIM:610265
database_cross_reference: OMIM:610419
database_cross_reference: OMIM:611022
database_cross_reference: OMIM:611451
database_cross_reference: OMIM:612433
database_cross_reference: OMIM:612645
database_cross_reference: OMIM:612789
database_cross_reference: OMIM:613079
database_cross_reference: OMIM:613285
database_cross_reference: OMIM:613307
database_cross_reference: OMIM:613391
database_cross_reference: OMIM:613392
database_cross_reference: OMIM:613453
database_cross_reference: OMIM:613557
database_cross_reference: OMIM:613685
database_cross_reference: OMIM:613718
database_cross_reference: OMIM:613865
database_cross_reference: OMIM:613916
database_cross_reference: OMIM:614035
database_cross_reference: OMIM:614414
database_cross_reference: OMIM:614617
database_cross_reference: OMIM:614861
database_cross_reference: OMIM:614899
database_cross_reference: OMIM:614934
database_cross_reference: OMIM:614944
database_cross_reference: OMIM:614945

Axiom
annotated target: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
annotated source: autosomal recessive nonsyndromic deafness
annotated property: definition

X-linked nonsyndromic deafness
type: Class
subclass of: nonsyndromic deafness
definition: A nonsyndromic deafness characterized by an X-linked inheritance mode.
id: DOID:0050566
database_cross_reference: ICD10CM:H90.3
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:300030
database_cross_reference: OMIM:300066
database_cross_reference: OMIM:300614
database_cross_reference: OMIM:300914
database_cross_reference: OMIM:304400
database_cross_reference: OMIM:304500
database_cross_reference: ORDO:90625
has_exact_synonym: X-linked deafness
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A nonsyndromic deafness characterized by an X-linked inheritance mode.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
annotated source: X-linked nonsyndromic deafness
annotated property: definition

orofacial cleft
type: Class
subclass of: physical disorder
id: DOID:0050567
database_cross_reference: OMIM:119530
database_cross_reference: OMIM:600625
database_cross_reference: OMIM:600757
database_cross_reference: OMIM:602966
database_cross_reference: OMIM:608371
database_cross_reference: OMIM:608864
database_cross_reference: OMIM:608874
database_cross_reference: OMIM:610361
database_cross_reference: OMIM:612858
database_cross_reference: OMIM:613705
database_cross_reference: OMIM:613857
database_cross_reference: OMIM:615892
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

spondylocostal dysostosis
type: Class
subclass of: DOID 1934
definition: A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
id: DOID:0050568
has_exact_synonym: Jarcho-Levin syndrome
database_cross_reference: OMIM:122600
database_cross_reference: OMIM:277300
database_cross_reference: OMIM:608681
database_cross_reference: OMIM:609813
database_cross_reference: OMIM:613686
database_cross_reference: ORDO:1797
database_cross_reference: ORDO:2311
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: spondylocostal dysostosis, autosomal recessive 3
has_exact_synonym: spondylothoracic dysostosis
has_exact_synonym: spondylothoracic dysplasia
in_subset: DO MGI slim

Axiom
annotated target: A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
database_cross_reference: url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis
annotated source: spondylocostal dysostosis
annotated property: definition

Seckel syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
id: DOID:0050569
has_exact_synonym: Harper's syndrome
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: OMIM:210600
database_cross_reference: OMIM:606744
database_cross_reference: OMIM:608664
database_cross_reference: OMIM:613676
database_cross_reference: OMIM:613823
database_cross_reference: OMIM:614728
database_cross_reference: OMIM:614851
database_cross_reference: OMIM:615807
database_cross_reference: ORDO:808
has_exact_synonym: Virchow-Seckel dwarfism
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: bird-headed dwarfism
has_obo_namespace: disease_ontology
has_exact_synonym: microcephalic primordial dwarfism
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
database_cross_reference: url:http://en.wikipedia.org/wiki/Seckel_syndrome
annotated source: Seckel syndrome
annotated property: definition

congenital disorder of glycosylation type I
type: Class
subclass of: DOID 5212
definition: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
has_exact_synonym: ALG1-CDG (CDG-1k)
has_exact_synonym: ALG11-CDG (CDG-1p)
has_exact_synonym: ALG12-CDG (CDG-1g)
has_exact_synonym: ALG2-CDG (CDG-1i)
has_exact_synonym: ALG3-CDG (CDG-1d)
has_exact_synonym: ALG6-CDG (CDG-1c)
has_exact_synonym: ALG8-CDG (CDG-1h)
has_exact_synonym: ALG9-CDG (CDG-1l)
id: DOID:0050570
has_exact_synonym: DOLK-CDG (CDG-1m)
has_exact_synonym: DPAGT1-CDG (CDG-1j)
has_exact_synonym: DPM1-CDG (CDG-1e)
has_exact_synonym: DPM2-CDG (CDG-1u)
has_exact_synonym: DPM3-CDG (CDG-1o)
has_exact_synonym: MPDU1-CDG (CDG-1f)
has_exact_synonym: MPI-CDG (CDG-1b)
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:212065
database_cross_reference: OMIM:601110
database_cross_reference: OMIM:602579
database_cross_reference: OMIM:603147
database_cross_reference: OMIM:607143
database_cross_reference: OMIM:607906
database_cross_reference: OMIM:608093
database_cross_reference: OMIM:608104
database_cross_reference: OMIM:608540
database_cross_reference: OMIM:608776
database_cross_reference: OMIM:608799
database_cross_reference: OMIM:609180
database_cross_reference: OMIM:610768
database_cross_reference: OMIM:612015
database_cross_reference: OMIM:612379
database_cross_reference: OMIM:612937
database_cross_reference: OMIM:613661
has_exact_synonym: PMM2-CDG (CDG-1a)
has_exact_synonym: RFT1-CDG (CDG-1n)
has_exact_synonym: SRD5A3-CDG (CDG-1q)
has_obo_namespace: disease_ontology

Axiom
annotated target: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification
annotated source: congenital disorder of glycosylation type I
annotated property: definition

congenital disorder of glycosylation type II
type: Class
subclass of: DOID 5212
definition: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
has_exact_synonym: B4GALT1-CDG (CDG-2d)
id: DOID:0050571
has_exact_synonym: MGAT2-CDG (CDG-2a)
has_exact_synonym: MOGS-CDG (CDG-2b)
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:212066
database_cross_reference: OMIM:266265
database_cross_reference: OMIM:603585
database_cross_reference: OMIM:606056
database_cross_reference: OMIM:607091
database_cross_reference: OMIM:608779
database_cross_reference: OMIM:611182
database_cross_reference: OMIM:611209
database_cross_reference: OMIM:613489
database_cross_reference: OMIM:613612
has_obo_namespace: disease_ontology

Axiom
annotated target: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification
annotated source: congenital disorder of glycosylation type II
annotated property: definition

cone-rod dystrophy
type: Class
subclass of: DOID 8466
definition: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
id: DOID:0050572
database_cross_reference: ICD10CM:H35.5
database_cross_reference: OMIM:120970
database_cross_reference: OMIM:300085
database_cross_reference: OMIM:300476
database_cross_reference: OMIM:304020
database_cross_reference: OMIM:600624
database_cross_reference: OMIM:600977
database_cross_reference: OMIM:601777
database_cross_reference: OMIM:602093
database_cross_reference: OMIM:603649
database_cross_reference: OMIM:604116
database_cross_reference: OMIM:605549
database_cross_reference: OMIM:607476
database_cross_reference: OMIM:608194
database_cross_reference: OMIM:610283
database_cross_reference: OMIM:610381
database_cross_reference: OMIM:612657
database_cross_reference: OMIM:612775
database_cross_reference: OMIM:613660
database_cross_reference: OMIM:614500
database_cross_reference: OMIM:615163
database_cross_reference: OMIM:615374
database_cross_reference: OMIM:615860
database_cross_reference: OMIM:615973
database_cross_reference: ORDO:1872
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: cone-rod dystrophy 5
has_exact_synonym: cone-rod retinal dystrophy
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
database_cross_reference: url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy
annotated source: cone-rod dystrophy
annotated property: definition

2-hydroxyglutaric aciduria
type: Class
subclass of: DOID 9252
definition: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
id: DOID:0050573
has_obo_namespace: disease_ontology

Axiom
annotated target: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
database_cross_reference: url:http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
annotated source: 2-hydroxyglutaric aciduria
annotated property: definition

L-2-hydroxyglutaric aciduria
type: Class
subclass of: 2-hydroxyglutaric aciduria
definition: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
id: DOID:0050574
has_exact_synonym: L-2-HYDROXYGLUTARIC ACIDEMIA
database_cross_reference: OMIM:236792
has_obo_namespace: disease_ontology

Axiom
annotated target: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
annotated source: L-2-hydroxyglutaric aciduria
annotated property: definition

D-2-hydroxyglutaric aciduria
type: Class
subclass of: 2-hydroxyglutaric aciduria
definition: An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
id: DOID:0050575
database_cross_reference: OMIM:600721
database_cross_reference: OMIM:613657
has_obo_namespace: disease_ontology

Axiom
annotated target: An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
annotated source: D-2-hydroxyglutaric aciduria
annotated property: definition

Senior-Loken syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
id: DOID:0050576
database_cross_reference: ICD10CM:Q61.5
has_exact_synonym: Loken Senior syndrome
database_cross_reference: OMIM:266900
database_cross_reference: OMIM:606995
database_cross_reference: OMIM:606996
database_cross_reference: OMIM:609254
database_cross_reference: OMIM:610189
database_cross_reference: OMIM:613615
database_cross_reference: ORDO:3156
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: renal-retinal syndrome
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
database_cross_reference: url:http://www.cigna.com/healthinfo/nord958.html
annotated source: Senior-Loken syndrome
annotated property: definition

Sensenbrenner syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050577
has_exact_synonym: Levin syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:218330
database_cross_reference: OMIM:613610
has_exact_synonym: cranioectodermal dysplasia
has_obo_namespace: disease_ontology

occult macular dystrophy
type: Class
subclass of: DOID 4448
definition: A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
id: DOID:0050578
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613587
has_obo_namespace: disease_ontology

Axiom
annotated target: A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
database_cross_reference: url:www.iovs.org/content/41/2/513.full.pdf
annotated source: occult macular dystrophy
annotated property: definition

glycogen storage disease XV
type: Class
subclass of: DOID 2747
id: DOID:0050579
database_cross_reference: OMIM:613507
has_obo_namespace: disease_ontology
has_exact_synonym: glycogen storage disease type XV

hereditary lymphedema
type: Class
subclass of: DOID 4977
definition: A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
id: DOID:0050580
database_cross_reference: ICD9CM:757.0
has_exact_synonym: Milroy's disease
has_exact_synonym: Nonne-Milroy lymphedema
database_cross_reference: OMIM:153100
database_cross_reference: OMIM:153200
database_cross_reference: OMIM:247440
database_cross_reference: OMIM:611944
database_cross_reference: OMIM:613480
database_cross_reference: OMIM:615907
database_cross_reference: ORDO:79452
database_cross_reference: SNOMEDCT_US_2015_03_01:205542007
database_cross_reference: SNOMEDCT_US_2015_03_01:205543002
database_cross_reference: SNOMEDCT_US_2015_03_01:205546005
database_cross_reference: SNOMEDCT_US_2015_03_01:75127007
database_cross_reference: UMLS_CUI:C1313885
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Milroy%27s_disease
annotated source: hereditary lymphedema
annotated property: definition

brachydactyly
type: Class
subclass of: DOID 1934
definition: A bone development disease characterized by short fingers and toes.
id: DOID:0050581
database_cross_reference: OMIM:112440
database_cross_reference: OMIM:112450
database_cross_reference: OMIM:112500
database_cross_reference: OMIM:112600
database_cross_reference: OMIM:112700
database_cross_reference: OMIM:112800
database_cross_reference: OMIM:112910
database_cross_reference: OMIM:113000
database_cross_reference: OMIM:113100
database_cross_reference: OMIM:113200
database_cross_reference: OMIM:113300
database_cross_reference: OMIM:301940
database_cross_reference: OMIM:607004
database_cross_reference: OMIM:611377
database_cross_reference: OMIM:613382
database_cross_reference: OMIM:615072
database_cross_reference: ORDO:294937
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A bone development disease characterized by short fingers and toes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Brachydactyly
annotated source: brachydactyly
annotated property: definition

Chlamydophila pneumoniae infectious disease
type: Class
id: DOID:0050583
has_obo_namespace: disease_ontology
deprecated: true

gummatous syphilis
type: Class
subclass of: DOID 8200
definition: A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
id: DOID:0050584
has_obo_namespace: disease_ontology

Axiom
annotated target: A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
database_cross_reference: url:http://emedicine.medscape.com/article/229461-overview#a0104
annotated source: gummatous syphilis
annotated property: definition

congenital generalized lipodystrophy
type: Class
subclass of: DOID 811
has_exact_synonym: Beradinelli-Seip syndrome
id: DOID:0050585
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:269700
database_cross_reference: OMIM:608594
database_cross_reference: OMIM:612526
database_cross_reference: OMIM:613327
has_obo_namespace: disease_ontology

trichotillomania
type: Class
subclass of: impulse control disorder
definition: An impulse control disorder that involves the uncontrollable plucking of ones hair.
id: DOID:0050587
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613229
has_obo_namespace: disease_ontology

Axiom
annotated target: An impulse control disorder that involves the uncontrollable plucking of ones hair.
database_cross_reference: url:http://www.forensicpsychiatry.ca/impulse/trich.htm
annotated source: trichotillomania
annotated property: definition

muscular dystrophy-dystroglycanopathy
type: Class
subclass of: congenital muscular dystrophy
has_exact_synonym: CMD due to dystroglycanopathy
id: DOID:0050588
database_cross_reference: ICD10CM:G71.2
database_cross_reference: OMIM:613150
database_cross_reference: OMIM:613151
database_cross_reference: OMIM:613152
database_cross_reference: OMIM:613153
database_cross_reference: OMIM:613154
database_cross_reference: OMIM:613155
database_cross_reference: OMIM:613156
database_cross_reference: OMIM:613818
database_cross_reference: OMIM:614643
database_cross_reference: OMIM:614830
database_cross_reference: OMIM:615041
database_cross_reference: OMIM:615181
database_cross_reference: OMIM:615249
database_cross_reference: OMIM:615287
database_cross_reference: OMIM:615350
database_cross_reference: OMIM:615351
database_cross_reference: OMIM:616052
database_cross_reference: OMIM:616094
database_cross_reference: ORDO:370953
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: CMD due to dystroglycanopathy
database_cross_reference: ORDO:370953
annotated source: muscular dystrophy-dystroglycanopathy
annotated property: has_exact_synonym

inflammatory bowel disease
type: Class
subclass of: DOID 5295
definition: An intestinal disease characterized by inflammation located_in all parts of digestive tract.
id: DOID:0050589
database_cross_reference: EFO:0003767
database_cross_reference: KEGG:05321
database_cross_reference: MSH:D015212
database_cross_reference: NCI:C3138
database_cross_reference: OMIM:266600
database_cross_reference: OMIM:601458
database_cross_reference: OMIM:604519
database_cross_reference: OMIM:605225
database_cross_reference: OMIM:606348
database_cross_reference: OMIM:606668
database_cross_reference: OMIM:606674
database_cross_reference: OMIM:606675
database_cross_reference: OMIM:608448
database_cross_reference: OMIM:611081
database_cross_reference: OMIM:612241
database_cross_reference: OMIM:612244
database_cross_reference: OMIM:612245
database_cross_reference: OMIM:612255
database_cross_reference: OMIM:612259
database_cross_reference: OMIM:612261
database_cross_reference: OMIM:612262
database_cross_reference: OMIM:612278
database_cross_reference: OMIM:612288
database_cross_reference: OMIM:612354
database_cross_reference: OMIM:612380
database_cross_reference: OMIM:612381
database_cross_reference: OMIM:612566
database_cross_reference: OMIM:612567
database_cross_reference: OMIM:612639
database_cross_reference: OMIM:612796
database_cross_reference: OMIM:613148
database_cross_reference: SNOMEDCT_US_2015_03_01:155759008
database_cross_reference: SNOMEDCT_US_2015_03_01:196974002
database_cross_reference: SNOMEDCT_US_2015_03_01:24526004
database_cross_reference: SNOMEDCT_US_2015_03_01:266516008
database_cross_reference: UMLS_CUI:C0021390
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An intestinal disease characterized by inflammation located_in all parts of digestive tract.
database_cross_reference: url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908
annotated source: inflammatory bowel disease
annotated property: definition

severe congenital neutropenia
type: Class
subclass of: DOID 1227
definition: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
id: DOID:0050590
database_cross_reference: ICD10CM:D70
database_cross_reference: OMIM:202700
database_cross_reference: OMIM:300299
database_cross_reference: OMIM:610738
database_cross_reference: OMIM:612541
database_cross_reference: OMIM:613107
database_cross_reference: OMIM:615285
database_cross_reference: OMIM:616022
database_cross_reference: ORDO:486
database_cross_reference: ORDO:86788
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17133096
annotated source: severe congenital neutropenia
annotated property: definition

tooth agenesis
type: Class
subclass of: tooth disease
definition: A tooth disease characterized by failure to develop on or more missing teeth.
id: DOID:0050591
database_cross_reference: ICD10CM:K00.0
database_cross_reference: ICD9CM:520.0
database_cross_reference: MSH:D000848
database_cross_reference: OMIM:106600
database_cross_reference: OMIM:150400
database_cross_reference: OMIM:313500
database_cross_reference: OMIM:602639
database_cross_reference: OMIM:604625
database_cross_reference: OMIM:610926
database_cross_reference: OMIM:613097
database_cross_reference: ORDO:2227
database_cross_reference: ORDO:99798
database_cross_reference: SNOMEDCT_US_2015_03_01:16958000
database_cross_reference: SNOMEDCT_US_2015_03_01:196265005
database_cross_reference: SNOMEDCT_US_2015_03_01:196266006
database_cross_reference: SNOMEDCT_US_2015_03_01:196269004
database_cross_reference: SNOMEDCT_US_2015_03_01:234951001
database_cross_reference: SNOMEDCT_US_2015_03_01:26624006
database_cross_reference: UMLS_CUI:C0399352
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: familial tooth agenesis
has_exact_synonym: hypodontia
has_exact_synonym: oligodontia
has_exact_synonym: selective tooth agenesis
in_subset: DO MGI slim

Axiom
annotated target: A tooth disease characterized by failure to develop on or more missing teeth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypodontia
annotated source: tooth agenesis
annotated property: definition

asphyxiating thoracic dystrophy
type: Class
subclass of: autosomal recessive disease
id: DOID:0050592
has_exact_synonym: Jeune syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:208500
database_cross_reference: OMIM:611263
database_cross_reference: OMIM:613091
database_cross_reference: OMIM:613819
database_cross_reference: OMIM:614376
has_obo_namespace: disease_ontology

primary congenital glaucoma
type: Class
subclass of: DOID 1686
id: DOID:0050593
database_cross_reference: OMIM:613085
database_cross_reference: OMIM:613086
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

glycogen storage disease IX
type: Class
subclass of: DOID 2747
id: DOID:0050594
database_cross_reference: OMIM:261750
database_cross_reference: OMIM:306000
database_cross_reference: OMIM:613027
has_obo_namespace: disease_ontology

mucormycosis
type: Class
id: DOID:0050595
has_obo_namespace: disease_ontology
deprecated: true

taeniasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat.
has_related_synonym: Beef tapeworm infection
id: DOID:0050596
has_alternative_id: DOID:10076
database_cross_reference: ICD10CM:B68.1
database_cross_reference: ICD9CM:123.2
has_related_synonym: Infection by Taeniarhynchus saginatus
database_cross_reference: SNOMEDCT_US_2015_03_01:69163003
has_related_synonym: Taenia saginata infectious disease
database_cross_reference: UMLS_CUI:C0152073
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat.
database_cross_reference: url:http://en.wikipedia.org/wiki/Taeniasis
annotated source: taeniasis
annotated property: definition

Axiom
annotated target: Infection by Taeniarhynchus saginatus
database_cross_reference: MTHICD9_2006:123.2
annotated source: taeniasis
annotated property: has_related_synonym

intestinal schistosomiasis
type: Class
subclass of: DOID 1395
definition: A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
id: DOID:0050597
has_alternative_id: DOID:13692
has_alternative_id: DOID:13721
has_alternative_id: DOID:3468
database_cross_reference: ICD10CM:B65.1
database_cross_reference: ICD10CM:B65.2
database_cross_reference: ICD9CM:120.1
database_cross_reference: ICD9CM:120.2
has_exact_synonym: Katayama fever
database_cross_reference: MSH:D012554
database_cross_reference: MSH:D012555
database_cross_reference: NCI:C35001
database_cross_reference: NCI:C35002
database_cross_reference: NCI:C35364
database_cross_reference: OMIM:181460
database_cross_reference: ORDO:1247
database_cross_reference: SNOMEDCT_US_2015_03_01:187114003
database_cross_reference: SNOMEDCT_US_2015_03_01:268058007
database_cross_reference: SNOMEDCT_US_2015_03_01:52179003
database_cross_reference: SNOMEDCT_US_2015_03_01:6421008
database_cross_reference: SNOMEDCT_US_2015_03_01:750009
has_exact_synonym: Schistosoma japonicum infection
has_exact_synonym: Schistosoma mansoni infectious disease
database_cross_reference: UMLS_CUI:C0036329
database_cross_reference: UMLS_CUI:C0036330
database_cross_reference: UMLS_CUI:C0276932
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: schistosomiasis japonica
in_subset: DO MGI slim

Axiom
annotated target: Katayama fever
database_cross_reference: SNOMEDCT_2005_07_31:268981007
annotated source: intestinal schistosomiasis
annotated property: has_exact_synonym

Axiom
annotated target: A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
database_cross_reference: url:http://en.wikipedia.org/wiki/Schistosomiasis
annotated source: intestinal schistosomiasis
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C35001
annotated target: Schistosoma japonicum infection
annotated source: intestinal schistosomiasis
annotated property: has_exact_synonym

extrapulmonary tuberculosis
type: Class
subclass of: DOID 399
definition: A tuberculosis that occurs at body sites other than the lung.
id: DOID:0050598
has_obo_namespace: disease_ontology

Axiom
annotated target: A tuberculosis that occurs at body sites other than the lung.
database_cross_reference: url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf
annotated source: extrapulmonary tuberculosis
annotated property: definition

abdominal tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
definition: An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
id: DOID:0050599
has_obo_namespace: disease_ontology

Axiom
annotated target: An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
database_cross_reference: url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf
annotated source: abdominal tuberculosis
annotated property: definition

ABCD syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 37
has_exact_synonym: ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS
definition: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
id: DOID:0050600
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:600501
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
database_cross_reference: url:http://en.wikipedia.org/wiki/ABCD_syndrome
database_cross_reference: url:http://omim.org/entry/600501
annotated source: ABCD syndrome
annotated property: definition

ADULT syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 37
definition: An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
id: DOID:0050601
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:103285
has_exact_synonym: acro-dermato-ungual-lacrimal-tooth syndrome
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
database_cross_reference: url:http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf
annotated source: ADULT syndrome
annotated property: definition

triple-A syndrome
type: Class
subclass of: autosomal recessive disease
has_exact_synonym: Achalasia-Addisonianism-Alacrimia syndrome
has_exact_synonym: Allgrove Syndrome
id: DOID:0050602
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:231550
has_obo_namespace: disease_ontology

acheiropody
type: Class
subclass of: DOID 2256
has_exact_synonym: Acheiropodia
id: DOID:0050603
has_exact_synonym: Horn-Kolb Syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:200500
has_obo_namespace: disease_ontology

acrocapitofemoral dysplasia
type: Class
subclass of: DOID 2256
id: DOID:0050604
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:607778
has_obo_namespace: disease_ontology

acrodermatitis enteropathica
type: Class
subclass of: DOID 896
id: DOID:0050605
database_cross_reference: OMIM:201100
has_obo_namespace: disease_ontology

acrokeratosis verruciformis
type: Class
subclass of: DOID 161
has_exact_synonym: Acrokeratosis verruciformis of Hopf
id: DOID:0050606
has_exact_synonym: Hopf disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:101900
has_obo_namespace: disease_ontology

Askin's tumor
type: Class
subclass of: DOID 3369
has_exact_synonym: Askin tumor
id: DOID:0050608
has_obo_namespace: disease_ontology

oral cavity carcinoma in situ
type: Class
subclass of: DOID 7
subclass of: DOID 8719
id: DOID:0050610
has_obo_namespace: disease_ontology

pharynx carcinoma in situ
type: Class
subclass of: DOID 7
subclass of: DOID 8719
id: DOID:0050611
has_obo_namespace: disease_ontology

gall bladder carcinoma in situ
type: Class
subclass of: gallbladder disease
subclass of: DOID 9053
id: DOID:0050612
has_obo_namespace: disease_ontology

bile duct carcinoma in situ
type: Class
subclass of: DOID 4138
subclass of: DOID 8719
id: DOID:0050613
has_obo_namespace: disease_ontology

bronchus carcinoma in situ
type: Class
subclass of: DOID 7
subclass of: DOID 8719
id: DOID:0050614
has_obo_namespace: disease_ontology

respiratory system cancer
type: Class
subclass of: organ system cancer
subclass of: DOID 1579
definition: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
id: DOID:0050615
has_obo_namespace: disease_ontology

Axiom
annotated target: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm
annotated source: respiratory system cancer
annotated property: definition

malignant Leydig cell tumor
type: Class
subclass of: DOID 192
id: DOID:0050616
has_alternative_id: DOID:4755
has_exact_synonym: Leydig cell tumor, malignant (morphologic abnormality)
database_cross_reference: NCI:C4213
database_cross_reference: SNOMEDCT_US_2015_03_01:77870005
database_cross_reference: UMLS_CUI:C0334410
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Leydig cell neoplasm
has_exact_synonym: malignant interstitial cell tumor

Axiom
database_cross_reference: NCI2004_11_17:C4213
annotated target: malignant Leydig cell neoplasm
annotated source: malignant Leydig cell tumor
annotated property: has_exact_synonym

Axiom
annotated target: Leydig cell tumor, malignant (morphologic abnormality)
database_cross_reference: SNOMEDCT_2005_07_31:77870005
annotated source: malignant Leydig cell tumor
annotated property: has_exact_synonym

malignant Sertoli cell tumor
type: Class
subclass of: DOID 192
id: DOID:0050617
has_obo_namespace: disease_ontology

malignant Sertoli-Leydig cell tumor
type: Class
subclass of: DOID 192
id: DOID:0050618
has_obo_namespace: disease_ontology

paranasal sinus cancer
type: Class
subclass of: respiratory system cancer
subclass of: DOID 1352
subclass of: DOID 299
definition: A respiratory system cancer that is located_in the paranasal sinuses.
id: DOID:0050619
has_alternative_id: DOID:1354
has_alternative_id: DOID:2442
has_alternative_id: DOID:2765
has_alternative_id: DOID:2767
has_alternative_id: DOID:4689
has_exact_synonym: Epidermoid carcinoma of the paranasal sinus
database_cross_reference: MSH:D010255
has_exact_synonym: Mucoepidermoid carcinoma of Accessory sinus
database_cross_reference: NCI:C6014
database_cross_reference: NCI:C6017
database_cross_reference: NCI:C6018
database_cross_reference: NCI:C6019
database_cross_reference: NCI:C8193
database_cross_reference: UMLS_CUI:C0280334
database_cross_reference: UMLS_CUI:C0854995
database_cross_reference: UMLS_CUI:C1335336
database_cross_reference: UMLS_CUI:C1335337
database_cross_reference: UMLS_CUI:C1335340
has_exact_synonym: adenoid cystic carcinoma of Accessory sinus
has_related_synonym: adenoid cystic carcinoma of paranasal sinus
has_obo_namespace: disease_ontology
has_exact_synonym: paranasal sinus adenocarcinoma
has_exact_synonym: paranasal sinus adenoid cystic carcinoma
has_exact_synonym: paranasal sinus mucoepidermoid carcinoma
has_exact_synonym: paranasal sinus squamous cell carcinoma
has_related_synonym: squamous cell carcinoma of paranasal sinus

Axiom
annotated target: Mucoepidermoid carcinoma of Accessory sinus
database_cross_reference: NCI2004_11_17:C6018
annotated source: paranasal sinus cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C6019
annotated target: adenoid cystic carcinoma of Accessory sinus
annotated source: paranasal sinus cancer
annotated property: has_exact_synonym

Axiom
annotated target: Epidermoid carcinoma of the paranasal sinus
database_cross_reference: NCI2004_11_17:C8193
annotated source: paranasal sinus cancer
annotated property: has_exact_synonym

Axiom
annotated target: A respiratory system cancer that is located_in the paranasal sinuses.
database_cross_reference: url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1
annotated source: paranasal sinus cancer
annotated property: definition

infiltrating renal pelvis transitional cell carcinoma
type: Class
subclass of: DOID 5974
id: DOID:0050620
has_obo_namespace: disease_ontology

respiratory system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: DOID 1579
definition: An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
id: DOID:0050621
has_obo_namespace: disease_ontology

Axiom
annotated target: An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_system
annotated source: respiratory system benign neoplasm
annotated property: definition

reproductive organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm that is located_in reproductive system organs.
id: DOID:0050622
has_obo_namespace: disease_ontology

Axiom
annotated target: An organ system benign neoplasm that is located_in reproductive system organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Reproductive_system
annotated source: reproductive organ benign neoplasm
annotated property: definition

bladder benign neoplasm
type: Class
subclass of: DOID 731
id: DOID:0050623
has_obo_namespace: disease_ontology

gastrointestinal system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: DOID 77
definition: An organ system benign neoplasm located_in gastrointestinal tract organs.
id: DOID:0050624
has_obo_namespace: disease_ontology

Axiom
annotated target: An organ system benign neoplasm located_in gastrointestinal tract organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract
annotated source: gastrointestinal system benign neoplasm
annotated property: definition

biliary tract neoplasm
type: Class
subclass of: DOID 3117
definition: A hepatobiliary benign neoplasm located_in the biliary tract.
id: DOID:0050625
has_alternative_id: DOID:4609
database_cross_reference: NCI:C4441
database_cross_reference: SNOMEDCT_US_2015_03_01:126855001
database_cross_reference: UMLS_CUI:C0345913
has_obo_namespace: disease_ontology
has_exact_synonym: extrahepatic bile duct neoplasm
has_exact_synonym: neoplasm of extrahepatic bile ducts (disorder)
has_exact_synonym: tumor of the extrahepatic bile duct

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:126855001
annotated target: neoplasm of extrahepatic bile ducts (disorder)
annotated source: biliary tract neoplasm
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4441
annotated target: tumor of the extrahepatic bile duct
annotated source: biliary tract neoplasm
annotated property: has_exact_synonym

Axiom
annotated target: A hepatobiliary benign neoplasm located_in the biliary tract.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract
annotated source: biliary tract neoplasm
annotated property: definition

gastrointestinal neuroendocrine tumor
type: Class
subclass of: DOID 3119
definition: A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
id: DOID:0050626
has_obo_namespace: disease_ontology
has_exact_synonym: malignant gastrointestinal neuroendocrine tumor
in_subset: DO cancer slim

Axiom
annotated target: A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=44904
annotated source: gastrointestinal neuroendocrine tumor
annotated property: definition

advanced sleep phase syndrome
type: Class
subclass of: DOID 535
definition: A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
id: DOID:0050628
database_cross_reference: OMIM:604348
database_cross_reference: OMIM:615224
database_cross_reference: ORDO:164736
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: familial advanced sleep-phase syndrome
in_subset: DO MGI slim

Axiom
annotated target: A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
database_cross_reference: url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome
annotated source: advanced sleep phase syndrome
annotated property: definition

Aicardi-Goutieres syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
has_exact_synonym: Cree encephalitis
id: DOID:0050629
database_cross_reference: ICD10CM:G31.8
database_cross_reference: OMIM:225750
database_cross_reference: OMIM:610181
database_cross_reference: OMIM:610329
database_cross_reference: OMIM:610333
database_cross_reference: OMIM:612952
database_cross_reference: OMIM:615010
database_cross_reference: OMIM:615846
database_cross_reference: ORDO:51
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
database_cross_reference: url:http://omim.org/entry/225750
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1475/
annotated source: Aicardi-Goutieres syndrome
annotated property: definition

Aland Island eye disease
type: Class
subclass of: DOID 5614
id: DOID:0050630
has_exact_synonym: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
has_exact_synonym: Forsius-Eriksson syndrome
database_cross_reference: OMIM:300600
has_obo_namespace: disease_ontology

Allan-Herndon-Dudley syndrome
type: Class
subclass of: X-linked disease
has_exact_synonym: ALLAN-HERNDON SYNDROME
definition: An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
id: DOID:0050631
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:300523
has_obo_namespace: disease_ontology

Axiom
annotated target: An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome
database_cross_reference: url:http://omim.org/entry/300523
annotated source: Allan-Herndon-Dudley syndrome
annotated property: definition

oculocutaneous albinism
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
id: DOID:0050632
database_cross_reference: ICD10CM:E70.3
database_cross_reference: OMIM:203100
database_cross_reference: OMIM:203200
database_cross_reference: OMIM:203290
database_cross_reference: OMIM:606574
database_cross_reference: OMIM:606952
database_cross_reference: OMIM:614473
database_cross_reference: OMIM:615079
database_cross_reference: OMIM:615312
database_cross_reference: ORDO:55
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
database_cross_reference: url:en.wikipedia.org/wiki/Oculocutaneous_albinism
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
annotated source: oculocutaneous albinism
annotated property: definition

ocular albinism
type: Class
subclass of: DOID 5614
id: DOID:0050633
database_cross_reference: OMIM:300500
has_obo_namespace: disease_ontology

alopecia universalis
type: Class
subclass of: DOID 987
has_exact_synonym: ALOPECIA UNIVERSALIS CONGENITA
id: DOID:0050634
database_cross_reference: OMIM:203655
has_obo_namespace: disease_ontology

alternating hemiplegia of childhood
type: Class
subclass of: hemiplegia
definition: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
has_exact_synonym: AHC
id: DOID:0050635
database_cross_reference: ICD10CM:G98
database_cross_reference: OMIM:104290
database_cross_reference: OMIM:614820
database_cross_reference: ORDO:2131
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood
annotated source: alternating hemiplegia of childhood
annotated property: definition

familial visceral amyloidosis
type: Class
subclass of: DOID 9120
has_exact_synonym: AMYLOIDOSIS, FAMILIAL RENAL
id: DOID:0050636
has_exact_synonym: German type amyloidosis
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:105200
has_exact_synonym: OSTERTAG TYPE AMYLOIDOSIS
has_obo_namespace: disease_ontology
has_exact_synonym: systemic nonneuropathic amyloidosis

Finnish type amyloidosis
type: Class
subclass of: DOID 9120
has_exact_synonym: AMYLOIDOSIS, MERETOJA TYPE
id: DOID:0050637
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:105120
has_obo_namespace: disease_ontology

transthyretin amyloidosis
type: Class
subclass of: DOID 9120
has_exact_synonym: Amyloidosis, hereditary, transthyretin-related
definition: An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
has_exact_synonym: Corino de Andrade's disease
id: DOID:0050638
has_exact_synonym: Familial transthyretin amyloidosis
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:105210
has_exact_synonym: TTR amyloidosis
has_obo_namespace: disease_ontology
has_exact_synonym: familial amyloid polyneuropathy
has_exact_synonym: transthyretin-related hereditary amyloidosis

Axiom
annotated target: An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1194/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19372706
database_cross_reference: url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451
annotated source: transthyretin amyloidosis
annotated property: definition

primary cutaneous amyloidosis
type: Class
subclass of: DOID 9120
definition: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
id: DOID:0050639
database_cross_reference: OMIM:105250
database_cross_reference: OMIM:613955
database_cross_reference: ORDO:137807
has_exact_synonym: PCA
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: familial primary localized cutaneous amyloidosis
in_subset: DO MGI slim

Axiom
annotated target: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19663869
annotated source: primary cutaneous amyloidosis
annotated property: definition

anauxetic dysplasia
type: Class
subclass of: spondyloepimetaphyseal dysplasia
id: DOID:0050640
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:607095
has_obo_namespace: disease_ontology

Rh deficiency syndrome
type: Class
subclass of: DOID 583
id: DOID:0050641
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:268150
has_obo_namespace: disease_ontology

hypochromic microcytic anemia
type: Class
subclass of: microcytic anemia
definition: A microcytic anemia characterized by paler than normal blood cells.
id: DOID:0050642
database_cross_reference: OMIM:206100
database_cross_reference: OMIM:615234
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A microcytic anemia characterized by paler than normal blood cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypochromic_anemia
annotated source: hypochromic microcytic anemia
annotated property: definition

anonychia congenita
type: Class
subclass of: DOID 4123
id: DOID:0050643
has_exact_synonym: HYPONYCHIA CONGENITA
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:206800
has_obo_namespace: disease_ontology

arterial calcification of infancy
type: Class
subclass of: DOID 178
definition: A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
id: DOID:0050644
database_cross_reference: OMIM:208000
database_cross_reference: OMIM:614473
database_cross_reference: ORDO:51608
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: generalized arterial calcification of infancy
has_exact_synonym: idiopathic infantile arterial calcification
has_exact_synonym: infantile arteriosclerosis
in_subset: DO MGI slim

Axiom
annotated target: A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
database_cross_reference: url:http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification
database_cross_reference: url:http://www.omim.org/entry/208000
annotated source: arterial calcification of infancy
annotated property: definition

arterial tortuosity syndrome
type: Class
subclass of: DOID 65
definition: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
id: DOID:0050645
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:208050
has_obo_namespace: disease_ontology

Axiom
annotated target: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
database_cross_reference: url:http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome
annotated source: arterial tortuosity syndrome
annotated property: definition

distal arthrogryposis
type: Class
subclass of: DOID 66
definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
has_exact_synonym: Arthrogryposis Multiplex Congenita
id: DOID:0050646
has_exact_synonym: Freeman-Sheldon syndrome
has_exact_synonym: Freeman-Sheldon syndrome variant
database_cross_reference: OMIM:108120
database_cross_reference: OMIM:108145
database_cross_reference: OMIM:108200
database_cross_reference: OMIM:114300
database_cross_reference: OMIM:121050
database_cross_reference: OMIM:121070
database_cross_reference: OMIM:158300
database_cross_reference: OMIM:178110
database_cross_reference: OMIM:187370
database_cross_reference: OMIM:193700
database_cross_reference: OMIM:601680
database_cross_reference: OMIM:609128
database_cross_reference: OMIM:614335
database_cross_reference: OMIM:615065
database_cross_reference: ORDO:1147
database_cross_reference: ORDO:97120
has_exact_synonym: Sheldon-Hall syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
database_cross_reference: url:http://en.wikipedia.org/wiki/Arthrogryposis
annotated source: distal arthrogryposis
annotated property: definition

Arts syndrome
type: Class
subclass of: X-linked disease
definition: An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
id: DOID:0050647
has_exact_synonym: Lethal ataxia with deafness and optic atrophy
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:301835
has_obo_namespace: disease_ontology

Axiom
annotated target: An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/arts-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK2591/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20301738
database_cross_reference: url:http://www.omim.org/entry/301835
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN
annotated source: Arts syndrome
annotated property: definition

atelosteogenesis
type: Class
subclass of: DOID 2256
id: DOID:0050648
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:108720
database_cross_reference: OMIM:108721
database_cross_reference: OMIM:256050
has_obo_namespace: disease_ontology

atransferrinemia
type: Class
subclass of: DOID 896
id: DOID:0050649
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:209300
has_obo_namespace: disease_ontology
has_exact_synonym: familial hypotransferrinemia

familial atrial fibrillation
type: Class
subclass of: atrial fibrillation
has_exact_synonym: ATFB
definition: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
id: DOID:0050650
database_cross_reference: OMIM:607554
database_cross_reference: OMIM:608583
database_cross_reference: OMIM:608988
database_cross_reference: OMIM:611493
database_cross_reference: OMIM:611494
database_cross_reference: OMIM:612201
database_cross_reference: OMIM:612240
database_cross_reference: OMIM:613055
database_cross_reference: OMIM:613980
database_cross_reference: OMIM:614022
database_cross_reference: OMIM:614049
database_cross_reference: OMIM:614050
database_cross_reference: OMIM:615377
database_cross_reference: OMIM:615378
database_cross_reference: OMIM:615770
database_cross_reference: ORDO:334
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation
annotated source: familial atrial fibrillation
annotated property: definition

atrioventricular septal defect
type: Class
subclass of: DOID 1681
definition: A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
has_exact_synonym: AVCD
has_exact_synonym: AVSD
id: DOID:0050651
has_exact_synonym: ECD
database_cross_reference: ICD10CM:Q21.2
database_cross_reference: ICD9CM:745.6
database_cross_reference: ICD9CM:745.60
database_cross_reference: MSH:D004694
database_cross_reference: OMIM:600309
database_cross_reference: OMIM:606215
database_cross_reference: OMIM:606217
database_cross_reference: OMIM:614430
database_cross_reference: OMIM:614474
database_cross_reference: ORDO:98722
database_cross_reference: SNOMEDCT_US_2015_03_01:15459006
database_cross_reference: SNOMEDCT_US_2015_03_01:204322008
database_cross_reference: SNOMEDCT_US_2015_03_01:204323003
database_cross_reference: SNOMEDCT_US_2015_03_01:204326006
database_cross_reference: SNOMEDCT_US_2015_03_01:204331008
database_cross_reference: UMLS_CUI:C0014116
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: atrioventricular canal defect
has_obo_namespace: disease_ontology
has_exact_synonym: endocardial cushion defect
in_subset: DO MGI slim

Axiom
annotated target: A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect
database_cross_reference: url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html
annotated source: atrioventricular septal defect
annotated property: definition

soft tissue cancer
type: Class
id: DOID:0050652
has_obo_namespace: disease_ontology
deprecated: true

dysplastic nevus
type: Class
id: DOID:0050653
has_obo_namespace: disease_ontology
has_exact_synonym: nevus of Clark
deprecated: true

Baller-Gerold syndrome
type: Class
subclass of: DOID_11971
definition: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
id: DOID:0050654
database_cross_reference: MSH:C536788
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:218600
database_cross_reference: ORDO:1223
database_cross_reference: SNOMEDCT_US_2015_03_01:77608001
database_cross_reference: UMLS_CUI:C0265308
has_obo_namespace: disease_ontology

Axiom
annotated target: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1204/
annotated source: Baller-Gerold syndrome
annotated property: definition

Bamforth-Lazarus syndrome
type: Class
subclass of: DOID 1459
id: DOID:0050655
has_exact_synonym: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:241850
has_obo_namespace: disease_ontology

pseudo-TORCH syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050656
comment: No OMIM mapping, confirmed by DO. [SN].
database_cross_reference: OMIM:251290
has_exact_synonym: band-like calcification with simplified gyration and polymicrogyria
has_obo_namespace: disease_ontology

Bannayan-Riley-Ruvalcaba syndrome
type: Class
subclass of: autosomal dominant disease
has_exact_synonym: BANNAYAN-ZONANA SYNDROME
id: DOID:0050657
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:153480
has_exact_synonym: RILEY-SMITH SYNDROME
has_exact_synonym: RUVALCABA-MYHRE-SMITH SYNDROME
has_obo_namespace: disease_ontology

Bart-Pumphrey syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0050658
has_exact_synonym: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:149200
has_obo_namespace: disease_ontology

biotin-responsive basal ganglia disease
type: Class
subclass of: DOID 679
id: DOID:0050659
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:607483
has_obo_namespace: disease_ontology

Beare-Stevenson cutis gyrata syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0050660
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:123790
has_obo_namespace: disease_ontology

vitelliform macular dystrophy
type: Class
subclass of: DOID 4448
definition: A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
has_exact_synonym: Best disease
has_exact_synonym: Best macular dystrophy
id: DOID:0050661
database_cross_reference: ICD10CM:H35.5
database_cross_reference: OMIM:153700
database_cross_reference: OMIM:153840
database_cross_reference: OMIM:608161
database_cross_reference: OMIM:616151
database_cross_reference: OMIM:616152
database_cross_reference: ORDO:1243
database_cross_reference: ORDO:99000
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: juvenile-onset vitelliform macular dystrophy
in_subset: DO MGI slim

Axiom
annotated target: A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
database_cross_reference: url:http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy
annotated source: vitelliform macular dystrophy
annotated property: definition

bestrophinopathy
type: Class
subclass of: DOID 4448
id: DOID:0050662
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:611809
has_exact_synonym: autosomal recessive bestrophinopathy
has_obo_namespace: disease_ontology

Bethlem myopathy
type: Class
subclass of: congenital muscular dystrophy
id: DOID:0050663
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:158810
has_exact_synonym: benign congenital muscular dystrophy
has_obo_namespace: disease_ontology

Bietti crystalline corneoretinal dystrophy
type: Class
subclass of: DOID 8466
has_exact_synonym: Bietti's crystalline dystrophy
id: DOID:0050664
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:210370
has_obo_namespace: disease_ontology

fetal alcohol syndrome
type: Class
subclass of: fetal alcohol spectrum disorder
definition: A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
id: DOID:0050665
has_obo_namespace: disease_ontology

Axiom
annotated target: A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome
database_cross_reference: url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html
annotated source: fetal alcohol syndrome
annotated property: definition

partial fetal alcohol syndrome
type: Class
subclass of: fetal alcohol spectrum disorder
definition: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
id: DOID:0050666
has_obo_namespace: disease_ontology

Axiom
annotated target: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
database_cross_reference: url:http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
database_cross_reference: url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf
annotated source: partial fetal alcohol syndrome
annotated property: definition

alcohol-related neurodevelopmental disorder
type: Class
subclass of: fetal alcohol spectrum disorder
definition: A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
has_exact_synonym: ARND
id: DOID:0050667
has_obo_namespace: disease_ontology
has_exact_synonym: static encephalopathy

Axiom
annotated target: A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
database_cross_reference: url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf
annotated source: alcohol-related neurodevelopmental disorder
annotated property: definition

alcohol-related birth defect
type: Class
subclass of: fetal alcohol spectrum disorder
definition: A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
has_exact_synonym: ARBD
id: DOID:0050668
has_obo_namespace: disease_ontology

Axiom
annotated target: A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
database_cross_reference: url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html
annotated source: alcohol-related birth defect
annotated property: definition

spastic cerebral palsy
type: Class
subclass of: DOID 1969
definition: A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
id: DOID:0050669
has_obo_namespace: disease_ontology

Axiom
annotated target: A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
database_cross_reference: url:http://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html
database_cross_reference: url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html
annotated source: spastic cerebral palsy
annotated property: definition

ataxic cerebral palsy
type: Class
subclass of: DOID 1969
definition: A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
id: DOID:0050670
has_obo_namespace: disease_ontology
has_exact_synonym: hypotonic cerebral palsy

Axiom
annotated target: A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic
database_cross_reference: url:http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html
annotated source: ataxic cerebral palsy
annotated property: definition

female breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-15T02:48:20Z
id: DOID:0050671
has_obo_namespace: disease_ontology
created by: snadendla

dyskinetic cerebral palsy
type: Class
subclass of: DOID 1969
definition: A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
has_exact_synonym: Athetoid Dyskinetic Cerebral Palsy
id: DOID:0050672
has_obo_namespace: disease_ontology

Axiom
annotated target: A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic
annotated source: dyskinetic cerebral palsy
annotated property: definition

mixed cerebral palsy
type: Class
subclass of: DOID 1969
definition: A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
id: DOID:0050673
has_obo_namespace: disease_ontology

Axiom
annotated target: A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
database_cross_reference: url:http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy
database_cross_reference: url:http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html
annotated source: mixed cerebral palsy
annotated property: definition

congenital bile acid synthesis defect
type: Class
subclass of: DOID 1701
has_exact_synonym: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
has_exact_synonym: CBA
id: DOID:0050674
database_cross_reference: ICD10CM:K76.8
database_cross_reference: OMIM:214950
database_cross_reference: OMIM:235555
database_cross_reference: OMIM:607765
database_cross_reference: OMIM:613812
database_cross_reference: ORDO:79095
database_cross_reference: ORDO:79301
database_cross_reference: ORDO:79302
database_cross_reference: ORDO:79303
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Birk-Barel syndrome
type: Class
subclass of: autosomal dominant disease
has_exact_synonym: BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
id: DOID:0050675
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:612292
has_obo_namespace: disease_ontology

Birt-Hogg-Dube syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0050676
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:135150
has_obo_namespace: disease_ontology

Bjornstad syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050677
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:262000
has_obo_namespace: disease_ontology

Blau syndrome
type: Class
subclass of: autosomal dominant disease
has_exact_synonym: ARTHROCUTANEOUVEAL GRANULOMATOSIS
definition: An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
id: DOID:0050678
has_exact_synonym: Jabs syndrome
database_cross_reference: NCI:C116794
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:186580
database_cross_reference: SNOMEDCT:699861000
has_obo_namespace: disease_ontology

Axiom
annotated target: An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
database_cross_reference: url:http://en.wikipedia.org/wiki/Blau_syndrome
database_cross_reference: url:http://www.omim.org/entry/186580?search=186580&highlight=186580
annotated source: Blau syndrome
annotated property: definition

blue cone monochromacy
type: Class
subclass of: DOID_13911
definition: An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
id: DOID:0050679
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:303700
has_obo_namespace: disease_ontology

Axiom
annotated target: An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
database_cross_reference: url:http://omim.org/entry/303700
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16
annotated source: blue cone monochromacy
annotated property: definition

Boomerang dysplasia
type: Class
subclass of: DOID 2256
id: DOID:0050680
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:112310
has_obo_namespace: disease_ontology

Borjeson-Forssman-Lehmann syndrome
type: Class
subclass of: X-linked disease
definition: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
has_exact_synonym: BORJESON SYNDROME
id: DOID:0050681
database_cross_reference: MSH:C536575
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:301900
database_cross_reference: SNOMEDCT_US_2015_03_01:21634003
database_cross_reference: UMLS_CUI:C0265339
has_obo_namespace: disease_ontology

Axiom
annotated target: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1
database_cross_reference: url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated property: definition

Athabaskan brainstem dysgenesis syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050682
has_exact_synonym: NAVAJO BRAINSTEM SYNDROME
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:601536
has_obo_namespace: disease_ontology

Bothnia retinal dystrophy
type: Class
subclass of: DOID 8501
id: DOID:0050683
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:607475
has_exact_synonym: Vasterbotten dystrophy
has_obo_namespace: disease_ontology

Bowen-Conradi syndrome
type: Class
subclass of: autosomal recessive disease
id: DOID:0050684
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:211180
has_obo_namespace: disease_ontology

small cell carcinoma
type: Class
subclass of: DOID 305
creation date: 2011-06-13T01:25:14Z
definition: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
id: DOID:0050685
has_alternative_id: DOID:7137
database_cross_reference: NCI:C4099
database_cross_reference: SNOMEDCT_US_2015_03_01:189557009
database_cross_reference: SNOMEDCT_US_2015_03_01:5958006
has_exact_synonym: Small cell carcinoma - intermediate cell
has_exact_synonym: Small cell carcinoma, intermediate cell (morphologic abnormality)
database_cross_reference: UMLS_CUI:C0334239
has_obo_namespace: disease_ontology
has_exact_synonym: intermediate cell small cell carcinoma
created by: snadendla

Axiom
annotated target: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Small_cell_carcinoma
annotated source: small cell carcinoma
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:189557009
annotated target: Small cell carcinoma - intermediate cell
annotated source: small cell carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:5958006
annotated target: Small cell carcinoma, intermediate cell (morphologic abnormality)
annotated source: small cell carcinoma
annotated property: has_exact_synonym

organ system cancer
type: Class
subclass of: DOID 162
subclass of: DOID 7
creation date: 2011-06-13T03:28:33Z
definition: A cancer that is classified based on the organ it starts in.
id: DOID:0050686
has_obo_namespace: disease_ontology
created by: snadendla

Axiom
annotated target: A cancer that is classified based on the organ it starts in.
database_cross_reference: url:http://cancerguide.org/basic.html
annotated source: organ system cancer
annotated property: definition

cell type cancer
type: Class
subclass of: DOID 162
creation date: 2011-06-13T03:28:50Z
definition: A cancer that is classified by the type of cell from which it is derived.
id: DOID:0050687
has_obo_namespace: disease_ontology
created by: snadendla

Axiom
annotated target: A cancer that is classified by the type of cell from which it is derived.
database_cross_reference: url:http://cancerguide.org/basic.html
database_cross_reference: url:http://en.wikipedia.org/wiki/Cancer
annotated source: cell type cancer
annotated property: definition

anal canal cancer
type: Class
subclass of: DOID 5672
creation date: 2011-06-14T01:34:36Z
definition: A large intestine cancer that is located_in the terminal part of the large intestine.
id: DOID:0050688
has_obo_namespace: disease_ontology
created by: snadendla

Axiom
annotated target: A large intestine cancer that is located_in the terminal part of the large intestine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Anal_canal
annotated source: anal canal cancer
annotated property: definition

brachydactyly-syndactyly syndrome
type: Class
subclass of: autosomal genetic disease
creation date: 2011-06-17T03:55:47Z
id: DOID:0050689
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:610713
has_obo_namespace: disease_ontology
created by: snadendla

brachyolmia
type: Class
subclass of: DOID 2256
creation date: 2011-06-17T04:00:27Z
definition: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
id: DOID:0050690
database_cross_reference: OMIM:113500
database_cross_reference: OMIM:271530
database_cross_reference: OMIM:271630
database_cross_reference: OMIM:613678
database_cross_reference: ORDO:1293
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: brachyrachia
has_obo_namespace: disease_ontology
created by: snadendla
in_subset: DO MGI slim

Axiom
annotated target: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/10968486
annotated source: brachyolmia
annotated property: definition

branchiooculofacial syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2011-06-17T04:10:18Z
definition: An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
id: DOID:0050691
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:113620
has_obo_namespace: disease_ontology
created by: snadendla

Axiom
annotated target: An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK55063/
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract
annotated source: branchiooculofacial syndrome
annotated property: definition

Brody myopathy
type: Class
subclass of: DOID 440
creation date: 2011-06-17T04:30:49Z
id: DOID:0050692
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:601003
has_obo_namespace: disease_ontology
created by: snadendla

Brooke-Spiegler syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2011-06-17T04:34:10Z
id: DOID:0050693
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:605041
has_obo_namespace: disease_ontology
created by: snadendla

Brown-Vialetto-Van Laere syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2011-06-17T04:38:07Z
id: DOID:0050694
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:211530
has_obo_namespace: disease_ontology
created by: snadendla

malignant pleural solitary fibrous tumor
type: Class
subclass of: DOID 5158
creation date: 2011-06-27T09:57:44Z
id: DOID:0050695
has_obo_namespace: disease_ontology
created by: snadendla

fetal alcohol spectrum disorder
type: Class
subclass of: specific developmental disorder
creation date: 2011-12-01T01:01:25Z
definition: A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
id: DOID:0050696
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html
annotated source: fetal alcohol spectrum disorder
annotated property: definition

chorioamnionitis
type: Class
subclass of: DOID 780
creation date: 2012-01-03T01:13:08Z
definition: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
id: DOID:0050697
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chorioamnionitis
database_cross_reference: url:http://www.merriam-webster.com/medlineplus/Chorioamnionitis
annotated source: chorioamnionitis
annotated property: definition

funisitis
type: Class
subclass of: DOID 65
creation date: 2012-01-03T01:18:35Z
definition: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
id: DOID:0050698
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
database_cross_reference: url:http://en.wikipedia.org/wiki/Funisitis
annotated source: funisitis
annotated property: definition

Dent disease
type: Class
subclass of: DOID 447
creation date: 2015-03-12T14:32:47Z
definition: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
id: DOID:0050699
has_exact_synonym: Dent disease 1
has_exact_synonym: Dent disease 2
has_exact_synonym: Dent's disease
database_cross_reference: MSH:C538212
database_cross_reference: MSH:C564487
database_cross_reference: MSH:D057973
database_cross_reference: OMIM:300009
database_cross_reference: OMIM:300555
database_cross_reference: ORDO:1652
database_cross_reference: SNOMEDCT_US_2015_03_01:444645005
database_cross_reference: UMLS_CUI:C0878681
database_cross_reference: UMLS_CUI:C1845167
database_cross_reference: UMLS_CUI:C1848336
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dent%27s_disease
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/dent-disease
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652
annotated source: Dent disease
annotated property: definition

cardiomyopathy
type: Class
subclass of: DOID 114
creation date: 2012-01-03T02:54:11Z
definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
has_exact_synonym: Cardiomyopathies
id: DOID:0050700
database_cross_reference: ICD10CM:I42
database_cross_reference: ICD10CM:I42.9
database_cross_reference: ICD10CM:I51.5
database_cross_reference: ICD9CM:425
database_cross_reference: ICD9CM:425.9
database_cross_reference: MSH:D009202
comment: MSH:D009202 added from NeuroDevNet [WAK].
database_cross_reference: NCI:C34830
database_cross_reference: NCI:C53654
database_cross_reference: SNOMEDCT_US_2015_03_01:155351008
database_cross_reference: SNOMEDCT_US_2015_03_01:155353006
database_cross_reference: SNOMEDCT_US_2015_03_01:195035002
database_cross_reference: SNOMEDCT_US_2015_03_01:195037005
database_cross_reference: SNOMEDCT_US_2015_03_01:20072003
database_cross_reference: SNOMEDCT_US_2015_03_01:266244008
database_cross_reference: SNOMEDCT_US_2015_03_01:266301006
database_cross_reference: SNOMEDCT_US_2015_03_01:57809008
database_cross_reference: SNOMEDCT_US_2015_03_01:85898001
database_cross_reference: SNOMEDCT_US_2015_03_01:89461002
database_cross_reference: SNOMEDCT_US_2015_03_01:89600009
database_cross_reference: UMLS_CUI:C0033141
database_cross_reference: UMLS_CUI:C0036529
database_cross_reference: UMLS_CUI:C0878544
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: Cardiomyopathies
database_cross_reference: MSH:D009202
annotated source: cardiomyopathy
annotated property: has_exact_synonym

Axiom
annotated target: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiomyopathy
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/
annotated source: cardiomyopathy
annotated property: definition

electroclinical syndrome
type: Class
subclass of: DOID 1826
creation date: 2012-04-11T11:42:46Z
definition: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
id: DOID:0050701
has_obo_namespace: disease_ontology
has_exact_synonym: electro-clinical syndrome
created by: lschriml

Axiom
annotated target: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
database_cross_reference: url:http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated source: electroclinical syndrome
annotated property: definition

neonatal period electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
creation date: 2012-04-11T11:48:18Z
definition: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
id: DOID:0050702
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
database_cross_reference: JA:Epilepsy Genetics Kiel
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20196795
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22182677
annotated source: neonatal period electroclinical syndrome
annotated property: definition

infancy electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
creation date: 2012-04-11T11:48:18Z
definition: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
id: DOID:0050703
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
database_cross_reference: JA:Epilepsy Genetics Kiel
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated source: infancy electroclinical syndrome
annotated property: definition

childhood electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
creation date: 2012-04-11T11:48:18Z
definition: An electroclinical syndrome with onset in childhood between one and 12 years of age.
id: DOID:0050704
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An electroclinical syndrome with onset in childhood between one and 12 years of age.
database_cross_reference: JA:Epilepsy Genetics Kiel
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated source: childhood electroclinical syndrome
annotated property: definition

adolescence-adult electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
creation date: 2012-04-11T11:48:18Z
definition: An electroclinical syndrome with onset in adolescence and adulthood.
id: DOID:0050705
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An electroclinical syndrome with onset in adolescence and adulthood.
database_cross_reference: JA:Epilepsy_Genetics_Kiel
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated source: adolescence-adult electroclinical syndrome
annotated property: definition

variable age at onset electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
creation date: 2012-04-11T11:48:18Z
id: DOID:0050706
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic epilepsy
type: Class
creation date: 2012-04-11T01:42:13Z
id: DOID:0050707
has_obo_namespace: disease_ontology
created by: lschriml
deprecated: true

early onset absence epilepsy
type: Class
subclass of: childhood electroclinical syndrome
creation date: 2012-04-11T02:29:04Z
definition: A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
id: DOID:0050708
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
database_cross_reference: JA:Epilepsy Genetics Kiel
database_cross_reference: url:http://www.ilae-epilepsy.org
annotated source: early onset absence epilepsy
annotated property: definition

Ohtahara syndrome
type: Class
subclass of: neonatal period electroclinical syndrome
creation date: 2012-05-10T10:02:58Z
definition: A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
id: DOID:0050709
has_exact_synonym: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
has_exact_synonym: Early Infantile Epileptic Encephalopathy
has_exact_synonym: Early Infantile Epileptic Encephalopathy with Burst-Suppression
database_cross_reference: OMIM:300088
database_cross_reference: OMIM:300607
database_cross_reference: OMIM:300672
database_cross_reference: OMIM:308350
database_cross_reference: OMIM:609304
database_cross_reference: OMIM:612164
database_cross_reference: OMIM:613402
database_cross_reference: OMIM:613477
database_cross_reference: OMIM:613720
database_cross_reference: OMIM:613721
database_cross_reference: OMIM:613722
database_cross_reference: OMIM:614558
database_cross_reference: OMIM:614959
database_cross_reference: OMIM:615006
database_cross_reference: OMIM:615338
database_cross_reference: OMIM:615473
database_cross_reference: OMIM:615476
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ohtahara_syndrome
database_cross_reference: url:http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm
annotated source: Ohtahara syndrome
annotated property: definition

3-Methylcrotonyl-CoA carboxylase deficiency
type: Class
subclass of: DOID 9252
creation date: 2012-05-22T10:32:44Z
has_exact_synonym: 3-Methylcrotonylglycinuria
has_exact_synonym: 3MCC deficiency
definition: An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
has_exact_synonym: BMCC deficiency
id: DOID:0050710
database_cross_reference: OMIM:210200
database_cross_reference: OMIM:210210
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
database_cross_reference: url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency
database_cross_reference: url:http://omim.org/entry/210200
annotated source: 3-Methylcrotonyl-CoA carboxylase deficiency
annotated property: definition

aceruloplasminemia
type: Class
subclass of: DOID 2351
creation date: 2012-05-22T11:47:25Z
definition: An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
id: DOID:0050711
database_cross_reference: OMIM:604290
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Aceruloplasminemia
database_cross_reference: url:http://omim.org/entry/604290?search=604290&highlight=604290
annotated source: aceruloplasminemia
annotated property: definition

AGAT deficiency
type: Class
subclass of: cerebral creatine deficiency syndrome
creation date: 2012-05-22T11:53:57Z
definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
id: DOID:0050712
database_cross_reference: OMIM:612718
has_exact_synonym: arginine:glycine amidinotransferase deficiency
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency
annotated source: AGAT deficiency
annotated property: definition

fatal infantile encephalocardiomyopathy
type: Class
subclass of: DOID 700
creation date: 2012-05-22T01:03:41Z
definition: A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
id: DOID:0050713
database_cross_reference: OMIM:604377
database_cross_reference: OMIM:615119
database_cross_reference: ORDO:1561
comment: Xref MGI.
has_exact_synonym: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
has_obo_namespace: disease_ontology
has_exact_synonym: fatal infantile COX deficiency
has_exact_synonym: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
database_cross_reference: url:http://omim.org/entry/604377
annotated source: fatal infantile encephalocardiomyopathy
annotated property: definition

methylmalonic aciduria and homocystinuria type cblC
type: Class
subclass of: DOID_14749
creation date: 2012-05-23T03:26:25Z
definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
has_exact_synonym: Cobalamin C deficiency
id: DOID:0050715
database_cross_reference: OMIM:277400
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
annotated source: methylmalonic aciduria and homocystinuria type cblC
annotated property: definition

methylmalonic aciduria and homocystinuria type cblD
type: Class
subclass of: DOID_14749
creation date: 2012-05-23T03:26:25Z
definition: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
has_exact_synonym: Cobalamin D deficiency
id: DOID:0050716
database_cross_reference: OMIM:277410
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/18385497
annotated source: methylmalonic aciduria and homocystinuria type cblD
annotated property: definition

methylmalonic aciduria and homocystinuria type cblF
type: Class
subclass of: DOID_14749
creation date: 2012-05-23T03:26:25Z
definition: A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl).
has_exact_synonym: Cobalamin F deficiency
id: DOID:0050717
database_cross_reference: OMIM:277380
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl).
annotated source: methylmalonic aciduria and homocystinuria type cblF
annotated property: definition

vitamin metabolic disorder
type: Class
subclass of: DOID 655
creation date: 2012-06-11T02:44:53Z
definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
id: DOID:0050718
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
database_cross_reference: url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism
annotated source: vitamin metabolic disorder
annotated property: definition

cerebral folate receptor alpha deficiency
type: Class
subclass of: vitamin metabolic disorder
creation date: 2012-06-11T02:58:59Z
definition: A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
id: DOID:0050719
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
database_cross_reference: url:http://en.wikipedia.org/wiki/B_vitamins
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19732866
annotated source: cerebral folate receptor alpha deficiency
annotated property: definition

ornithine translocase deficiency
type: Class
subclass of: DOID 9252
creation date: 2012-06-13T03:09:31Z
definition: An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
id: DOID:0050720
has_exact_synonym: HHH syndrome
has_exact_synonym: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
database_cross_reference: OMIM:238970
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx
annotated source: ornithine translocase deficiency
annotated property: definition

serine deficiency
type: Class
subclass of: DOID 9252
creation date: 2012-06-13T03:09:31Z
definition: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
id: DOID:0050721
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15021249
annotated source: serine deficiency
annotated property: definition

PHGDH deficiency
type: Class
subclass of: serine deficiency
creation date: 2012-06-13T03:09:31Z
definition: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
id: DOID:0050722
database_cross_reference: OMIM:601815
has_exact_synonym: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed?term=18296366
database_cross_reference: url:http://www.omim.org/entry/601815
annotated source: PHGDH deficiency
annotated property: definition

PSAT deficiency
type: Class
subclass of: serine deficiency
creation date: 2012-06-13T03:09:31Z
definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
id: DOID:0050723
database_cross_reference: OMIM:610992
has_exact_synonym: Phosphoserine aminotransferase deficiency
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/
database_cross_reference: url:http://www.omim.org/entry/610992?search=610992&highlight=610992
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417
annotated source: PSAT deficiency
annotated property: definition

PSPH deficiency
type: Class
subclass of: serine deficiency
creation date: 2012-06-13T03:09:31Z
definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
id: DOID:0050724
database_cross_reference: OMIM:614023
has_exact_synonym: PSPHD
has_exact_synonym: Phosphoserine phosphatase deficiency
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
database_cross_reference: url:http://en.wikipedia.org/wiki/PSPH
database_cross_reference: url:http://www.omim.org/entry/614023
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350
annotated source: PSPH deficiency
annotated property: definition

tyrosinemia type II
type: Class
subclass of: DOID 37
subclass of: DOID 9275
creation date: 2012-06-13T03:09:31Z
definition: A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
id: DOID:0050725
database_cross_reference: OMIM:276600
has_exact_synonym: Oculocutaneous tyrosinemia
has_exact_synonym: Richner-Hanhart syndrome
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
database_cross_reference: url:http://en.wikipedia.org/wiki/Tyrosinemia_type_II
database_cross_reference: url:http://www.omim.org/entry/276600?search=276600&highlight=276600
annotated source: tyrosinemia type II
annotated property: definition

tyrosinemia type I
type: Class
subclass of: DOID 9275
creation date: 2012-07-06T02:55:45Z
definition: A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
id: DOID:0050726
database_cross_reference: OMIM:276700
has_obo_namespace: disease_ontology
has_exact_synonym: hepatorenal tyrosinemia
created by: lschriml

Axiom
annotated target: A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
database_cross_reference: url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia
annotated source: tyrosinemia type I
annotated property: definition

tyrosinemia type III
type: Class
subclass of: DOID 9275
creation date: 2012-07-06T02:55:45Z
definition: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
id: DOID:0050727
database_cross_reference: OMIM:276710
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia
annotated source: tyrosinemia type III
annotated property: definition

glycogen metabolism disorder
type: Class
subclass of: DOID 2978
creation date: 2012-07-13T10:42:54Z
definition: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
id: DOID:0050728
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
database_cross_reference: url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism
annotated source: glycogen metabolism disorder
annotated property: definition

neutral lipid storage disease
type: Class
subclass of: DOID 9455
creation date: 2012-07-17T12:31:48Z
definition: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
has_exact_synonym: Chanarin-Dorfman syndrome
id: DOID:0050729
database_cross_reference: OMIM:275630
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome
annotated source: neutral lipid storage disease
annotated property: definition

coenzyme Q10 deficiency disease
type: Class
subclass of: DOID 700
creation date: 2012-07-17T12:58:37Z
definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
has_exact_synonym: COENZYME Q10 DEFICIENCY, PRIMARY
id: DOID:0050730
database_cross_reference: OMIM:607426
database_cross_reference: OMIM:612016
database_cross_reference: OMIM:614650
database_cross_reference: OMIM:614651
database_cross_reference: OMIM:614652
database_cross_reference: OMIM:614654
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity
annotated source: coenzyme Q10 deficiency disease
annotated property: definition

vitamin B12 deficiency
type: Class
subclass of: vitamin metabolic disorder
creation date: 2012-07-17T01:01:29Z
definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
id: DOID:0050731
has_exact_synonym: cobalamin deficiency
has_obo_namespace: disease_ontology
has_exact_synonym: hypocobalaminemia
created by: lschriml

Axiom
annotated target: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
database_cross_reference: url:http://en.wikipedia.org/wiki/B12_deficiency
annotated source: vitamin B12 deficiency
annotated property: definition

methylmalonic aciduria and homocystinuria type cblE
type: Class
subclass of: DOID_14749
creation date: 2012-07-17T01:42:35Z
id: DOID:0050732
has_obo_namespace: disease_ontology
created by: lschriml

methylmalonic aciduria and homocystinuria type cblG
type: Class
subclass of: DOID_14749
creation date: 2012-07-17T01:42:35Z
id: DOID:0050733
has_obo_namespace: disease_ontology
created by: lschriml

congenital intrinsic factor deficiency
type: Class
subclass of: vitamin B12 deficiency
creation date: 2012-07-17T01:52:57Z
definition: A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
id: DOID:0050734
database_cross_reference: OMIM:261000
has_obo_namespace: disease_ontology
has_exact_synonym: hereditary intrinsic factor deficiency
created by: lschriml

Axiom
annotated target: A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
database_cross_reference: url:http://omim.org/entry/261000?search=261000&highlight=261000
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/14695536
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332
annotated source: congenital intrinsic factor deficiency
annotated property: definition

X-linked disease
type: Class
subclass of: monogenic disease
creation date: 2012-07-24T12:47:31Z
definition: A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
id: DOID:0050735
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
annotated source: X-linked disease
annotated property: definition

autosomal dominant disease
type: Class
subclass of: autosomal genetic disease
creation date: 2012-07-24T12:51:47Z
definition: An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
id: DOID:0050736
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=autosomaldominant
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm
annotated source: autosomal dominant disease
annotated property: definition

autosomal recessive disease
type: Class
subclass of: autosomal genetic disease
creation date: 2012-07-24T12:51:47Z
definition: An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
id: DOID:0050737
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm
annotated source: autosomal recessive disease
annotated property: definition

Y-linked disease
type: Class
subclass of: monogenic disease
creation date: 2012-07-24T12:51:47Z
definition: A monogenic disease that has_material_basis_in muations on the Y chromosome.
id: DOID:0050738
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A monogenic disease that has_material_basis_in muations on the Y chromosome.
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked
annotated source: Y-linked disease
annotated property: definition

autosomal genetic disease
type: Class
subclass of: monogenic disease
creation date: 2012-07-24T04:45:53Z
definition: A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
id: DOID:0050739
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=autosomaldominant
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
annotated source: autosomal genetic disease
annotated property: definition

Qazi Markouizos syndrome
type: Class
subclass of: DOID 225
creation date: 2012-08-10T01:08:47Z
definition: A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
id: DOID:0050740
has_exact_synonym: Dysharmonic skeletal maturation - muscular fibre disproportion
database_cross_reference: OMIM:600096
has_exact_synonym: Qazi-Markouizos syndrome
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
database_cross_reference: url:http://omim.org/entry/600096
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010
annotated source: Qazi Markouizos syndrome
annotated property: definition

alcohol dependence
type: Class
subclass of: DOID 9973
creation date: 2012-09-05T11:48:42Z
id: DOID:0050741
database_cross_reference: EFO:0003829
database_cross_reference: KEGG:05034
database_cross_reference: MSH:D010610
database_cross_reference: NCI:C3325
database_cross_reference: OMIM:103780
database_cross_reference: SNOMEDCT_US_2015_03_01:126685009
database_cross_reference: SNOMEDCT_US_2015_03_01:95001001
database_cross_reference: UMLS_CUI:C0031347
has_exact_synonym: alcoholism
has_obo_namespace: disease_ontology
created by: lschriml

nicotine dependence
type: Class
subclass of: DOID 9973
creation date: 2012-09-05T11:48:42Z
id: DOID:0050742
database_cross_reference: EFO:0003768
database_cross_reference: ICD10CM:F17
database_cross_reference: ICD10CM:F17.2
database_cross_reference: ICD10CM:F17.20
database_cross_reference: MSH:D014029
database_cross_reference: NCI:C54203
database_cross_reference: OMIM:188890
database_cross_reference: SNOMEDCT_US_2015_03_01:56294008
database_cross_reference: UMLS_CUI:C0028043
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: tobacco use disorder

Axiom
database_cross_reference: NSH:D014029
annotated target: tobacco use disorder
annotated source: nicotine dependence
annotated property: has_exact_synonym

mature T-cell and NK-cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
creation date: 2012-09-18T01:56:52Z
definition: A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
id: DOID:0050743
has_exact_synonym: NK-T cell lymphoma
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: mature T-cell and natural killer cell lymphoma
in_subset: DO cancer slim

Axiom
annotated target: A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=393800
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=44062
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21919697
annotated source: mature T-cell and NK-cell lymphoma
annotated property: definition

anaplastic large cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
creation date: 2012-09-18T01:57:40Z
definition: A non-Hodgkin lymphoma involving aberrant T-cells.
id: DOID:0050744
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A non-Hodgkin lymphoma involving aberrant T-cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology
annotated source: anaplastic large cell lymphoma
annotated property: definition

diffuse large B-cell lymphoma
type: Class
subclass of: DOID 707
creation date: 2012-09-18T01:58:25Z
definition: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
id: DOID:0050745
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma
annotated source: diffuse large B-cell lymphoma
annotated property: definition

mantle cell lymphoma
type: Class
subclass of: DOID 707
creation date: 2012-09-18T02:00:45Z
definition: A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
id: DOID:0050746
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma
annotated source: mantle cell lymphoma
annotated property: definition

lymphoplasmacytic lymphoma
type: Class
subclass of: DOID 707
creation date: 2012-09-18T02:00:45Z
definition: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
id: DOID:0050747
database_cross_reference: ICD10CM:C88.0
database_cross_reference: ICD9CM:273.3
database_cross_reference: MSH:D008258
database_cross_reference: NCI:C80307
database_cross_reference: OMIM:153600
database_cross_reference: OMIM:610430
database_cross_reference: ORDO:33226
database_cross_reference: SNOMEDCT_US_2015_03_01:109981009
database_cross_reference: SNOMEDCT_US_2015_03_01:154750002
database_cross_reference: SNOMEDCT_US_2015_03_01:190014001
database_cross_reference: SNOMEDCT_US_2015_03_01:190817009
database_cross_reference: SNOMEDCT_US_2015_03_01:190818004
database_cross_reference: SNOMEDCT_US_2015_03_01:190821002
database_cross_reference: SNOMEDCT_US_2015_03_01:267503004
database_cross_reference: SNOMEDCT_US_2015_03_01:35562000
database_cross_reference: UMLS_CUI:C0024419
database_cross_reference: UMLS_CUI:C2936755
has_exact_synonym: Waldenström's macroglobulinemia
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma
annotated source: lymphoplasmacytic lymphoma
annotated property: definition

marginal zone B-cell lymphoma
type: Class
subclass of: DOID 707
creation date: 2012-09-18T02:00:45Z
definition: A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
id: DOID:0050748
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: marginal zone lymphoma
in_subset: DO cancer slim

Axiom
annotated target: A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=562554
annotated source: marginal zone B-cell lymphoma
annotated property: definition

peripheral T-cell lymphoma
type: Class
subclass of: mature T-cell and NK-cell lymphoma
creation date: 2012-09-18T02:01:49Z
definition: A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
id: DOID:0050749
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma
annotated source: peripheral T-cell lymphoma
annotated property: definition

splenic marginal zone lymphoma
type: Class
subclass of: marginal zone B-cell lymphoma
creation date: 2012-09-18T02:03:06Z
definition: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
id: DOID:0050750
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
database_cross_reference: url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma
annotated source: splenic marginal zone lymphoma
annotated property: definition

T-cell large granular lymphocyte leukemia
type: Class
subclass of: chronic lymphocytic leukemia
creation date: 2012-09-18T02:05:41Z
definition: A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
id: DOID:0050751
has_exact_synonym: Large granular lymphocytic leukemia
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
database_cross_reference: url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia
annotated source: T-cell large granular lymphocyte leukemia
annotated property: definition

amyotrophic lateral sclerosis type 8
type: Class
subclass of: DOID 332
definition: A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
has_exact_synonym: ALS8
id: DOID:0050752
database_cross_reference: OMIM:608627
has_exact_synonym: amyotrophic lateral sclerosis 8
has_obo_namespace: disease_ontology

Axiom
annotated target: ALS8
database_cross_reference: OMIM:608627
annotated source: amyotrophic lateral sclerosis type 8
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:608627
annotated target: amyotrophic lateral sclerosis 8
annotated source: amyotrophic lateral sclerosis type 8
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
database_cross_reference: url:http://omim.org/entry/608627
database_cross_reference: utl:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
annotated source: amyotrophic lateral sclerosis type 8
annotated property: definition

cerebellar ataxia
type: Class
subclass of: DOID 2786
creation date: 2013-01-16T01:07:02Z
definition: A cerebellar disease characterized by ataxia originating in the cerebellum.
id: DOID:0050753
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A cerebellar disease characterized by ataxia originating in the cerebellum.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebellar_ataxia
annotated source: cerebellar ataxia
annotated property: definition

ataxia with oculomotor apraxia type 1
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2013-01-16T01:07:02Z
id: DOID:0050754
database_cross_reference: OMIM:208920
has_obo_namespace: disease_ontology
created by: lschriml

ataxia with oculomotor apraxia type 2
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2013-01-16T01:07:02Z
id: DOID:0050755
has_obo_namespace: disease_ontology
created by: lschriml

Batten disease
type: Class
subclass of: DOID_14503
creation date: 2013-01-16T01:15:03Z
id: DOID:0050756
has_obo_namespace: disease_ontology
has_exact_synonym: juvenile neuronal ceroid lipofuscinosis
created by: lschriml

deafness dystonia syndrome
type: Class
subclass of: DOID 700
creation date: 2013-01-16T01:20:50Z
definition: A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
id: DOID:0050757
has_exact_synonym: Deafness Dystonia Optic Atrophy Syndrome
has_exact_synonym: Deafness Dystonia Optic Neuronopathy Syndrome (DDON)
has_exact_synonym: Dystonia Deafness Syndrome
has_exact_synonym: Mohr-Tranebjaerg Syndrome
database_cross_reference: OMIM:304700
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome
database_cross_reference: url:http://omim.org/entry/304700
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1216/
annotated source: deafness dystonia syndrome
annotated property: definition

metabolic acidosis
type: Class
subclass of: DOID 3650
creation date: 2013-01-16T01:23:37Z
definition: A lactic acidosis that has_material_basis_in high levels of acid.
id: DOID:0050758
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A lactic acidosis that has_material_basis_in high levels of acid.
database_cross_reference: url:http://en.wikipedia.org/wiki/Metabolic_acidosis
annotated source: metabolic acidosis
annotated property: definition

myotonic dystrophy type 2
type: Class
subclass of: DOID 450
creation date: 2013-01-16T01:27:31Z
definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
id: DOID:0050759
database_cross_reference: ICD10CM:G71.1
database_cross_reference: ICD10CM:G71.19
database_cross_reference: ICD9CM:359.2
database_cross_reference: MSH:C538616
database_cross_reference: MSH:D020967
database_cross_reference: NCI:C84913
database_cross_reference: OMIM:602668
database_cross_reference: SNOMEDCT_US_2015_03_01:155096007
database_cross_reference: SNOMEDCT_US_2015_03_01:193237003
database_cross_reference: SNOMEDCT_US_2015_03_01:193240003
database_cross_reference: SNOMEDCT_US_2015_03_01:267713009
database_cross_reference: SNOMEDCT_US_2015_03_01:41574007
database_cross_reference: UMLS_CUI:C0221055
database_cross_reference: UMLS_CUI:C0553604
database_cross_reference: UMLS_CUI:C0752355
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: proximal myotonic myopathy

Axiom
annotated target: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
database_cross_reference: url:http://omim.org/entry/602668
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1466/
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple
annotated source: myotonic dystrophy type 2
annotated property: definition

X-linked myopathy with excessive autophagy
type: Class
subclass of: DOID 423
creation date: 2013-01-16T01:29:01Z
id: DOID:0050760
has_exact_synonym: XMEA
has_obo_namespace: disease_ontology
created by: lschriml

paramyloidosis
type: Class
subclass of: DOID 9120
creation date: 2013-01-16T01:30:21Z
id: DOID:0050761
has_obo_namespace: disease_ontology
created by: lschriml

adenylosuccinase lyase deficiency
type: Class
subclass of: DOID 9252
creation date: 2013-01-17T12:42:58Z
id: DOID:0050762
has_obo_namespace: disease_ontology
created by: lschriml

ARC syndrome
type: Class
subclass of: DOID 225
creation date: 2013-01-17T12:46:38Z
definition: A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3..
has_exact_synonym: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
has_exact_synonym: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
has_exact_synonym: Arthrogryposis-renal dysfunction-cholestasis
id: DOID:0050763
database_cross_reference: OMIM:208085
database_cross_reference: OMIM:613404
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3..
database_cross_reference: url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome
database_cross_reference: url:http://omim.org/entry/208085
database_cross_reference: url:http://omim.org/entry/613404
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16896922
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22753090
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/24415890
database_cross_reference: url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697
annotated source: ARC syndrome
annotated property: definition

Armfield syndrome
type: Class
subclass of: DOID 225
creation date: 2013-01-17T12:48:15Z
has_exact_synonym: Armfield X-linked mental retardation syndrome
id: DOID:0050764
has_exact_synonym: MRXSA
database_cross_reference: OMIM:300261
database_cross_reference: ORDO:85276
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: MRXSA
database_cross_reference: OMIM:300261
annotated source: Armfield syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Armfield X-linked mental retardation syndrome
database_cross_reference: OMIM:300261
annotated source: Armfield syndrome
annotated property: has_exact_synonym

neuroacanthocytosis
type: Class
subclass of: DOID 1289
creation date: 2013-01-17T12:54:19Z
id: DOID:0050765
has_obo_namespace: disease_ontology
created by: lschriml

chorea-acanthocytosis
type: Class
subclass of: neuroacanthocytosis
creation date: 2013-01-17T12:54:19Z
id: DOID:0050766
has_obo_namespace: disease_ontology
created by: lschriml

midface dysplasia
type: Class
subclass of: DOID 2256
creation date: 2013-02-21T11:19:14Z
id: DOID:0050767
has_obo_namespace: disease_ontology
created by: lschriml

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
type: Class
subclass of: DOID 700
creation date: 2013-02-21T11:26:46Z
definition: A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.
id: DOID:0050768
database_cross_reference: ICD10CM:E88.8
has_exact_synonym: MC5DN1
database_cross_reference: OMIM:604273
database_cross_reference: ORDO:254913
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.
database_cross_reference: url:http://omim.org/entry/604273
annotated source: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
annotated property: definition

N syndrome
type: Class
subclass of: DOID 225
creation date: 2013-02-21T11:32:26Z
id: DOID:0050769
has_exact_synonym: NSX
database_cross_reference: OMIM:310465
database_cross_reference: Orphanet:ORPHA2608
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: NSX
database_cross_reference: OMIM:310465
annotated source: N syndrome
annotated property: has_exact_synonym

polycystic liver disease
type: Class
subclass of: autosomal dominant disease
creation date: 2013-02-21T11:36:13Z
id: DOID:0050770
database_cross_reference: OMIM:174050
has_obo_namespace: disease_ontology
created by: lschriml

phaeochromocytoma
type: Class
subclass of: cell type benign neoplasm
creation date: 2013-02-21T11:40:58Z
id: DOID:0050771
database_cross_reference: OMIM:171300
has_obo_namespace: disease_ontology
created by: lschriml

spastic ataxia 1
type: Class
subclass of: spastic ataxia
creation date: 2015-09-17T14:42:06Z
id: DOID:0050772
database_cross_reference: OMIM:108600
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

paraganglioma
type: Class
subclass of: DOID 169
creation date: 2013-02-21T11:51:57Z
id: DOID:0050773
database_cross_reference: MSH:D010235
database_cross_reference: NCI:C3308
database_cross_reference: OMIM:116310
database_cross_reference: OMIM:168000
database_cross_reference: OMIM:601650
database_cross_reference: OMIM:605373
database_cross_reference: OMIM:614165
database_cross_reference: SNOMEDCT_US_2015_03_01:127027008
database_cross_reference: SNOMEDCT_US_2015_03_01:189743009
database_cross_reference: SNOMEDCT_US_2015_03_01:253029009
database_cross_reference: SNOMEDCT_US_2015_03_01:302833002
database_cross_reference: SNOMEDCT_US_2015_03_01:72787006
database_cross_reference: SNOMEDCT_US_2015_03_01:803009
database_cross_reference: UMLS_CUI:C0030421
comment: Xref MGI.
has_exact_synonym: chemodectoma
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

rapadilino syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2013-02-21T11:56:15Z
id: DOID:0050774
database_cross_reference: OMIM:266280
has_obo_namespace: disease_ontology
created by: lschriml

schneckenbecken dysplasia
type: Class
subclass of: DOID 2256
creation date: 2013-02-21T12:00:39Z
id: DOID:0050775
database_cross_reference: OMIM:269250
has_obo_namespace: disease_ontology
created by: lschriml

non-syndromic X-linked intellectual disability
type: Class
subclass of: non-syndromic intellectual disability
creation date: 2013-02-21T12:06:40Z
definition: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
id: DOID:0050776
has_exact_synonym: MENTAL RETARDATION, X-LINKED 95
has_exact_synonym: MRX
database_cross_reference: OMIM:300046
database_cross_reference: OMIM:300047
database_cross_reference: OMIM:300062
database_cross_reference: OMIM:300114
database_cross_reference: OMIM:300115
database_cross_reference: OMIM:300143
database_cross_reference: OMIM:300210
database_cross_reference: OMIM:300271
database_cross_reference: OMIM:300324
database_cross_reference: OMIM:300355
database_cross_reference: OMIM:300372
database_cross_reference: OMIM:300387
database_cross_reference: OMIM:300428
database_cross_reference: OMIM:300433
database_cross_reference: OMIM:300436
database_cross_reference: OMIM:300454
database_cross_reference: OMIM:300498
database_cross_reference: OMIM:300504
database_cross_reference: OMIM:300505
database_cross_reference: OMIM:300518
database_cross_reference: OMIM:300551
database_cross_reference: OMIM:300558
database_cross_reference: OMIM:300577
database_cross_reference: OMIM:300659
database_cross_reference: OMIM:300716
database_cross_reference: OMIM:300802
database_cross_reference: OMIM:300803
database_cross_reference: OMIM:300844
database_cross_reference: OMIM:300848
database_cross_reference: OMIM:300849
database_cross_reference: OMIM:300850
database_cross_reference: OMIM:300851
database_cross_reference: OMIM:300852
database_cross_reference: OMIM:300912
database_cross_reference: OMIM:300919
database_cross_reference: OMIM:300923
database_cross_reference: OMIM:309530
database_cross_reference: OMIM:309549
database_cross_reference: ORDO:777
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: non-specific X-linked mental retardation
in_subset: DO MGI slim

Axiom
annotated target: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/7011032
annotated source: non-syndromic X-linked intellectual disability
annotated property: definition

Joubert syndrome
type: Class
subclass of: ciliopathy
creation date: 2013-04-04T11:25:32Z
definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
id: DOID:0050777
has_exact_synonym: JBTS
database_cross_reference: OMIM:213300
database_cross_reference: OMIM:300804
database_cross_reference: OMIM:608091
database_cross_reference: OMIM:608629
database_cross_reference: OMIM:609583
database_cross_reference: OMIM:610188
database_cross_reference: OMIM:610688
database_cross_reference: OMIM:611560
database_cross_reference: OMIM:612285
database_cross_reference: OMIM:612291
database_cross_reference: OMIM:614173
database_cross_reference: OMIM:614424
database_cross_reference: OMIM:614464
database_cross_reference: OMIM:614465
database_cross_reference: OMIM:614615
database_cross_reference: OMIM:614815
database_cross_reference: OMIM:614970
database_cross_reference: OMIM:615636
database_cross_reference: OMIM:615665
database_cross_reference: OMIM:616654
database_cross_reference: ORDO:475
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
database_cross_reference: url:http://en.wikipedia.org/wiki/Joubert_syndrome
database_cross_reference: url:http://omim.org/entry/213300?search=joubert&highlight=joubert
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple
annotated source: Joubert syndrome
annotated property: definition

Meckel syndrome
type: Class
subclass of: ciliopathy
creation date: 2013-04-04T11:28:16Z
definition: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
id: DOID:0050778
database_cross_reference: ICD9CM:753.1
database_cross_reference: ICD9CM:753.10
has_exact_synonym: Meckel-Gruber syndrome
database_cross_reference: OMIM:249000
database_cross_reference: OMIM:267010
database_cross_reference: OMIM:603194
database_cross_reference: OMIM:607361
database_cross_reference: OMIM:611134
database_cross_reference: OMIM:611561
database_cross_reference: OMIM:612284
database_cross_reference: OMIM:613885
database_cross_reference: OMIM:614175
database_cross_reference: OMIM:614209
database_cross_reference: OMIM:615397
database_cross_reference: ORDO:564
database_cross_reference: SNOMEDCT_US_2015_03_01:204954005
database_cross_reference: SNOMEDCT_US_2015_03_01:204966004
database_cross_reference: SNOMEDCT_US_2015_03_01:236440007
database_cross_reference: SNOMEDCT_US_2015_03_01:82525005
database_cross_reference: UMLS_CUI:C0311245
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
database_cross_reference: url:http://en.wikipedia.org/wiki/Meckel_syndrome
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract
annotated source: Meckel syndrome
annotated property: definition

hydrolethalus syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2013-06-24T12:50:06Z
definition: An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
id: DOID:0050779
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: OMIM:236680
database_cross_reference: OMIM:614120
database_cross_reference: ORDO:2189
has_exact_synonym: Salonen-Herva-Norio syndrome
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15843405
annotated source: hydrolethalus syndrome
annotated property: definition

Opitz-GBBB syndrome
type: Class
subclass of: monogenic disease
creation date: 2013-06-24T01:18:03Z
definition: A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
id: DOID:0050780
database_cross_reference: KEGG:H00583
database_cross_reference: OMIM:145410
database_cross_reference: OMIM:300000
has_exact_synonym: Opitz G/BBB Syndrome
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
database_cross_reference: url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1327/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1523/
annotated source: Opitz-GBBB syndrome
annotated property: definition

Ogden syndrome
type: Class
subclass of: X-linked disease
creation date: 2013-07-17T10:18:00Z
definition: An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.
id: DOID:0050781
has_exact_synonym: N-alpha-acetyltransferase
has_exact_synonym: N-terminal acetyltransferase deficiency
has_exact_synonym: OGDNS
database_cross_reference: OMIM:300013
database_cross_reference: OMIM:300855
has_exact_synonym: X-linked Malformation and Infantile Lethality Syndrome
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.
database_cross_reference: url:http://en.wikipedia.org/wiki/N-acetyltransferase
database_cross_reference: url:http://en.wikipedia.org/wiki/NatA_Acetyltransferase
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1
database_cross_reference: url:http://repository.cshl.edu/id/eprint/27483
database_cross_reference: url:http://www.nature.com/news/2011/110623/full/news.2011.382.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/8260
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21700266
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432
database_cross_reference: url:www.omim.org/entry/300855?search=300855
annotated source: Ogden syndrome
annotated property: definition

Zollinger-Ellison Syndrome
type: Class
subclass of: DOID 225
creation date: 2013-10-23T12:51:49Z
definition: A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
id: DOID:0050782
database_cross_reference: ICD10CM:E16.4
database_cross_reference: MSH:D015043
database_cross_reference: NCI:C3453
database_cross_reference: SNOMEDCT_US_2015_03_01:154694003
database_cross_reference: SNOMEDCT_US_2015_03_01:190443003
database_cross_reference: SNOMEDCT_US_2015_03_01:267477002
database_cross_reference: SNOMEDCT_US_2015_03_01:53132006
database_cross_reference: UMLS_CUI:C0043515
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
database_cross_reference: url:http://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/
database_cross_reference: url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract
annotated source: Zollinger-Ellison Syndrome
annotated property: definition

secondary progressive multiple sclerosis
type: Class
subclass of: DOID 2377
creation date: 2013-11-07T11:22:49Z
definition: A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
id: DOID:0050783
database_cross_reference: MSH:D020528
database_cross_reference: SNOMEDCT_US_2015_03_01:425500002
has_exact_synonym: SPMS
has_exact_synonym: Secondary-progressive MS
database_cross_reference: UMLS_CUI:C0751965
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
database_cross_reference: url:http://www.mayoclinic.org/multiple-sclerosis/types.html
database_cross_reference: url:http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms
annotated source: secondary progressive multiple sclerosis
annotated property: definition

primary progressive multiple sclerosis
type: Class
subclass of: DOID 2377
creation date: 2013-11-07T11:26:58Z
definition: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
id: DOID:0050784
database_cross_reference: MSH:D020528
has_exact_synonym: PPMS
has_exact_synonym: Primary-progressive MS
database_cross_reference: SNOMEDCT_US_2015_03_01:428700003
database_cross_reference: UMLS_CUI:C0751964
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
database_cross_reference: url:http://www.mayoclinic.org/multiple-sclerosis/types.html
database_cross_reference: url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx
annotated source: primary progressive multiple sclerosis
annotated property: definition

progressive relapsing multiple sclerosis
type: Class
subclass of: DOID 2377
creation date: 2013-11-07T11:32:37Z
definition: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
id: DOID:0050785
database_cross_reference: MSH:D020528
has_exact_synonym: PRMS
has_exact_synonym: Progressive-relapsing MS
database_cross_reference: SNOMEDCT_US_2015_03_01:230374002
database_cross_reference: UMLS_CUI:C0393666
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
database_cross_reference: url:http://www.mayoclinic.org/multiple-sclerosis/types.html
database_cross_reference: url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx
annotated source: progressive relapsing multiple sclerosis
annotated property: definition

iridogoniodysgenesis syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2013-11-12T10:28:51Z
definition: An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
id: DOID:0050786
has_exact_synonym: IGDS
has_exact_synonym: IRID 1
has_exact_synonym: IRID 2
database_cross_reference: OMIM:137600
database_cross_reference: OMIM:601631
database_cross_reference: ORDO:98634
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: iridogoniodysgenesis type 1
has_exact_synonym: iridogoniodysgenesis type 2
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
database_cross_reference: url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/3026/disease/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19175065
annotated source: iridogoniodysgenesis syndrome
annotated property: definition

juvenile polyposis syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2013-11-12T11:25:28Z
definition: An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
id: DOID:0050787
database_cross_reference: OMIM:174900
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome
database_cross_reference: url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1469/
annotated source: juvenile polyposis syndrome
annotated property: definition

proximal symphalangism
type: Class
subclass of: autosomal dominant disease
creation date: 2013-11-12T11:43:22Z
definition: An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
has_exact_synonym: Cushing's symphalangism
id: DOID:0050788
database_cross_reference: KEGG:H00484
database_cross_reference: OMIM:185800
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
database_cross_reference: url:http://omim.org/entry/185800?search=185800&highlight=185800
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250
annotated source: proximal symphalangism
annotated property: definition

tarsal-carpal coalition syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2013-11-12T11:50:00Z
definition: An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
id: DOID:0050789
database_cross_reference: OMIM:186570
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome
database_cross_reference: url:http://omim.org/entry/186570?search=186570&highlight=186570
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22326510
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412
annotated source: tarsal-carpal coalition syndrome
annotated property: definition

fibular hypoplasia and complex brachydactyly
type: Class
subclass of: autosomal recessive disease
creation date: 2013-11-12T12:21:56Z
definition: An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
id: DOID:0050790
has_exact_synonym: Du Pan syndrome
database_cross_reference: KEGG:H00467
database_cross_reference: OMIM:228900
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
database_cross_reference: url:http://omim.org/entry/228900?search=228900&highlight=228900
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16222676
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple
annotated source: fibular hypoplasia and complex brachydactyly
annotated property: definition

persistent mullerian duct syndrome
type: Class
subclass of: DOID 3765
creation date: 2013-11-12T12:26:49Z
definition: A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
id: DOID:0050791
database_cross_reference: MSH:C536665
database_cross_reference: OMIM:261550
database_cross_reference: SNOMEDCT_US_2015_03_01:702358005
database_cross_reference: UMLS_CUI:C1849930
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome
database_cross_reference: url:http://omim.org/entry/261550?search=261550&highlight=261550
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20352001
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
annotated source: persistent mullerian duct syndrome
annotated property: definition

multiple cutaneous and mucosal venous malformations
type: Class
subclass of: autosomal dominant disease
creation date: 2013-11-12T12:38:33Z
definition: An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
id: DOID:0050792
database_cross_reference: OMIM:600195
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations
database_cross_reference: url:http://omim.org/entry/600195?search=600195&highlight=600195
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20301733
annotated source: multiple cutaneous and mucosal venous malformations
annotated property: definition

short QT syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2013-11-12T12:59:42Z
definition: An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
id: DOID:0050793
database_cross_reference: OMIM:609620
database_cross_reference: OMIM:609621
database_cross_reference: OMIM:609622
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
database_cross_reference: url:http://en.wikipedia.org/wiki/Short_QT_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/short-qt-syndrome
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083
annotated source: short QT syndrome
annotated property: definition

multiple synostoses syndrome
type: Class
subclass of: DOID 1934
creation date: 2013-11-12T01:08:42Z
definition: A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
id: DOID:0050794
database_cross_reference: OMIM:186500
database_cross_reference: OMIM:610017
database_cross_reference: OMIM:612961
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/3836/disease/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237
annotated source: multiple synostoses syndrome
annotated property: definition

cone dystrophy
type: Class
subclass of: DOID 5679
creation date: 2013-11-12T01:19:22Z
definition: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
id: DOID:0050795
database_cross_reference: OMIM:180020
database_cross_reference: OMIM:610024
database_cross_reference: OMIM:610356
database_cross_reference: OMIM:610478
database_cross_reference: OMIM:613093
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: retinal cone dystrophy
in_subset: DO MGI slim

Axiom
annotated target: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cone_dystrophy
database_cross_reference: url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1418/
annotated source: cone dystrophy
annotated property: definition

achalasia microcephaly syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2013-11-20T03:01:06Z
has_exact_synonym: ACHALASIA-MICROCEPHALY SYNDROME
has_exact_synonym: Achalasia microcephaly
definition: An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
id: DOID:0050796
database_cross_reference: MSH:C536010
database_cross_reference: OMIM:200450
database_cross_reference: UMLS_CUI:C1860212
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
database_cross_reference: url:http://omim.org/entry/200450
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/456/disease/resources/1
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN
annotated source: achalasia microcephaly syndrome
annotated property: definition

peroxisomal acyl-CoA oxidase deficiency
type: Class
subclass of: DOID 906
creation date: 2013-11-21T10:47:41Z
definition: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
id: DOID:0050797
database_cross_reference: MSH:C536662
database_cross_reference: OMIM:264470
has_exact_synonym: Peroxisomal acyl-coenzyme A oxidase
database_cross_reference: UMLS_CUI:C1849678
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11815777
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17458872
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/18536048
database_cross_reference: url:http://www.omim.org/entry/264470
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971
annotated source: peroxisomal acyl-CoA oxidase deficiency
annotated property: definition

cerebral creatine deficiency syndrome
type: Class
subclass of: DOID 9252
creation date: 2013-11-21T12:10:58Z
id: DOID:0050798
has_obo_namespace: disease_ontology
created by: lschriml

guanidinoacetate methyltransferase deficiency
type: Class
subclass of: cerebral creatine deficiency syndrome
creation date: 2013-11-21T12:10:58Z
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
id: DOID:0050799
has_exact_synonym: GAMT deficiency
database_cross_reference: OMIM:612736
has_obo_namespace: disease_ontology
created by: lschriml

creatine transporter deficiency
type: Class
subclass of: cerebral creatine deficiency syndrome
creation date: 2013-11-21T12:10:58Z
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
id: DOID:0050800
database_cross_reference: OMIM:300352
has_exact_synonym: SLC6A8 deficiency
has_obo_namespace: disease_ontology
created by: lschriml

androgenic alopecia
type: Class
subclass of: DOID 987
creation date: 2013-11-21T12:48:07Z
id: DOID:0050801
database_cross_reference: OMIM:109200
database_cross_reference: OMIM:300710
database_cross_reference: OMIM:612421
has_exact_synonym: alopecia androgenetica, male pattern baldness
has_exact_synonym: androgenetic alopecia
has_obo_namespace: disease_ontology
created by: lschriml

Ehlers-Danlos syndrome progeroid type
type: Class
subclass of: DOID_13359
creation date: 2013-12-02T11:55:24Z
definition: An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
id: DOID:0050802
has_exact_synonym: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
database_cross_reference: ICD10CM:Q79.6
database_cross_reference: MSH:C536201
database_cross_reference: OMIM:130070
database_cross_reference: OMIM:615349
database_cross_reference: ORDO:75496
database_cross_reference: UMLS_CUI:C1869122
has_related_synonym: XGPT deficiency
has_related_synonym: defective biosynthesis of proteodermatan sulfate
has_obo_namespace: disease_ontology
created by: lschriml
has_related_synonym: xylosylprotein 4-beta-galactosyltransferase deficiency
in_subset: DO MGI slim

Axiom
annotated target: An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm
database_cross_reference: url:http://www.omim.org/entry/615349?search=130070&highlight=130070
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type
annotated source: Ehlers-Danlos syndrome progeroid type
annotated property: definition

glioblastoma classical subtype
type: Class
subclass of: DOID 3068
creation date: 2013-12-02T12:40:57Z
definition: A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
id: DOID:0050803
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23029035
database_cross_reference: url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475
annotated source: glioblastoma classical subtype
annotated property: definition

glioblastoma proneural subtype
type: Class
subclass of: DOID 3068
creation date: 2013-12-02T12:40:57Z
definition: A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
id: DOID:0050804
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated source: glioblastoma proneural subtype
annotated property: definition

glioblastoma mesenchymal subtype
type: Class
subclass of: DOID 3068
creation date: 2013-12-02T12:40:57Z
definition: A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
id: DOID:0050805
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated source: glioblastoma mesenchymal subtype
annotated property: definition

glioblastoma neural subtype
type: Class
subclass of: DOID 3068
creation date: 2013-12-02T12:40:57Z
definition: A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
id: DOID:0050806
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated source: glioblastoma neural subtype
annotated property: definition

Kahrizi syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2013-12-02T02:28:58Z
definition: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
id: DOID:0050807
database_cross_reference: OMIM:612713
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972
annotated source: Kahrizi syndrome
annotated property: definition

mucopolysaccharidosis IV
type: Class
creation date: 2013-12-02T02:56:58Z
id: DOID:0050808
has_obo_namespace: disease_ontology
created by: lschriml
deprecated: true

mucopolysaccharidosis IX
type: Class
subclass of: DOID_12798
creation date: 2013-12-02T02:56:58Z
definition: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
id: DOID:0050809
database_cross_reference: OMIM:601492
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII
annotated source: mucopolysaccharidosis IX
annotated property: definition

biotin deficiency
type: Class
subclass of: DOID 5113
creation date: 2013-12-02T03:46:44Z
definition: A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
has_exact_synonym: B7 deficiency
id: DOID:0050810
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Biotin_deficiency
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html
annotated source: biotin deficiency
annotated property: definition

congenital adrenal hyperplasia
type: Class
subclass of: DOID 1701
creation date: 2013-12-04T12:52:02Z
definition: A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
id: DOID:0050811
database_cross_reference: ICD10CM:E25
database_cross_reference: ICD10CM:E25.9
database_cross_reference: ICD9CM:255.2
database_cross_reference: OMIM:201710
database_cross_reference: OMIM:201810
database_cross_reference: OMIM:201910
database_cross_reference: OMIM:202010
database_cross_reference: OMIM:202110
database_cross_reference: ORDO:418
database_cross_reference: SNOMEDCT_US_2015_03_01:154706003
database_cross_reference: SNOMEDCT_US_2015_03_01:190510000
database_cross_reference: SNOMEDCT_US_2015_03_01:190519004
database_cross_reference: SNOMEDCT_US_2015_03_01:267395000
database_cross_reference: UMLS_CUI:C0701163
comment: Xref MGI.
has_exact_synonym: adrenal hyperplasia 1
has_exact_synonym: congenital lipoid adrenal hyperplasia
has_obo_namespace: disease_ontology
has_exact_synonym: lipoid CAH
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
database_cross_reference: url:http://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&
database_cross_reference: url:http://omim.org/entry/201710
database_cross_reference: url:http://www.genome.jp/dbget-bin/www_bget?ds:H00216
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0
annotated source: congenital adrenal hyperplasia
annotated property: definition

spondyloepimetaphyseal dysplasia, Pakistani type
type: Class
subclass of: spondyloepimetaphyseal dysplasia
creation date: 2013-12-04T01:24:55Z
definition: A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
id: DOID:0050812
database_cross_reference: OMIM:612847
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: spondyloepimetaphyseal dysplasia Pakistani type

Axiom
annotated target: A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
database_cross_reference: url:http://omim.org/entry/612847
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282
annotated source: spondyloepimetaphyseal dysplasia, Pakistani type
annotated property: definition

spondyloepiphyseal dysplasia with congenital joint dislocations
type: Class
subclass of: spondyloepimetaphyseal dysplasia
creation date: 2013-12-04T01:30:01Z
definition: A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
has_exact_synonym: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
has_exact_synonym: CHST3-Related Skeletal Dysplasia
id: DOID:0050813
has_exact_synonym: Humero-spinal dysostosis with congenital heart disease
has_exact_synonym: Humerospinal Dysostosis
has_exact_synonym: Humerospinal dysostosis
has_exact_synonym: Kozlowski Celermajer Tink syndrome
database_cross_reference: OMIM:143095
has_exact_synonym: Omani Type
has_exact_synonym: Spondyloepiphyseal Dysplasia
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
database_cross_reference: url:http://omim.org/entry/143095?search=143095&highlight=143095
database_cross_reference: url:http://www.informatics.jax.org/disease/143095
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/
database_cross_reference: url:http://www.uniprot.org/diseases/DI-01753
annotated source: spondyloepiphyseal dysplasia with congenital joint dislocations
annotated property: definition

temtamy preaxial brachydactyly syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2013-12-05T12:12:10Z
definition: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
id: DOID:0050814
database_cross_reference: OMIM:605282
has_exact_synonym: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21129728
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417
database_cross_reference: url:http://www.sciencedirect.com/science/article/pii/S1769721213002449
annotated source: temtamy preaxial brachydactyly syndrome
annotated property: definition

eye adnexa disease
type: Class
subclass of: DOID 1492
creation date: 2013-12-05T12:55:42Z
definition: An eye and adnexa disease that is located_in the adnexa of the eye.
id: DOID:0050815
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An eye and adnexa disease that is located_in the adnexa of the eye.
database_cross_reference: url:http://en.wikipedia.org/wiki/Accessory_visual_structures
annotated source: eye adnexa disease
annotated property: definition

urofacial syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2013-12-05T01:10:52Z
definition: An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
id: DOID:0050816
database_cross_reference: OMIM:236730
database_cross_reference: OMIM:615112
has_exact_synonym: Ochoa syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: hydronephrosis with peculiar facial expression
created by: lschriml

Axiom
annotated target: An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
database_cross_reference: url:http://en.wikipedia.org/wiki/Urofacial_syndrome
database_cross_reference: url:http://omim.org/entry/236730
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704
annotated source: urofacial syndrome
annotated property: definition

Stargardt disease
type: Class
subclass of: age related macular degeneration
creation date: 2013-12-11T01:49:54Z
definition: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
id: DOID:0050817
database_cross_reference: OMIM:248200
database_cross_reference: OMIM:600110
database_cross_reference: OMIM:603786
has_exact_synonym: STARGARDT DISEASE 1
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
database_cross_reference: url:http://en.wikipedia.org/wiki/Stargardt_disease
annotated source: Stargardt disease
annotated property: definition

transcobalamin II deficiency
type: Class
subclass of: vitamin B12 deficiency
creation date: 2013-12-11T02:48:06Z
definition: A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
id: DOID:0050818
database_cross_reference: OMIM:275350
has_exact_synonym: TCN2 deficiency
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
database_cross_reference: url:http://omim.org/entry/275350
database_cross_reference: url:https://www.orpha.net/data/patho/GB/uk-TCII.pdf
annotated source: transcobalamin II deficiency
annotated property: definition

Matthew-Wood syndrome
type: Class
subclass of: autosomal genetic disease
creation date: 2013-12-11T03:11:49Z
definition: An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
id: DOID:0050819
has_exact_synonym: MCOPS9
database_cross_reference: OMIM:601186
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: microphthalmia syndromic type 9

Axiom
annotated target: An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17236193
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470
annotated source: Matthew-Wood syndrome
annotated property: definition

atrioventricular block
type: Class
subclass of: heart conduction disease
creation date: 2014-02-12T01:35:05Z
definition: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
has_exact_synonym: AV block
id: DOID:0050820
database_cross_reference: ICD10CM:I44.3
database_cross_reference: ICD10CM:I44.30
database_cross_reference: ICD9CM:426.10
database_cross_reference: MSH:D054537
database_cross_reference: NCI:C26703
database_cross_reference: SNOMEDCT_US_2015_03_01:195040005
database_cross_reference: SNOMEDCT_US_2015_03_01:195043007
database_cross_reference: SNOMEDCT_US_2015_03_01:233917008
database_cross_reference: SNOMEDCT_US_2015_03_01:58547007
database_cross_reference: UMLS_CUI:C0004245
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrioventricular_block
annotated source: atrioventricular block
annotated property: definition

first-degree atrioventricular block
type: Class
subclass of: atrioventricular block
creation date: 2014-02-12T01:39:42Z
id: DOID:0050821
has_obo_namespace: disease_ontology
created by: lschriml

second-degree atrioventricular block
type: Class
subclass of: atrioventricular block
creation date: 2014-02-12T01:39:42Z
id: DOID:0050822
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: second-degree heart block

third-degree atrioventricular block
type: Class
subclass of: atrioventricular block
creation date: 2014-02-12T01:39:42Z
id: DOID:0050823
has_exact_synonym: complete AV block
has_obo_namespace: disease_ontology
created by: lschriml

sinoatrial node disease
type: Class
subclass of: heart conduction disease
subclass of: DOID 66
creation date: 2014-02-12T01:47:54Z
definition: A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
id: DOID:0050824
has_exact_synonym: SA node
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: sinuatrial node

Axiom
annotated target: A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sinoatrial_node
annotated source: sinoatrial node disease
annotated property: definition

endocardium disease
type: Class
subclass of: DOID 114
creation date: 2014-02-12T01:53:42Z
definition: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
id: DOID:0050825
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocardium
annotated source: endocardium disease
annotated property: definition

tricuspid valve disease
type: Class
subclass of: DOID 4079
creation date: 2014-02-12T02:55:24Z
id: DOID:0050826
has_alternative_id: DOID:13834
database_cross_reference: ICD10CM:I07
database_cross_reference: ICD10CM:I07.9
database_cross_reference: ICD9CM:397.0
has_exact_synonym: RH. tricuspid valve disease
has_exact_synonym: Rheumatic disease of tricuspid valve (disorder)
has_exact_synonym: Rheumatic tricuspid valve disease NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:155289000
database_cross_reference: SNOMEDCT_US_2015_03_01:194745002
database_cross_reference: SNOMEDCT_US_2015_03_01:266282000
database_cross_reference: SNOMEDCT_US_2015_03_01:49699002
has_exact_synonym: Tricuspid disease
database_cross_reference: UMLS_CUI:C0264776
has_exact_synonym: disease of tricuspid valve
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: rheumatic tricuspid valve disease

Axiom
database_cross_reference: MTHICD9_2006:397.0
annotated target: Tricuspid disease
annotated source: tricuspid valve disease
annotated property: has_exact_synonym

Axiom
annotated target: Rheumatic tricuspid valve disease NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:194745002
annotated source: tricuspid valve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:397.0
annotated target: disease of tricuspid valve
annotated source: tricuspid valve disease
annotated property: has_exact_synonym

Axiom
annotated target: Rheumatic disease of tricuspid valve (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:49699002
annotated source: tricuspid valve disease
annotated property: has_exact_synonym

Axiom
annotated target: RH. tricuspid valve disease
database_cross_reference: SNOMEDCT_2005_07_31:155289000
database_cross_reference: SNOMEDCT_2005_07_31:266282000
annotated source: tricuspid valve disease
annotated property: has_exact_synonym

rheumatic heart disease
type: Class
subclass of: DOID 4079
creation date: 2014-02-12T03:03:38Z
definition: A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
id: DOID:0050827
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
database_cross_reference: url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease
annotated source: rheumatic heart disease
annotated property: definition

artery disease
type: Class
subclass of: DOID 178
creation date: 2014-02-12T03:08:35Z
definition: A vascular disease that is located_in an artery.
id: DOID:0050828
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A vascular disease that is located_in an artery.
database_cross_reference: url:http://en.wikipedia.org/wiki/Artery#Pathology
annotated source: artery disease
annotated property: definition

pericardium disease
type: Class
subclass of: DOID 1287
creation date: 2014-02-18T12:20:15Z
definition: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
id: DOID:0050829
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pericardium
annotated source: pericardium disease
annotated property: definition

peripheral artery disease
type: Class
subclass of: artery disease
creation date: 2014-02-18T12:41:09Z
definition: An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
id: DOID:0050830
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm
database_cross_reference: url:https://www.nhlbi.nih.gov/health/health-topics/topics/pad/
annotated source: peripheral artery disease
annotated property: definition

familial encephalopathy with neuroserpin inclusion bodies
type: Class
subclass of: DOID 1289
creation date: 2014-02-24T10:14:57Z
definition: A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
id: DOID:0050831
has_exact_synonym: FENIB
database_cross_reference: OMIM:604218
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies
database_cross_reference: url:http://www.jbc.org/content/277/19/17367
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport
annotated source: familial encephalopathy with neuroserpin inclusion bodies
annotated property: definition

pyrimidine metabolic disorder
type: Class
subclass of: DOID 655
creation date: 2014-02-24T10:29:22Z
definition: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
id: DOID:0050832
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism
annotated source: pyrimidine metabolic disorder
annotated property: definition

orotic aciduria
type: Class
subclass of: pyrimidine metabolic disorder
creation date: 2014-02-24T10:29:22Z
definition: A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
id: DOID:0050833
database_cross_reference: OMIM:258900
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Orotic_aciduria
database_cross_reference: url:http://www.omim.org/entry/258900
annotated source: orotic aciduria
annotated property: definition

CHARGE syndrome
type: Class
subclass of: DOID 225
creation date: 2014-03-18T11:58:38Z
definition: A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
has_exact_synonym: CHARGE association
id: DOID:0050834
database_cross_reference: ICD10:Q89.8
database_cross_reference: MSH:D058747
database_cross_reference: NCI:C75100
database_cross_reference: OMIM:214800
database_cross_reference: ORDO:138
database_cross_reference: SNOMEDCT_US_2015_03_01:394529000
database_cross_reference: SNOMEDCT_US_2015_03_01:47535005
database_cross_reference: UMLS_CUI:C0265354
database_cross_reference: UMLS_CUI:C2936502
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
database_cross_reference: url:http://en.wikipedia.org/wiki/CHARGE_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/charge-syndrome
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract
annotated source: CHARGE syndrome
annotated property: definition

generalized dystonia
type: Class
subclass of: DOID 543
creation date: 2014-03-18T01:13:36Z
definition: A dystonia that affects most or all of the body.
id: DOID:0050835
has_alternative_id: DOID:11910
has_alternative_id: DOID:11911
has_alternative_id: DOID:11912
has_alternative_id: DOID:14164
has_alternative_id: DOID:5159
has_alternative_id: DOID:531
has_related_synonym: Dystonia 12
has_exact_synonym: Dystonia lenticularis (disorder)
has_exact_synonym: Dystonia, deformans progressiva
has_exact_synonym: Familiar Dystonia
has_exact_synonym: Familiar Idiopathic Dystonia
database_cross_reference: ICD10CM:G24.1
database_cross_reference: ICD10CM:G24.2
database_cross_reference: ICD9CM:333.6
database_cross_reference: ICD9CM:333.8
has_exact_synonym: Idiopathic Torsion Dystonia
has_exact_synonym: Idiopathic familial dystonia
has_exact_synonym: Idiopathic familial dystonia (disorder)
has_exact_synonym: Idiopathic non-familial dystonia (disorder)
has_exact_synonym: Idiopathic torsion dystonia
has_exact_synonym: Idiopathic torsion dystonia (disorder)
comment: MSH:C538001 added from NeuroDevNet [WAK].
database_cross_reference: MSH:D004422
database_cross_reference: MSH:D020821
database_cross_reference: NCI:C34564
database_cross_reference: NCI:C35437
database_cross_reference: NCI:C35438
database_cross_reference: NCI:C35527
has_exact_synonym: Non-familiar Idiopathic Dystonia
database_cross_reference: OMIM:128100
database_cross_reference: SNOMEDCT_US_2015_03_01:155008004
database_cross_reference: SNOMEDCT_US_2015_03_01:192852006
database_cross_reference: SNOMEDCT_US_2015_03_01:192853001
database_cross_reference: SNOMEDCT_US_2015_03_01:192858005
database_cross_reference: SNOMEDCT_US_2015_03_01:192859002
database_cross_reference: SNOMEDCT_US_2015_03_01:192862004
database_cross_reference: SNOMEDCT_US_2015_03_01:22451001
database_cross_reference: SNOMEDCT_US_2015_03_01:230318005
database_cross_reference: SNOMEDCT_US_2015_03_01:230321007
database_cross_reference: SNOMEDCT_US_2015_03_01:267584007
database_cross_reference: SNOMEDCT_US_2015_03_01:431034009
database_cross_reference: SNOMEDCT_US_2015_03_01:55776008
database_cross_reference: SNOMEDCT_US_2015_03_01:57937000
has_exact_synonym: Symptomatic torsion dystonia (disorder)
has_exact_synonym: Symptomatic torsion dystonia NOS (disorder)
database_cross_reference: UMLS_CUI:C0013423
database_cross_reference: UMLS_CUI:C0154674
database_cross_reference: UMLS_CUI:C0154675
database_cross_reference: UMLS_CUI:C0393598
database_cross_reference: UMLS_CUI:C0393601
database_cross_reference: UMLS_CUI:C0752207
has_obo_namespace: disease_ontology
has_exact_synonym: dystonia deformans progressiva
has_exact_synonym: dystonia musculorum deformans
has_exact_synonym: familial dystonia
has_exact_synonym: fragments of torsion dystonia
has_exact_synonym: idiopathic familial dystonia
has_exact_synonym: idiopathic non-familial dystonia
created by: lschriml
has_exact_synonym: symptomatic torsion dystonia

Axiom
annotated target: Idiopathic familial dystonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:230318005
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2057-3370
annotated target: dystonia deformans progressiva
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Dystonia, deformans progressiva
database_cross_reference: MTHICD9_2006:333.6
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C35438
annotated target: Non-familiar Idiopathic Dystonia
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Dystonia 12
database_cross_reference: MSH:C538001
annotated source: generalized dystonia
annotated property: has_related_synonym

Axiom
annotated target: Familiar Dystonia
database_cross_reference: NCI2004_11_17:C35527
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:55776008
annotated target: Symptomatic torsion dystonia (disorder)
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Idiopathic torsion dystonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:22451001
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Idiopathic non-familial dystonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:230321007
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Idiopathic Torsion Dystonia
database_cross_reference: NCI2004_11_17:C34564
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:333.6
annotated target: Idiopathic torsion dystonia
database_cross_reference: SNOMEDCT_2005_07_31:155008004
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:192858005
annotated target: Symptomatic torsion dystonia NOS (disorder)
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Idiopathic familial dystonia
database_cross_reference: SNOMEDCT_2005_07_31:192852006
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Dystonia lenticularis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:52274002
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: Familiar Idiopathic Dystonia
database_cross_reference: NCI2004_11_17:C35437
annotated source: generalized dystonia
annotated property: has_exact_synonym

Axiom
annotated target: A dystonia that affects most or all of the body.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated source: generalized dystonia
annotated property: definition

focal dystonia
type: Class
subclass of: DOID 543
creation date: 2014-03-18T01:13:36Z
definition: A dystonia that is localized to a specific part of the body.
id: DOID:0050836
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A dystonia that is localized to a specific part of the body.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated source: focal dystonia
annotated property: definition

multifocal dystonia
type: Class
subclass of: DOID 543
creation date: 2014-03-18T01:13:36Z
definition: A dystonia that involves two or more unrelated body parts.
id: DOID:0050837
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A dystonia that involves two or more unrelated body parts.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated source: multifocal dystonia
annotated property: definition

segmental dystonia
type: Class
subclass of: DOID 543
creation date: 2014-03-18T01:13:36Z
definition: A dystonia that affects two or more adjacent parts of the body.
id: DOID:0050838
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A dystonia that affects two or more adjacent parts of the body.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated source: segmental dystonia
annotated property: definition

anismus
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:30:33Z
id: DOID:0050839
has_obo_namespace: disease_ontology
created by: lschriml

cervical dystonia
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:30:33Z
definition: A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
id: DOID:0050840
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: spasmodic torticollis

Axiom
annotated target: A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
database_cross_reference: url:http://en.wikipedia.org/wiki/Spasmodic_torticollis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1155/
annotated source: cervical dystonia
annotated property: definition

focal hand dystonia
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:30:33Z
definition: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
id: DOID:0050841
has_alternative_id: DOID:13467
database_cross_reference: ICD9CM:333.84
database_cross_reference: MSH:D020821
database_cross_reference: SNOMEDCT_US_2015_03_01:155009007
database_cross_reference: SNOMEDCT_US_2015_03_01:267690000
database_cross_reference: SNOMEDCT_US_2015_03_01:52008007
database_cross_reference: SNOMEDCT_US_2015_03_01:79994003
database_cross_reference: UMLS_CUI:C0154676
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: organic writer's cramp

Axiom
annotated target: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dystonia
annotated source: focal hand dystonia
annotated property: definition

oculogyric crisis
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:30:33Z
definition: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
id: DOID:0050842
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Oculogyric_crisis
annotated source: oculogyric crisis
annotated property: definition

oromandibular dystonia
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:30:33Z
definition: A focal dystonia that is characterized by distortions of the mouth and tongue.
id: DOID:0050843
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A focal dystonia that is characterized by distortions of the mouth and tongue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Oromandibular_dystonia
annotated source: oromandibular dystonia
annotated property: definition

spasmodic dystonia
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:30:33Z
definition: A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
id: DOID:0050844
has_obo_namespace: disease_ontology
has_exact_synonym: laryngeal dystonia
created by: lschriml

Axiom
annotated target: A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
database_cross_reference: url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx
annotated source: spasmodic dystonia
annotated property: definition

cranio-facial dystonia
type: Class
subclass of: focal dystonia
creation date: 2014-03-18T01:33:33Z
definition: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
id: DOID:0050845
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated source: cranio-facial dystonia
annotated property: definition

hemidystonia
type: Class
subclass of: multifocal dystonia
creation date: 2014-03-18T01:39:30Z
definition: A multifocal dystonia that involves the arm and leg on the same side of the body.
id: DOID:0050846
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A multifocal dystonia that involves the arm and leg on the same side of the body.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated source: hemidystonia
annotated property: definition

sleep apnea
type: Class
subclass of: DOID 535
creation date: 2014-03-20T03:57:22Z
definition: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
id: DOID:0050847
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/
annotated source: sleep apnea
annotated property: definition

obstructive sleep apnea
type: Class
subclass of: sleep apnea
creation date: 2014-03-20T03:57:22Z
definition: A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
id: DOID:0050848
database_cross_reference: ICD10CM:G47.3
database_cross_reference: ICD10CM:G47.30
database_cross_reference: ICD9CM:780.57
database_cross_reference: MSH:D012891
database_cross_reference: NCI:C26884
database_cross_reference: OMIM:107650
database_cross_reference: SNOMEDCT_US_2015_03_01:155614007
database_cross_reference: SNOMEDCT_US_2015_03_01:194441007
database_cross_reference: SNOMEDCT_US_2015_03_01:196166002
database_cross_reference: SNOMEDCT_US_2015_03_01:206750008
database_cross_reference: SNOMEDCT_US_2015_03_01:230493001
database_cross_reference: SNOMEDCT_US_2015_03_01:313246000
database_cross_reference: SNOMEDCT_US_2015_03_01:73430006
database_cross_reference: UMLS_CUI:C0020529
database_cross_reference: UMLS_CUI:C0037315
database_cross_reference: UMLS_CUI:C0338495
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: obstructive sleep apnea syndrome
in_subset: DO MGI slim

Axiom
annotated target: A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
database_cross_reference: url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1
annotated source: obstructive sleep apnea
annotated property: definition

periampullary adenoma
type: Class
subclass of: ampulla of vater neoplasm
creation date: 2014-04-15T03:26:13Z
id: DOID:0050849
has_obo_namespace: disease_ontology
created by: lschriml

diabetic encephalopathy
type: Class
subclass of: DOID 936
creation date: 2014-04-15T03:33:49Z
id: DOID:0050850
has_obo_namespace: disease_ontology
created by: lschriml

glomerulosclerosis
type: Class
subclass of: DOID 2921
creation date: 2014-04-15T03:40:31Z
definition: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
id: DOID:0050851
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
database_cross_reference: url:http://en.wikipedia.org/wiki/Glomerulosclerosis
annotated source: glomerulosclerosis
annotated property: definition

limb ischemia
type: Class
subclass of: DOID 326
creation date: 2014-04-15T03:46:27Z
id: DOID:0050852
has_obo_namespace: disease_ontology
created by: lschriml

chronic venous insufficiency
type: Class
subclass of: venous insufficiency
creation date: 2014-04-15T03:50:26Z
id: DOID:0050853
has_obo_namespace: disease_ontology
created by: lschriml

Muckle-Wells syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2014-04-15T03:53:41Z
id: DOID:0050854
has_obo_namespace: disease_ontology
created by: lschriml

renal fibrosis
type: Class
subclass of: DOID 557
creation date: 2014-04-15T03:56:58Z
id: DOID:0050855
has_obo_namespace: disease_ontology
created by: lschriml

oppositional defiant disorder
type: Class
subclass of: specific developmental disorder
creation date: 2014-04-15T04:03:08Z
id: DOID:0050856
has_obo_namespace: disease_ontology
created by: lschriml

Perrault syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2014-04-24T01:56:35Z
definition: An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.
id: DOID:0050857
database_cross_reference: OMIM:233400
database_cross_reference: OMIM:614129
database_cross_reference: OMIM:614926
database_cross_reference: OMIM:615300
database_cross_reference: Orphanet:ORPHA2855
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/LARS2
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23541340
annotated source: Perrault syndrome
annotated property: definition

Marshall-Smith syndrome
type: Class
subclass of: DOID 225
creation date: 2014-04-24T02:06:30Z
definition: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
id: DOID:0050858
database_cross_reference: OMIM:602535
database_cross_reference: Orphanet:ORPHA561
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
database_cross_reference: url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1
annotated source: Marshall-Smith syndrome
annotated property: definition

hemorrhagic cystitis
type: Class
subclass of: DOID 1679
creation date: 2014-04-29T01:31:08Z
id: DOID:0050859
has_obo_namespace: disease_ontology
created by: lschriml

colorectal adenoma
type: Class
subclass of: DOID 4610
creation date: 2014-05-05T03:14:49Z
id: DOID:0050860
has_obo_namespace: disease_ontology
created by: lschriml

colorectal adenocarcinoma
type: Class
subclass of: DOID 9256
creation date: 2014-05-05T03:16:55Z
definition: A colorectal cancer that derives_from epithelial cells of glandular origin.
id: DOID:0050861
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A colorectal cancer that derives_from epithelial cells of glandular origin.
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma
annotated source: colorectal adenocarcinoma
annotated property: definition

pyometritis
type: Class
subclass of: DOID 345
creation date: 2014-05-05T03:25:57Z
id: DOID:0050862
has_obo_namespace: disease_ontology
created by: lschriml

arteritic anterior ischemic optic neuropathy
type: Class
subclass of: DOID_12010
creation date: 2014-05-09T02:38:13Z
id: DOID:0050863
has_obo_namespace: disease_ontology
created by: lschriml

non-arteritic anterior ischemic optic neuropathy
type: Class
subclass of: DOID_12010
creation date: 2014-05-09T02:38:13Z
id: DOID:0050864
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: nonarteritic anterior ischemic optic neuropathy

tongue squamous cell carcinoma
type: Class
subclass of: oral squamous cell carcinoma
subclass of: DOID 8649
creation date: 2014-05-12T02:38:44Z
definition: A tongue cancer that is located_in the squamous cells of the tongue.
id: DOID:0050865
database_cross_reference: ICD9CM:141.9
database_cross_reference: MSH:D002294
database_cross_reference: NCI:C2929
database_cross_reference: SNOMEDCT_US_2015_03_01:154605007
database_cross_reference: SNOMEDCT_US_2015_03_01:189566008
database_cross_reference: SNOMEDCT_US_2015_03_01:28899001
database_cross_reference: SNOMEDCT_US_2015_03_01:402815007
database_cross_reference: UMLS_CUI:C0007137
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: squamous-cell carcinoma
database_cross_reference: ICD10CM:C02.9

Axiom
annotated target: A tongue cancer that is located_in the squamous cells of the tongue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma
annotated source: tongue squamous cell carcinoma
annotated property: definition

oral squamous cell carcinoma
type: Class
subclass of: DOID 1749
subclass of: DOID 403
subclass of: DOID 8618
creation date: 2014-05-12T02:45:04Z
definition: An oral cavity cancer that has_material_basis_in squamous cells.
id: DOID:0050866
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: mouth squamous cell carcinoma
in_subset: DO cancer slim

Axiom
annotated target: An oral cavity cancer that has_material_basis_in squamous cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated source: oral squamous cell carcinoma
annotated property: definition

Jensen syndrome
type: Class
subclass of: DOID 225
creation date: 2014-06-03T01:18:20Z
definition: A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
id: DOID:0050867
database_cross_reference: OMIM:311150
has_exact_synonym: OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
database_cross_reference: Orphanet:ORPHA3213
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
database_cross_reference: url:http://omim.org/entry/311150
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/3425626
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/7195649
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple
annotated source: Jensen syndrome
annotated property: definition

hepatocellular adenoma
type: Class
subclass of: DOID 657
creation date: 2014-06-25T05:07:35Z
id: DOID:0050868
has_obo_namespace: disease_ontology
created by: lschriml

villous adenoma
type: Class
subclass of: DOID 657
creation date: 2014-06-25T05:08:30Z
id: DOID:0050869
has_obo_namespace: disease_ontology
created by: lschriml

in situ pulmonary adenocarcinoma
type: Class
subclass of: DOID 1324
creation date: 2014-06-25T05:10:52Z
definition: A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
id: DOID:0050870
has_exact_synonym: bronchioalveolar carcinoma
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma
annotated source: in situ pulmonary adenocarcinoma
annotated property: definition

fibroma
type: Class
subclass of: cell type benign neoplasm
creation date: 2014-06-25T05:14:03Z
id: DOID:0050871
has_obo_namespace: disease_ontology
created by: lschriml

large cell neuroendocrine carcinoma
type: Class
subclass of: DOID 4556
creation date: 2014-06-25T05:17:11Z
id: DOID:0050872
has_obo_namespace: disease_ontology
created by: lschriml

follicular lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
creation date: 2014-06-25T05:24:10Z
definition: A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
id: DOID:0050873
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
database_cross_reference: url:http://en.wikipedia.org/wiki/Follicular_lymphoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=428287
annotated source: follicular lymphoma
annotated property: definition

small cell neuroendocrine carcinoma
type: Class
subclass of: DOID 5409
creation date: 2014-06-25T05:31:24Z
id: DOID:0050875
has_obo_namespace: disease_ontology
created by: lschriml

Caroli disease
type: Class
subclass of: DOID 4138
creation date: 2014-07-09T01:28:09Z
definition: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
id: DOID:0050876
database_cross_reference: MSH:D016767
database_cross_reference: NCI:C84619
database_cross_reference: SNOMEDCT_US_2015_03_01:111331000
database_cross_reference: UMLS_CUI:C0162510
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
database_cross_reference: url:http://en.wikipedia.org/wiki/Caroli_disease
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract
annotated source: Caroli disease
annotated property: definition

pancreatic agenesis
type: Class
subclass of: DOID 26
creation date: 2014-07-09T03:35:41Z
definition: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
id: DOID:0050877
database_cross_reference: OMIM:260370
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: partial pancreatic agenesis

Axiom
annotated target: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805
annotated source: pancreatic agenesis
annotated property: definition

CLONE OF congenital afibrinogenemia
type: Class
creation date: 2014-07-29T01:17:13Z
id: DOID:0050878
has_exact_synonym: Factor I deficiency
has_exact_synonym: Fibrinogen deficiency
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
created by: lschriml
deprecated: true

Axiom
annotated target: Factor I deficiency
database_cross_reference: NCI2004_11_17:C26692
annotated source: CLONE OF congenital afibrinogenemia
annotated property: has_exact_synonym

Axiom
annotated target: Fibrinogen deficiency
database_cross_reference: SNOMEDCT_2005_07_31:29718007
annotated source: CLONE OF congenital afibrinogenemia
annotated property: has_exact_synonym

fragile X-associated tremor/ataxia syndrome
type: Class
subclass of: X-linked hereditary ataxia
creation date: 2014-08-04T01:52:12Z
definition: A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
id: DOID:0050879
has_exact_synonym: FXTAS syndrome
database_cross_reference: OMIM:300623
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome
database_cross_reference: url:http://omim.org/entry/300623
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/18195136
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256
annotated source: fragile X-associated tremor/ataxia syndrome
annotated property: definition

Koolen de Vries syndrome
type: Class
subclass of: DOID 225
has_exact_synonym: 17q21.31 microdeletion syndrome
creation date: 2014-08-06T12:57:12Z
definition: A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
id: DOID:0050880
has_exact_synonym: KANSL1-related intellectual disability syndrome
has_exact_synonym: KdVS
has_exact_synonym: Koolen-De Vries syndrome
database_cross_reference: OMIM:610443
database_cross_reference: ORDO:96169
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
database_cross_reference: url:http://omim.org/entry/610443
database_cross_reference: url:http://www.17q21.com/en/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK24676/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22544363
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22544367
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169
annotated source: Koolen de Vries syndrome
annotated property: definition

inclusion body myopathy with Paget disease of bone and frontotemporal dementia
type: Class
subclass of: DOID 225
creation date: 2014-08-06T02:30:16Z
definition: A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP).
id: DOID:0050881
has_exact_synonym: IBMPFD
database_cross_reference: OMIM:167320
database_cross_reference: OMIM:615422
database_cross_reference: OMIM:615424
has_obo_namespace: disease_ontology
has_exact_synonym: inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP).
database_cross_reference: url:http://omim.org/entry/167320
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19380227
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21892620
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21304887
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple
annotated source: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
annotated property: definition

spinocerebellar ataxia type 5
type: Class
subclass of: DOID 1441
creation date: 2014-08-06T03:51:03Z
definition: An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene.
id: DOID:0050882
database_cross_reference: OMIM:600224
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20368622
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766
annotated source: spinocerebellar ataxia type 5
annotated property: definition

infantile cerebellar-retinal degeneration
type: Class
subclass of: DOID 1289
creation date: 2014-08-06T04:09:42Z
definition: A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
id: DOID:0050883
database_cross_reference: OMIM:614559
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
database_cross_reference: url:http://omim.org/entry/614559
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22405087
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23438437
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850
database_cross_reference: url:http://www.uniprot.org/diseases/DI-03409
annotated source: infantile cerebellar-retinal degeneration
annotated property: definition

triosephosphate isomerase deficiency
type: Class
subclass of: DOID 4194
creation date: 2014-08-07T11:44:31Z
definition: A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
id: DOID:0050884
database_cross_reference: OMIM:190450
database_cross_reference: OMIM:615512
has_exact_synonym: Triose phosphate-isomerase deficiency
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
database_cross_reference: url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency
database_cross_reference: url:http://omim.org/entry/615512
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16980388
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17424909
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23318931
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport
annotated source: triosephosphate isomerase deficiency
annotated property: definition

IMAGe syndrome
type: Class
subclass of: DOID 225
creation date: 2014-08-07T12:04:30Z
definition: A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene.
id: DOID:0050885
database_cross_reference: OMIM:614732
has_obo_namespace: disease_ontology
has_exact_synonym: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
created by: lschriml

Axiom
annotated target: A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene.
database_cross_reference: url:http://omim.org/entry/614732
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/14760276
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22634751
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/23719190
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/24065356
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173
annotated source: IMAGe syndrome
annotated property: definition

Troyer syndrome
type: Class
subclass of: DOID 2476
creation date: 2014-08-07T12:18:56Z
definition: A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
id: DOID:0050886
database_cross_reference: OMIM:275900
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: spastic paraplegia 20 (Troyer syndrome)
has_exact_synonym: spastic paraplegia type 20

Axiom
annotated target: A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/SPG20
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/troyer-syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/SPG20
database_cross_reference: url:http://omim.org/entry/275900
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/20301556
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple
annotated source: Troyer syndrome
annotated property: definition

Townes-Brocks syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2014-08-11T03:58:35Z
definition: An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
id: DOID:0050887
database_cross_reference: OMIM:107480
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
database_cross_reference: url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12925729
database_cross_reference: url:http://www.omim.org/entry/107480
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple
annotated source: Townes-Brocks syndrome
annotated property: definition

syndromic intellectual disability
type: Class
subclass of: intellectual disability
creation date: 2014-08-14T10:55:32Z
definition: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
id: DOID:0050888
database_cross_reference: OMIM:300486
database_cross_reference: OMIM:300860
database_cross_reference: OMIM:309583
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
database_cross_reference: url:http://en.wikipedia.org/wiki/Intellectual_disability
annotated source: syndromic intellectual disability
annotated property: definition

non-syndromic intellectual disability
type: Class
subclass of: intellectual disability
creation date: 2014-08-14T10:57:36Z
definition: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
id: DOID:0050889
database_cross_reference: OMIM:613192
database_cross_reference: OMIM:614202
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
database_cross_reference: url:http://en.wikipedia.org/wiki/Intellectual_disability
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/
annotated source: non-syndromic intellectual disability
annotated property: definition

synucleinopathy
type: Class
subclass of: DOID 1289
creation date: 2014-08-14T03:29:17Z
definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
id: DOID:0050890
has_related_synonym: Synucleinopathies
has_exact_synonym: alpha Synucleinopathies
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Synucleinopathies
annotated source: synucleinopathy
annotated property: definition

adrenal cortical adenoma
type: Class
subclass of: DOID 656
creation date: 2014-09-04T01:54:59Z
definition: An adrenal adenoma that is a benign tumor of the adrenal cortex.
id: DOID:0050891
has_exact_synonym: adrenocortical adenoma
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An adrenal adenoma that is a benign tumor of the adrenal cortex.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma
annotated source: adrenal cortical adenoma
annotated property: definition

adrenal gland pheochromocytoma
type: Class
subclass of: DOID 5719
creation date: 2014-09-11T01:01:57Z
definition: An adrenal medulla cancer that is characterized by overproduction of adrenaline.
id: DOID:0050892
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An adrenal medulla cancer that is characterized by overproduction of adrenaline.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Pheochromocytoma
database_cross_reference: url:http://www.cancer.gov/cancertopics/types/pheochromocytoma
annotated source: adrenal gland pheochromocytoma
annotated property: definition

gallbladder adenoma
type: Class
subclass of: bladder benign neoplasm
subclass of: biliary tract neoplasm
subclass of: gallbladder disease
subclass of: DOID 657
creation date: 2014-09-11T01:53:07Z
definition: A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
id: DOID:0050893
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated source: gallbladder adenoma
annotated property: definition

ameloblastoma
type: Class
subclass of: cell type benign neoplasm
creation date: 2014-09-11T02:44:50Z
definition: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
id: DOID:0050894
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ameloblastoma
annotated source: ameloblastoma
annotated property: definition

bone ameloblastoma
type: Class
subclass of: bone benign neoplasm
creation date: 2014-09-11T02:46:51Z
definition: A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
id: DOID:0050895
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ameloblastoma
annotated source: bone ameloblastoma
annotated property: definition

bone squamous cell carcinoma
type: Class
subclass of: DOID 2762
creation date: 2014-09-11T02:50:46Z
definition: A bone carcinoma that derives_from squamous epithelial cells.
id: DOID:0050896
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A bone carcinoma that derives_from squamous epithelial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated source: bone squamous cell carcinoma
annotated property: definition

bone chondrosarcoma
type: Class
subclass of: DOID 3371
creation date: 2014-09-11T02:55:07Z
definition: A chondrosarcoma that is located_in bone.
id: DOID:0050897
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A chondrosarcoma that is located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chondrosarcoma
annotated source: bone chondrosarcoma
annotated property: definition

phalanx chondroma
type: Class
subclass of: bone benign neoplasm
subclass of: DOID 2602
creation date: 2014-09-11T03:42:42Z
definition: A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
id: DOID:0050898
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chondroma
annotated source: phalanx chondroma
annotated property: definition

brain stem medulloblastoma
type: Class
subclass of: medulloblastoma
subclass of: DOID 4203
creation date: 2014-10-06T14:23:29Z
definition: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
id: DOID:0050899
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma
annotated source: brain stem medulloblastoma
annotated property: definition

sacrum chordoma
type: Class
subclass of: DOID 4153
creation date: 2014-10-06T14:25:16Z
definition: A spinal chordoma that is located_in the sacrum.
id: DOID:0050900
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A spinal chordoma that is located_in the sacrum.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sacrum
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45297
annotated source: sacrum chordoma
annotated property: definition

corpus callosum oligodendroglioma
type: Class
subclass of: DOID 3187
creation date: 2014-10-06T14:26:18Z
definition: A brain oligodendroglioma located_in the corpus callosum.
id: DOID:0050901
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A brain oligodendroglioma located_in the corpus callosum.
database_cross_reference: url:http://en.wikipedia.org/wiki/Corpus_callosum
database_cross_reference: url:http://en.wikipedia.org/wiki/Oligodendroglioma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46257
annotated source: corpus callosum oligodendroglioma
annotated property: definition

medulloblastoma
type: Class
subclass of: DOID 4706
creation date: 2014-10-06T14:36:37Z
definition: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
has_exact_synonym: CNS PNET
has_exact_synonym: CPNET
id: DOID:0050902
has_alternative_id: DOID:0060105
has_alternative_id: DOID:168
has_alternative_id: DOID:3858
has_alternative_id: DOID:4981
database_cross_reference: MSH:D008527
database_cross_reference: MSH:D018242
database_cross_reference: NCI:C27294
database_cross_reference: NCI:C3222
database_cross_reference: NCI:C5398
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:155255
database_cross_reference: SNOMEDCT_US_2015_03_01:189921005
database_cross_reference: SNOMEDCT_US_2015_03_01:189925001
database_cross_reference: SNOMEDCT_US_2015_03_01:39781001
database_cross_reference: SNOMEDCT_US_2015_03_01:443333004
database_cross_reference: SNOMEDCT_US_2015_03_01:699028006
database_cross_reference: SNOMEDCT_US_2015_03_01:83217000
database_cross_reference: UMLS_CUI:C0025149
database_cross_reference: UMLS_CUI:C0206663
database_cross_reference: UMLS_CUI:C1334410
has_exact_synonym: brain medulloblastoma
has_obo_namespace: disease_ontology
has_exact_synonym: infratentorial primitive neuroectodermal tumor
has_exact_synonym: localized primitive neuroectodermal tumor
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: CNS PNET
database_cross_reference: NCI2004_11_17:C5398
annotated source: medulloblastoma
annotated property: has_exact_synonym

Axiom
annotated target: CPNET
database_cross_reference: SNOMEDCT_2005_07_31:39781001
annotated source: medulloblastoma
annotated property: has_exact_synonym

Axiom
annotated target: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45780
annotated source: medulloblastoma
annotated property: definition

parietal lobe ependymoma
type: Class
subclass of: DOID_14384
creation date: 2014-10-08T16:00:54Z
definition: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
id: DOID:0050903
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46432
annotated source: parietal lobe ependymoma
annotated property: definition

salivary gland carcinoma
type: Class
subclass of: DOID 305
subclass of: DOID 8850
creation date: 2014-10-08T16:52:58Z
definition: A salivary gland cancer that has_material_basis_in epithelial cells.
id: DOID:0050904
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A salivary gland cancer that has_material_basis_in epithelial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45963
annotated source: salivary gland carcinoma
annotated property: definition

inflammatory myofibroblastic tumor
type: Class
subclass of: DOID 3350
creation date: 2014-10-09T14:18:08Z
definition: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
id: DOID:0050905
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23091756
annotated source: inflammatory myofibroblastic tumor
annotated property: definition

conjunctival nevus
type: Class
subclass of: sensory organ benign neoplasm
creation date: 2014-10-13T11:47:25Z
definition: A sensory organ benign neoplasm that is located in the eye conjunctiva.
id: DOID:0050906
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A sensory organ benign neoplasm that is located in the eye conjunctiva.
database_cross_reference: url:http://en.wikipedia.org/wiki/Conjunctiva
database_cross_reference: url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors
annotated source: conjunctival nevus
annotated property: definition

mixed extragonadal germ cell cancer
type: Class
subclass of: DOID 3306
creation date: 2014-10-13T12:37:37Z
definition: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
id: DOID:0050907
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
database_cross_reference: url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=444993
annotated source: mixed extragonadal germ cell cancer
annotated property: definition

myelodysplastic syndrome
type: Class
subclass of: DOID 4960
creation date: 2014-10-13T12:51:33Z
definition: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
id: DOID:0050908
database_cross_reference: ICD10CM:D46.9
database_cross_reference: ICD9:238.7
database_cross_reference: ICD9CM:238.75
database_cross_reference: MSH:D009190
database_cross_reference: NCI:C3247
database_cross_reference: SNOMEDCT_US_2015_03_01:109995007
database_cross_reference: SNOMEDCT_US_2015_03_01:109999001
database_cross_reference: SNOMEDCT_US_2015_03_01:128623006
database_cross_reference: SNOMEDCT_US_2015_03_01:188736006
database_cross_reference: SNOMEDCT_US_2015_03_01:189508006
database_cross_reference: SNOMEDCT_US_2015_03_01:189515003
database_cross_reference: SNOMEDCT_US_2015_03_01:190229005
database_cross_reference: SNOMEDCT_US_2015_03_01:25707000
database_cross_reference: SNOMEDCT_US_2015_03_01:393565000
database_cross_reference: SNOMEDCT_US_2015_03_01:4227006
database_cross_reference: UMLS_CUI:C0026986
database_cross_reference: UMLS_CUI:C2713368
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
database_cross_reference: url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45266
annotated source: myelodysplastic syndrome
annotated property: definition

MALT lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
creation date: 2014-10-13T14:17:40Z
definition: A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
id: DOID:0050909
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: mucosa-associated lymphoid tissue lymphoma
in_subset: DO cancer slim

Axiom
annotated target: A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45774
annotated source: MALT lymphoma
annotated property: definition

cecum adenoma
type: Class
subclass of: DOID 1517
subclass of: DOID 657
creation date: 2014-10-13T14:41:01Z
definition: A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
id: DOID:0050910
has_exact_synonym: caecum adenoma
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated source: cecum adenoma
annotated property: definition

appendix carcinoid tumor
type: Class
subclass of: appendix cancer
creation date: 2014-10-13T14:45:41Z
definition: An appendix cancer that has_material_basis_in neurodendocrine cells.
id: DOID:0050911
has_exact_synonym: appendix carcinoid endocrine tumour
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An appendix cancer that has_material_basis_in neurodendocrine cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoid
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=44233
annotated source: appendix carcinoid tumor
annotated property: definition

colon adenoma
type: Class
subclass of: DOID 235
subclass of: DOID 657
creation date: 2014-10-13T14:56:27Z
definition: A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
id: DOID:0050912
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Colorectal_adenoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46217
annotated source: colon adenoma
annotated property: definition

large intestine adenocarcinoma
type: Class
subclass of: DOID 299
subclass of: DOID 5672
creation date: 2014-10-13T15:00:10Z
definition: A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
id: DOID:0050913
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46216
annotated source: large intestine adenocarcinoma
annotated property: definition

large intestine adenoma
type: Class
subclass of: DOID 4610
subclass of: DOID 657
creation date: 2014-10-13T15:07:10Z
definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
id: DOID:0050914
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated source: large intestine adenoma
annotated property: definition

rectum adenoma
type: Class
subclass of: DOID 1984
subclass of: DOID 657
creation date: 2014-10-13T15:09:51Z
definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum.
id: DOID:0050915
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated source: rectum adenoma
annotated property: definition

bronchus mucoepidermoid carcinoma
type: Class
subclass of: DOID 3904
subclass of: DOID 4531
creation date: 2014-10-13T15:13:54Z
definition: A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells.
id: DOID:0050916
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma
database_cross_reference: url:http://oralcancerfoundation.org/facts/rare/mc/
annotated source: bronchus mucoepidermoid carcinoma
annotated property: definition

lung combined type small cell adenocarcinoma
type: Class
subclass of: DOID 5421
creation date: 2014-10-13T15:36:11Z
definition: A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
id: DOID:0050917
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45327
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46216
annotated source: lung combined type small cell adenocarcinoma
annotated property: definition

vaginal carcinoma
type: Class
subclass of: DOID 119
creation date: 2014-10-21T11:37:19Z
definition: A vaginal cancer that has_material_basis_in epithelial cells.
id: DOID:0050918
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A vaginal cancer that has_material_basis_in epithelial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma
annotated source: vaginal carcinoma
annotated property: definition

trachea mucoepidermoid carcinoma
type: Class
subclass of: DOID 4531
subclass of: DOID 4876
creation date: 2014-10-21T11:42:42Z
definition: A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells.
id: DOID:0050919
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma
annotated source: trachea mucoepidermoid carcinoma
annotated property: definition

tonsil squamous cell carcinoma
type: Class
subclass of: pharynx squamous cell carcinoma
subclass of: DOID 8858
creation date: 2014-10-21T11:48:00Z
definition: A tonsil cancer that has_material_basis_in squamous cells.
id: DOID:0050920
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A tonsil cancer that has_material_basis_in squamous cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated source: tonsil squamous cell carcinoma
annotated property: definition

pharynx squamous cell carcinoma
type: Class
subclass of: pharynx cancer
subclass of: DOID 1749
creation date: 2014-10-21T11:54:00Z
definition: A pharynx cancer that has_material_basis_in squamous cells.
id: DOID:0050921
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A pharynx cancer that has_material_basis_in squamous cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated source: pharynx squamous cell carcinoma
annotated property: definition

gastrointestinal carcinoma
type: Class
subclass of: DOID 3119
creation date: 2014-10-21T11:56:36Z
definition: A gastrointestinal system cancer that has_material_basis_in epithelial cells.
id: DOID:0050922
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A gastrointestinal system cancer that has_material_basis_in epithelial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma
annotated source: gastrointestinal carcinoma
annotated property: definition

spindle epithelial tumor with thymus-like differentiation tumor
type: Class
subclass of: DOID 3963
creation date: 2014-10-21T12:26:31Z
definition: A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
id: DOID:0050923
has_exact_synonym: SETTLE tumor
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19417583
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/2050369
database_cross_reference: url:http://www.pathologyoutlines.com/topic/thyroidsettle.html
database_cross_reference: url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext
annotated source: spindle epithelial tumor with thymus-like differentiation tumor
annotated property: definition

striated muscle rhabdoid tumor
type: Class
subclass of: DOID 4045
creation date: 2014-10-21T12:38:23Z
definition: A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
id: DOID:0050924
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
database_cross_reference: url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46139
annotated source: striated muscle rhabdoid tumor
annotated property: definition

small intestine carcinoid neuroendocrine tumor
type: Class
subclass of: small intestine cancer
creation date: 2014-10-21T12:58:08Z
definition: A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
id: DOID:0050925
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoid
annotated source: small intestine carcinoid neuroendocrine tumor
annotated property: definition

jejunal adenocarcinoma
type: Class
subclass of: DOID_13499
creation date: 2014-10-21T13:00:15Z
definition: A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
id: DOID:0050926
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma
annotated source: jejunal adenocarcinoma
annotated property: definition

duodenum adenoma
type: Class
subclass of: DOID 1737
subclass of: DOID 657
creation date: 2014-10-21T13:02:15Z
definition: A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
id: DOID:0050927
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated source: duodenum adenoma
annotated property: definition

ovarian melanoma
type: Class
subclass of: DOID 2394
creation date: 2014-10-21T13:27:44Z
definition: An ovarian cancer that has_material_basis_in melanoctyes.
id: DOID:0050928
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An ovarian cancer that has_material_basis_in melanoctyes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Melanoma
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15166669
annotated source: ovarian melanoma
annotated property: definition

mucosal melanoma
type: Class
subclass of: DOID 1909
creation date: 2014-10-21T13:51:49Z
definition: A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
id: DOID:0050929
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic
annotated source: mucosal melanoma
annotated property: definition

sublingual gland adenoid cystic carcinoma
type: Class
subclass of: DOID 8849
creation date: 2014-10-21T14:04:40Z
definition: A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
id: DOID:0050930
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma
annotated source: sublingual gland adenoid cystic carcinoma
annotated property: definition

parotid gland adenoid cystic carcinoma
type: Class
subclass of: DOID 9036
creation date: 2014-10-21T14:09:29Z
definition: A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
id: DOID:0050931
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Parotid_gland
annotated source: parotid gland adenoid cystic carcinoma
annotated property: definition

lung mucoepidermoid carcinoma
type: Class
subclass of: DOID 3905
subclass of: DOID 4531
creation date: 2014-10-21T15:13:36Z
definition: A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells.
id: DOID:0050932
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma
annotated source: lung mucoepidermoid carcinoma
annotated property: definition

ovarian serous carcinoma
type: Class
subclass of: DOID 4001
creation date: 2014-10-21T15:51:41Z
definition: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
id: DOID:0050933
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
database_cross_reference: url:http://en.wikipedia.org/wiki/Serous_carcinoma
annotated source: ovarian serous carcinoma
annotated property: definition

ovarian clear cell carcinoma
type: Class
subclass of: DOID 4001
creation date: 2014-10-21T15:54:52Z
definition: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
id: DOID:0050934
has_exact_synonym: clear-cell ovarian carcinoma
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma
annotated source: ovarian clear cell carcinoma
annotated property: definition

cervical neuroblastoma
type: Class
subclass of: DOID 371
creation date: 2014-10-21T16:02:01Z
definition: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
id: DOID:0050935
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Neuroblastoma
database_cross_reference: url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15390353
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/9262064
annotated source: cervical neuroblastoma
annotated property: definition

extra-adrenal pheochromocytoma
type: Class
subclass of: DOID 5719
creation date: 2014-10-22T10:25:45Z
definition: An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
id: DOID:0050936
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pheochromocytoma
annotated source: extra-adrenal pheochromocytoma
annotated property: definition

retroperitoneal neuroblastoma
type: Class
subclass of: DOID 5875
creation date: 2014-10-22T11:18:01Z
definition: A retroperitoneal cancer that has_material_basis_in immature nerve cells.
id: DOID:0050937
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A retroperitoneal cancer that has_material_basis_in immature nerve cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Neuroblastoma
database_cross_reference: url:http://en.wiktionary.org/wiki/retroperitoneal
annotated source: retroperitoneal neuroblastoma
annotated property: definition

breast lobular carcinoma
type: Class
subclass of: DOID 3459
creation date: 2014-10-22T13:05:34Z
definition: A breast carcinoma that derives_from breast lobules (milk glands).
id: DOID:0050938
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A breast carcinoma that derives_from breast lobules (milk glands).
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/breastlobular
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=426416
annotated source: breast lobular carcinoma
annotated property: definition

uterine corpus endometrial carcinoma
type: Class
subclass of: DOID 9460
creation date: 2014-10-22T14:26:22Z
definition: A uterine corpus cancer that is derived_from the inner lining of the uterus.
id: DOID:0050939
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A uterine corpus cancer that is derived_from the inner lining of the uterus.
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/endometrial
annotated source: uterine corpus endometrial carcinoma
annotated property: definition

endocervical adenocarcinoma
type: Class
subclass of: DOID 7519
creation date: 2014-10-24T15:51:48Z
definition: An endocervical carcinoma that derives_from epithelial cells of glandular origin.
id: DOID:0050940
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: An endocervical carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/12207781
annotated source: endocervical adenocarcinoma
annotated property: definition

spastic ataxia 2
type: Class
subclass of: spastic ataxia
creation date: 2015-09-18T14:13:49Z
id: DOID:0050941
database_cross_reference: OMIM:611302
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

spastic ataxia 3
type: Class
subclass of: spastic ataxia
creation date: 2015-09-18T14:13:49Z
id: DOID:0050942
database_cross_reference: OMIM:611390
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

spastic ataxia 4
type: Class
subclass of: spastic ataxia
creation date: 2015-09-18T14:13:49Z
id: DOID:0050943
database_cross_reference: OMIM:613672
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

spastic ataxia 5
type: Class
subclass of: spastic ataxia
creation date: 2015-09-18T14:13:49Z
id: DOID:0050944
database_cross_reference: OMIM:614487
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

spastic ataxia 7
type: Class
subclass of: spastic ataxia
creation date: 2015-09-18T14:13:49Z
id: DOID:0050945
database_cross_reference: OMIM:108650
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Charlevoix-Saguenay spastic ataxia
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-09-18T14:13:49Z
id: DOID:0050946
database_cross_reference: OMIM:270550
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

hereditary hypophosphatemic rickets with hypercalciuria
type: Class
subclass of: rickets
creation date: 2015-10-01T12:10:26Z
definition: A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
id: DOID:0050947
database_cross_reference: OMIM:241530
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
database_cross_reference: url:http://www.omim.org/entry/241530?search=241530&highlight=241530
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple
annotated source: hereditary hypophosphatemic rickets with hypercalciuria
annotated property: definition

autosomal dominant hypophosphatemic rickets
type: Class
subclass of: rickets
creation date: 2015-10-01T12:10:30Z
definition: A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
id: DOID:0050948
database_cross_reference: OMIM:193100
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/26365554
database_cross_reference: url:http://www.omim.org/entry/193100?search=193100&highlight=193100
annotated source: autosomal dominant hypophosphatemic rickets
annotated property: definition

autosomal recessive hypophosphatemic rickets
type: Class
subclass of: rickets
creation date: 2015-10-01T12:10:33Z
definition: A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
id: DOID:0050949
database_cross_reference: OMIM:241520
database_cross_reference: OMIM:613312
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
database_cross_reference: url:http://www.omim.org/entry/241520?search=241520&highlight=241520
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple
annotated source: autosomal recessive hypophosphatemic rickets
annotated property: definition

autosomal recessive cerebellar ataxia
type: Class
subclass of: hereditary ataxia
creation date: 2015-10-05T14:21:08Z
definition: A hereditary ataxia that has_material_basis_in autosomal recessive inheritance.
id: DOID:0050950
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A hereditary ataxia that has_material_basis_in autosomal recessive inheritance.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/
annotated source: autosomal recessive cerebellar ataxia
annotated property: definition

hereditary ataxia
type: Class
subclass of: DOID 1289
creation date: 2015-10-05T14:38:17Z
definition: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
id: DOID:0050951
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138
annotated source: hereditary ataxia
annotated property: definition

spastic ataxia
type: Class
subclass of: hereditary ataxia
creation date: 2015-10-05T14:39:34Z
id: DOID:0050952
has_obo_namespace: disease_ontology
created by: lschriml

X-linked hereditary ataxia
type: Class
subclass of: hereditary ataxia
creation date: 2015-10-05T15:41:09Z
id: DOID:0050953
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 1
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:07:27Z
id: DOID:0050954
database_cross_reference: OMIM:164400
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 2
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:07:27Z
id: DOID:0050955
database_cross_reference: OMIM:183090
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 6
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:07:27Z
id: DOID:0050956
database_cross_reference: OMIM:183086
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 4
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:07:27Z
id: DOID:0050957
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 7
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:07:27Z
id: DOID:0050958
database_cross_reference: OMIM:164500
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 8
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050959
database_cross_reference: OMIM:608768
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 10
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050960
database_cross_reference: OMIM:603516
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 11
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050961
database_cross_reference: OMIM:604432
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 12
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050962
database_cross_reference: OMIM:604326
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 13
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050963
database_cross_reference: OMIM:605259
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 14
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050964
database_cross_reference: OMIM:605361
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 15
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050965
database_cross_reference: OMIM:606658
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 16
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050966
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 17
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050967
database_cross_reference: OMIM:607136
has_obo_namespace: disease_ontology
created by: lschriml

autosomal dominant cerebellar ataxia, deafness and narcolepsy
type: Class
subclass of: DOID 1441
creation date: 2015-10-05T16:12:39Z
id: DOID:0050968
database_cross_reference: OMIM:604121
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 18
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050969
database_cross_reference: OMIM:607458
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 19/22
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050970
database_cross_reference: OMIM:607346
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 20
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050971
database_cross_reference: OMIM:608687
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 21
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050972
database_cross_reference: OMIM:607454
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 23
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050973
database_cross_reference: OMIM:610245
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 25
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050974
database_cross_reference: OMIM:608703
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 26
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050975
database_cross_reference: OMIM:609306
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 27
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050976
database_cross_reference: OMIM:609307
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 28
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050977
database_cross_reference: OMIM:610246
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 29
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050978
database_cross_reference: OMIM:117360
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 30
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050979
database_cross_reference: OMIM:613371
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 31
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050980
database_cross_reference: OMIM:117210
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 34
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050981
database_cross_reference: OMIM:133190
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 35
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050982
database_cross_reference: OMIM:613908
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 36
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050983
database_cross_reference: OMIM:614153
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 37
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050984
database_cross_reference: OMIM:615945
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 38
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050985
database_cross_reference: OMIM:615957
has_obo_namespace: disease_ontology
created by: lschriml

spinocerebellar ataxia type 40
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:11:07Z
id: DOID:0050986
database_cross_reference: OMIM:616053
has_obo_namespace: disease_ontology
created by: lschriml

hypomyelinating leukoencephalopathy
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:24:06Z
id: DOID:0050987
database_cross_reference: OMIM:612438
has_obo_namespace: disease_ontology
created by: lschriml

GRID2-related spinocerebellar ataxia
type: Class
subclass of: DOID 1441
creation date: 2015-10-06T16:24:06Z
id: DOID:0050988
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 1
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050989
database_cross_reference: OMIM:160120
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 2
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050990
database_cross_reference: OMIM:108500
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 3
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050991
database_cross_reference: OMM:606554
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 4
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050992
database_cross_reference: OMIM:606552
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 5
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050993
database_cross_reference: OMIM:613855
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 6
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050994
database_cross_reference: OMIM:612656
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 7
type: Class
subclass of: DOID 963
creation date: 2015-10-06T16:26:26Z
id: DOID:0050995
database_cross_reference: OMIM:611907
has_obo_namespace: disease_ontology
created by: lschriml

episodic ataxia type 8
type: Class
subclass of: DOID 963
creation date: 2015-10-07T13:38:56Z
id: DOID:0050996
database_cross_reference: OMIM:616055
has_obo_namespace: disease_ontology
created by: lschriml

cerebellar ataxia, mental retardation and dysequlibrium syndrome
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T13:48:09Z
definition: An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
has_exact_synonym: CAMRQ
id: DOID:0050997
database_cross_reference: OMIM:224050
database_cross_reference: OMIM:610185
database_cross_reference: OMIM:613227
database_cross_reference: OMIM:615268
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/
database_cross_reference: url:http://www.omim.org/entry/224050?search=224050&highlight=224050
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1777&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1766&Disease(s)/group%20of%20diseases=CAMRQ-syndrome&title=CAMRQ-syndrome&search=Disease_Search_Simple
annotated source: cerebellar ataxia, mental retardation and dysequlibrium syndrome
annotated property: definition

nonprogressive cerebellar atxia with mental retardation
type: Class
subclass of: cerebellar ataxia
creation date: 2015-10-07T14:08:24Z
id: DOID:0050998
database_cross_reference: OMIM:614756
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 10
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:43:23Z
id: DOID:0050999
database_cross_reference: OMIM:613728
has_exact_synonym: SCAR10
has_obo_namespace: disease_ontology
created by: lschriml

infective endocarditis
type: Class
subclass of: endocarditis
definition: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
id: DOID:0060000
has_obo_namespace: disease_ontology

Axiom
annotated target: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
database_cross_reference: url:http://en.wikipedia.org/wiki/Infective_endocarditis
database_cross_reference: url:http://wn.wikipedia.org/wiki/Endocarditis
annotated source: infective endocarditis
annotated property: definition

withdrawal disorder
type: Class
subclass of: DOID 303
definition: A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
id: DOID:0060001
has_obo_namespace: disease_ontology

Axiom
annotated target: A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
database_cross_reference: url:http://en.wikipedia.org/wiki/Withdrawal
annotated source: withdrawal disorder
annotated property: definition

C1 inhibitor deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
id: DOID:0060002
has_exact_synonym: Quincke edema
has_obo_namespace: disease_ontology

Axiom
annotated target: A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
database_cross_reference: ls:IEDB
database_cross_reference: url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease
annotated source: C1 inhibitor deficiency
annotated property: definition

autoimmune disease of central nervous system
type: Class
subclass of: DOID 331
subclass of: DOID 438
definition: An autoimmune disease of the central nervous system.
id: DOID:0060004
has_obo_namespace: disease_ontology

Axiom
annotated target: An autoimmune disease of the central nervous system.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of central nervous system
annotated property: definition

autoimmune disease of endocrine system
type: Class
subclass of: DOID 28
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
id: DOID:0060005
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of endocrine system
annotated property: definition

artemis deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
id: DOID:0060006
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
database_cross_reference: url:http://en.wikipedia.org/wiki/DCLRE1C
annotated source: artemis deficiency
annotated property: definition

CD3zeta deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that affects the development and function of T cells.
id: DOID:0060007
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that affects the development and function of T cells.
database_cross_reference: url:http://bioinf.uta.fi/CD247base/
annotated source: CD3zeta deficiency
annotated property: definition

janus kinase-3 deficiency
type: Class
subclass of: DOID 627
id: DOID:0060008
has_obo_namespace: disease_ontology

MHC class I deficiency
type: Class
subclass of: DOID 627
has_exact_synonym: BLS, TYPE I
has_exact_synonym: BLSI
id: DOID:0060009
has_exact_synonym: HLA CLASS I DEFICIENCY
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:604571
has_exact_synonym: bare lymphocyte syndrome type I
has_obo_namespace: disease_ontology

Omenn syndrome
type: Class
subclass of: DOID 628
definition: A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
id: DOID:0060010
has_obo_namespace: disease_ontology

Axiom
annotated target: A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency
annotated source: Omenn syndrome
annotated property: definition

recombinase activating gene 1 deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
id: DOID:0060011
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
database_cross_reference: url:http://bioinf.uta.fi/RAG1base/
database_cross_reference: url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html
annotated source: recombinase activating gene 1 deficiency
annotated property: definition

recombinase activating gene 2 deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
id: DOID:0060012
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
database_cross_reference: url:http://bioinf.uta.fi/RAG2base/
database_cross_reference: url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html
annotated source: recombinase activating gene 2 deficiency
annotated property: definition

gamma chain deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
id: DOID:0060013
has_alternative_id: DOID:5811
database_cross_reference: MSH:D053632
database_cross_reference: NCI:C4682
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:300400
has_exact_synonym: SCID-X1
database_cross_reference: SNOMEDCT_US_2015_03_01:203592006
database_cross_reference: SNOMEDCT_US_2015_03_01:234569003
database_cross_reference: UMLS_CUI:C1279481
has_exact_synonym: X-Linked Severe Combined Immunodeficiency
has_exact_synonym: XSCID
has_obo_namespace: disease_ontology
has_exact_synonym: thymic epithelial hypoplasia

Axiom
annotated target: A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency
annotated source: gamma chain deficiency
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C4682
annotated target: X-Linked Severe Combined Immunodeficiency
annotated source: gamma chain deficiency
annotated property: has_exact_synonym

CD45 deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
id: DOID:0060014
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
database_cross_reference: url:http://bioinf.uta.fi/xml/idr/ff/FF6.xml
annotated source: CD45 deficiency
annotated property: definition

interleukin-7 receptor alpha deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
id: DOID:0060015
has_exact_synonym: IL-7R
has_related_synonym: IL7R
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
database_cross_reference: url:http://bioinf.uta.fi/IL7Rbase/
annotated source: interleukin-7 receptor alpha deficiency
annotated property: definition

CD3delta deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
has_exact_synonym: CD3D
id: DOID:0060016
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
database_cross_reference: url:http://bioinf.uta.fi/CD3Dbase/
annotated source: CD3delta deficiency
annotated property: definition

CD3epsilon deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
id: DOID:0060017
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
database_cross_reference: url:http://bioinf.uta.fi/CD3Ebase/
annotated source: CD3epsilon deficiency
annotated property: definition

CD3gamma deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
id: DOID:0060018
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
database_cross_reference: url:http://bioinf.uta.fi/CD3Gbase/
annotated source: CD3gamma deficiency
annotated property: definition

coronin-1A deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
id: DOID:0060019
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed
annotated source: coronin-1A deficiency
annotated property: definition

reticular dysgenesis
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
id: DOID:0060020
has_alternative_id: DOID:1226
has_exact_synonym: De Vaal disease
database_cross_reference: MSH:C538361
database_cross_reference: NCI:C27070
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:267500
database_cross_reference: SNOMEDCT_US_2015_03_01:111584000
database_cross_reference: UMLS_CUI:C0272167
has_related_synonym: aleukocytosis
has_obo_namespace: disease_ontology

Axiom
annotated target: A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/204?
annotated source: reticular dysgenesis
annotated property: definition

DNA ligase IV deficiency
type: Class
subclass of: DOID 628
definition: A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
id: DOID:0060021
has_exact_synonym: LIG4 Syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:606593
has_obo_namespace: disease_ontology

Axiom
annotated target: A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
database_cross_reference: url:http://omim.org/entry/606593
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/3981
annotated source: DNA ligase IV deficiency
annotated property: definition

CD40 ligand deficiency
type: Class
subclass of: DOID 628
definition: A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
id: DOID:0060022
has_exact_synonym: HIGMX-1
has_exact_synonym: X-linked hyper-IgM syndrome
has_obo_namespace: disease_ontology

Axiom
annotated target: A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
database_cross_reference: url:http://bioinf.uta.fi/CD40Lbase/
database_cross_reference: url:http://content.karger.com/ProdukteDB/produkte.asp?Doi=236923
annotated source: CD40 ligand deficiency
annotated property: definition

CD40 deficiency
type: Class
subclass of: DOID 628
definition: A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
id: DOID:0060023
has_obo_namespace: disease_ontology
has_exact_synonym: type 3 hyper-IgM immunodeficiency

Axiom
annotated target: A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
database_cross_reference: url:http://bioinf.uta.fi/CD40base/
annotated source: CD40 deficiency
annotated property: definition

lambda 5 deficiency
type: Class
subclass of: DOID 2115
definition: A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
id: DOID:0060024
has_obo_namespace: disease_ontology

Axiom
annotated target: A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
database_cross_reference: url:http://bioinf.uta.fi/IGLL1base/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/3543?
annotated source: lambda 5 deficiency
annotated property: definition

immunoglobulin alpha deficiency
type: Class
subclass of: DOID 2115
definition: A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
id: DOID:0060025
has_exact_synonym: IgA deficiency
database_cross_reference: MSH:D017098
database_cross_reference: OMIM:137100
database_cross_reference: OMIM:269650
database_cross_reference: OMIM:609529
database_cross_reference: ORDO:69127
database_cross_reference: SNOMEDCT_US_2015_03_01:29260007
database_cross_reference: UMLS_CUI:C0162538
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: gamma-A-globulin deficiency
in_subset: DO MGI slim

Axiom
annotated target: A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
database_cross_reference: url:http://bioinf.uta.fi/CD79Abase/
database_cross_reference: url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/973?
annotated source: immunoglobulin alpha deficiency
annotated property: definition

immunoglobulin beta deficiency
type: Class
subclass of: DOID 2115
id: DOID:0060026
has_related_synonym: IgB deficiency
has_obo_namespace: disease_ontology

B cell linker protein deficiency
type: Class
subclass of: DOID 2583
definition: A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
has_exact_synonym: B-cell linker protein deficiency
has_exact_synonym: BLNK deficiency
id: DOID:0060027
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
database_cross_reference: url:http://bioinf.uta.fi/BLNKbase/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/2
annotated source: B cell linker protein deficiency
annotated property: definition

Good syndrome
type: Class
subclass of: DOID 2583
definition: An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
id: DOID:0060028
has_obo_namespace: disease_ontology
has_exact_synonym: thymoma with hypogammaglobulinemia

Axiom
annotated target: An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
database_cross_reference: url:http://en.wikipedia.org/wiki/Good_syndrome
database_cross_reference: url:http://icvts.ctsnetjournals.org/cgi/reprint/9/4/750
annotated source: Good syndrome
annotated property: definition

autoimmune disease of exocrine system
type: Class
subclass of: DOID 417
definition: An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
id: DOID:0060029
has_obo_namespace: disease_ontology

Axiom
annotated target: An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of exocrine system
annotated property: definition

autoimmune disease of eyes, ear, nose and throat
type: Class
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease of the eyes, ears, nose and throat.
id: DOID:0060030
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease of the eyes, ears, nose and throat.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of eyes, ear, nose and throat
annotated property: definition

autoimmune disease of gastrointestinal tract
type: Class
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
id: DOID:0060031
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of gastrointestinal tract
annotated property: definition

autoimmune disease of musculoskeletal system
type: Class
subclass of: DOID 17
subclass of: DOID 417
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
id: DOID:0060032
has_obo_namespace: disease_ontology

Axiom
annotated target: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of musculoskeletal system
annotated property: definition

autoimmune disease of peripheral nervous system
type: Class
subclass of: DOID 438
subclass of: DOID 574
definition: An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
id: DOID:0060033
has_obo_namespace: disease_ontology

Axiom
annotated target: An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of peripheral nervous system
annotated property: definition

medical disorder
type: Class
definition: A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
id: DOID:0060035
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diseases#Disorder
database_cross_reference: url:http://www.medilexicon.com/medicaldictionary.php?t=25959
annotated source: medical disorder
annotated property: definition

intrinsic cardiomyopathy
type: Class
subclass of: cardiomyopathy
definition: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
id: DOID:0060036
has_obo_namespace: disease_ontology

Axiom
annotated target: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
database_cross_reference: url:http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html
annotated source: intrinsic cardiomyopathy
annotated property: definition

developmental disorder of mental health
type: Class
subclass of: DOID 150
definition: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
id: DOID:0060037
has_obo_namespace: disease_ontology

Axiom
annotated target: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
database_cross_reference: url:http://en.wikipedia.org/wiki/Developmental_disorders
annotated source: developmental disorder of mental health
annotated property: definition

specific developmental disorder
type: Class
subclass of: developmental disorder of mental health
definition: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
id: DOID:0060038
has_obo_namespace: disease_ontology

Axiom
annotated target: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
database_cross_reference: url:http://en.wikipedia.org/wiki/Specific_developmental_disorder
annotated source: specific developmental disorder
annotated property: definition

autoimmune disease of skin and connective tissue
type: Class
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
id: DOID:0060039
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of skin and connective tissue
annotated property: definition

pervasive developmental disorder
type: Class
subclass of: developmental disorder of mental health
definition: A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
id: DOID:0060040
has_alternative_id: DOID:1208
database_cross_reference: ICD9CM:299.80
database_cross_reference: UMLS_CUI:C0154451
has_obo_namespace: disease_ontology
has_exact_synonym: pervasive development disorder

Axiom
annotated target: A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/pdd/pdd.htm
annotated source: pervasive developmental disorder
annotated property: definition

autism spectrum disorder
type: Class
subclass of: pervasive developmental disorder
definition: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
id: DOID:0060041
has_obo_namespace: disease_ontology

Axiom
annotated target: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
database_cross_reference: url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder
database_cross_reference: url:www.neurodevnet.ca
annotated source: autism spectrum disorder
annotated property: definition

atypical autism
type: Class
subclass of: autism spectrum disorder
definition: An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
id: DOID:0060042
has_exact_synonym: PDD NOS
has_obo_namespace: disease_ontology

Axiom
annotated target: An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
database_cross_reference: url:http://counsellingresource.com/distress/autistic/autism-atypical.html
database_cross_reference: url:http://www.wisegeek.com/what-is-atypical-autism.htm
database_cross_reference: url:www.neurodevnet.ca
annotated source: atypical autism
annotated property: definition

sexual disorder
type: Class
subclass of: DOID 150
definition: A disease of mental health that involves the impairment in normal sexual functioning.
id: DOID:0060043
has_obo_namespace: disease_ontology

Axiom
annotated target: A disease of mental health that involves the impairment in normal sexual functioning.
database_cross_reference: url:http://allpsych.com/disorders/sexual/index.html
annotated source: sexual disorder
annotated property: definition

paraphilia disorder
type: Class
subclass of: sexual disorder
id: DOID:0060044
has_obo_namespace: disease_ontology

Munchausen by proxy
type: Class
subclass of: DOID 1766
definition: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
id: DOID:0060045
has_obo_namespace: disease_ontology

Axiom
annotated target: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
database_cross_reference: url:http://en.wikipedia.org/wiki/Munchausen_by_proxy
annotated source: Munchausen by proxy
annotated property: definition

aphasia
type: Class
subclass of: DOID 93
definition: A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
id: DOID:0060046
has_obo_namespace: disease_ontology

Axiom
annotated target: A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
database_cross_reference: url:http://en.wikipedia.org/wiki/Aphasia
annotated source: aphasia
annotated property: definition

writing disorder
type: Class
subclass of: DOID 8927
definition: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
id: DOID:0060047
has_obo_namespace: disease_ontology

Axiom
annotated target: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
database_cross_reference: url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities
annotated source: writing disorder
annotated property: definition

nosophobia
type: Class
subclass of: DOID 599
definition: A specific phobia that involves an irrational fear of contracting a disease.
id: DOID:0060048
has_obo_namespace: disease_ontology

Axiom
annotated target: A specific phobia that involves an irrational fear of contracting a disease.
database_cross_reference: url:http://en.wikipedia.org/wiki/Nosophobia
annotated source: nosophobia
annotated property: definition

autoimmune disease of urogenital tract
type: Class
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
id: DOID:0060049
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of urogenital tract
annotated property: definition

autoimmune disease of blood
type: Class
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
id: DOID:0060050
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of blood
annotated property: definition

autoimmune disease of cardiovascular system
type: Class
subclass of: DOID 1287
subclass of: DOID 417
definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
id: DOID:0060051
has_obo_namespace: disease_ontology

Axiom
annotated target: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
database_cross_reference: ls:IEDB
annotated source: autoimmune disease of cardiovascular system
annotated property: definition

neurological disorder
type: Class
definition: A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.
id: DOID:0060052
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.
database_cross_reference: ls:IEDB
annotated source: neurological disorder
annotated property: definition

peripheral neuropathy
type: Class
subclass of: DOID 870
definition: A neuropathy that is located_in nerves of the peripheral nervous system.
id: DOID:0060053
has_obo_namespace: disease_ontology

Axiom
annotated target: A neuropathy that is located_in nerves of the peripheral nervous system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_neuropathy
annotated source: peripheral neuropathy
annotated property: definition

autonomic peripheral neuropathy
type: Class
subclass of: peripheral neuropathy
id: DOID:0060054
has_obo_namespace: disease_ontology

popliteal pterygium syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2015-02-04T14:16:39Z
definition: An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1.
id: DOID:0060055
database_cross_reference: MSH:C562509
comment: NT MGI.
database_cross_reference: OMIM:119500
database_cross_reference: OMIM:263650
database_cross_reference: ORDO:1300
database_cross_reference: ORDO:294963
database_cross_reference: SNOMEDCT_US_2015_03_01:205820002
database_cross_reference: SNOMEDCT_US_2015_03_01:66783006
database_cross_reference: UMLS_CUI:C0265259
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: facio-genito-popliteal syndrome
has_exact_synonym: popliteal web syndrome
in_subset: DO MGI slim

Axiom
annotated target: An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1.
database_cross_reference: ISBN:0-7216-2921-0
database_cross_reference: PMID:2352260
database_cross_reference: PMID:4384166
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome
annotated source: popliteal pterygium syndrome
annotated property: definition

hypersensitivity reaction disease
type: Class
subclass of: DOID 2914
definition: An immune system disease that is caused by abnormal immune responses.
id: DOID:0060056
has_obo_namespace: disease_ontology

Axiom
annotated target: An immune system disease that is caused by abnormal immune responses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypersensitivity
database_cross_reference: url:http://physio.ucsf.edu/GEMS/courses/Immunology/materials/fa13_essential_immunology/090313_hypersensitivity_defranco.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK27136/
annotated source: hypersensitivity reaction disease
annotated property: definition

gluten allergic reaction
type: Class
subclass of: DOID 3044
id: DOID:0060057
has_obo_namespace: disease_ontology

lymphoma
type: Class
subclass of: DOID 2531
definition: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
id: DOID:0060058
has_alternative_id: DOID:1033
has_alternative_id: DOID:353
database_cross_reference: ICD10CM:C85.9
database_cross_reference: MSH:D008223
database_cross_reference: NCI:C3208
database_cross_reference: NCI:C7065
database_cross_reference: SNOMEDCT_US_2015_03_01:115244002
database_cross_reference: SNOMEDCT_US_2015_03_01:118600007
database_cross_reference: SNOMEDCT_US_2015_03_01:134218000
database_cross_reference: SNOMEDCT_US_2015_03_01:188676008
database_cross_reference: SNOMEDCT_US_2015_03_01:188694002
database_cross_reference: SNOMEDCT_US_2015_03_01:188695001
database_cross_reference: SNOMEDCT_US_2015_03_01:188704004
database_cross_reference: SNOMEDCT_US_2015_03_01:189959002
database_cross_reference: SNOMEDCT_US_2015_03_01:189965002
database_cross_reference: SNOMEDCT_US_2015_03_01:21964009
database_cross_reference: SNOMEDCT_US_2015_03_01:269627002
database_cross_reference: SNOMEDCT_US_2015_03_01:414628006
database_cross_reference: UMLS_CUI:C0024299
database_cross_reference: UMLS_CUI:C0598798
has_obo_namespace: disease_ontology
has_exact_synonym: lymphoid cancer
in_subset: DO cancer slim

Axiom
annotated target: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphoma
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/lymphoma.html
annotated source: lymphoma
annotated property: definition

non-Hodgkin lymphoma
type: Class
subclass of: lymphoma
definition: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
id: DOID:0060060
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:605027
has_obo_namespace: disease_ontology

Axiom
annotated target: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
database_cross_reference: url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45148
annotated source: non-Hodgkin lymphoma
annotated property: definition

cutaneous T cell lymphoma
type: Class
subclass of: peripheral T-cell lymphoma
definition: A non-Hodgkin's lymphoma that is caused by a mutation of T cells.
id: DOID:0060061
has_obo_namespace: disease_ontology

Axiom
annotated target: A non-Hodgkin's lymphoma that is caused by a mutation of T cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma
annotated source: cutaneous T cell lymphoma
annotated property: definition

familial juvenile hyperuricemic nephropathy
type: Class
subclass of: DOID 557
definition: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
id: DOID:0060062
database_cross_reference: OMIM:162000
database_cross_reference: OMIM:613092
database_cross_reference: OMIM:614227
database_cross_reference: ORDO:209886
database_cross_reference: ORDO:217330
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21060763
annotated source: familial juvenile hyperuricemic nephropathy
annotated property: definition

X-linked sideroblastic anemia
type: Class
subclass of: DOID 8955
id: DOID:0060063
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:300751
has_exact_synonym: XLSA
has_obo_namespace: disease_ontology

sideroblastic anemia with spinocerebellar ataxia
type: Class
subclass of: DOID 8955
has_exact_synonym: ASAT
id: DOID:0060064
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:310310
has_obo_namespace: disease_ontology

pyridoxine-refractory autosomal recessive sideroblastic anemia
type: Class
subclass of: DOID 8955
id: DOID:0060065
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:205950
has_obo_namespace: disease_ontology

pyridoxine-responsive sideroblastic anemia
type: Class
subclass of: DOID 8955
id: DOID:0060066
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:206000
has_obo_namespace: disease_ontology

Pearson syndrome
type: Class
subclass of: DOID 700
definition: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
id: DOID:0060067
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:557000
has_exact_synonym: Pearson Marrow-Pancreas Syndrome
has_obo_namespace: disease_ontology

Axiom
annotated target: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pearson_syndrome
annotated source: Pearson syndrome
annotated property: definition

marantic endocarditis
type: Class
subclass of: endocarditis
creation date: 2011-04-13T03:14:26Z
definition: An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
id: DOID:0060068
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: non-bacterial thrombotic endocarditis

Axiom
annotated target: An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
database_cross_reference: url:http://en.wikipedia.org/wiki/Marantic_endocarditis
annotated source: marantic endocarditis
annotated property: definition

Bacillus cereus pneumonia
type: Class
creation date: 2011-04-15T11:41:26Z
id: DOID:0060069
has_obo_namespace: disease_ontology
created by: lschriml
deprecated: true

pre-malignant neoplasm
type: Class
subclass of: DOID_14566
creation date: 2011-05-11T12:18:41Z
definition: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
id: DOID:0060071
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
database_cross_reference: url:http://en.wikipedia.org/wiki/Neoplasm
annotated source: pre-malignant neoplasm
annotated property: definition

benign neoplasm
type: Class
subclass of: DOID_14566
creation date: 2011-05-11T12:18:41Z
definition: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
id: DOID:0060072
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
database_cross_reference: url:http://en.wikipedia.org/wiki/Benign_neoplasm
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/benigntumors.html
annotated source: benign neoplasm
annotated property: definition

lymphatic system cancer
type: Class
subclass of: immune system cancer
subclass of: DOID 75
creation date: 2011-05-11T01:05:14Z
definition: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
id: DOID:0060073
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphatic_system
annotated source: lymphatic system cancer
annotated property: definition

ductal carcinoma in situ
type: Class
subclass of: DOID 8791
creation date: 2011-06-08T12:19:28Z
id: DOID:0060074
has_obo_namespace: disease_ontology
created by: lschriml

estrogen-receptor positive breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060075
has_obo_namespace: disease_ontology
created by: lschriml

estrogen-receptor negative breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060076
has_obo_namespace: disease_ontology
created by: lschriml

progesterone-receptor positive breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060077
has_obo_namespace: disease_ontology
created by: lschriml

progesterone-receptor negative breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060078
has_obo_namespace: disease_ontology
created by: lschriml

Her2-receptor positive breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060079
has_obo_namespace: disease_ontology
created by: lschriml

Her2-receptor negative breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060080
has_obo_namespace: disease_ontology
created by: lschriml

triple-receptor negative breast cancer
type: Class
subclass of: DOID 1612
creation date: 2011-06-08T12:23:02Z
id: DOID:0060081
has_obo_namespace: disease_ontology
created by: lschriml

breast benign neoplasm
type: Class
subclass of: thoracic benign neoplasm
subclass of: DOID 3463
creation date: 2011-06-08T01:02:29Z
id: DOID:0060082
has_obo_namespace: disease_ontology
created by: lschriml

immune system cancer
type: Class
subclass of: organ system cancer
subclass of: DOID 2914
creation date: 2011-06-08T01:11:18Z
definition: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
id: DOID:0060083
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Immune_system
annotated source: immune system cancer
annotated property: definition

cell type benign neoplasm
type: Class
subclass of: benign neoplasm
creation date: 2011-07-14T11:59:48Z
definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
id: DOID:0060084
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
database_cross_reference: url:http://en.wikipedia.org/wiki/Benign_tumor
annotated source: cell type benign neoplasm
annotated property: definition

organ system benign neoplasm
type: Class
subclass of: benign neoplasm
subclass of: DOID 7
creation date: 2011-07-14T12:12:23Z
definition: A benign neoplasm that is classified by the organ system from which it is arising from.
id: DOID:0060085
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A benign neoplasm that is classified by the organ system from which it is arising from.
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367
annotated source: organ system benign neoplasm
annotated property: definition

female reproductive organ benign neoplasm
type: Class
subclass of: reproductive organ benign neoplasm
creation date: 2011-07-14T12:20:52Z
id: DOID:0060086
has_obo_namespace: disease_ontology
created by: lschriml

male reproductive organ benign neoplasm
type: Class
subclass of: reproductive organ benign neoplasm
creation date: 2011-07-14T12:20:52Z
id: DOID:0060087
has_obo_namespace: disease_ontology
created by: lschriml

vestibular gland benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
creation date: 2011-07-14T12:36:54Z
id: DOID:0060088
has_obo_namespace: disease_ontology
created by: lschriml

endocrine organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
creation date: 2011-07-14T01:45:15Z
definition: An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
id: DOID:0060089
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocrine_system
annotated source: endocrine organ benign neoplasm
annotated property: definition

central nervous system organ benign neoplasm
type: Class
subclass of: nervous system benign neoplasm
creation date: 2011-07-14T01:45:15Z
id: DOID:0060090
has_obo_namespace: disease_ontology
created by: lschriml

cardiovascular organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
creation date: 2011-07-14T01:45:15Z
definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
id: DOID:0060091
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system
annotated source: cardiovascular organ benign neoplasm
annotated property: definition

immune system organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
creation date: 2011-07-14T01:58:49Z
definition: An organ system benign neoplasm located_in the immune system organs.
id: DOID:0060092
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm located_in the immune system organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Immune_system
annotated source: immune system organ benign neoplasm
annotated property: definition

bone benign neoplasm
type: Class
subclass of: connective tissue benign neoplasm
creation date: 2011-07-15T01:34:59Z
definition: A connective tissue benign neoplasm that is located_in bone.
id: DOID:0060094
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A connective tissue benign neoplasm that is located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bone_tumor
annotated source: bone benign neoplasm
annotated property: definition

uterine benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
creation date: 2011-07-15T01:42:11Z
id: DOID:0060095
has_alternative_id: DOID:0060113
has_obo_namespace: disease_ontology
created by: lschriml

sensory organ benign neoplasm
type: Class
subclass of: nervous system benign neoplasm
creation date: 2011-07-15T01:45:26Z
definition: A nervous system benign neoplasm that is located_in a sensory organ.
id: DOID:0060096
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A nervous system benign neoplasm that is located_in a sensory organ.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system
annotated source: sensory organ benign neoplasm
annotated property: definition

thoracic benign neoplasm
type: Class
subclass of: organ system benign neoplasm
creation date: 2011-07-15T01:55:57Z
definition: An organ system benign neoplam that is located_in the thoracic cavity.
id: DOID:0060097
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplam that is located_in the thoracic cavity.
database_cross_reference: url:http://en.wikipedia.org/wiki/Thoracic_cavity
annotated source: thoracic benign neoplasm
annotated property: definition

osteoblastoma
type: Class
subclass of: bone benign neoplasm
creation date: 2011-07-15T02:14:40Z
id: DOID:0060098
has_obo_namespace: disease_ontology
created by: lschriml

musculoskeletal system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: DOID 17
creation date: 2011-07-15T02:28:52Z
definition: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
id: DOID:0060099
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Musculoskeletal_system
annotated source: musculoskeletal system benign neoplasm
annotated property: definition

musculoskeletal system cancer
type: Class
subclass of: organ system cancer
subclass of: DOID 17
creation date: 2011-07-15T02:30:51Z
definition: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
id: DOID:0060100
has_alternative_id: DOID:0060124
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: skeletal system cancer

Axiom
annotated target: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders
annotated source: musculoskeletal system cancer
annotated property: definition

benign glioma
type: Class
subclass of: cell type benign neoplasm
creation date: 2011-07-19T01:27:04Z
definition: A cell type benign neoplasm that has_material_basis_in glial cells.
id: DOID:0060101
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A cell type benign neoplasm that has_material_basis_in glial cells.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45700
annotated source: benign glioma
annotated property: definition

cartilage cancer
type: Class
subclass of: DOID 201
creation date: 2011-07-20T01:40:49Z
id: DOID:0060102
has_obo_namespace: disease_ontology
created by: lschriml

central nervous system primitive neuroectodermal neoplasm
type: Class
subclass of: DOID 171
subclass of: DOID 3620
creation date: 2011-07-21T02:24:10Z
id: DOID:0060103
has_obo_namespace: disease_ontology
created by: lschriml

cerebellar medulloblastoma
type: Class
subclass of: DOID 4205
creation date: 2011-07-21T02:28:01Z
definition: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
id: DOID:0060104
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma
annotated source: cerebellar medulloblastoma
annotated property: definition

brain meningioma
type: Class
subclass of: DOID 1319
subclass of: DOID 3565
creation date: 2011-07-21T05:39:28Z
id: DOID:0060106
has_obo_namespace: disease_ontology
created by: lschriml

brain glioma
type: Class
subclass of: DOID 1319
subclass of: DOID 3070
creation date: 2011-07-22T12:42:50Z
definition: A brain cancer that has_material_basis_in glial cells.
id: DOID:0060108
has_obo_namespace: disease_ontology
has_exact_synonym: lower grade glioma
created by: lschriml
in_subset: DO cancer slim

Axiom
annotated target: A brain cancer that has_material_basis_in glial cells.
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45700
annotated source: brain glioma
annotated property: definition

vulvar benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
creation date: 2011-07-25T11:50:50Z
id: DOID:0060109
has_obo_namespace: disease_ontology
created by: lschriml

cervical benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
creation date: 2011-07-25T11:50:50Z
id: DOID:0060110
has_obo_namespace: disease_ontology
created by: lschriml

fallopian tube benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
subclass of: DOID 1962
creation date: 2011-07-25T11:50:50Z
id: DOID:0060111
has_obo_namespace: disease_ontology
created by: lschriml

ovarian benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
creation date: 2011-07-25T11:50:50Z
id: DOID:0060112
has_obo_namespace: disease_ontology
created by: lschriml

vaginal benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
creation date: 2011-07-25T11:50:50Z
id: DOID:0060114
has_obo_namespace: disease_ontology
created by: lschriml

nervous system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: DOID 863
creation date: 2011-07-25T12:47:43Z
definition: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
id: DOID:0060115
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Nervous_system
annotated source: nervous system benign neoplasm
annotated property: definition

sensory system cancer
type: Class
subclass of: sensory system disease
subclass of: DOID 3093
creation date: 2011-07-25T01:51:56Z
definition: A nervous system cancer that is located_in the sensory system.
id: DOID:0060116
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A nervous system cancer that is located_in the sensory system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system
annotated source: sensory system cancer
annotated property: definition

peritoneal benign neoplasm
type: Class
subclass of: organ system benign neoplasm
creation date: 2011-07-25T02:20:33Z
definition: An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
id: DOID:0060117
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
database_cross_reference: url:http://en.wikipedia.org/wiki/Peritoneal
annotated source: peritoneal benign neoplasm
annotated property: definition

thoracic disease
type: Class
subclass of: DOID 7
creation date: 2011-07-25T02:23:47Z
definition: A disease of anatomical entity that is located_in the thoracic cavity.
id: DOID:0060118
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A disease of anatomical entity that is located_in the thoracic cavity.
database_cross_reference: url:http://en.wikipedia.org/wiki/Thoracic_cavity
annotated source: thoracic disease
annotated property: definition

pharynx cancer
type: Class
subclass of: DOID 3119
creation date: 2011-07-27T01:26:34Z
definition: A gastrointestinal system cancer that is located_in the pharynx.
id: DOID:0060119
database_cross_reference: MSH:D010610
database_cross_reference: NCI:C3325
database_cross_reference: SNOMEDCT_US_2015_03_01:126685009
database_cross_reference: SNOMEDCT_US_2015_03_01:95001001
database_cross_reference: UMLS_CUI:C0031347
has_obo_namespace: disease_ontology
created by: lschriml
has_related_synonym: pharyngeal cancer
has_exact_synonym: pharyngeal neoplasm
has_exact_synonym: pharynx neoplasm
in_subset: TopNodes DOcancerslim

Axiom
annotated target: A gastrointestinal system cancer that is located_in the pharynx.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pharynx
annotated source: pharynx cancer
annotated property: definition

skeletal system benign neoplasm
type: Class
creation date: 2011-07-27T01:46:00Z
id: DOID:0060120
has_obo_namespace: disease_ontology
created by: lschriml
deprecated: true

integumentary system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: DOID 16
creation date: 2011-07-27T01:49:44Z
definition: An organ system benign neoplasm located_in the integumentary system organs.
id: DOID:0060121
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system benign neoplasm located_in the integumentary system organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Integumentary_system
annotated source: integumentary system benign neoplasm
annotated property: definition

integumentary system cancer
type: Class
subclass of: organ system cancer
subclass of: DOID 16
creation date: 2011-07-27T02:31:34Z
definition: An organ system cancer that is located_in the skin, hair and nails.
id: DOID:0060122
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An organ system cancer that is located_in the skin, hair and nails.
database_cross_reference: url:http://en.wikipedia.org/wiki/Integumentary_system
annotated source: integumentary system cancer
annotated property: definition

connective tissue benign neoplasm
type: Class
subclass of: musculoskeletal system benign neoplasm
subclass of: DOID 65
creation date: 2011-07-27T02:35:57Z
definition: A musculoskeletal system benign neoplasm that is located_in connective tissue.
id: DOID:0060123
has_alternative_id: DOID:177
database_cross_reference: MSH:D012983
database_cross_reference: NCI:C3377
database_cross_reference: SNOMEDCT_US_2015_03_01:126600002
database_cross_reference: SNOMEDCT_US_2015_03_01:387837005
database_cross_reference: UMLS_CUI:C0037579
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: neoplasm of soft tissue (disorder)
has_exact_synonym: neoplasm of soft tissues (disorder)
has_exact_synonym: soft tissue benign neoplasm
has_exact_synonym: tumor of the soft tissue

Axiom
annotated target: A musculoskeletal system benign neoplasm that is located_in connective tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm
annotated source: connective tissue benign neoplasm
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:126600002
annotated target: neoplasm of soft tissues (disorder)
annotated source: connective tissue benign neoplasm
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:387837005
annotated target: neoplasm of soft tissue (disorder)
annotated source: connective tissue benign neoplasm
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3377
annotated target: tumor of the soft tissue
annotated source: connective tissue benign neoplasm
annotated property: has_exact_synonym

heavy chain disease
type: Class
subclass of: DOID 2916
creation date: 2011-08-22T11:23:09Z
definition: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
id: DOID:0060125
database_cross_reference: ICD10CM:C88.2
database_cross_reference: MSH:D006362
database_cross_reference: NCI:C3082
database_cross_reference: NCI:C3083
database_cross_reference: NCI:C3892
database_cross_reference: SNOMEDCT_US_2015_03_01:109984001
database_cross_reference: SNOMEDCT_US_2015_03_01:123062004
database_cross_reference: SNOMEDCT_US_2015_03_01:190011009
database_cross_reference: SNOMEDCT_US_2015_03_01:190820001
database_cross_reference: SNOMEDCT_US_2015_03_01:5440009
database_cross_reference: SNOMEDCT_US_2015_03_01:61493004
database_cross_reference: SNOMEDCT_US_2015_03_01:6381009
database_cross_reference: SNOMEDCT_US_2015_03_01:68979007
database_cross_reference: UMLS_CUI:C0018852
database_cross_reference: UMLS_CUI:C0018854
database_cross_reference: UMLS_CUI:C0242310
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated source: heavy chain disease
annotated property: definition

alpha chain disease
type: Class
subclass of: heavy chain disease
creation date: 2011-08-22T11:23:09Z
definition: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
id: DOID:0060126
has_exact_synonym: Seligmann's disease
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated source: alpha chain disease
annotated property: definition

gamma heavy chain disease
type: Class
subclass of: heavy chain disease
creation date: 2011-08-22T11:23:09Z
definition: A heavy chain disease that results from an overproduction of gamma antibody (IgG).
id: DOID:0060127
has_exact_synonym: Franklin's disease
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heavy chain disease that results from an overproduction of gamma antibody (IgG).
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx
annotated source: gamma heavy chain disease
annotated property: definition

mu chain disease
type: Class
subclass of: heavy chain disease
creation date: 2011-08-22T11:23:09Z
definition: A heavy chain disease that results from an overproduction of mu antibody (IgM).
id: DOID:0060128
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heavy chain disease that results from an overproduction of mu antibody (IgM).
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated source: mu chain disease
annotated property: definition

delta chain disease
type: Class
subclass of: heavy chain disease
creation date: 2011-08-22T11:23:09Z
definition: A heavy chain disease that results from an overproduction of delta antibody (IgD).
id: DOID:0060129
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A heavy chain disease that results from an overproduction of delta antibody (IgD).
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated source: delta chain disease
annotated property: definition

akinetopsia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of motion perception.
id: DOID:0060130
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of motion perception.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: akinetopsia
annotated property: definition

alexithymia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a deficiency in understanding, processing, or describing emotions.
id: DOID:0060131
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a deficiency in understanding, processing, or describing emotions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: alexithymia
annotated property: definition

amusia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
id: DOID:0060132
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: receptive amusia

Axiom
annotated target: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: amusia
annotated property: definition

anosognosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
id: DOID:0060133
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: anosognosia
annotated property: definition

apperceptive agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to distinguish visual shapes.
id: DOID:0060134
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to distinguish visual shapes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: apperceptive agnosia
annotated property: definition

apraxia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
id: DOID:0060135
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: apraxia
annotated property: definition

associative agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
id: DOID:0060136
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: associative agnosia
annotated property: definition

auditory agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
id: DOID:0060137
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: auditory agnosia
annotated property: definition

autotopagnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to orient parts of the body.
id: DOID:0060138
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to orient parts of the body.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: autotopagnosia
annotated property: definition

color agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
id: DOID:0060139
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: color agnosia
annotated property: definition

cortical deafness
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
id: DOID:0060140
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: cortical deafness
annotated property: definition

finger agnosia
type: Class
subclass of: DOID 4090
subclass of: DOID 7
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
id: DOID:0060141
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: finger agnosia
annotated property: definition

form agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
id: DOID:0060142
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: form agnosia
annotated property: definition

integrative agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
id: DOID:0060143
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: integrative agnosia
annotated property: definition

mirror agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
id: DOID:0060144
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: mirror agnosia
annotated property: definition

pain agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to perceive and process pain.
id: DOID:0060145
has_exact_synonym: analgesia
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to perceive and process pain.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: pain agnosia
annotated property: definition

phonagnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognize familiar voices.
id: DOID:0060146
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to recognize familiar voices.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: phonagnosia
annotated property: definition

semantic agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
id: DOID:0060147
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: semantic agnosia
annotated property: definition

simultanagnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
id: DOID:0060148
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: simultanagnosia
annotated property: definition

social emotional agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
id: DOID:0060149
has_obo_namespace: disease_ontology
has_exact_synonym: expressive agnosia
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: social emotional agnosia
annotated property: definition

astereognosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
id: DOID:0060150
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: somatosensory agnosia

Axiom
annotated target: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: astereognosia
annotated property: definition

tactile agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
id: DOID:0060151
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: tactile agnosia
annotated property: definition

time agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to comprehend the succession and duration of events.
id: DOID:0060152
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to comprehend the succession and duration of events.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: time agnosia
annotated property: definition

topographical agnosia
type: Class
subclass of: visual agnosia
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
id: DOID:0060153
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: topographical agnosia
annotated property: definition

verbal auditory agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
id: DOID:0060154
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: verbal auditory agnosia
annotated property: definition

visual agnosia
type: Class
subclass of: DOID 4090
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to visually recognize objects.
id: DOID:0060155
database_cross_reference: MSH:C531604
database_cross_reference: UMLS_CUI:C2930796
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to visually recognize objects.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: visual agnosia
annotated property: definition

visual verbal agnosia
type: Class
subclass of: visual agnosia
creation date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to comprehending the meaning of written words.
id: DOID:0060156
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An agnosia that is a loss of the ability to comprehending the meaning of written words.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated source: visual verbal agnosia
annotated property: definition

diffuse alopecia areata
type: Class
subclass of: DOID 986
creation date: 2011-08-22T03:45:02Z
definition: An alopecia areata that involves diffuse loss of hair over the whole scalp.
id: DOID:0060157
database_cross_reference: MSH:C531609
database_cross_reference: SNOMEDCT_US_2015_03_01:201138007
database_cross_reference: SNOMEDCT_US_2015_03_01:403331000
database_cross_reference: UMLS_CUI:C0406458
database_cross_reference: UMLS_CUI:C1274706
database_cross_reference: UMLS_CUI:C1862862
database_cross_reference: UMLS_CUI:C2936778
database_cross_reference: UMLS_CUI:C3179487
database_cross_reference: UMLS_CUI:C3179488
database_cross_reference: UMLS_CUI:C3179489
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An alopecia areata that involves diffuse loss of hair over the whole scalp.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alopecia_areata
annotated source: diffuse alopecia areata
annotated property: definition

acquired metabolic disease
type: Class
subclass of: disease of metabolism
creation date: 2011-08-24T02:53:03Z
definition: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
id: DOID:0060158
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
database_cross_reference: url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/mesh/68008659
annotated source: acquired metabolic disease
annotated property: definition

organic acidemia
type: Class
subclass of: DOID 9252
creation date: 2011-08-26T11:17:14Z
definition: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
id: DOID:0060159
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: organic acid metabolism disorder
has_exact_synonym: organic aciduria

Axiom
annotated target: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
database_cross_reference: url:http://en.wikipedia.org/wiki/Aciduria
annotated source: organic acidemia
annotated property: definition

survival motor neuron spinal muscular atrophy
type: Class
subclass of: DOID_12377
creation date: 2011-08-29T01:15:14Z
definition: A spinal muscular atrophy that is associated with the survival of motor neuron protein.
id: DOID:0060160
database_cross_reference: ICD10CM:G12.0
database_cross_reference: ICD9CM:335.0
database_cross_reference: ICD9CM:335.11
database_cross_reference: MSH:D014897
database_cross_reference: NCI:C85076
database_cross_reference: NCI:C98670
database_cross_reference: SNOMEDCT_US_2015_03_01:128212001
database_cross_reference: SNOMEDCT_US_2015_03_01:155016008
database_cross_reference: SNOMEDCT_US_2015_03_01:267694009
database_cross_reference: SNOMEDCT_US_2015_03_01:54280009
database_cross_reference: SNOMEDCT_US_2015_03_01:64383006
database_cross_reference: UMLS_CUI:C0043116
database_cross_reference: UMLS_CUI:C0152109
database_cross_reference: UMLS_CUI:C0393538
database_cross_reference: UMLS_CUI:C0700595
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: spinal muscular atrophies of childhood

Axiom
annotated target: A spinal muscular atrophy that is associated with the survival of motor neuron protein.
database_cross_reference: url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy
annotated source: survival motor neuron spinal muscular atrophy
annotated property: definition

Kennedy's disease
type: Class
subclass of: DOID_12377
creation date: 2011-08-29T01:31:03Z
definition: A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
id: DOID:0060161
has_exact_synonym: Kennedy disease
database_cross_reference: MSH:D055534
database_cross_reference: NCI:C85233
database_cross_reference: OMIM:313200
has_exact_synonym: SBMA
database_cross_reference: SNOMEDCT_US_2015_03_01:230253001
has_exact_synonym: Spinobulbar Muscular Atrophy
database_cross_reference: UMLS_CUI:C1839259
has_exact_synonym: X-Linked Bulbo-Spinal Atrophy
has_exact_synonym: X-linked Spinal and Bulbar Muscular Atrophy
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: spinal bulbar muscular atrophy

Axiom
annotated target: A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
database_cross_reference: url:http://en.wikipedia.org/wiki/Kennedy_disease
annotated source: Kennedy's disease
annotated property: definition

dentatorubral-pallidoluysian atrophy
type: Class
subclass of: DOID 1441
creation date: 2011-08-29T01:41:48Z
definition: An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
id: DOID:0060162
has_exact_synonym: DRPLA
has_exact_synonym: Haw River Syndrome
database_cross_reference: MSH:D020191
database_cross_reference: NCI:C7636
has_exact_synonym: Naito-Oyanagi disease
database_cross_reference: OMIM:125370
database_cross_reference: SNOMEDCT_US_2015_03_01:192844008
database_cross_reference: SNOMEDCT_US_2015_03_01:267581004
database_cross_reference: SNOMEDCT_US_2015_03_01:68116008
database_cross_reference: SNOMEDCT_US_2015_03_01:702422004
database_cross_reference: SNOMEDCT_US_2015_03_01:89480000
database_cross_reference: UMLS_CUI:C0751776
database_cross_reference: UMLS_CUI:C0751777
database_cross_reference: UMLS_CUI:C0751778
database_cross_reference: UMLS_CUI:C0751779
database_cross_reference: UMLS_CUI:C0751780
database_cross_reference: UMLS_CUI:C0751781
database_cross_reference: UMLS_CUI:C0751782
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy
annotated source: dentatorubral-pallidoluysian atrophy
annotated property: definition

body dysmorphic disorder
type: Class
subclass of: DOID 4737
creation date: 2011-09-07T01:38:34Z
definition: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
id: DOID:0060163
has_exact_synonym: body dysmorphia
has_obo_namespace: disease_ontology
has_exact_synonym: dysmorphic syndrome
has_exact_synonym: dysmorphophobia
created by: lschriml

Axiom
annotated target: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
database_cross_reference: url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder
annotated source: body dysmorphic disorder
annotated property: definition

pain disorder
type: Class
subclass of: DOID 4737
creation date: 2011-09-07T01:42:46Z
definition: A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
id: DOID:0060164
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pain_disorder
annotated source: pain disorder
annotated property: definition

Kleine-Levin syndrome
type: Class
subclass of: DOID 8619
creation date: 2011-09-07T02:46:02Z
definition: A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
id: DOID:0060165
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
database_cross_reference: url:http://en.wikipedia.org/wiki/Kleine-Levin_syndrome
annotated source: Kleine-Levin syndrome
annotated property: definition

bipolar ll disorder
type: Class
subclass of: DOID 3312
creation date: 2011-09-09T02:27:46Z
definition: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
id: DOID:0060166
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bipolar_II
annotated source: bipolar ll disorder
annotated property: definition

seasonal affective disorder
type: Class
subclass of: DOID 1596
creation date: 2011-09-09T02:53:18Z
definition: A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
id: DOID:0060167
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: winter depression

Axiom
annotated target: A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
database_cross_reference: url:http://en.wikipedia.org/wiki/Seasonal_affective_disorder
annotated source: seasonal affective disorder
annotated property: definition

histidinemia
type: Class
subclass of: DOID 9265
creation date: 2011-09-20T12:47:05Z
definition: A histidine metabolism disease that involves a deficiency of the enzyme histidase.
id: DOID:0060168
has_obo_namespace: disease_ontology
has_exact_synonym: histidinuria
created by: lschriml

Axiom
annotated target: A histidine metabolism disease that involves a deficiency of the enzyme histidase.
database_cross_reference: url:http://en.wikipedia.org/wiki/Histidinemia
annotated source: histidinemia
annotated property: definition

benign familial infantile epilepsy
type: Class
subclass of: infancy electroclinical syndrome
creation date: 2011-10-28T02:55:02Z
definition: An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
has_exact_synonym: BFIC
has_exact_synonym: BFIE
id: DOID:0060169
database_cross_reference: OMIM:601764
database_cross_reference: OMIM:605751
database_cross_reference: OMIM:607745
database_cross_reference: OMIM:612627
database_cross_reference: ORDO:306
comment: Xref MGI.
has_exact_synonym: benign familial infantile convulsion
has_exact_synonym: benign familial infantile seizures
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/12503648
annotated source: benign familial infantile epilepsy
annotated property: definition

generalized epilepsy with febrile seizures plus
type: Class
subclass of: DOID 1827
creation date: 2011-10-28T02:57:50Z
definition: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
id: DOID:0060170
has_exact_synonym: GEFS+
database_cross_reference: ICD10CM:G40.3
database_cross_reference: OMIM:604233
database_cross_reference: OMIM:604403
database_cross_reference: OMIM:609800
database_cross_reference: OMIM:611277
database_cross_reference: OMIM:612279
database_cross_reference: OMIM:613828
database_cross_reference: OMIM:613863
database_cross_reference: ORDO:36387
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22011963
annotated source: generalized epilepsy with febrile seizures plus
annotated property: definition

Dravet Syndrome
type: Class
subclass of: infancy electroclinical syndrome
creation date: 2011-10-28T03:14:46Z
definition: An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.
id: DOID:0060171
database_cross_reference: OMIM:607208
has_exact_synonym: SMEI
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: severe myoclonic epilepsy in infancy

Axiom
annotated target: An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.
database_cross_reference: url:http://dravet.org/about-dravet/smei
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm
annotated source: Dravet Syndrome
annotated property: definition

juvenile absence epilepsy
type: Class
subclass of: adolescence-adult electroclinical syndrome
creation date: 2011-11-08T10:42:18Z
definition: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
id: DOID:0060172
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
database_cross_reference: JA:Epilepsy Genetics Kiel
database_cross_reference: url:http://www.ilae-epilepsy.org
annotated source: juvenile absence epilepsy
annotated property: definition

Timothy syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2011-11-08T12:52:33Z
definition: An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
id: DOID:0060173
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1403/
annotated source: Timothy syndrome
annotated property: definition

GABA aminotransferase deficiency
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
creation date: 2011-11-08T01:52:22Z
definition: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
id: DOID:0060174
has_exact_synonym: Gamma-amino butyric acid transaminase deficiency
database_cross_reference: OMIM:613163
has_obo_namespace: disease_ontology
has_exact_synonym: gamma-aminobutyric acid transaminase deficiency
created by: lschriml

Axiom
annotated target: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
database_cross_reference: url:http://pathman.smpdb.ca/pathways/SMP00351/pathway
database_cross_reference: url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf
annotated source: GABA aminotransferase deficiency
annotated property: definition

succinic semialdehyde dehydrogenase deficiency
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
creation date: 2011-11-08T02:02:12Z
has_exact_synonym: 4-hydroxybutyric aciduria
definition: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
id: DOID:0060175
has_exact_synonym: SSADH
has_obo_namespace: disease_ontology
has_exact_synonym: gamma-hydroxybutyric aciduria
created by: lschriml

Axiom
annotated target: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
database_cross_reference: url:http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism
annotated source: succinic semialdehyde dehydrogenase deficiency
annotated property: definition

gamma-amino butyric acid metabolism disorder
type: Class
subclass of: DOID 9252
creation date: 2011-11-08T02:02:12Z
definition: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
id: DOID:0060176
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/12891648
annotated source: gamma-amino butyric acid metabolism disorder
annotated property: definition

homocarnosinosis
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
creation date: 2011-11-08T02:02:12Z
definition: A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
id: DOID:0060177
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carnosinemia
database_cross_reference: url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf
annotated source: homocarnosinosis
annotated property: definition

familial hemiplegic migraine
type: Class
subclass of: migraine with aura
creation date: 2011-11-08T02:54:32Z
definition: A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
id: DOID:0060178
database_cross_reference: ICD10CM:G43.8
database_cross_reference: ICD9CM:346.8
database_cross_reference: OMIM:141500
database_cross_reference: OMIM:300125
database_cross_reference: OMIM:602481
database_cross_reference: OMIM:607516
database_cross_reference: OMIM:609634
database_cross_reference: ORDO:569
database_cross_reference: SNOMEDCT_US_2015_03_01:193037008
database_cross_reference: SNOMEDCT_US_2015_03_01:193040008
database_cross_reference: SNOMEDCT_US_2015_03_01:194493009
database_cross_reference: UMLS_CUI:C0477373
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Axiom
annotated target: A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine
annotated source: familial hemiplegic migraine
annotated property: definition

Renpenning syndrome
type: Class
subclass of: syndromic intellectual disability
creation date: 2011-11-08T03:21:30Z
definition: An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
id: DOID:0060179
database_cross_reference: OMIM:309500
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
database_cross_reference: url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome
annotated source: Renpenning syndrome
annotated property: definition

colitis
type: Class
subclass of: inflammatory bowel disease
creation date: 2014-09-12T14:31:45Z
definition: An inflammatory bowel disease that involves inflammation located_in colon.
id: DOID:0060180
database_cross_reference: EFO:0003872
database_cross_reference: ICD10CM:K52.9
database_cross_reference: MSH:D003092
database_cross_reference: NCI:C26723
database_cross_reference: OMIM:191390
database_cross_reference: SNOMEDCT:64226004
database_cross_reference: SNOMEDCT_US_2015_03_01:64226004
database_cross_reference: UMLS_CUI:C0009319
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An inflammatory bowel disease that involves inflammation located_in colon.
database_cross_reference: url:http://en.wikipedia.org/wiki/Colitis
annotated source: colitis
annotated property: definition

ischemic colitis
type: Class
subclass of: colitis
creation date: 2014-09-12T14:36:51Z
definition: A colitis caused_by inadequate blood supply to the colon.
database_cross_reference: CTV3:X303v
id: DOID:0060181
database_cross_reference: ICD10CM:K55.9
database_cross_reference: MSH:D017091
database_cross_reference: SNOMEDCT:30588004
database_cross_reference: SNOMEDCT_US_2015_03_01:30588004
database_cross_reference: UMLS_CUI:C0162529
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A colitis caused_by inadequate blood supply to the colon.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ischemic_colitis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677
annotated source: ischemic colitis
annotated property: definition

microscopic colitis
type: Class
subclass of: colitis
creation date: 2014-09-12T14:49:18Z
definition: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
database_cross_reference: CTV3:X303w
id: DOID:0060182
database_cross_reference: MSH:D046728
database_cross_reference: NCI:C38504
database_cross_reference: ORDO:58220
database_cross_reference: SNOMEDCT:235753003
database_cross_reference: SNOMEDCT_US_2015_03_01:235753003
database_cross_reference: UMLS_CUI:C0400821
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
database_cross_reference: url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx
database_cross_reference: url:http://en.wikipedia.org/wiki/Microscopic_colitis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232
annotated source: microscopic colitis
annotated property: definition

collagenous colitis
type: Class
subclass of: microscopic colitis
creation date: 2014-09-12T14:56:28Z
definition: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
id: DOID:0060183
comment: Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.
database_cross_reference: ICD10CM:K52.89
database_cross_reference: MEDDRA:10048928
database_cross_reference: MSH:D046729
database_cross_reference: NCI:C27021
database_cross_reference: SNOMEDCT:19311003
database_cross_reference: SNOMEDCT_US_2015_03_01:19311003
database_cross_reference: UMLS_CUI:C0238067
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
database_cross_reference: url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx
database_cross_reference: url:http://en.wikipedia.org/wiki/Collagenous_colitis
annotated source: collagenous colitis
annotated property: definition

lymphocytic colitis
type: Class
subclass of: microscopic colitis
creation date: 2014-09-12T14:58:50Z
definition: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
id: DOID:0060184
database_cross_reference: ICD10CM:K52.89
database_cross_reference: MEDDRA:10025268
database_cross_reference: MSH:D046730
database_cross_reference: NCI:C27147
database_cross_reference: ORDO:65279
database_cross_reference: SNOMEDCT_US_2015_03_01:31437008
comment: The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.
database_cross_reference: UMLS_CUI:C0400822
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
database_cross_reference: url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphocytic_colitis
annotated source: lymphocytic colitis
annotated property: definition

Clostridium difficile colitis
type: Class
subclass of: colitis
creation date: 2014-09-12T15:01:17Z
definition: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
id: DOID:0060185
database_cross_reference: ICD10CM:A04.7
database_cross_reference: MEDDRA:10009657
database_cross_reference: MSH:D004761
has_exact_synonym: Pseudomembranous colitis
database_cross_reference: SNOMEDCT:423590009
database_cross_reference: SNOMEDCT_US_2015_03_01:155783000
database_cross_reference: SNOMEDCT_US_2015_03_01:197019008
database_cross_reference: SNOMEDCT_US_2015_03_01:197033008
database_cross_reference: SNOMEDCT_US_2015_03_01:197124009
database_cross_reference: SNOMEDCT_US_2015_03_01:235752008
database_cross_reference: SNOMEDCT_US_2015_03_01:266525002
database_cross_reference: SNOMEDCT_US_2015_03_01:397683000
database_cross_reference: SNOMEDCT_US_2015_03_01:397696004
database_cross_reference: SNOMEDCT_US_2015_03_01:51180003
database_cross_reference: UMLS_CUI:C0014358
database_cross_reference: UMLS_CUI:C0085819
database_cross_reference: UMLS_CUI:C1257843
database_cross_reference: UMLS_CUI:C1257844
database_cross_reference: UMLS_CUI:C1257845
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: MSH:D004761
annotated target: Pseudomembranous colitis
annotated source: Clostridium difficile colitis
annotated property: has_exact_synonym

Axiom
annotated target: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
database_cross_reference: url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm
annotated source: Clostridium difficile colitis
annotated property: definition

chemical colitis
type: Class
subclass of: colitis
creation date: 2014-09-12T15:08:50Z
definition: A colitis caused_by introduction of various chemicals.
id: DOID:0060186
database_cross_reference: ICD10CM:K52
database_cross_reference: ICD9CM:558
database_cross_reference: ICD9CM:558.9
database_cross_reference: SNOMEDCT:72965009
database_cross_reference: UMLS_CUI:C0029512
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A colitis caused_by introduction of various chemicals.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chemical_colitis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/18209577
annotated source: chemical colitis
annotated property: definition

diversion colitis
type: Class
subclass of: colitis
creation date: 2014-09-12T15:14:29Z
definition: A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
id: DOID:0060187
database_cross_reference: ICD10CM:K52
database_cross_reference: ICD9CM:558
database_cross_reference: ICD9CM:558.9
database_cross_reference: SNOMEDCT:51290000
database_cross_reference: UMLS_CUI:C0029512
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diversion_colitis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/1916483
annotated source: diversion colitis
annotated property: definition

jejunoileitis
type: Class
subclass of: DOID 8778
creation date: 2014-09-15T10:51:02Z
definition: An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
id: DOID:0060188
database_cross_reference: ICD10CM:K50.0
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
database_cross_reference: url:http://en.wikipedia.org/wiki/Crohn%27s_disease
database_cross_reference: url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15973125
annotated source: jejunoileitis
annotated property: definition

ileitis
type: Class
subclass of: DOID 8778
creation date: 2014-09-15T11:40:07Z
definition: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
database_cross_reference: CSP:1248-5305
database_cross_reference: CTV3:X302s
has_exact_synonym: Crohn's ileitis
id: DOID:0060189
database_cross_reference: ICD10CM:K52.9
database_cross_reference: MEDDRA:10021312
database_cross_reference: MSH:D007079
database_cross_reference: NCI:C84782
database_cross_reference: NDFRT:N0000001662
database_cross_reference: SNOMEDCT:52457000
database_cross_reference: SNOMEDCT_US_2015_03_01:52457000
database_cross_reference: UMLS_CUI:C0020877
database_cross_reference: WHO:1316
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ileitis
database_cross_reference: url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html
annotated source: ileitis
annotated property: definition

ileocolitis
type: Class
subclass of: DOID 8778
creation date: 2014-09-15T12:22:19Z
definition: An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
id: DOID:0060190
database_cross_reference: ICD10CM:K52.9
database_cross_reference: MEDDRA:10062647
comment: OWL classification.
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
database_cross_reference: url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html
annotated source: ileocolitis
annotated property: definition

gastroduodenal Crohn's disease
type: Class
subclass of: DOID 8778
creation date: 2014-09-15T12:35:28Z
definition: An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
id: DOID:0060191
database_cross_reference: ICD10CM:K50.0
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: upper GI Crohn's disease

Axiom
annotated target: An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
database_cross_reference: url:http://en.wikipedia.org/wiki/Crohn%27s_disease
database_cross_reference: url:http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx
database_cross_reference: url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/12769447
annotated source: gastroduodenal Crohn's disease
annotated property: definition

Crohn's colitis
type: Class
subclass of: DOID 8778
creation date: 2014-09-15T12:50:24Z
definition: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
id: DOID:0060192
database_cross_reference: ICD10CM:K50.911
database_cross_reference: ICD10CM:K50.913
database_cross_reference: ICD10CM:K50.914
comment: OWL classification.
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Crohn%27s_disease
database_cross_reference: url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html
annotated source: Crohn's colitis
annotated property: definition

amyotrophic lateral sclerosis type 1
type: Class
subclass of: DOID 332
creation date: 2014-09-16T13:04:32Z
has_exact_synonym: ALS1
id: DOID:0060193
database_cross_reference: OMIM:105400
definition: The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
has_exact_synonym: amyotrophic lateral sclerosis 1
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS1
database_cross_reference: OMIM:105400
annotated source: amyotrophic lateral sclerosis type 1
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:105400
annotated target: amyotrophic lateral sclerosis 1
annotated source: amyotrophic lateral sclerosis type 1
annotated property: has_exact_synonym

Axiom
annotated target: The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
annotated source: amyotrophic lateral sclerosis type 1
annotated property: definition

amyotrophic lateral sclerosis type 2
type: Class
subclass of: DOID 332
creation date: 2014-09-16T13:12:14Z
definition: A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
has_exact_synonym: ALS2
id: DOID:0060194
database_cross_reference: OMIM:205100
has_exact_synonym: amyotrophic lateral sclerosis 2
has_exact_synonym: amyotrophic lateral sclerosis 2, juvenile
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:205100
annotated target: amyotrophic lateral sclerosis 2, juvenile
annotated source: amyotrophic lateral sclerosis type 2
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIMl:205100
annotated target: amyotrophic lateral sclerosis 2
annotated source: amyotrophic lateral sclerosis type 2
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/205100
annotated source: amyotrophic lateral sclerosis type 2
annotated property: definition

Axiom
annotated target: ALS2
database_cross_reference: OMIM:205100
annotated source: amyotrophic lateral sclerosis type 2
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 3
type: Class
subclass of: DOID 332
creation date: 2014-09-16T13:18:38Z
definition: A type of ALS with loci associated with the disease located_in chromosome 18.
has_related_synonym: ALS3
id: DOID:0060195
database_cross_reference: OMIM:606640
has_exact_synonym: amyotrophic lateral sclerosis 3
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:606640
annotated target: amyotrophic lateral sclerosis 3
annotated source: amyotrophic lateral sclerosis type 3
annotated property: has_exact_synonym

Axiom
annotated target: ALS3
database_cross_reference: OMIM:606640
annotated source: amyotrophic lateral sclerosis type 3
annotated property: has_related_synonym

Axiom
annotated target: A type of ALS with loci associated with the disease located_in chromosome 18.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/606640
annotated source: amyotrophic lateral sclerosis type 3
annotated property: definition

amyotrophic lateral sclerosis type 4
type: Class
subclass of: DOID 332
creation date: 2014-09-16T13:49:59Z
definition: A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
has_exact_synonym: ALS 4
id: DOID:0060196
database_cross_reference: OMIM:602433
database_cross_reference: ORDO:357043
has_exact_synonym: amyotrophic lateral sclerosis 4
has_exact_synonym: amyotrophic lateral sclerosis 4, juvenile
has_exact_synonym: dHMN with upper motor neuron signs
has_obo_namespace: disease_ontology
has_exact_synonym: distal hereditary motor neuropathy with pyramidal features
has_exact_synonym: distal hereditary motor neuropathy with upper motor neuron signs
created by: emitraka

Axiom
database_cross_reference: ORDO:357043
annotated target: dHMN with upper motor neuron signs
annotated source: amyotrophic lateral sclerosis type 4
annotated property: has_exact_synonym

Axiom
annotated target: ALS 4
database_cross_reference: OMIM:602433
annotated source: amyotrophic lateral sclerosis type 4
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/602433
annotated source: amyotrophic lateral sclerosis type 4
annotated property: definition

Axiom
database_cross_reference: OMIM:602433
annotated target: amyotrophic lateral sclerosis 4
annotated source: amyotrophic lateral sclerosis type 4
annotated property: has_exact_synonym

Axiom
database_cross_reference: ORDO:357043
annotated target: distal hereditary motor neuropathy with upper motor neuron signs
annotated source: amyotrophic lateral sclerosis type 4
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:602433
annotated target: distal hereditary motor neuropathy with pyramidal features
annotated source: amyotrophic lateral sclerosis type 4
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:602433
annotated target: amyotrophic lateral sclerosis 4, juvenile
annotated source: amyotrophic lateral sclerosis type 4
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 5
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:17:01Z
definition: A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.
has_exact_synonym: ALS5
id: DOID:0060197
database_cross_reference: OMIM:602099
has_exact_synonym: amyotrophic lateral sclerosis 5
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS5
database_cross_reference: OMIM:602099
annotated source: amyotrophic lateral sclerosis type 5
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:602099
annotated target: amyotrophic lateral sclerosis 5
annotated source: amyotrophic lateral sclerosis type 5
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/602099
annotated source: amyotrophic lateral sclerosis type 5
annotated property: definition

amyotrophic lateral sclerosis type 6
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:21:07Z
definition: A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.
has_exact_synonym: ALS6
id: DOID:0060198
database_cross_reference: OMIM:608030
has_exact_synonym: amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
has_exact_synonym: autosomal recessive amyotrophic lateral sclerosis 6
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:608030
annotated target: amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
annotated source: amyotrophic lateral sclerosis type 6
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/608030
annotated source: amyotrophic lateral sclerosis type 6
annotated property: definition

Axiom
annotated target: ALS6
database_cross_reference: OMIM:608030
annotated source: amyotrophic lateral sclerosis type 6
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:608030
annotated target: autosomal recessive amyotrophic lateral sclerosis 6
annotated source: amyotrophic lateral sclerosis type 6
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 7
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:28:41Z
definition: A type of ALS with loci associated with the disease located_in chromosome 20.
has_exact_synonym: ALS7
id: DOID:0060199
database_cross_reference: OMIM:608031
has_exact_synonym: amyotrophic lateral sclerosis 7
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:608031
annotated target: amyotrophic lateral sclerosis 7
annotated source: amyotrophic lateral sclerosis type 7
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with loci associated with the disease located_in chromosome 20.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/608031
annotated source: amyotrophic lateral sclerosis type 7
annotated property: definition

Axiom
annotated target: ALS7
database_cross_reference: OMIM:608031
annotated source: amyotrophic lateral sclerosis type 7
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 9
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:33:09Z
definition: A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
has_exact_synonym: ALS9
id: DOID:0060200
database_cross_reference: OMIM:611895
has_exact_synonym: amyotrophic lateral sclerosis 9
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS9
database_cross_reference: OMIM:611895
annotated source: amyotrophic lateral sclerosis type 9
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/611895
annotated source: amyotrophic lateral sclerosis type 9
annotated property: definition

Axiom
database_cross_reference: OMIM:611895
annotated target: amyotrophic lateral sclerosis 9
annotated source: amyotrophic lateral sclerosis type 9
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 10
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:36:54Z
definition: A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1.
has_exact_synonym: ALS10
id: DOID:0060201
database_cross_reference: OMIM:612069
has_exact_synonym: TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
has_exact_synonym: amyotrophic lateral sclerosis 10
has_exact_synonym: amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/612069
annotated source: amyotrophic lateral sclerosis type 10
annotated property: definition

Axiom
database_cross_reference: OMIM:612069
annotated target: amyotrophic lateral sclerosis 10
annotated source: amyotrophic lateral sclerosis type 10
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:612069
annotated target: amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
annotated source: amyotrophic lateral sclerosis type 10
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:612069
annotated target: TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
annotated source: amyotrophic lateral sclerosis type 10
annotated property: has_exact_synonym

Axiom
annotated target: ALS10
database_cross_reference: OMIM:612069
annotated source: amyotrophic lateral sclerosis type 10
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 11
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:49:07Z
definition: A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
has_exact_synonym: ALS11
id: DOID:0060202
database_cross_reference: OMIM:612577
has_exact_synonym: amyotrophic lateral sclerosis 11
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS11
database_cross_reference: OMIM:612577
annotated source: amyotrophic lateral sclerosis type 11
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:612577
annotated target: amyotrophic lateral sclerosis 11
annotated source: amyotrophic lateral sclerosis type 11
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/612577
annotated source: amyotrophic lateral sclerosis type 11
annotated property: definition

amyotrophic lateral sclerosis type 12
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:53:12Z
definition: A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
has_exact_synonym: ALS12
id: DOID:0060203
database_cross_reference: OMIM:613435
has_exact_synonym: amyotrophic lateral sclerosis 12
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS12
database_cross_reference: OMIM:613435
annotated source: amyotrophic lateral sclerosis type 12
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/613435
annotated source: amyotrophic lateral sclerosis type 12
annotated property: definition

Axiom
database_cross_reference: OMIM:613435
annotated target: amyotrophic lateral sclerosis 12
annotated source: amyotrophic lateral sclerosis type 12
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 13
type: Class
subclass of: DOID 332
creation date: 2014-09-16T14:56:08Z
definition: A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility.
has_exact_synonym: ALS13
comment: An association between 29 or more CAG repeats and the development of ALS13 exists.
id: DOID:0060204
database_cross_reference: OMIM:183090
has_exact_synonym: amyotrophic lateral sclerosis 13
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:183090
annotated target: amyotrophic lateral sclerosis 13
annotated source: amyotrophic lateral sclerosis type 13
annotated property: has_exact_synonym

Axiom
annotated target: ALS13
database_cross_reference: OMIM:183090
annotated source: amyotrophic lateral sclerosis type 13
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/183090
annotated source: amyotrophic lateral sclerosis type 13
annotated property: definition

amyotrophic lateral sclerosis type 14
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:02:22Z
definition: A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9.
has_exact_synonym: ALS14
id: DOID:0060205
database_cross_reference: OMIM:613954
has_exact_synonym: amyotrophic lateral sclerosis 14
has_exact_synonym: amyotrophic lateral sclerosis, with or without frontotemporal dementia
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/613954
annotated source: amyotrophic lateral sclerosis type 14
annotated property: definition

Axiom
annotated target: ALS14
database_cross_reference: OMIM:613954
annotated source: amyotrophic lateral sclerosis type 14
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:613954
annotated target: amyotrophic lateral sclerosis, with or without frontotemporal dementia
annotated source: amyotrophic lateral sclerosis type 14
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:613954
annotated target: amyotrophic lateral sclerosis 14
annotated source: amyotrophic lateral sclerosis type 14
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 15
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:12:48Z
definition: A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome.
has_exact_synonym: ALS15
id: DOID:0060206
comment: Described in one family only.
database_cross_reference: OMIM:300857
has_exact_synonym: amyotrophic lateral sclerosis 15
has_exact_synonym: amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS15
database_cross_reference: OMIM:300857
annotated source: amyotrophic lateral sclerosis type 15
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/300857
annotated source: amyotrophic lateral sclerosis type 15
annotated property: definition

Axiom
database_cross_reference: OMIM:300857
annotated target: amyotrophic lateral sclerosis 15
annotated source: amyotrophic lateral sclerosis type 15
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:300857
annotated target: amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
annotated source: amyotrophic lateral sclerosis type 15
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 16
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:17:01Z
definition: A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9.
has_exact_synonym: ALS16
id: DOID:0060207
database_cross_reference: OMIM:614373
has_exact_synonym: amyotrophic lateral sclerosis 16
has_related_synonym: amyotrophic lateral sclerosis 16, juvenile
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:614373
annotated target: amyotrophic lateral sclerosis 16
annotated source: amyotrophic lateral sclerosis type 16
annotated property: has_exact_synonym

Axiom
annotated target: ALS16
database_cross_reference: OMIM:614373
annotated source: amyotrophic lateral sclerosis type 16
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/614373
annotated source: amyotrophic lateral sclerosis type 16
annotated property: definition

Axiom
database_cross_reference: OMIM:614373
annotated target: amyotrophic lateral sclerosis 16, juvenile
annotated source: amyotrophic lateral sclerosis type 16
annotated property: has_related_synonym

amyotrophic lateral sclerosis type 17
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:20:50Z
definition: A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3.
has_exact_synonym: ALS17
has_exact_synonym: CHMP2B-related amyotrophic lateral sclerosis
id: DOID:0060208
database_cross_reference: OMIM:614696
has_exact_synonym: amyotrophic lateral sclerosis 17
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:614696
annotated target: amyotrophic lateral sclerosis 17
annotated source: amyotrophic lateral sclerosis type 17
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/614696
annotated source: amyotrophic lateral sclerosis type 17
annotated property: definition

Axiom
annotated target: CHMP2B-related amyotrophic lateral sclerosis
database_cross_reference: OMIM:614696
annotated source: amyotrophic lateral sclerosis type 17
annotated property: has_exact_synonym

Axiom
annotated target: ALS17
database_cross_reference: OMIM:614696
annotated source: amyotrophic lateral sclerosis type 17
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 18
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:24:08Z
definition: A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
has_exact_synonym: ALS18
id: DOID:0060209
database_cross_reference: OMIM:614808
has_exact_synonym: amyotrophic lateral sclerosis 18
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/614808
annotated source: amyotrophic lateral sclerosis type 18
annotated property: definition

Axiom
database_cross_reference: OMIM:614808
annotated target: amyotrophic lateral sclerosis 18
annotated source: amyotrophic lateral sclerosis type 18
annotated property: has_exact_synonym

Axiom
annotated target: ALS18
database_cross_reference: OMIM:614808
annotated source: amyotrophic lateral sclerosis type 18
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 19
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:30:22Z
definition: A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2.
has_exact_synonym: ALS19
id: DOID:0060210
database_cross_reference: OMIM:615515
has_exact_synonym: amyotrophic lateral sclerosis 19
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:615515
annotated target: amyotrophic lateral sclerosis 19
annotated source: amyotrophic lateral sclerosis type 19
annotated property: has_exact_synonym

Axiom
annotated target: ALS19
database_cross_reference: OMIM:615515
annotated source: amyotrophic lateral sclerosis type 19
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/615515
annotated source: amyotrophic lateral sclerosis type 19
annotated property: definition

amyotrophic lateral sclerosis type 20
type: Class
subclass of: DOID 332
creation date: 2014-09-16T15:34:12Z
definition: A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
has_exact_synonym: ALS20
id: DOID:0060211
database_cross_reference: OMIM:615426
has_exact_synonym: amyotrophic lateral sclerosis 20
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS20
database_cross_reference: OMIM:615426
annotated source: amyotrophic lateral sclerosis type 20
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/615426
annotated source: amyotrophic lateral sclerosis type 20
annotated property: definition

Axiom
database_cross_reference: OMIM:615426
annotated target: amyotrophic lateral sclerosis 20
annotated source: amyotrophic lateral sclerosis type 20
annotated property: has_exact_synonym

amyotrophic lateral sclerosis type 21
type: Class
subclass of: DOID 332
creation date: 2014-09-16T16:06:31Z
definition: A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5.
has_exact_synonym: ALS21
id: DOID:0060212
database_cross_reference: OMIM:606070
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: ALS21
database_cross_reference: OMIM:606070
annotated source: amyotrophic lateral sclerosis type 21
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5.
database_cross_reference: url:http://omim.org/entry/606070
annotated source: amyotrophic lateral sclerosis type 21
annotated property: definition

FTDALS1
type: Class
subclass of: DOID 332
creation date: 2014-09-16T16:36:24Z
definition: A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
has_exact_synonym: ALSFTD
id: DOID:0060213
has_exact_synonym: FTDMND
database_cross_reference: OMIM:105550
has_exact_synonym: amyotrophic lateral sclerosis and/or frontotemporal dementia
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: frontotemporal dementia and/or amyotrophic lateral sclerosis 1
has_exact_synonym: frontotemporal dementia and/or motor neuron disease

Axiom
database_cross_reference: OMIM:105550
annotated target: amyotrophic lateral sclerosis and/or frontotemporal dementia
annotated source: FTDALS1
annotated property: has_exact_synonym

Axiom
annotated target: A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
database_cross_reference: url:http://omim.org/entry/105550
annotated source: FTDALS1
annotated property: definition

Axiom
annotated target: ALSFTD
database_cross_reference: OMIM:105550
annotated source: FTDALS1
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:105550
annotated target: frontotemporal dementia and/or amyotrophic lateral sclerosis 1
annotated source: FTDALS1
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:105550
annotated target: frontotemporal dementia and/or motor neuron disease
annotated source: FTDALS1
annotated property: has_exact_synonym

Axiom
annotated target: FTDMND
database_cross_reference: OMIM:105550
annotated source: FTDALS1
annotated property: has_exact_synonym

FTDALS2
type: Class
subclass of: DOID 332
creation date: 2014-09-16T16:44:08Z
definition: A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
id: DOID:0060214
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Axiom
annotated target: A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
database_cross_reference: url:http://omim.org/entry/615911
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/24934289
annotated source: FTDALS2
annotated property: definition

Axiom
database_cross_reference: OMIM:615911
annotated target: frontotemporal dementia and/or amyotrophic lateral sclerosis 2
annotated source: FTDALS2
annotated property: has_exact_synonym

Balo concentric sclerosis
type: Class
subclass of: DOID 3213
creation date: 2014-09-18T15:02:17Z
definition: A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers.
has_exact_synonym: Balo's concentric sclerosis
id: DOID:0060215
database_cross_reference: ICD10CM:G31.81
database_cross_reference: ICD10CM:G37.0
database_cross_reference: ICD9CM:341.1
database_cross_reference: MSH:D002549
database_cross_reference: NCI:C35257
database_cross_reference: NCI:C84670
database_cross_reference: SNOMEDCT:230380005
database_cross_reference: SNOMEDCT_US_2015_03_01:155059003
database_cross_reference: SNOMEDCT_US_2015_03_01:192932009
database_cross_reference: SNOMEDCT_US_2015_03_01:192938008
database_cross_reference: SNOMEDCT_US_2015_03_01:20415001
database_cross_reference: SNOMEDCT_US_2015_03_01:230380005
database_cross_reference: SNOMEDCT_US_2015_03_01:267702006
database_cross_reference: SNOMEDCT_US_2015_03_01:44875002
database_cross_reference: SNOMEDCT_US_2015_03_01:49692006
comment: Similar to standard multiple sclerosis.
database_cross_reference: UMLS_CUI:C0004712
database_cross_reference: UMLS_CUI:C0007795
database_cross_reference: UMLS_CUI:C0205710
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A rare demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers.
database_cross_reference: url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis
annotated source: Balo concentric sclerosis
annotated property: definition

Cogan syndrome
type: Class
subclass of: DOID 5614
creation date: 2014-09-22T16:29:20Z
definition: A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
has_exact_synonym: Cogan's syndrome
id: DOID:0060216
database_cross_reference: ICD10CM:H16.32
database_cross_reference: MSH:D055952
database_cross_reference: ORDO:1467
comment: OWL also bilateral audiovestibular deficits.
database_cross_reference: SNOMEDCT_US_2015_03_01:193785001
database_cross_reference: SNOMEDCT_US_2015_03_01:231906002
database_cross_reference: SNOMEDCT_US_2015_03_01:26018001
database_cross_reference: SNOMEDCT_US_2015_03_01:405810005
database_cross_reference: UMLS_CUI:C0271270
has_exact_synonym: diffuse interstitual keratitis
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: ICD10CM:H16.32
annotated target: diffuse interstitual keratitis
annotated source: Cogan syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Cogan's syndrome
database_cross_reference: ICD10CM:H16.32
annotated source: Cogan syndrome
annotated property: has_exact_synonym

Axiom
annotated target: A rare eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cogan_syndrome
annotated source: Cogan syndrome
annotated property: definition

Cogan-Reese syndrome
type: Class
subclass of: DOID 5614
creation date: 2014-09-23T12:31:25Z
definition: A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
id: DOID:0060217
database_cross_reference: MEDDRA:10059200
database_cross_reference: NCI:C84644
database_cross_reference: ORDO:98980
database_cross_reference: SNOMEDCT_US_2015_03_01:129624009
database_cross_reference: SNOMEDCT_US_2015_03_01:404633004
database_cross_reference: UMLS_CUI:C1168173
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A rare eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
database_cross_reference: url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1
annotated source: Cogan-Reese syndrome
annotated property: definition

CREST syndrome
type: Class
subclass of: DOID 225
subclass of: DOID 7
creation date: 2014-09-24T16:30:36Z
definition: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
id: DOID:0060218
database_cross_reference: ICD10CM:M34.1
database_cross_reference: MSH:D017675
database_cross_reference: NCI:C70646
database_cross_reference: OMIM:181750
database_cross_reference: SNOMEDCT_US_2015_03_01:156453002
database_cross_reference: SNOMEDCT_US_2015_03_01:201442004
database_cross_reference: SNOMEDCT_US_2015_03_01:31848007
database_cross_reference: SNOMEDCT_US_2015_03_01:62382002
database_cross_reference: UMLS_CUI:C0206138
database_cross_reference: UMLS_CUI:C1527226
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
database_cross_reference: url:http://en.wikipedia.org/wiki/CREST_syndrome
annotated source: CREST syndrome
annotated property: definition

lymph node adenoid cystic carcinoma
type: Class
subclass of: lymph node cancer
subclass of: DOID 4866
creation date: 2014-11-05T09:11:16Z
definition: A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
id: DOID:0060219
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: lymph node adenoid cystic cancer
in_subset: DO cancer slim

Axiom
annotated target: A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
database_cross_reference: url:http://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109
database_cross_reference: url:http://www.oralcancerfoundation.org/facts/rare/ac/
annotated source: lymph node adenoid cystic carcinoma
annotated property: definition

physical urticaria
type: Class
subclass of: DOID 1555
creation date: 2014-11-21T15:51:38Z
definition: An urticaria induced by external physical influences.
id: DOID:0060220
comment: WD correction.
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An urticaria induced by external physical influences.
database_cross_reference: ISBN:1416029990
database_cross_reference: url:http://en.wikipedia.org/wiki/Physical_urticaria
database_cross_reference: url:http://www.dermnetnz.org/reactions/urticaria.html
annotated source: physical urticaria
annotated property: definition

Maffucci syndrome
type: Class
subclass of: DOID 225
creation date: 2014-11-26T11:16:24Z
definition: A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
id: DOID:0060221
database_cross_reference: ICD10CM:Q78.4
database_cross_reference: OMIM:614569
database_cross_reference: ORDO:163634
comment: WD former synonym.
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
database_cross_reference: url:http://en.wikipedia.org/wiki/Maffucci_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/maffucci-syndrome
annotated source: Maffucci syndrome
annotated property: definition

Scheie syndrome
type: Class
subclass of: DOID_12798
creation date: 2014-11-26T11:32:20Z
definition: A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
id: DOID:0060222
database_cross_reference: ICD10CM:E76.0
database_cross_reference: OMIM:607016
database_cross_reference: ORDO:93474
comment: WD former synonym.
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: mucopolysaccharidosis type 1S
has_exact_synonym: mucopolysaccharidosis type IS
has_exact_synonym: mucopolysaccharidosis type V

Axiom
annotated target: A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
database_cross_reference: url:http://en.wikipedia.org/wiki/Scheie_syndrome
annotated source: Scheie syndrome
annotated property: definition

agraphia
type: Class
subclass of: writing disorder
creation date: 2014-11-26T11:44:01Z
definition: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
id: DOID:0060223
database_cross_reference: ICD10CM:R48.8
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
database_cross_reference: url:http://en.wikipedia.org/wiki/Agraphia
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21507544
annotated source: agraphia
annotated property: definition

atrial fibrillation
type: Class
subclass of: heart conduction disease
creation date: 2015-01-16T14:55:21Z
definition: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
has_exact_synonym: A-fib
id: DOID:0060224
database_cross_reference: HP:0005110
database_cross_reference: ICD9CM:427.31
database_cross_reference: MSH:D001281
database_cross_reference: NCI:C50466
database_cross_reference: SNOMEDCT_US_2015_03_01:155364009
database_cross_reference: SNOMEDCT_US_2015_03_01:266306001
database_cross_reference: SNOMEDCT_US_2015_03_01:49436004
database_cross_reference: UMLS_CUI:C0004238
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrial_fibrillation
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/af
annotated source: atrial fibrillation
annotated property: definition

3MC syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-16T15:08:40Z
definition: A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
id: DOID:0060225
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: OMIM:248340
database_cross_reference: OMIM:257920
database_cross_reference: OMIM:265050
database_cross_reference: ORDO:293843
comment: Xref MGI.
has_exact_synonym: craniofacial-ulnar-renal syndrome
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: oculopalatoskeletal syndrome
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16096999
annotated source: 3MC syndrome
annotated property: definition

acrofrontofacionasal dysostosis
type: Class
subclass of: DOID 1934
creation date: 2015-01-16T15:39:56Z
definition: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
has_exact_synonym: AFFN dysostosis
id: DOID:0060226
database_cross_reference: MSH:C538186
database_cross_reference: OMIM:201180
database_cross_reference: OMIM:239710
database_cross_reference: ORDO:1784
has_exact_synonym: Richieri-Costa-Colletto syndrome
database_cross_reference: UMLS_CUI:C1860118
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
database_cross_reference: url:http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/2986457
annotated source: acrofrontofacionasal dysostosis
annotated property: definition

Adams-Oliver syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-16T15:48:40Z
definition: A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
has_exact_synonym: Adams Oliver syndrome
id: DOID:0060227
database_cross_reference: ICD10CM:Q87.2
database_cross_reference: MSH:C538225
database_cross_reference: OMIM:100300
database_cross_reference: OMIM:614219
database_cross_reference: OMIM:614814
database_cross_reference: OMIM:615297
database_cross_reference: OMIM:616028
database_cross_reference: SNOMEDCT_US_2015_03_01:34748004
database_cross_reference: UMLS_CUI:C0265268
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
database_cross_reference: PMID:18000904
database_cross_reference: url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract
annotated source: Adams-Oliver syndrome
annotated property: definition

intracranial berry aneurysm
type: Class
subclass of: intracranial aneurysm
creation date: 2015-01-16T16:24:39Z
definition: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
id: DOID:0060228
database_cross_reference: HP:0007029
database_cross_reference: ICD10CM:I60.7
database_cross_reference: OMIM:105800
database_cross_reference: OMIM:300870
database_cross_reference: OMIM:608542
database_cross_reference: OMIM:609122
database_cross_reference: OMIM:610213
database_cross_reference: OMIM:611892
database_cross_reference: OMIM:612161
database_cross_reference: OMIM:612162
database_cross_reference: OMIM:612586
database_cross_reference: OMIM:612587
database_cross_reference: OMIM:614252
database_cross_reference: ORDO:231160
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: familial aneurysmal subarachnoid hemorrhage
has_exact_synonym: familial berry aneurysm
has_exact_synonym: familial intracranial saccular aneurysm
has_exact_synonym: saccular cerebral aneurysm
in_subset: DO MGI slim

Axiom
annotated target: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
database_cross_reference: url:http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms
database_cross_reference: url:http://radiopaedia.org/articles/saccular-cerebral-aneurysm
database_cross_reference: url:http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85,P08772/
annotated source: intracranial berry aneurysm
annotated property: definition

Baraitser-Winter syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-16T16:52:25Z
definition: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
id: DOID:0060229
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: OMIM:243310
database_cross_reference: OMIM:614583
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome
annotated source: Baraitser-Winter syndrome
annotated property: definition

basal ganglia calcification
type: Class
subclass of: DOID 679
creation date: 2015-01-22T13:09:08Z
definition: A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
id: DOID:0060230
has_exact_synonym: Fahr disease
database_cross_reference: HP:0002135
database_cross_reference: MSH:C536275
comment: NT MGI.
database_cross_reference: OMIM:114100
database_cross_reference: OMIM:213600
database_cross_reference: OMIM:606656
database_cross_reference: OMIM:615007
database_cross_reference: OMIM:615483
database_cross_reference: SNOMEDCT_US_2015_03_01:110997000
database_cross_reference: UMLS_CUI:C0393590
has_exact_synonym: childhood-onset idiopathic basal ganglia calcification
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: idiopathic basal ganglia calcification

Axiom
annotated target: A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fahr%27s_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract
annotated source: basal ganglia calcification
annotated property: definition

Bruck syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-23T15:12:40Z
definition: A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
id: DOID:0060231
database_cross_reference: ICD10CM:M21.8
comment: NT MGI.
database_cross_reference: OMIM:259450
database_cross_reference: OMIM:609220
database_cross_reference: ORDO:2771
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: osteogenesis imperfecta with congenital joint contractures

Axiom
annotated target: A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bruck_syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/9129737
annotated source: Bruck syndrome
annotated property: definition

branchiootic syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-23T15:24:02Z
definition: A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
has_exact_synonym: BO syndrome
has_exact_synonym: BOR
id: DOID:0060232
database_cross_reference: ICD10CM:Q87.0
comment: NT MGI.
database_cross_reference: OMIM:120502
database_cross_reference: OMIM:602588
database_cross_reference: OMIM:608389
database_cross_reference: ORDO:52429
has_exact_synonym: branchiootic dysplasia
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22901925
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract
annotated source: branchiootic syndrome
annotated property: definition

cardiofaciocutaneous syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-23T15:37:07Z
definition: A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
has_exact_synonym: CFC syndrome
id: DOID:0060233
database_cross_reference: ICD10CM:Q87.8
comment: NT MGI.
database_cross_reference: OMIM:115150
database_cross_reference: OMIM:615278
database_cross_reference: OMIM:615279
database_cross_reference: OMIM:615280
database_cross_reference: ORDO:1340
has_exact_synonym: cardio-facial-cutaneous syndrome
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract
annotated source: cardiofaciocutaneous syndrome
annotated property: definition

Carpenter syndrome
type: Class
subclass of: DOID_12960
creation date: 2015-01-23T16:06:03Z
definition: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
id: DOID:0060234
database_cross_reference: MSH:C563187
database_cross_reference: NCI:C98873
comment: NT MGI.
database_cross_reference: OMIM:201000
database_cross_reference: OMIM:614976
database_cross_reference: ORDO:65759
database_cross_reference: SNOMEDCT_US_2015_03_01:205813009
database_cross_reference: SNOMEDCT_US_2015_03_01:403767009
database_cross_reference: UMLS_CUI:C1275078
has_exact_synonym: acrocephalopolysyndactyly type II
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carpenter_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract
annotated source: Carpenter syndrome
annotated property: definition

carnitine palmitoyltransferase II deficiency
type: Class
subclass of: DOID 3146
creation date: 2015-01-23T16:35:22Z
definition: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
has_exact_synonym: CPT-II
id: DOID:0060235
database_cross_reference: MSH:C535589
comment: NT MGI.
database_cross_reference: OMIM:255110
database_cross_reference: OMIM:600649
database_cross_reference: OMIM:608836
database_cross_reference: ORDO:157
database_cross_reference: SNOMEDCT_US_2015_03_01:238002005
database_cross_reference: UMLS_CUI:C0342790
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: infantile carnitine palmitoyltransferase II deficiency
has_exact_synonym: late-onset carnitine palmitoyltransferase II deficiency
has_exact_synonym: lethal neonatal carnitine palmitoyltransferase II deficiency

Axiom
annotated target: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency
annotated source: carnitine palmitoyltransferase II deficiency
annotated property: definition

xanthinuria
type: Class
subclass of: DOID 653
creation date: 2015-01-27T14:10:42Z
definition: A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
id: DOID:0060236
database_cross_reference: HP:0010934
database_cross_reference: MSH:C562584
database_cross_reference: MSH:C566358
comment: NT MGI.
database_cross_reference: OMIM:278300
database_cross_reference: OMIM:603592
database_cross_reference: ORDO:3467
database_cross_reference: SNOMEDCT_US_2015_03_01:124147007
database_cross_reference: SNOMEDCT_US_2015_03_01:72682008
database_cross_reference: UMLS_CUI:C0268118
database_cross_reference: UMLS_CUI:C1863688
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: xanthine dehydrogenase deficiency
has_exact_synonym: xanthine oxidase deficiency
in_subset: DO MGI slim

Axiom
annotated target: A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
database_cross_reference: url:http://en.wikipedia.org/wiki/Xanthinuria
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/4369449
annotated source: xanthinuria
annotated property: definition

Warburg micro syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-01-27T14:32:30Z
definition: An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
id: DOID:0060237
database_cross_reference: MSH:C536681
comment: NT MGI.
database_cross_reference: OMIM:600118
database_cross_reference: OMIM:614222
database_cross_reference: OMIM:614225
database_cross_reference: OMIM:615663
database_cross_reference: ORDO:2510
database_cross_reference: UMLS_CUI:C1838625
has_exact_synonym: WARBM
has_exact_synonym: Warburg-Sjo-Fledelius syndrome
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: micro syndrome
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
database_cross_reference: url:http://en.wikipedia.org/wiki/Micro_syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22768674
annotated source: Warburg micro syndrome
annotated property: definition

Van Maldergem syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-27T15:42:05Z
definition: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
id: DOID:0060238
database_cross_reference: MSH:C536530
comment: NT MGI.
database_cross_reference: OMIM:601390
database_cross_reference: OMIM:615546
database_cross_reference: ORDO:314679
database_cross_reference: UMLS_CUI:C1832390
has_exact_synonym: cerebro-facio-articular syndrome
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/1633641
annotated source: Van Maldergem syndrome
annotated property: definition

Van der Woude syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-27T15:51:56Z
definition: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
id: DOID:0060239
database_cross_reference: ICD10CM:Q38.0
database_cross_reference: MSH:C536528
database_cross_reference: MSH:C563529
database_cross_reference: NCI:C74986
comment: NT MGI.
database_cross_reference: OMIM:119300
database_cross_reference: OMIM:606713
database_cross_reference: ORDO:888
database_cross_reference: SNOMEDCT_US_2015_03_01:79261008
database_cross_reference: UMLS_CUI:C0175697
database_cross_reference: UMLS_CUI:C1834339
has_obo_namespace: disease_ontology
created by: emitraka
has_related_synonym: lip-pit syndrome
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome
annotated source: Van der Woude syndrome
annotated property: definition

UV-sensitive syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-01-27T16:00:50Z
definition: An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).
id: DOID:0060240
database_cross_reference: MSH:563466
comment: NT MGI.
database_cross_reference: OMIM:600630
database_cross_reference: OMIM:614621
database_cross_reference: OMIM:614640
database_cross_reference: ORDO:178338
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).
database_cross_reference: url:http://en.wikipedia.org/wiki/UV-sensitive_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome
annotated source: UV-sensitive syndrome
annotated property: definition

3-M syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-01-27T16:10:58Z
definition: An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
id: DOID:0060241
has_exact_synonym: Le Merrer syndrome
database_cross_reference: MSH:C535314
database_cross_reference: MSH:C535725
has_exact_synonym: Miller-McKusick-Malvaux syndrome
comment: NT MGI.
database_cross_reference: OMIM:273750
database_cross_reference: OMIM:612921
database_cross_reference: OMIM:614205
database_cross_reference: ORDO:2616
database_cross_reference: SNOMEDCT_US_2015_03_01:702342007
database_cross_reference: UMLS_CUI:C1848862
database_cross_reference: UMLS_CUI:C1851996
has_exact_synonym: Yakut short stature syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: dolichospondylic dysplasia
created by: emitraka
has_exact_synonym: gloomy face syndrome
has_exact_synonym: three M syndrome

Axiom
annotated target: An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
database_cross_reference: url:http://en.wikipedia.org/wiki/3-M_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/3-m-syndrome
annotated source: 3-M syndrome
annotated property: definition

synpolydactyly
type: Class
subclass of: syndactyly
creation date: 2015-01-27T16:57:56Z
definition: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.
id: DOID:0060242
database_cross_reference: MSH:C538153
database_cross_reference: NCI:C75003
comment: NT MGI.
database_cross_reference: OMIM:186000
database_cross_reference: OMIM:608180
database_cross_reference: OMIM:610234
database_cross_reference: ORDO:295195
database_cross_reference: UMLS_CUI:C2699746
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: syndactyly type 2
in_subset: DO MGI slim

Axiom
annotated target: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Synpolydactyly
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/18177473
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/8817328
annotated source: synpolydactyly
annotated property: definition

stuttering
type: Class
subclass of: DOID 4186
creation date: 2015-01-28T16:04:54Z
definition: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
id: DOID:0060243
database_cross_reference: ICD10CM:F80.81
database_cross_reference: MSH:D013342
database_cross_reference: NCI:C35043
comment: NT MGI.
database_cross_reference: OMIM:184450
database_cross_reference: OMIM:609261
database_cross_reference: OMIM:614655
database_cross_reference: OMIM:614668
database_cross_reference: SNOMEDCT_US_2015_03_01:154935003
database_cross_reference: SNOMEDCT_US_2015_03_01:191987007
database_cross_reference: SNOMEDCT_US_2015_03_01:192632007
database_cross_reference: SNOMEDCT_US_2015_03_01:229631007
database_cross_reference: SNOMEDCT_US_2015_03_01:231512003
database_cross_reference: SNOMEDCT_US_2015_03_01:231513008
database_cross_reference: SNOMEDCT_US_2015_03_01:29916003
database_cross_reference: SNOMEDCT_US_2015_03_01:39423001
database_cross_reference: SNOMEDCT_US_2015_03_01:416163003
database_cross_reference: UMLS_CUI:C0038131
database_cross_reference: UMLS_CUI:C0038506
database_cross_reference: UMLS_CUI:C0454542
database_cross_reference: UMLS_CUI:C0751527
database_cross_reference: UMLS_CUI:C0751528
database_cross_reference: UMLS_CUI:C0751529
database_cross_reference: UMLS_CUI:C3489627
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: familial persistent stuttering
has_exact_synonym: stammering
in_subset: DO MGI slim

Axiom
annotated target: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
database_cross_reference: url:http://en.wikipedia.org/wiki/Stuttering
database_cross_reference: url:http://www.asha.org/public/speech/disorders/stuttering.htm
database_cross_reference: url:http://www.merriam-webster.com/dictionary/stutter
annotated source: stuttering
annotated property: definition

specific language impairment
type: Class
subclass of: DOID 93
creation date: 2015-01-28T16:29:51Z
definition: A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
id: DOID:0060244
comment: NT MGI.
database_cross_reference: OMIM:606711
database_cross_reference: OMIM:606712
database_cross_reference: OMIM:612514
database_cross_reference: OMIM:615432
database_cross_reference: OMIM:617134
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
database_cross_reference: url:http://en.wikipedia.org/wiki/Specific_language_impairment
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/19646677
annotated source: specific language impairment
annotated property: definition

Mast syndrome
type: Class
subclass of: DOID 2476
creation date: 2015-01-28T16:42:37Z
definition: A hereditary spastic paraplegia associated with dementia.
id: DOID:0060245
database_cross_reference: ICD10CM:G11.4
comment: NT MGI.
database_cross_reference: OMIM:248900
database_cross_reference: ORDO:101001
has_exact_synonym: autosomal recessive spastic paraplegia 21
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A hereditary spastic paraplegia associated with dementia.
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/SPG21
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/6024251
annotated source: Mast syndrome
annotated property: definition

MASA syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-28T16:49:53Z
definition: A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
has_exact_synonym: CRASH syndrome
id: DOID:0060246
has_exact_synonym: Gareis-Mason syndrome
has_exact_synonym: L1 syndrome
database_cross_reference: MSH:C536029
comment: NT MGI.
database_cross_reference: OMIM:303350
database_cross_reference: ORDO:2466
database_cross_reference: UMLS_CUI:C0795953
has_exact_synonym: X-linked complicated hereditary spastic paraplegia type 1
has_exact_synonym: X-linked corpus callosum agenesis
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
database_cross_reference: url:http://en.wikipedia.org/wiki/MASA_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/l1-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract
annotated source: MASA syndrome
annotated property: definition

Smith-McCort dysplasia
type: Class
subclass of: DOID 2256
creation date: 2015-01-29T15:06:25Z
definition: An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
id: DOID:0060247
database_cross_reference: MSH:C564589
comment: NT MGI.
database_cross_reference: OMIM:607326
database_cross_reference: OMIM:615222
database_cross_reference: ORDO:178355
database_cross_reference: UMLS_CUI:C1846431
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/1216821
annotated source: Smith-McCort dysplasia
annotated property: definition

Simpson-Golabi-Behmel syndrome
type: Class
subclass of: X-linked disease
creation date: 2015-01-29T15:15:46Z
definition: An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
has_exact_synonym: DGSX Golabi-Rosen syndrome
id: DOID:0060248
has_exact_synonym: Golabi-Rosen syndrome
database_cross_reference: MSH:C537340
comment: NT MGI.
database_cross_reference: OMIM:300209
database_cross_reference: OMIM:312870
database_cross_reference: ORDO:373
has_exact_synonym: SGB syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:439143004
has_exact_synonym: Sara Angers syndrome
has_exact_synonym: Simpson dysmorphia syndrome
database_cross_reference: UMLS_CUI:C0796154
has_exact_synonym: X-linked dysplasia gigantism syndrome
has_exact_synonym: bulldog syndrome
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/982/viewAbstract
annotated source: Simpson-Golabi-Behmel syndrome
annotated property: definition

scoliosis
type: Class
subclass of: bone structure disease
creation date: 2015-01-29T15:44:16Z
definition: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
id: DOID:0060249
database_cross_reference: HP:0002650
database_cross_reference: ICD10CM:M41
database_cross_reference: ICD10CM:M41.9
database_cross_reference: MSH:D012600
database_cross_reference: NCI:C78603
comment: NT MGI add.
database_cross_reference: SNOMEDCT:20944008
database_cross_reference: SNOMEDCT:298382003
database_cross_reference: SNOMEDCT_US_2015_03_01:298382003
database_cross_reference: SNOMEDCT_US_2015_03_01:36773001
database_cross_reference: UMLS_CUI:C0036439
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Scoliosis
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=scoliosis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140
annotated source: scoliosis
annotated property: definition

idiopathic scoliosis
type: Class
subclass of: scoliosis
creation date: 2015-01-29T15:52:18Z
definition: A scoliosis with no known cause.
id: DOID:0060250
comment: NT MGI.
database_cross_reference: OMIM:181800
database_cross_reference: OMIM:607354
database_cross_reference: OMIM:608765
database_cross_reference: OMIM:612238
database_cross_reference: OMIM:612239
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A scoliosis with no known cause.
database_cross_reference: url:http://en.wikipedia.org/wiki/Scoliosis
annotated source: idiopathic scoliosis
annotated property: definition

sclerosteosis
type: Class
subclass of: SOST-related sclerosing bone dysplasia
creation date: 2015-01-29T16:02:45Z
definition: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
id: DOID:0060251
database_cross_reference: MSH:C537525
comment: NT MGI.
database_cross_reference: OMIM:269500
database_cross_reference: OMIM:614305
database_cross_reference: ORDO:3152
database_cross_reference: SNOMEDCT_US_2015_03_01:17568006
database_cross_reference: UMLS_CUI:C0265301
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11836356
annotated source: sclerosteosis
annotated property: definition

sclerocornea
type: Class
subclass of: corneal disease
creation date: 2015-01-29T16:16:57Z
definition: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
id: DOID:0060252
database_cross_reference: HP:0000647
database_cross_reference: MSH:C565209
comment: NT MGI.
database_cross_reference: OMIM:181700
database_cross_reference: ORDO:91490
database_cross_reference: UMLS_CUI:C1853235
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: isolated congenital sclerocornea
in_subset: DO MGI slim

Axiom
annotated target: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sclerocornea
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/3994576
annotated source: sclerocornea
annotated property: definition

scapuloperoneal myopathy
type: Class
subclass of: DOID 9884
creation date: 2015-01-29T16:35:26Z
definition: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
id: DOID:0060253
comment: NT MGI.
database_cross_reference: OMIM:181430
database_cross_reference: OMIM:300695
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/28179901
annotated source: scapuloperoneal myopathy
annotated property: definition

Robinow syndrome
type: Class
subclass of: DOID 225
creation date: 2015-01-29T16:42:52Z
definition: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
id: DOID:0060254
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MSH:562492
comment: NT MGI.
database_cross_reference: OMIM:180700
database_cross_reference: ORDO:97360
has_exact_synonym: Robinow dwarfism
database_cross_reference: UMLS_CUI:C0265205
has_exact_synonym: acral dysostosis with facial and genital abnormalities
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: fetal face syndrome
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Robinow_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/robinow-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract
annotated source: Robinow syndrome
annotated property: definition

rippling muscle disease
type: Class
subclass of: DOID 66
creation date: 2015-01-29T16:51:43Z
definition: A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.
id: DOID:0060255
comment: NT MGI.
database_cross_reference: OMIM:600332
database_cross_reference: OMIM:606072
database_cross_reference: ORDO:97238
database_cross_reference: UMLS_CUI:C1853698
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/rippling-muscle-disease
annotated source: rippling muscle disease
annotated property: definition

Dowling-Degos disease
type: Class
subclass of: pigmentation disease
creation date: 2015-01-30T11:04:57Z
definition: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
id: DOID:0060256
database_cross_reference: MSH:C562924
comment: NT MGI.
database_cross_reference: OMIM:179850
database_cross_reference: OMIM:615327
database_cross_reference: OMIM:615674
database_cross_reference: OMIM:615696
database_cross_reference: ORDO:79145
database_cross_reference: SNOMEDCT_US_2015_03_01:239133004
database_cross_reference: UMLS_CUI:C0406811
database_cross_reference: UMLS_CUI:C3714534
has_exact_synonym: dark dot disease
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: reticular pigment anomaly of flexures
in_subset: DO MGI slim

Axiom
annotated target: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
database_cross_reference: url:http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/dowling-degos-disease
annotated source: Dowling-Degos disease
annotated property: definition

dyschromatosis symmetrica hereditaria
type: Class
subclass of: pigmentation disease
creation date: 2015-01-30T16:08:47Z
definition: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
id: DOID:0060257
database_cross_reference: MSH:C535729
comment: NT MGI.
database_cross_reference: OMIM:127400
database_cross_reference: ORDO:41
database_cross_reference: SNOMEDCT_US_2015_03_01:239085000
database_cross_reference: UMLS_CUI:C0406775
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: reticulate acropigmentation of Dohi
in_subset: DO MGI slim

Axiom
annotated target: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria
database_cross_reference: url:http://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22974014
annotated source: dyschromatosis symmetrica hereditaria
annotated property: definition

reticulate acropigmentation of Kitamura
type: Class
subclass of: pigmentation disease
creation date: 2015-01-30T16:19:57Z
definition: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
id: DOID:0060258
database_cross_reference: MSH:C562924
comment: NT MGI.
database_cross_reference: OMIM:615537
database_cross_reference: ORDO:178307
has_exact_synonym: RAPK
database_cross_reference: SNOMEDCT_US_2015_03_01:239133004
database_cross_reference: UMLS_CUI:C0406811
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22808308
annotated source: reticulate acropigmentation of Kitamura
annotated property: definition

renal-hepatic-pancreatic dysplasia
type: Class
subclass of: physical disorder
creation date: 2015-01-30T16:33:37Z
definition: A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
id: DOID:0060259
has_exact_synonym: Ivemark's syndrome
database_cross_reference: OMIM:208540
database_cross_reference: OMIM:615415
database_cross_reference: ORDO:294415
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17605805
annotated source: renal-hepatic-pancreatic dysplasia
annotated property: definition

ptosis
type: Class
subclass of: DOID 5614
creation date: 2015-01-30T16:46:53Z
definition: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
id: DOID:0060260
database_cross_reference: HP:0000508
database_cross_reference: ICD10CM:H02.4
database_cross_reference: ICD10CM:H02.40
database_cross_reference: ICD10CM:H02.409
database_cross_reference: ICD9CM:374.3
database_cross_reference: ICD9CM:374.30
database_cross_reference: MSH:D001763
database_cross_reference: NCI:C27298
comment: NT MGI add.
database_cross_reference: SNOMEDCT_US_2015_03_01:11934000
database_cross_reference: SNOMEDCT_US_2015_03_01:155179008
database_cross_reference: SNOMEDCT_US_2015_03_01:193942002
database_cross_reference: SNOMEDCT_US_2015_03_01:193943007
database_cross_reference: SNOMEDCT_US_2015_03_01:193945000
database_cross_reference: SNOMEDCT_US_2015_03_01:204197004
database_cross_reference: UMLS_CUI:C0005745
has_exact_synonym: blepharoptosis
has_obo_namespace: disease_ontology
has_exact_synonym: drooping eyelid
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29
annotated source: ptosis
annotated property: definition

congenital ptosis
type: Class
subclass of: ptosis
creation date: 2015-01-30T16:53:38Z
definition: A ptosis characterized by eyelid drop present at birth.
id: DOID:0060261
database_cross_reference: HP:0007970
database_cross_reference: ICD10CM:Q10.0
database_cross_reference: ICD9CM:743.61
database_cross_reference: NCI:C27049
comment: NT MGI.
database_cross_reference: OMIM:178300
database_cross_reference: OMIM:300245
database_cross_reference: SNOMEDCT_US_2015_03_01:156901004
database_cross_reference: SNOMEDCT_US_2015_03_01:204197004
database_cross_reference: SNOMEDCT_US_2015_03_01:268163008
database_cross_reference: SNOMEDCT_US_2015_03_01:60938005
database_cross_reference: SNOMEDCT_US_2015_03_01:61989004
database_cross_reference: UMLS_CUI:C0266573
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A ptosis characterized by eyelid drop present at birth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29
database_cross_reference: url:http://eyewiki.aao.org/Ptosis,_Congenital
annotated source: congenital ptosis
annotated property: definition

gallbladder disease
type: Class
subclass of: DOID 77
creation date: 2015-02-02T15:48:08Z
definition: A gastrointestinal system disease that is located_in the gallbladder.
has_alternative_id: DOID:0000000
id: DOID:0060262
database_cross_reference: ICD10CM:K82.9
database_cross_reference: ICD9CM:575.9
database_cross_reference: MSH:D005705
database_cross_reference: NCI:C34631
database_cross_reference: OMIM:609918
database_cross_reference: OMIM:609919
database_cross_reference: OMIM:611465
database_cross_reference: SNOMEDCT_US_2015_03_01:155807008
database_cross_reference: SNOMEDCT_US_2015_03_01:155826000
database_cross_reference: SNOMEDCT_US_2015_03_01:155829007
database_cross_reference: SNOMEDCT_US_2015_03_01:266535008
database_cross_reference: SNOMEDCT_US_2015_03_01:266542008
database_cross_reference: SNOMEDCT_US_2015_03_01:266543003
database_cross_reference: SNOMEDCT_US_2015_03_01:39621005
database_cross_reference: UMLS_CUI:C0016977
comment: Xref MGI.
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim
in_subset: NCIthesaurus

Axiom
annotated target: A gastrointestinal system disease that is located_in the gallbladder.
database_cross_reference: url:http://en.wikipedia.org/wiki/Gallbladder_disease
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null
annotated source: gallbladder disease
annotated property: definition

porencephaly
type: Class
subclass of: DOID 936
creation date: 2015-02-04T14:12:00Z
id: DOID:0060263
database_cross_reference: HP:0002132
database_cross_reference: ICD10CM:Q04.6
database_cross_reference: MSH:D065708
comment: NT MGI.
database_cross_reference: OMIM:175780
database_cross_reference: OMIM:614483
database_cross_reference: ORDO:2940
database_cross_reference: SNOMEDCT_US_2015_03_01:204071008
database_cross_reference: SNOMEDCT_US_2015_03_01:38353004
database_cross_reference: SNOMEDCT_US_2015_03_01:698837003
database_cross_reference: UMLS_CUI:C0302892
database_cross_reference: UMLS_CUI:C1867983
database_cross_reference: UMLS_CUI:C3698507
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia
type: Class
subclass of: DOID 1289
creation date: 2015-02-04T14:23:25Z
id: DOID:0060264
database_cross_reference: MSH:C580383
comment: NT MGI add.
has_exact_synonym: PCH
database_cross_reference: SNOMEDCT_US_2015_03_01:45163000
database_cross_reference: UMLS_CUI:C0266468
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 1A
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060265
comment: NT MGI.
database_cross_reference: OMIM:607596
database_cross_reference: ORDO:2254
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 1B
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060266
comment: NT MGI.
database_cross_reference: OMIM:614678
database_cross_reference: ORDO:2254
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 2A
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060267
database_cross_reference: MSH:C564738
comment: NT MGI.
database_cross_reference: OMIM:277470
database_cross_reference: ORDO:2524
database_cross_reference: UMLS_CUI:C1848526
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 2B
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060268
database_cross_reference: MSH:C567325
comment: NT MGI.
database_cross_reference: OMIM:612389
database_cross_reference: ORDO:2524
database_cross_reference: UMLS_CUI:C2676466
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 2C
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060269
database_cross_reference: MSH:C567324
comment: NT MGI.
database_cross_reference: OMIM:612390
database_cross_reference: ORDO:2524
database_cross_reference: UMLS_CUI:C2676465
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 2D
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060270
database_cross_reference: ICD10CM:Q04.3
comment: NT MGI.
database_cross_reference: OMIM:613811
database_cross_reference: ORDO:2524
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 2E
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060271
comment: NT MGI.
database_cross_reference: OMIM:615851
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 3
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060272
database_cross_reference: MSH:C548072
comment: NT MGI.
database_cross_reference: OMIM:608027
database_cross_reference: ORDO:97249
database_cross_reference: UMLS_CUI:C1842687
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 4
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060273
database_cross_reference: MSH:C536716
comment: NT MGI.
database_cross_reference: OMIM:225753
database_cross_reference: ORDO:166063
database_cross_reference: UMLS_CUI:C1856974
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 5
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060274
database_cross_reference: MSH:C537745
comment: NT MGI.
database_cross_reference: OMIM:610204
database_cross_reference: ORDO:166068
database_cross_reference: UMLS_CUI:C1857762
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 6
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060275
database_cross_reference: MSH:C548074
comment: NT MGI.
database_cross_reference: OMIM:611523
database_cross_reference: ORDO:166073
database_cross_reference: UMLS_CUI:C1969084
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 7
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060276
database_cross_reference: ICD10CM:Q04.3
comment: NT MGI.
database_cross_reference: OMIM:614969
database_cross_reference: ORDO:284339
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 8
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060277
database_cross_reference: ICD10CM:Q04.3
comment: NT MGI.
database_cross_reference: OMIM:614961
database_cross_reference: ORDO:324569
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 9
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060278
database_cross_reference: ICD10CM:Q04.3
comment: NT MGI.
database_cross_reference: OMIM:615809
database_cross_reference: ORDO:369920
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

pontocerebellar hypoplasia type 10
type: Class
subclass of: pontocerebellar hypoplasia
creation date: 2015-02-04T14:28:28Z
id: DOID:0060279
comment: NT MGI.
database_cross_reference: OMIM:615803
database_cross_reference: ORDO:411493
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

primary pigmented nodular adrenocortical disease
type: Class
subclass of: DOID 3952
creation date: 2015-02-04T16:01:02Z
definition: An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
id: DOID:0060280
database_cross_reference: MSH:C566469
database_cross_reference: MSH:C566472
comment: NT MGI.
database_cross_reference: OMIM:610475
database_cross_reference: OMIM:610489
database_cross_reference: OMIM:614190
database_cross_reference: OMIM:615830
database_cross_reference: ORDO:189439
database_cross_reference: UMLS_CUI:C1864846
database_cross_reference: UMLS_CUI:C1864851
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/2212318
annotated source: primary pigmented nodular adrenocortical disease
annotated property: definition

photosensitive epilepsy
type: Class
subclass of: DOID 1826
creation date: 2015-02-04T16:15:55Z
definition: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
id: DOID:0060281
database_cross_reference: ICD10CM:G40.8
comment: NT MGI.
database_cross_reference: OMIM:132100
database_cross_reference: OMIM:609572
database_cross_reference: OMIM:609573
database_cross_reference: ORDO:166409
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: photogenic epilepsy
has_exact_synonym: photoparoxysmal response
in_subset: DO MGI slim

Axiom
annotated target: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
database_cross_reference: url:http://en.wikipedia.org/wiki/Photosensitive_epilepsy
annotated source: photosensitive epilepsy
annotated property: definition

persistent hyperplastic primary vitreous
type: Class
subclass of: DOID 9720
creation date: 2015-02-04T16:21:06Z
id: DOID:0060282
database_cross_reference: MSH:D054514
comment: NT MGI.
database_cross_reference: OMIM:221900
database_cross_reference: OMIM:611308
database_cross_reference: ORDO:91495
database_cross_reference: SNOMEDCT_US_2015_03_01:314270008
database_cross_reference: SNOMEDCT_US_2015_03_01:44647001
database_cross_reference: SNOMEDCT_US_2015_03_01:69927002
database_cross_reference: UMLS_CUI:C0266568
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

peeling skin syndrome
type: Class
subclass of: DOID 37
creation date: 2015-02-04T16:28:52Z
id: DOID:0060283
database_cross_reference: ICD10CM:Q80.8
comment: NT MGI.
database_cross_reference: OMIM:270300
database_cross_reference: OMIM:613088
database_cross_reference: ORDO:263543
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

paroxysmal nocturnal hemoglobinuria
type: Class
subclass of: DOID 582
creation date: 2015-02-04T16:30:50Z
id: DOID:0060284
database_cross_reference: HP:0004818
database_cross_reference: ICD10CM:D59.1
database_cross_reference: ICD10CM:D59.5
database_cross_reference: ICD10CM:D59.6
database_cross_reference: MSH:D006457
database_cross_reference: NCI:C61233
comment: NT MGI.
database_cross_reference: OMIM:300818
database_cross_reference: OMIM:615399
database_cross_reference: ORDO:447
database_cross_reference: SNOMEDCT_US_2015_03_01:127057004
database_cross_reference: SNOMEDCT_US_2015_03_01:1468004
database_cross_reference: SNOMEDCT_US_2015_03_01:154805009
database_cross_reference: SNOMEDCT_US_2015_03_01:191223003
database_cross_reference: SNOMEDCT_US_2015_03_01:191224009
database_cross_reference: SNOMEDCT_US_2015_03_01:191226006
database_cross_reference: SNOMEDCT_US_2015_03_01:1963002
database_cross_reference: SNOMEDCT_US_2015_03_01:234377003
database_cross_reference: SNOMEDCT_US_2015_03_01:267559009
database_cross_reference: UMLS_CUI:C0019050
database_cross_reference: UMLS_CUI:C0024790
database_cross_reference: UMLS_CUI:C0086774
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

parietal foramina
type: Class
subclass of: neural tube defect
creation date: 2015-02-04T16:36:15Z
has_exact_synonym: Caitlin marks
id: DOID:0060285
database_cross_reference: HP:0002697
database_cross_reference: MSH:C566826
comment: NT MGI.
database_cross_reference: OMIM:168500
database_cross_reference: OMIM:609566
database_cross_reference: OMIM:609597
database_cross_reference: ORDO:60015
database_cross_reference: UMLS_CUI:C1868598
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: enlarged parietal foramina
has_exact_synonym: hereditary cranium bifidum
in_subset: DO MGI slim

combined oxidative phosphorylation deficiency
type: Class
subclass of: DOID 700
creation date: 2015-02-04T16:56:52Z
id: DOID:0060286
comment: NT MGI.
database_cross_reference: OMIM:300816
database_cross_reference: OMIM:609060
database_cross_reference: OMIM:610498
database_cross_reference: OMIM:610505
database_cross_reference: OMIM:610678
database_cross_reference: OMIM:611719
database_cross_reference: OMIM:613559
database_cross_reference: OMIM:614096
database_cross_reference: OMIM:614582
database_cross_reference: OMIM:614702
database_cross_reference: OMIM:614922
database_cross_reference: OMIM:614924
database_cross_reference: OMIM:614932
database_cross_reference: OMIM:614946
database_cross_reference: OMIM:614947
database_cross_reference: OMIM:615395
database_cross_reference: OMIM:615440
database_cross_reference: OMIM:615578
database_cross_reference: OMIM:615595
database_cross_reference: OMIM:615917
database_cross_reference: OMIM:615918
database_cross_reference: OMIM:616045
database_cross_reference: OMIM:616198
database_cross_reference: OMIM:616239
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

cornea plana
type: Class
subclass of: corneal disease
creation date: 2015-02-04T17:04:28Z
id: DOID:0060287
database_cross_reference: HP:0007720
database_cross_reference: ICD10CM:Q13.4
comment: NT MGI.
database_cross_reference: OMIM:121400
database_cross_reference: OMIM:217300
database_cross_reference: ORDO:53691
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: flat cornea
in_subset: DO MGI slim

omodysplasia
type: Class
subclass of: DOID 2256
creation date: 2015-02-05T09:58:47Z
id: DOID:0060288
database_cross_reference: MSH:C537746
database_cross_reference: MSH:C567664
comment: NT MGI.
database_cross_reference: OMIM:164745
database_cross_reference: OMIM:258315
database_cross_reference: ORDO:2733
database_cross_reference: UMLS_CUI:C1850318
database_cross_reference: UMLS_CUI:C2750355
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Ohdo syndrome
type: Class
subclass of: DOID 225
creation date: 2015-02-05T10:03:42Z
definition: A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
id: DOID:0060289
database_cross_reference: MSH:C536232
comment: NT MGI.
database_cross_reference: OMIM:249620
database_cross_reference: OMIM:300895
database_cross_reference: ORDO:2728
has_exact_synonym: Ohdo blepharophimosis syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:412787009
database_cross_reference: UMLS_CUI:C0796094
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple
annotated source: Ohdo syndrome
annotated property: definition

blepharophimosis-intellectual disability syndrome, SBBYS type
type: Class
subclass of: Ohdo syndrome
creation date: 2015-02-05T10:07:12Z
id: DOID:0060290
database_cross_reference: MSH:C536717
comment: NT MGI.
database_cross_reference: OMIM:603736
database_cross_reference: ORDO:3047
has_exact_synonym: Ohdo syndrome, SBBYS Variant
has_related_synonym: SBBYSS
database_cross_reference: SNOMEDCT_US_2015_03_01:699298009
has_exact_synonym: Say-Barber-Biesecker-Young-Simpson syndrome
database_cross_reference: UMLS_CUI:C1863557
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

oculodentodigital dysplasia
type: Class
subclass of: DOID 225
creation date: 2015-02-05T10:12:23Z
definition: A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
id: DOID:0060291
database_cross_reference: MSH:C563160
comment: NT MGI.
has_exact_synonym: ODD syndrome
database_cross_reference: OMIM:164200
database_cross_reference: OMIM:257850
database_cross_reference: ORDO:2710
database_cross_reference: SNOMEDCT_US_2015_03_01:31291009
database_cross_reference: SNOMEDCT_US_2015_03_01:38215007
database_cross_reference: UMLS_CUI:C0812437
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
database_cross_reference: PMID:12021949
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia
database_cross_reference: url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia
annotated source: oculodentodigital dysplasia
annotated property: definition

X-linked chondrodysplasia punctata
type: Class
subclass of: DOID 2581
creation date: 2015-02-05T16:35:34Z
id: DOID:0060292
database_cross_reference: ICD10CM:Q77.3
database_cross_reference: MSH:C002806
comment: NT MGI.
database_cross_reference: OMIM:302950
database_cross_reference: OMIM:302960
database_cross_reference: ORDO:35173
has_exact_synonym: chondrodystrophia calcificans congenita
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

autosomal dominant chondrodysplasia punctata
type: Class
subclass of: DOID 2581
creation date: 2015-02-05T16:49:46Z
id: DOID:0060293
database_cross_reference: ICD10CM:Q77.3
comment: NT MGI.
database_cross_reference: OMIM:118650
database_cross_reference: OMIM:118651
database_cross_reference: OMIM:602497
database_cross_reference: ORDO:79344
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

cold-induced sweating syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2015-02-06T16:10:07Z
definition: An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene.
has_exact_synonym: Crisponi syndrome
id: DOID:0060294
database_cross_reference: MSH:C536214
comment: NT MGI.
database_cross_reference: OMIM:242730
database_cross_reference: OMIM:610313
database_cross_reference: ORDO:157820
database_cross_reference: SNOMEDCT_US_2015_03_01:702363009
has_exact_synonym: Sohar-Crisponi syndrome
database_cross_reference: UMLS_CUI:C1832409
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/
annotated source: cold-induced sweating syndrome
annotated property: definition

complement component 2 deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060295
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:217000
database_cross_reference: ORDO:169147
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

congenital secretory chloride diarrhea 1
type: Class
subclass of: secretory diarrhea
creation date: 2015-02-09T16:42:50Z
definition: A secretory diarrhea caused_by mutation in the SLC26A3 gene.
id: DOID:0060296
database_cross_reference: MSH:C536210
comment: NT MGI.
database_cross_reference: OMIM:214700
database_cross_reference: ORDO:53689
database_cross_reference: SNOMEDCT_US_2015_03_01:24412005
database_cross_reference: UMLS_CUI:C0267662
has_exact_synonym: congenital chloride diarrhea finnish type
has_exact_synonym: congenital chloridorrhea
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A secretory diarrhea caused_by mutation in the SLC26A3 gene.
database_cross_reference: OMIM:214700
annotated source: congenital secretory chloride diarrhea 1
annotated property: definition

complement component 4a deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060297
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:614380
database_cross_reference: ORDO:169147
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

complement component 4b deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060298
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:614379
database_cross_reference: ORDO:169147
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

complement component 6 deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060299
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:612446
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

complement component 7 deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060300
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:610102
database_cross_reference: ORDO:1695150
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

type I complement component 8 deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060301
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:613790
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

type II complement component 8 deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060302
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:613789
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

complement component 9 deficiency
type: Class
subclass of: DOID 626
creation date: 2015-02-09T15:32:25Z
id: DOID:0060303
database_cross_reference: ICD10CM:D84.1
comment: NT MGI.
database_cross_reference: OMIM:613825
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

dyschromatosis universalis hereditaria
type: Class
subclass of: pigmentation disease
creation date: 2015-02-09T16:53:42Z
definition: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
id: DOID:0060304
database_cross_reference: MSH:C535730
comment: NT MGI.
database_cross_reference: OMIM:127500
database_cross_reference: OMIM:612715
database_cross_reference: OMIM:615402
database_cross_reference: ORDO:241
database_cross_reference: UMLS_CUI:C2930995
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/12372090
annotated source: dyschromatosis universalis hereditaria
annotated property: definition

megalocornea
type: Class
subclass of: corneal disease
creation date: 2015-02-10T12:29:54Z
definition: A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene.
id: DOID:0060305
database_cross_reference: HP:0007660
database_cross_reference: MSH:C562829
comment: NT MGI.
database_cross_reference: OMIM:249300
database_cross_reference: OMIM:309300
database_cross_reference: ORDO:91489
database_cross_reference: SNOMEDCT_US_2015_03_01:204118005
database_cross_reference: SNOMEDCT_US_2015_03_01:204119002
database_cross_reference: SNOMEDCT_US_2015_03_01:268158009
database_cross_reference: SNOMEDCT_US_2015_03_01:388840007
database_cross_reference: SNOMEDCT_US_2015_03_01:39978004
database_cross_reference: UMLS_CUI:C0344530
has_exact_synonym: anterior megalophthalmos
has_exact_synonym: congenital anterior megalophthalmia
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Megalocornea
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/CHRDL1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/6849653
annotated source: megalocornea
annotated property: definition

Meier-Gorlin syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-02-10T12:40:39Z
definition: An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
id: DOID:0060306
database_cross_reference: MSH:C538012
comment: NT MGI.
database_cross_reference: OMIM:224690
database_cross_reference: OMIM:613800
database_cross_reference: OMIM:613803
database_cross_reference: OMIM:613804
database_cross_reference: OMIM:613805
database_cross_reference: ORDO:2554
database_cross_reference: SNOMEDCT_US_2015_03_01:703508009
database_cross_reference: UMLS_CUI:C1868684
has_obo_namespace: disease_ontology
has_exact_synonym: ear-patella-short stature syndrome
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/14564153
annotated source: Meier-Gorlin syndrome
annotated property: definition

autosomal dominant non-syndromic intellectual disability
type: Class
subclass of: non-syndromic intellectual disability
creation date: 2015-02-10T16:47:55Z
definition: A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
id: DOID:0060307
comment: NT MGI.
database_cross_reference: OMIM:156200
database_cross_reference: OMIM:612337
database_cross_reference: OMIM:612580
database_cross_reference: OMIM:612581
database_cross_reference: OMIM:612621
database_cross_reference: OMIM:613443
database_cross_reference: OMIM:613970
database_cross_reference: OMIM:614104
database_cross_reference: OMIM:614113
database_cross_reference: OMIM:614254
database_cross_reference: OMIM:614255
database_cross_reference: OMIM:614256
database_cross_reference: OMIM:614257
database_cross_reference: OMIM:614562
database_cross_reference: OMIM:614563
database_cross_reference: OMIM:614607
database_cross_reference: OMIM:614608
database_cross_reference: OMIM:614609
database_cross_reference: OMIM:615009
database_cross_reference: OMIM:615074
database_cross_reference: OMIM:615075
database_cross_reference: OMIM:615502
database_cross_reference: OMIM:615761
database_cross_reference: OMIM:615828
database_cross_reference: OMIM:615834
database_cross_reference: OMIM:615873
database_cross_reference: OMIM:615886
database_cross_reference: ORDO:178469
has_exact_synonym: autosomal dominant mental retardation
has_exact_synonym: autosomal dominant non-syndromic mental retardation
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21124998
annotated source: autosomal dominant non-syndromic intellectual disability
annotated property: definition

autosomal recessive non-syndromic intellectual disability
type: Class
subclass of: non-syndromic intellectual disability
creation date: 2015-02-11T10:32:11Z
definition: A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.
id: DOID:0060308
comment: NT MGI.
database_cross_reference: OMIM:249500
database_cross_reference: OMIM:607417
database_cross_reference: OMIM:608443
database_cross_reference: OMIM:611090
database_cross_reference: OMIM:611091
database_cross_reference: OMIM:611092
database_cross_reference: OMIM:611093
database_cross_reference: OMIM:611094
database_cross_reference: OMIM:611095
database_cross_reference: OMIM:611096
database_cross_reference: OMIM:611097
database_cross_reference: OMIM:611107
database_cross_reference: OMIM:614020
database_cross_reference: OMIM:614208
database_cross_reference: OMIM:614249
database_cross_reference: OMIM:614286
database_cross_reference: OMIM:614329
database_cross_reference: OMIM:614333
database_cross_reference: OMIM:614339
database_cross_reference: OMIM:614340
database_cross_reference: OMIM:614341
database_cross_reference: OMIM:614342
database_cross_reference: OMIM:614343
database_cross_reference: OMIM:614344
database_cross_reference: OMIM:614345
database_cross_reference: OMIM:614346
database_cross_reference: OMIM:614347
database_cross_reference: OMIM:614499
database_cross_reference: OMIM:614562
database_cross_reference: OMIM:615493
database_cross_reference: OMIM:615516
database_cross_reference: OMIM:615541
database_cross_reference: OMIM:615599
database_cross_reference: OMIM:615637
database_cross_reference: OMIM:615802
database_cross_reference: OMIM:615817
database_cross_reference: OMIM:615942
database_cross_reference: ORDO:88616
has_exact_synonym: autosomal recessive mental retardation
has_exact_synonym: autosomal recessive non-syndromic mental retardation
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21124998
annotated source: autosomal recessive non-syndromic intellectual disability
annotated property: definition

syndromic X-linked intellectual disability
type: Class
subclass of: syndromic intellectual disability
creation date: 2015-02-11T16:14:46Z
definition: A syndromic intellectual characterized by an X-linked inheritance pattern.
id: DOID:0060309
comment: NT MGI.
database_cross_reference: OMIM:300055
database_cross_reference: OMIM:300218
database_cross_reference: OMIM:300220
database_cross_reference: OMIM:300238
database_cross_reference: OMIM:300676
database_cross_reference: OMIM:300709
database_cross_reference: OMIM:300858
database_cross_reference: OMIM:300886
database_cross_reference: OMIM:304340
database_cross_reference: OMIM:309545
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: syndromic X-linked mental retardation
in_subset: DO MGI slim

Axiom
annotated target: A syndromic intellectual characterized by an X-linked inheritance pattern.
database_cross_reference: url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability
annotated source: syndromic X-linked intellectual disability
annotated property: definition

uvulitis
type: Class
subclass of: DOID 974
creation date: 2015-02-16T13:26:27Z
definition: An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
id: DOID:0060310
database_cross_reference: ICD10CM:K12.2
database_cross_reference: MEDDRA:10051962
comment: PRISM.
has_exact_synonym: acute uvulitis
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
database_cross_reference: url:http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/8285973
annotated source: uvulitis
annotated property: definition

adenoid hypertrophy
type: Class
subclass of: DOID 974
creation date: 2015-02-16T13:35:56Z
definition: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
id: DOID:0060311
database_cross_reference: ICD10CM:J35.2
database_cross_reference: ICD9CM:474.12
database_cross_reference: MEDDRA:10001229
comment: PRISM.
database_cross_reference: SNOMEDCT_US_2015_03_01:111591002
database_cross_reference: SNOMEDCT_US_2015_03_01:195795005
database_cross_reference: UMLS_CUI:C0149825
has_exact_synonym: adenoidal hypertrophy
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: enlarged adenoids

Axiom
annotated target: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_hypertrophy
database_cross_reference: url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/21126775
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm
annotated source: adenoid hypertrophy
annotated property: definition

angular cheilitis
type: Class
subclass of: DOID 1762
creation date: 2015-02-19T15:57:00Z
definition: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
id: DOID:0060312
database_cross_reference: ICD10CM:K13.0
database_cross_reference: MSH:D002613
database_cross_reference: NCI:C79545
comment: PRISM.
database_cross_reference: SNOMEDCT_US_2015_03_01:155664000
database_cross_reference: SNOMEDCT_US_2015_03_01:196557006
database_cross_reference: SNOMEDCT_US_2015_03_01:266495008
database_cross_reference: SNOMEDCT_US_2015_03_01:7847004
database_cross_reference: UMLS_CUI:C0007971
has_exact_synonym: angular cheilosis
has_exact_synonym: angular stomatitis
has_exact_synonym: cheilosis
has_exact_synonym: commissural cheilitis
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Angular_cheilitis
annotated source: angular cheilitis
annotated property: definition

tracheomalacia
type: Class
subclass of: DOID 3225
creation date: 2015-02-20T16:02:03Z
definition: A tracheal disease characterized by flaccidity of the tracheal support cartilage.
id: DOID:0060313
database_cross_reference: HP:0002779
database_cross_reference: ICD10CM:Q32.0
database_cross_reference: MSH:C557675
database_cross_reference: ORDO:95430
comment: PRISM.
database_cross_reference: SNOMEDCT_US_2015_03_01:95467005
database_cross_reference: UMLS_CUI:C0392109
has_exact_synonym: congenital tracheomalacia
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A tracheal disease characterized by flaccidity of the tracheal support cartilage.
database_cross_reference: url:http://en.wikipedia.org/wiki/Tracheomalacia
annotated source: tracheomalacia
annotated property: definition

persistent generalized lymphadenopathy
type: Class
subclass of: DOID 9942
creation date: 2015-02-23T14:33:26Z
definition: A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
id: DOID:0060314
database_cross_reference: HP:0008940
has_exact_synonym: PGL
comment: PRISM.
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
database_cross_reference: ISBN:978-0-443-06839-3
database_cross_reference: url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy
annotated source: persistent generalized lymphadenopathy
annotated property: definition

oral hairy leukoplakia
type: Class
subclass of: DOID 403
creation date: 2015-02-23T15:55:53Z
definition: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
id: DOID:0060315
database_cross_reference: ICD10CM:K13.3
database_cross_reference: MSH:D017733
database_cross_reference: NCI:C3722
database_cross_reference: SNOMEDCT_US_2015_03_01:196569003
database_cross_reference: SNOMEDCT_US_2015_03_01:414952002
database_cross_reference: SNOMEDCT_US_2015_03_01:58918007
database_cross_reference: UMLS_CUI:C0206186
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: hairy leukoplakia

Axiom
annotated target: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hairy_leukoplakia
annotated source: oral hairy leukoplakia
annotated property: definition

orofaciodigital syndrome I
type: Class
subclass of: DOID 4501
creation date: 2015-03-09T17:15:07Z
definition: An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
id: DOID:0060316
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:D009958
database_cross_reference: OMIM:311200
database_cross_reference: ORDO:2750
has_exact_synonym: Papillon-Leage-Psaume syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:1779005
database_cross_reference: SNOMEDCT_US_2015_03_01:239029009
database_cross_reference: SNOMEDCT_US_2015_03_01:403773005
database_cross_reference: SNOMEDCT_US_2015_03_01:52868006
database_cross_reference: UMLS_CUI:C0026363
database_cross_reference: UMLS_CUI:C0029294
database_cross_reference: UMLS_CUI:C1510460
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: orofaciodigital syndrome 1
has_exact_synonym: orofaciodigital syndrome type I
in_subset: DO MGI slim

Axiom
annotated target: An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
database_cross_reference: url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1
annotated source: orofaciodigital syndrome I
annotated property: definition

lung abscess
type: Class
subclass of: DOID 850
creation date: 2015-02-23T16:58:49Z
definition: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
id: DOID:0060317
database_cross_reference: ICD10CM:J85.2
database_cross_reference: ICD9CM:513.0
database_cross_reference: MSH:D008169
database_cross_reference: NCI:C99090
database_cross_reference: SNOMEDCT_US_2015_03_01:155618005
database_cross_reference: SNOMEDCT_US_2015_03_01:196113000
database_cross_reference: SNOMEDCT_US_2015_03_01:73452002
database_cross_reference: UMLS_CUI:C0024110
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lung_abscess
annotated source: lung abscess
annotated property: definition

acute promyelocytic leukemia
type: Class
subclass of: DOID 9119
creation date: 2015-02-24T16:50:50Z
has_exact_synonym: APL
definition: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
id: DOID:0060318
database_cross_reference: ICD10CM:C92.4
database_cross_reference: ICD10CM:C92.40
database_cross_reference: MSH:D015473
database_cross_reference: NCI:C3182
database_cross_reference: OMIM:612376
database_cross_reference: ORDO:520
database_cross_reference: SNOMEDCT_US_2015_03_01:110004001
database_cross_reference: SNOMEDCT_US_2015_03_01:28950004
database_cross_reference: UMLS_CUI:C0023487
has_exact_synonym: acute myeloblastic leukemia type 3
has_exact_synonym: acute myeloid leukemia M3
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
database_cross_reference: url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia
annotated source: acute promyelocytic leukemia
annotated property: definition

cardiac arrest
type: Class
subclass of: DOID 6000
creation date: 2015-02-25T15:12:30Z
definition: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
id: DOID:0060319
database_cross_reference: ICD10CM:I46
database_cross_reference: ICD9CM:427.5
database_cross_reference: MSH:D006323
database_cross_reference: NCI:C50479
database_cross_reference: NCI:C50483
database_cross_reference: SNOMEDCT_US_2015_03_01:155372006
database_cross_reference: SNOMEDCT_US_2015_03_01:195085006
database_cross_reference: SNOMEDCT_US_2015_03_01:195090009
database_cross_reference: SNOMEDCT_US_2015_03_01:233926006
database_cross_reference: SNOMEDCT_US_2015_03_01:251189000
database_cross_reference: SNOMEDCT_US_2015_03_01:30298009
database_cross_reference: SNOMEDCT_US_2015_03_01:309810002
database_cross_reference: SNOMEDCT_US_2015_03_01:397829000
database_cross_reference: SNOMEDCT_US_2015_03_01:397912004
database_cross_reference: SNOMEDCT_US_2015_03_01:410429000
database_cross_reference: SNOMEDCT_US_2015_03_01:410430005
database_cross_reference: UMLS_CUI:C0018790
database_cross_reference: UMLS_CUI:C0600228
has_exact_synonym: cardiopulmonary arrest
has_exact_synonym: circulatory arrest
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
database_cross_reference: ISBN:0-07-140235-7
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiac_arrest
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html
annotated source: cardiac arrest
annotated property: definition

inguinal hernia
type: Class
subclass of: DOID 5295
creation date: 2015-02-25T15:54:50Z
definition: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
id: DOID:0060320
database_cross_reference: HP:0000023
database_cross_reference: ICD10CM:K40
database_cross_reference: ICD10CM:K40.90
database_cross_reference: ICD9CM:550
database_cross_reference: MSH:D006552
database_cross_reference: NCI:C34690
database_cross_reference: NCI:C34691
database_cross_reference: NCI:C34692
database_cross_reference: SNOMEDCT_US_2015_03_01:155738001
database_cross_reference: SNOMEDCT_US_2015_03_01:155741005
database_cross_reference: SNOMEDCT_US_2015_03_01:155744002
database_cross_reference: SNOMEDCT_US_2015_03_01:196800008
database_cross_reference: SNOMEDCT_US_2015_03_01:196822001
database_cross_reference: SNOMEDCT_US_2015_03_01:196827007
database_cross_reference: SNOMEDCT_US_2015_03_01:196828002
database_cross_reference: SNOMEDCT_US_2015_03_01:261478001
database_cross_reference: SNOMEDCT_US_2015_03_01:261480007
database_cross_reference: SNOMEDCT_US_2015_03_01:266440002
database_cross_reference: SNOMEDCT_US_2015_03_01:266508004
database_cross_reference: SNOMEDCT_US_2015_03_01:266509007
database_cross_reference: SNOMEDCT_US_2015_03_01:266510002
database_cross_reference: SNOMEDCT_US_2015_03_01:286968003
database_cross_reference: SNOMEDCT_US_2015_03_01:286969006
database_cross_reference: SNOMEDCT_US_2015_03_01:396232000
database_cross_reference: SNOMEDCT_US_2015_03_01:44297005
database_cross_reference: SNOMEDCT_US_2015_03_01:65626001
database_cross_reference: SNOMEDCT_US_2015_03_01:73147001
database_cross_reference: UMLS_CUI:C0019294
database_cross_reference: UMLS_CUI:C0019295
database_cross_reference: UMLS_CUI:C0019296
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
database_cross_reference: url:http://en.wikipedia.org/wiki/Inguinal_hernia
annotated source: inguinal hernia
annotated property: definition

umbilical hernia
type: Class
subclass of: DOID 5295
creation date: 2015-02-25T15:58:35Z
definition: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
id: DOID:0060321
database_cross_reference: HP:0001537
database_cross_reference: ICD10CM:Q79.2
database_cross_reference: ICD9CM:756.72
database_cross_reference: MSH:D006554
database_cross_reference: NCI:C98997
database_cross_reference: SNOMEDCT_US_2015_03_01:157007005
database_cross_reference: SNOMEDCT_US_2015_03_01:18735004
database_cross_reference: SNOMEDCT_US_2015_03_01:196854005
database_cross_reference: SNOMEDCT_US_2015_03_01:196872004
database_cross_reference: SNOMEDCT_US_2015_03_01:205516007
database_cross_reference: SNOMEDCT_US_2015_03_01:271017007
database_cross_reference: SNOMEDCT_US_2015_03_01:396347007
database_cross_reference: SNOMEDCT_US_2015_03_01:49324006
database_cross_reference: SNOMEDCT_US_2015_03_01:5867007
database_cross_reference: UMLS_CUI:C0795690
database_cross_reference: UMLS_CUI:C1306503
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
database_cross_reference: url:en.wikipedia.org/wiki/Umbilical_hernia
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630
annotated source: umbilical hernia
annotated property: definition

mastoiditis
type: Class
subclass of: DOID 3342
creation date: 2015-02-25T16:29:09Z
definition: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
id: DOID:0060322
database_cross_reference: HP:0000265
database_cross_reference: ICD10CM:H70.9
database_cross_reference: ICD10CM:H70.90
database_cross_reference: ICD9CM:383.9
database_cross_reference: MSH:D008417
database_cross_reference: SNOMEDCT_US_2015_03_01:155230007
database_cross_reference: SNOMEDCT_US_2015_03_01:194309002
database_cross_reference: SNOMEDCT_US_2015_03_01:52404001
database_cross_reference: UMLS_CUI:C0024904
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mastoiditis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm
annotated source: mastoiditis
annotated property: definition

breast abscess
type: Class
subclass of: DOID 3463
creation date: 2015-02-25T17:21:01Z
definition: A breast disease characterized by a collection of pus in the breast.
id: DOID:0060323
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A breast disease characterized by a collection of pus in the breast.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess
annotated source: breast abscess
annotated property: definition

dental abscess
type: Class
subclass of: tooth disease
creation date: 2015-02-25T17:25:03Z
definition: A tooth disease characterized by a localized collection of pus associated with a tooth.
id: DOID:0060324
database_cross_reference: ICD10CM:K04.6
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A tooth disease characterized by a localized collection of pus associated with a tooth.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dental_abscess
annotated source: dental abscess
annotated property: definition

cervical polyp
type: Class
subclass of: DOID 2253
creation date: 2015-02-25T17:33:54Z
definition: A cervix disease characterized by a benign polyp on the surface of the cervical canal.
id: DOID:0060325
database_cross_reference: HP:0030159
database_cross_reference: ICD10CM:D26
database_cross_reference: ICD10CM:D26.9
database_cross_reference: ICD9CM:219
database_cross_reference: SNOMEDCT_US_2015_03_01:154628008
database_cross_reference: SNOMEDCT_US_2015_03_01:189107007
database_cross_reference: UMLS_CUI:C0153996
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A cervix disease characterized by a benign polyp on the surface of the cervical canal.
database_cross_reference: ISBN:3-7186-5857-7
database_cross_reference: url:http://en.wikipedia.org/wiki/Cervical_polyp
annotated source: cervical polyp
annotated property: definition

myelomeningocele
type: Class
subclass of: spina bifida
creation date: 2015-02-25T17:47:25Z
definition: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
id: DOID:0060326
database_cross_reference: HP:0002475
database_cross_reference: ICD10CM:Q05
database_cross_reference: MSH:D008591
database_cross_reference: NCI:C101201
database_cross_reference: NCI:C98874
database_cross_reference: SNOMEDCT_US_2015_03_01:156890007
database_cross_reference: SNOMEDCT_US_2015_03_01:203984008
database_cross_reference: SNOMEDCT_US_2015_03_01:203988006
database_cross_reference: SNOMEDCT_US_2015_03_01:203989003
database_cross_reference: SNOMEDCT_US_2015_03_01:203993009
database_cross_reference: SNOMEDCT_US_2015_03_01:203994003
database_cross_reference: SNOMEDCT_US_2015_03_01:203995002
database_cross_reference: SNOMEDCT_US_2015_03_01:203999008
database_cross_reference: SNOMEDCT_US_2015_03_01:268308005
database_cross_reference: SNOMEDCT_US_2015_03_01:414667000
database_cross_reference: SNOMEDCT_US_2015_03_01:7096005
database_cross_reference: SNOMEDCT_US_2015_03_01:82058009
database_cross_reference: UMLS_CUI:C0025312
database_cross_reference: UMLS_CUI:C0086664
database_cross_reference: UMLS_CUI:C0751316
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm
annotated source: myelomeningocele
annotated property: definition

omphalocele
type: Class
subclass of: physical disorder
creation date: 2015-02-25T17:54:05Z
definition: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
id: DOID:0060327
database_cross_reference: HP:0001539
database_cross_reference: ICD10CM:Q79.2
database_cross_reference: ICD9CM:756.72
database_cross_reference: MSH:D006554
database_cross_reference: NCI:C98997
database_cross_reference: OMIM:164750
database_cross_reference: SNOMEDCT_US_2015_03_01:157007005
database_cross_reference: SNOMEDCT_US_2015_03_01:18735004
database_cross_reference: SNOMEDCT_US_2015_03_01:196854005
database_cross_reference: SNOMEDCT_US_2015_03_01:196872004
database_cross_reference: SNOMEDCT_US_2015_03_01:205516007
database_cross_reference: SNOMEDCT_US_2015_03_01:271017007
database_cross_reference: SNOMEDCT_US_2015_03_01:396347007
database_cross_reference: SNOMEDCT_US_2015_03_01:49324006
database_cross_reference: SNOMEDCT_US_2015_03_01:5867007
database_cross_reference: UMLS_CUI:C0795690
database_cross_reference: UMLS_CUI:C1306503
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: omphalocoele

Axiom
annotated target: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
database_cross_reference: url:http://en.wikipedia.org/wiki/Omphalocele
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm
annotated source: omphalocele
annotated property: definition

anal fistula
type: Class
subclass of: DOID 1285
creation date: 2015-02-25T19:05:13Z
definition: An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
id: DOID:0060328
database_cross_reference: HP:0010447
database_cross_reference: ICD10CM:K60.3
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Anal_fistula
annotated source: anal fistula
annotated property: definition

ectopic pregnancy
type: Class
subclass of: DOID 229
creation date: 2015-02-25T19:27:50Z
definition: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
id: DOID:0060329
database_cross_reference: ICD10CM:O00
database_cross_reference: ICD10CM:O00.9
database_cross_reference: ICD9CM:633
database_cross_reference: ICD9CM:633.9
database_cross_reference: MSH:D011271
database_cross_reference: NCI:C34945
database_cross_reference: SNOMEDCT_US_2015_03_01:156080003
database_cross_reference: SNOMEDCT_US_2015_03_01:156083001
database_cross_reference: SNOMEDCT_US_2015_03_01:198630007
database_cross_reference: SNOMEDCT_US_2015_03_01:34801009
database_cross_reference: UMLS_CUI:C0032987
has_obo_namespace: disease_ontology
has_exact_synonym: eccyesis
created by: elvira

Axiom
annotated target: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ectopic_pregnancy
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm
annotated source: ectopic pregnancy
annotated property: definition

Rapp-Hodgkin syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2015-03-12T13:47:30Z
definition: An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
id: DOID:0060330
database_cross_reference: OMIM:129400
database_cross_reference: ORDO:3022
comment: Part of AEC spectrum. Research more.
has_exact_synonym: anhidrotic ectodermal dysplasia with cleft lip/palate
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1
annotated source: Rapp-Hodgkin syndrome
annotated property: definition

mitochondrial complex V (ATP synthase) deficiency nuclear type 2
type: Class
subclass of: DOID 700
creation date: 2015-03-12T16:04:59Z
definition: A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21.
id: DOID:0060331
database_cross_reference: ICD10CM:G71.3
has_exact_synonym: MC5DN2
database_cross_reference: OMIM:614052
database_cross_reference: ORDO:1194
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
in_subset: DO MGI slim

Axiom
annotated target: A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21.
database_cross_reference: url:http://omim.org/entry/614052
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 2
annotated property: definition

mitochondrial complex V (ATP synthase) deficiency nuclear type 3
type: Class
subclass of: DOID 700
creation date: 2015-03-12T16:04:59Z
definition: A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13.
id: DOID:0060332
database_cross_reference: ICD10CM:E88.8
has_exact_synonym: MC5DN3
database_cross_reference: OMIM:614053
database_cross_reference: ORDO:254913
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13.
database_cross_reference: url:http://omim.org/entry/614053
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 3
annotated property: definition

mitochondrial complex V (ATP synthase) deficiency nuclear type 4
type: Class
subclass of: DOID 700
creation date: 2015-03-12T16:04:59Z
definition: A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q.
id: DOID:0060333
database_cross_reference: ICD10CM:E88.8
has_exact_synonym: MC5DN4
database_cross_reference: OMIM:615228
database_cross_reference: ORDO:254913
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q.
database_cross_reference: url:http://omim.org/entry/615228
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 4
annotated property: definition

transient neonatal diabetes mellitus
type: Class
subclass of: DOID_11717
creation date: 2015-03-12T16:59:58Z
definition: A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
id: DOID:0060334
database_cross_reference: ICD10CM:P70.2
database_cross_reference: OMIM:601410
database_cross_reference: OMIM:610374
database_cross_reference: OMIM:610582
database_cross_reference: ORDO:99886
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
database_cross_reference: PMID:17349054
database_cross_reference: url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus
annotated source: transient neonatal diabetes mellitus
annotated property: definition

autosomal dominant sideroblastic anemia
type: Class
subclass of: DOID 8955
creation date: 2015-04-16T10:44:34Z
definition: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
id: DOID:0060335
database_cross_reference: OMIM:182170
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sideroblastic_anemia
annotated source: autosomal dominant sideroblastic anemia
annotated property: definition

3-methylglutaconic aciduria
type: Class
subclass of: organic acidemia
creation date: 2015-04-16T10:50:48Z
id: DOID:0060336
database_cross_reference: ICD10CM:E71.1
database_cross_reference: MSH:C579867
database_cross_reference: OMIM:250950
database_cross_reference: OMIM:250951
database_cross_reference: OMIM:258501
database_cross_reference: OMIM:610198
database_cross_reference: OMIM:614739
database_cross_reference: OMIM:616271
database_cross_reference: ORDO:289902
database_cross_reference: ORDO:67046
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

CEDNIK syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-05-11T10:31:37Z
definition: An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
id: DOID:0060337
comment: Flybase.
database_cross_reference: MSH:C537943
database_cross_reference: OMIM:609528
database_cross_reference: ORDO:66631
database_cross_reference: UMLS_CUI:C1836033
has_exact_synonym: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
database_cross_reference: OMIM:609528
annotated target: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
annotated source: CEDNIK syndrome
annotated property: has_exact_synonym

Axiom
annotated target: An autosomal recessive disease caused by homozygous mutation the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
database_cross_reference: PMID:21073448
annotated source: CEDNIK syndrome
annotated property: definition

parameningeal embryonal rhabdomyosarcoma
type: Class
subclass of: DOID 3246
creation date: 2015-05-14T14:32:27Z
definition: An embryonal rhabdomyosarcoma located in the parameningeal region.
id: DOID:0060338
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: An embryonal rhabdomyosarcoma located in the parameningeal region.
database_cross_reference: PMID:10717216
database_cross_reference: PMID:23021437
annotated source: parameningeal embryonal rhabdomyosarcoma
annotated property: definition

chronic atrial and intestinal dysrhythmia
type: Class
subclass of: DOID 225
creation date: 2015-05-18T15:37:53Z
definition: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
has_exact_synonym: CAID syndrome
id: DOID:0060339
database_cross_reference: OMIM:616201
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction; caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
database_cross_reference: PMID:25282101
annotated source: chronic atrial and intestinal dysrhythmia
annotated property: definition

Axiom
annotated target: CAID syndrome
database_cross_reference: PMID:25282101
annotated source: chronic atrial and intestinal dysrhythmia
annotated property: has_exact_synonym

ciliopathy
type: Class
subclass of: DOID 630
creation date: 2015-05-21T10:41:29Z
definition: A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
id: DOID:0060340
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
database_cross_reference: PMID:18178628
database_cross_reference: PMID:21210154
database_cross_reference: url:http://en.wikipedia.org/wiki/Ciliopathy
annotated source: ciliopathy
annotated property: definition

agnathia-otocephaly complex
type: Class
subclass of: physical disorder
creation date: 2015-05-26T16:14:08Z
definition: A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
id: DOID:0060341
database_cross_reference: ICD10CM:Q18.2
database_cross_reference: OMIM:202650
database_cross_reference: ORDO:990
has_exact_synonym: agnathia-holoprosencephaly-situs inversus syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: dysgnathia complex agnathia-holoprosencephaly
created by: emitraka
has_exact_synonym: holoprosencephaly-agnathia
has_exact_synonym: otocephaly

Axiom
database_cross_reference: OMIM:202650
annotated target: dysgnathia complex agnathia-holoprosencephaly
annotated source: agnathia-otocephaly complex
annotated property: has_exact_synonym

Axiom
database_cross_reference: ORDO:990
annotated target: agnathia-holoprosencephaly-situs inversus syndrome
annotated source: agnathia-otocephaly complex
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:202650
annotated target: otocephaly
annotated source: agnathia-otocephaly complex
annotated property: has_exact_synonym

Axiom
database_cross_reference: OMIM:202650
annotated target: holoprosencephaly-agnathia
annotated source: agnathia-otocephaly complex
annotated property: has_exact_synonym

Axiom
annotated target: A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
database_cross_reference: PMID:17438667
annotated source: agnathia-otocephaly complex
annotated property: definition

acromelic frontonasal dysostosis
type: Class
subclass of: DOID 1934
creation date: 2015-05-26T16:44:46Z
definition: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
id: DOID:0060342
database_cross_reference: OMIM:603671
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
database_cross_reference: PMID:15264282
annotated source: acromelic frontonasal dysostosis
annotated property: definition

glucocorticoid-induced osteoporosis
type: Class
subclass of: DOID_11476
creation date: 2015-05-27T17:07:43Z
definition: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
id: DOID:0060343
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: steroid-induced osteoporosis

Axiom
annotated target: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
database_cross_reference: PMID:17566815
database_cross_reference: PMID:22870429
annotated source: glucocorticoid-induced osteoporosis
annotated property: definition

acrodermatitis chronica atrophicans
type: Class
subclass of: DOID 2722
creation date: 2015-05-28T14:45:56Z
definition: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
database_cross_reference: DERMO:0002165
id: DOID:0060344
has_exact_synonym: Herxheimer disease
database_cross_reference: ICD9CM:701.8
database_cross_reference: SNOMEDCT_US_2015_03_01:201079006
database_cross_reference: SNOMEDCT_US_2015_03_01:201088002
database_cross_reference: UMLS_CUI:C0029805
has_obo_namespace: disease_ontology
created by: emitraka
has_exact_synonym: primary diffuse atrophy
in_subset: GOLD

Axiom
annotated target: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans
database_cross_reference: url:www.dermis.net/dermisroot/en/35111/diagnose.htm
annotated source: acrodermatitis chronica atrophicans
annotated property: definition

bacillary angiomatosis
type: Class
subclass of: bartonellosis
creation date: 2015-05-28T16:26:12Z
definition: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
id: DOID:0060345
database_cross_reference: MSH:D016917
database_cross_reference: NCI:C3477
database_cross_reference: SNOMEDCT_US_2015_03_01:58213005
database_cross_reference: UMLS_CUI:C0085434
has_obo_namespace: disease_ontology
created by: emitraka
in_subset: GOLD

Axiom
annotated target: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
database_cross_reference: PMID:9407154
database_cross_reference: url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis
annotated source: bacillary angiomatosis
annotated property: definition

Native American myopathy
type: Class
subclass of: DOID 440
creation date: 2015-06-01T17:47:31Z
definition: A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13.
id: DOID:0060346
database_cross_reference: MSH:C538343
database_cross_reference: OMIM:255995
database_cross_reference: ORDO:168572
database_cross_reference: UMLS_CUI:C1850625
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; caused by homozygous mutation in the STAC3 gene on chromosome 12q13.
database_cross_reference: OMIM:255995
database_cross_reference: PMID:18553514
annotated source: Native American myopathy
annotated property: definition

acrorenal syndrome
type: Class
subclass of: DOID 225
creation date: 2015-06-04T14:51:42Z
definition: A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
id: DOID:0060347
database_cross_reference: MSH:C563159
database_cross_reference: OMIM:102520
database_cross_reference: OMIM:201310
database_cross_reference: UMLS_CUI:C3495490
has_obo_namespace: disease_ontology
created by: emitraka

Axiom
annotated target: A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
database_cross_reference: PMID:26019842
annotated source: acrorenal syndrome
annotated property: definition

hypoparathyroidism-retardation-dysmorphism syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-06-19T20:05:16Z
definition: An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.
id: DOID:0060348
has_exact_synonym: HRD syndrome
database_cross_reference: MSH:C537157
database_cross_reference: OMIM:241410
database_cross_reference: ORDO:2323
has_exact_synonym: Sanjad-Sakati syndrome
database_cross_reference: UMLS_CUI:C1855840
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: hypoparathyroidism with short stature, mental retardation and seizures

Axiom
annotated target: An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.
database_cross_reference: PMID:15645691
database_cross_reference: PMID:24339556
annotated source: hypoparathyroidism-retardation-dysmorphism syndrome
annotated property: definition

lymphedema, microcephaly and chorioretinopathy syndrome
type: Class
subclass of: DOID 225
creation date: 2015-06-24T22:12:55Z
definition: A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
id: DOID:0060349
database_cross_reference: MSH:C537711
database_cross_reference: ORDO:2526
database_cross_reference: UMLS_CUI:C1835265
has_exact_synonym: chorioretinal dysplasia-microcephaly-mental retardation syndrome
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: lymphedema and retinal folds with ficrocephaly and microphthalmos
has_exact_synonym: microcephaly lymphedema chorioretinal dysplasia
has_exact_synonym: microcephaly, lymphedema, chorioretinal dysplasia syndrome

Axiom
annotated target: A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
database_cross_reference: PMID:10482868
database_cross_reference: PMID:11302131
database_cross_reference: PMID:5936364
annotated source: lymphedema, microcephaly and chorioretinopathy syndrome
annotated property: definition

adenine phosphoribosyltransferase deficiency
type: Class
subclass of: DOID 9252
has_exact_synonym: 2,8-dihydroxyadenine urolithiasis
creation date: 2015-07-02T16:06:22Z
has_exact_synonym: APRT deficiency
definition: An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.
id: DOID:0060350
database_cross_reference: MSH:C538228
database_cross_reference: OMIM:614723
database_cross_reference: SNOMEDCT_US_2015_03_01:11852004
database_cross_reference: SNOMEDCT_US_2015_03_01:124274002
database_cross_reference: UMLS_CUI:C0268120
database_cross_reference: UMLS_CUI:C3665382
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.
database_cross_reference: PMID:20150536
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency
database_cross_reference: url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency
annotated source: adenine phosphoribosyltransferase deficiency
annotated property: definition

mitochondrial complex III deficiency nuclear type 2
type: Class
subclass of: DOID 700
creation date: 2015-07-14T16:24:56Z
definition: A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
id: DOID:0060351
has_exact_synonym: MC3DN2
database_cross_reference: OMIM:615157
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
database_cross_reference: PMID:21278747
database_cross_reference: url:http://www.omim.org/entry/615157
annotated source: mitochondrial complex III deficiency nuclear type 2
annotated property: definition

Kleefstra syndrome
type: Class
subclass of: DOID 225
creation date: 2015-07-14T16:49:09Z
has_exact_synonym: 9q subtelomeric deletion syndrome
has_exact_synonym: 9q-syndrome
has_exact_synonym: 9q34 deletion syndrome
definition: A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
id: DOID:0060352
database_cross_reference: MSH:C563043
database_cross_reference: OMIM:610253
database_cross_reference: ORDO:261494
database_cross_reference: UMLS_CUI:C0795833
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
database_cross_reference: PMID:15264279
database_cross_reference: PMID:21245904
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome
annotated source: Kleefstra syndrome
annotated property: definition

acrofacial dysostosis Cincinnati type
type: Class
subclass of: acrofacial dysostosis
creation date: 2015-07-15T16:37:59Z
definition: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11.
id: DOID:0060353
database_cross_reference: OMIM:616462
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11.
database_cross_reference: PMID:25913037
annotated source: acrofacial dysostosis Cincinnati type
annotated property: definition

Stormorken syndrome
type: Class
subclass of: DOID 2218
creation date: 2015-07-16T16:30:32Z
definition: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern.
id: DOID:0060354
database_cross_reference: MSH:C566108
database_cross_reference: OMIM:185070
database_cross_reference: ORDO:3204
database_cross_reference: UMLS_CUI:C1861451
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: thrombocytopathy, asplenia and miosis

Axiom
annotated target: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It is caused by heterozygous in the STM1 gene located in chromosome 11p15. It has an autosomal dominant inheritance pattern.
database_cross_reference: PMID:24619930
database_cross_reference: PMID:25577287
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome
annotated source: Stormorken syndrome
annotated property: definition

amyotrohpic lateral sclerosis type 22
type: Class
subclass of: DOID 332
creation date: 2015-07-22T11:37:41Z
has_exact_synonym: ALS 22
definition: An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35.
id: DOID:0060355
database_cross_reference: OMIM:616208
database_cross_reference: ORDO:803
has_exact_synonym: amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
has_exact_synonym: amyotrophic lateral sclerosis 22
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An amyotrophic lateral sclerosis caused_by mutation located_in TUBA4A gene located_in chromosome 2q35.
database_cross_reference: url:http://omim.org/entry/616208
annotated source: amyotrohpic lateral sclerosis type 22
annotated property: definition

Vici syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-08-19T16:22:27Z
definition: An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3.
id: DOID:0060356
database_cross_reference: MSH:C535566
database_cross_reference: OMIM:242840
database_cross_reference: ORDO:1493
database_cross_reference: UMLS_CUI:C1855772
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum

Axiom
annotated target: An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It is caused by mutation in the EPG5 gene located in chromosome 18q12.3.
database_cross_reference: PMID:21965116
database_cross_reference: PMID:23222957
database_cross_reference: url:https://en.wikipedia.org/wiki/Vici_syndrome
annotated source: Vici syndrome
annotated property: definition

chylomicron retention disease
type: Class
subclass of: DOID 3146
creation date: 2015-08-20T12:44:44Z
definition: A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1.
has_exact_synonym: Anderson disease
has_exact_synonym: CMRD
id: DOID:0060357
database_cross_reference: ICD10CM:E78.3
database_cross_reference: MSH:C535460
database_cross_reference: OMIM:246700
database_cross_reference: ORDO:71
database_cross_reference: SNOMEDCT_US_2015_03_01:190792005
database_cross_reference: SNOMEDCT_US_2015_03_01:702364003
database_cross_reference: UMLS_CUI:C0795956
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and is caused by mutations in the SAR1B gene located in chromosome 5q31.1.
database_cross_reference: PMID:10521380
database_cross_reference: PMID:20920215
database_cross_reference: PMID:3430059
database_cross_reference: PMID:3792776
database_cross_reference: url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease
annotated source: chylomicron retention disease
annotated property: definition

multiple acyl-CoA dehydrogenase deficiency
type: Class
subclass of: DOID 655
creation date: 2015-08-20T16:23:47Z
definition: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
id: DOID:0060358
database_cross_reference: ICD10CM:E71.313
has_exact_synonym: MAD deficiency
has_exact_synonym: MADD
database_cross_reference: MSH:D054069
database_cross_reference: NCI:C84907
database_cross_reference: NCI:C99102
database_cross_reference: OMIM:231680
database_cross_reference: ORDO:26791
database_cross_reference: SNOMEDCT_US_2015_03_01:22886006
database_cross_reference: UMLS_CUI:C0268596
database_cross_reference: UMLS_CUI:C1856401
database_cross_reference: UMLS_CUI:C1856403
database_cross_reference: UMLS_CUI:C1856405
has_obo_namespace: disease_ontology
has_exact_synonym: electron transfer flavoprotein deficiency
has_exact_synonym: electron transfer flavoprotein ubiquinone oxidoreductase deficiency
created by: elvira
has_exact_synonym: glutaric acidemia type 2
has_exact_synonym: glutaric aciduria type 2

Axiom
annotated target: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid,amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It is caused by mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
database_cross_reference: PMID:12815589
database_cross_reference: PMID:22580358
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii
database_cross_reference: url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2
annotated source: multiple acyl-CoA dehydrogenase deficiency
annotated property: definition

Sakati-Nyhan syndrome
type: Class
subclass of: DOID_12960
creation date: 2015-09-03T14:23:46Z
has_exact_synonym: ACPS with leg hypoplasia
definition: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
id: DOID:0060359
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MeSH:C537227
database_cross_reference: OMIM:101120
database_cross_reference: ORDO:3128
has_exact_synonym: Sakati-Nyhan-Tisdale syndrome
has_exact_synonym: acrocephalopolysyndactyly Type III
has_exact_synonym: acrocephalopolysyndactyly type 3
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
database_cross_reference: url:https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome
annotated source: Sakati-Nyhan syndrome
annotated property: definition

hereditary papulotranslucent acrokeratoderma
type: Class
subclass of: DOID 161
creation date: 2015-09-03T14:36:52Z
definition: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
id: DOID:0060360
database_cross_reference: MeSH:C566323
database_cross_reference: OMIM:101840
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
database_cross_reference: PMID:16409913
annotated source: hereditary papulotranslucent acrokeratoderma
annotated property: definition

punctate palmoplantar keratoderma
type: Class
subclass of: DOID 3390
creation date: 2015-09-03T14:50:46Z
definition: A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
id: DOID:0060361
database_cross_reference: ORDO:307967
database_cross_reference: UMLS_CUI:C1274216
has_obo_namespace: disease_ontology
created by: elvira
has_related_synonym: punctate keratosis palmoplantaris
has_exact_synonym: punctate palmoplantar hyperkeratosis

Axiom
annotated target: A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
database_cross_reference: url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate
annotated source: punctate palmoplantar keratoderma
annotated property: definition

punctate palmoplantar keratoderma type III
type: Class
subclass of: punctate palmoplantar keratoderma
creation date: 2015-09-03T15:31:19Z
id: DOID:0060362
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: MSH:C535653
database_cross_reference: OMIM:101850
database_cross_reference: ORDO:38
database_cross_reference: UMLS_CUI:C0545044
has_exact_synonym: acrokeratoelastoidosis of Costa
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: punctate palmoplantar hyperkeratosis type 3
has_exact_synonym: punctate palmoplantar keratoderma type 3

glycerol kinase deficiency
type: Class
subclass of: DOID 655
creation date: 2015-09-17T15:45:20Z
definition: An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21.
id: DOID:0060363
database_cross_reference: ICD10CM:E74.8
database_cross_reference: MSH:C538138
database_cross_reference: OMIM:307030
database_cross_reference: ORDO:408
database_cross_reference: UMLS_CUI:C0574108
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It is caused by mutation in the GK gene on chromosome Xp21.
database_cross_reference: PMID:22427807
database_cross_reference: url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency
annotated source: glycerol kinase deficiency
annotated property: definition

Galloway-Mowat syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-09-17T16:00:31Z
definition: An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.
id: DOID:0060364
has_exact_synonym: Galloway syndrome
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: MSH:C537548
database_cross_reference: OMIM:251300
database_cross_reference: ORDO:2065
database_cross_reference: UMLS_CUI:C0795949
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: microcephaly, hiatal hernia and nephrotic syndrome
has_exact_synonym: nephrosis-microcephaly syndrome
has_exact_synonym: nephrosis-neuronal dysmigration syndrome

Axiom
annotated target: An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.
database_cross_reference: PMID:20083416
database_cross_reference: PMID:26123727
database_cross_reference: url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome
annotated source: Galloway-Mowat syndrome
annotated property: definition

mandibulofacial dysostosis with alopecia
type: Class
subclass of: DOID 225
creation date: 2015-09-17T16:20:00Z
definition: A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
id: DOID:0060365
has_exact_synonym: MFDA
database_cross_reference: OMIM:616367
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
database_cross_reference: PMID:25772936
annotated source: mandibulofacial dysostosis with alopecia
annotated property: definition

Hennekam syndrome
type: Class
subclass of: DOID 75
creation date: 2015-09-17T16:36:59Z
definition: A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
id: DOID:0060366
has_exact_synonym: Hennekam lymphangiectasia-lymphedema syndrome
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MSH:C537255
database_cross_reference: OMIM:235510
database_cross_reference: OMIM:616006
database_cross_reference: ORDO:2136
database_cross_reference: UMLS_CUI:C0340834
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: lymphedem-lymphangiectasia-intellectual disability syndrome

Axiom
annotated target: A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It in inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
database_cross_reference: PMID:14564208
database_cross_reference: PMID:24870712
database_cross_reference: PMID:2624276
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Hennekam_syndrome
annotated source: Hennekam syndrome
annotated property: definition

autosomal dominant Parkinson disease 1
type: Class
subclass of: DOID_14330
creation date: 2015-09-17T16:48:14Z
definition: A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1.
id: DOID:0060367
database_cross_reference: OMIM:168601
database_cross_reference: ORDO:411601
has_exact_synonym: PARK1
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A Parkinson's disease caused by mutation in the alpha-synuclein gene, SNCA, on chromosome 4q22.1.
database_cross_reference: PMID:22315721
database_cross_reference: url:http://www.omim.org/entry/168601
annotated source: autosomal dominant Parkinson disease 1
annotated property: definition

autosomal recessive juvenile Parkinson disease 2
type: Class
subclass of: DOID_14330
creation date: 2015-09-17T16:56:33Z
definition: A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27.
id: DOID:0060368
database_cross_reference: OMIM:600116
database_cross_reference: ORDO:2828
has_exact_synonym: PARK2
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A Parkinson's disease caused by mutation in the parkin gene, PARK2, on chromosome 6q25.2-q27.
database_cross_reference: PMID:22315721
annotated source: autosomal recessive juvenile Parkinson disease 2
annotated property: definition

early-onset Parkinson disease 6
type: Class
subclass of: DOID_14330
creation date: 2015-09-17T17:00:11Z
definition: A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12.
id: DOID:0060369
database_cross_reference: OMIM:605909
database_cross_reference: ORDO:2828
has_exact_synonym: PARK6
has_exact_synonym: autosomal recessive early-onset Parkinson disease 6
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12.
database_cross_reference: PMID:22315721
annotated source: early-onset Parkinson disease 6
annotated property: definition

autosomal recessive early-onset Parkinson disease 7
type: Class
subclass of: DOID_14330
creation date: 2015-09-17T17:04:57Z
definition: A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
id: DOID:0060370
database_cross_reference: OMIM:606324
database_cross_reference: ORDO:2828
has_exact_synonym: PARK7
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
database_cross_reference: PMID:22315721
annotated source: autosomal recessive early-onset Parkinson disease 7
annotated property: definition

autosomal dominant Parkinson disease 8
type: Class
subclass of: DOID_14330
creation date: 2015-09-17T17:07:35Z
definition: A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12.
id: DOID:0060371
database_cross_reference: OMIM:607060
database_cross_reference: ORDO:411602
has_exact_synonym: PARK8
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A Parkinson's disease caused by heterozygous mutation in the gene encoding dardarin , LRRK2, located on chromosome 12q12.
database_cross_reference: PMID:22315721
annotated source: autosomal dominant Parkinson disease 8
annotated property: definition

autosomal recessive early-onset Parkinson disease 15
type: Class
subclass of: DOID_14330
creation date: 2015-09-17T17:13:37Z
definition: A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3.
id: DOID:0060372
database_cross_reference: OMIM:260300
database_cross_reference: ORDO:171695
has_exact_synonym: PARK15
has_exact_synonym: Parkinsonian-pyramidal syndrome
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: pallidopyramidal syndrome

Axiom
annotated target: A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3.
database_cross_reference: PMID:22315721
annotated source: autosomal recessive early-onset Parkinson disease 15
annotated property: definition

orofaciodigital syndrome III
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T14:58:32Z
id: DOID:0060373
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C557817
database_cross_reference: OMIM:258850
database_cross_reference: ORDO:2752
has_exact_synonym: Sugarman syndrome
database_cross_reference: UMLS_CUI:C0406726
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

orofaciodigital syndrome IV
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:00:19Z
has_exact_synonym: Baraitser-Burn syndrome
id: DOID:0060374
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C537133
has_exact_synonym: OFD4
database_cross_reference: OMIM:258860
database_cross_reference: ORDO:2753
database_cross_reference: UMLS_CUI:C0406727
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

orofaciodigital syndrome V
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:00:19Z
id: DOID:0060375
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C557819
has_exact_synonym: OFD5
database_cross_reference: OMIM:174300
database_cross_reference: ORDO:2919
database_cross_reference: UMLS_CUI:C1868118
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: orofaciodigital syndrome Thurston type
has_exact_synonym: polydactyly, postaxial, with median cleft of upper lip
in_subset: DO MGI slim

Joubert syndrome with orofaciodigital defect
type: Class
subclass of: Joubert syndrome
creation date: 2015-09-18T15:00:19Z
definition: A Joubert syndrome subtype with orofaciodigital defect.
id: DOID:0060376
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: MSH:C536531
has_exact_synonym: OFD6
database_cross_reference: OMIM:277170
database_cross_reference: ORDO:2754
database_cross_reference: UMLS_CUI:C2745997
has_exact_synonym: Varadi syndrome
has_exact_synonym: Varadi-Papp syndrome
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: orofaciodigital syndrome VI
in_subset: DO MGI slim

Axiom
annotated target: A Joubert syndrome subtype with orofaciodigital defect.
database_cross_reference: PMID:23716954
annotated source: Joubert syndrome with orofaciodigital defect
annotated property: definition

orofaciodigital syndrome VII
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:00:19Z
id: DOID:0060377
database_cross_reference: MSH:C563104
has_exact_synonym: OFD7
database_cross_reference: OMIM:608518
database_cross_reference: ORDO:90649
has_exact_synonym: Whelan syndrome
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

orofaciodigital syndrome VIII
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:00:19Z
id: DOID:0060378
has_exact_synonym: Edwards syndrome
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C557820
has_exact_synonym: OFD8
database_cross_reference: OMIM:300484
database_cross_reference: ORDO:2755
database_cross_reference: UMLS_CUI:C0796101
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

acrofacial dysostosis
type: Class
subclass of: DOID 1934
creation date: 2015-09-21T15:24:28Z
id: DOID:0060379
has_obo_namespace: disease_ontology
created by: elvira

orofaciodigital syndrome X
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:00:20Z
id: DOID:0060380
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C563491
has_exact_synonym: OFD10
database_cross_reference: OMIM:165590
database_cross_reference: ORDO:2756
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: orofaciodigital syndrome with fibular aplasia
in_subset: DO MGI slim

orofaciodigital syndrome XI
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:00:20Z
id: DOID:0060381
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C557821
database_cross_reference: OMIM:612913
database_cross_reference: ORDO:141000
database_cross_reference: UMLS_CUI:C2752048
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

orofaciodigital syndrome IX
type: Class
subclass of: DOID 4501
creation date: 2015-09-18T15:24:17Z
id: DOID:0060382
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MSH:C557818
has_exact_synonym: OFD9
database_cross_reference: OMIM:258865
database_cross_reference: ORDO:141007
database_cross_reference: UMLS_CUI:C0796102
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: orofaciodigital syndrome with retinal abnormalities
in_subset: DO MGI slim

acrofacial dysostosis Rodriguez type
type: Class
subclass of: acrofacial dysostosis
creation date: 2015-09-21T15:30:41Z
id: DOID:0060383
database_cross_reference: ICD10CM:Q75.4
database_cross_reference: MSH:C538183
database_cross_reference: OMIM:201170
database_cross_reference: ORDO:1788
database_cross_reference: UMLS_CUI:C1860119
has_exact_synonym: acrofacial dysostosis, syndrome of Rodriguez
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

acrofacial dysostosis, Catania type
type: Class
subclass of: acrofacial dysostosis
creation date: 2015-09-21T15:34:09Z
id: DOID:0060384
database_cross_reference: ICD10CM:Q75.4
database_cross_reference: MSH:C538182
database_cross_reference: OMIM:101805
database_cross_reference: ORDO:1786
has_exact_synonym: Opitz Mollica Sorge syndrome
has_exact_synonym: Opitz-Caltabiano syndrome
database_cross_reference: UMLS_CUI:C2931762
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

acrofacial dysostosis, Patagonia type
type: Class
subclass of: acrofacial dysostosis
creation date: 2015-09-21T15:38:31Z
id: DOID:0060385
database_cross_reference: ICD10CM:Q75.4
database_cross_reference: MSH:C538185
database_cross_reference: OMIM:601829
database_cross_reference: ORDO:1787
database_cross_reference: UMLS_CUI:C1866168
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Chilblain lupus
type: Class
subclass of: cutaneous lupus erythematosus
creation date: 2015-09-22T17:10:37Z
id: DOID:0060386
database_cross_reference: ICD10CM:L93.2
database_cross_reference: MSH:C535924
database_cross_reference: OMIM:610448
database_cross_reference: OMIM:614415
database_cross_reference: ORDO:90280
database_cross_reference: UMLS_CUI:C0024145
has_obo_namespace: disease_ontology
created by: elvira

chondrodysplasia Blomstrand type
type: Class
subclass of: DOID 2256
creation date: 2015-09-24T16:23:12Z
has_exact_synonym: Blomstrand lethal chondrodysplasia
id: DOID:0060387
database_cross_reference: ICD10CM:Q78.8
database_cross_reference: MSH:C537914
database_cross_reference: OMIM:205045
database_cross_reference: ORDO:50945
database_cross_reference: UMLS_CUI:C1859148
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosomal deletion syndrome
type: Class
subclass of: chromosomal disease
creation date: 2015-09-28T15:48:41Z
id: DOID:0060388
has_obo_namespace: disease_ontology
created by: elvira

chromosome 10q23 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T15:50:18Z
id: DOID:0060389
database_cross_reference: MSH:C567385
database_cross_reference: OMIM:612242
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

distal 10q deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:08:42Z
id: DOID:0060390
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C567182
database_cross_reference: OMIM:609625
database_cross_reference: ORDO:96148
has_exact_synonym: chromosome 10q26 deletion syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: distal monosomy 10q
created by: elvira
has_exact_synonym: monosomy 10qter
has_exact_synonym: telomeric deletion 10q
has_exact_synonym: terminal chromosome 10q26 deletion syndrome
in_subset: DO MGI slim

chromosome 13q14 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:14:46Z
id: DOID:0060391
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613884
database_cross_reference: ORDO:1587
has_exact_synonym: deletion 13q14
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 14q11-q22 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 14q11.2 microdeletion syndrome
creation date: 2015-09-28T16:18:44Z
id: DOID:0060392
database_cross_reference: OMIM:613457
database_cross_reference: ORDO:261120
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 15q11.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 15q11.2 microdeletion syndrome
creation date: 2015-09-28T16:21:07Z
id: DOID:0060393
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:615656
database_cross_reference: ORDO:261183
database_cross_reference: UMLS_CUI:C3180937
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 15q13.3 microdeletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 15q13.3 microdeletion syndrome
creation date: 2015-09-28T16:23:21Z
id: DOID:0060394
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C567439
database_cross_reference: OMIM:612001
database_cross_reference: ORDO:199318
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 15q24 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 15q24 microdeletion syndrome
creation date: 2015-09-28T16:25:55Z
id: DOID:0060395
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C579849
database_cross_reference: OMIM:613406
database_cross_reference: ORDO:94065
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 15q25 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:28:12Z
id: DOID:0060396
database_cross_reference: OMIM:614294
has_obo_namespace: disease_ontology
created by: elvira

chromosome 15q26-qter deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 15q26 deletion syndrome
creation date: 2015-09-28T16:30:51Z
id: DOID:0060397
has_exact_synonym: Drayer syndrome
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C567232
database_cross_reference: OMIM:612626
database_cross_reference: ORDO:1596
has_obo_namespace: disease_ontology
has_exact_synonym: distal 15q deletion syndrome
has_exact_synonym: distal monosomy 15q
created by: elvira
has_exact_synonym: telomeric 15q deletion syndrome
in_subset: DO MGI slim

chromosome 16p11.2 deletion syndrome, 220kb
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:35:34Z
id: DOID:0060398
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613444
database_cross_reference: ORDO:261222
has_obo_namespace: disease_ontology
has_exact_synonym: distal 16p11.2 microdeletion syndrome
created by: elvira
in_subset: DO MGI slim

chromosome 16p12.1 deletion syndrome, 520kb
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:36:57Z
id: DOID:0060399
database_cross_reference: OMIM:136570
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 16p12.2-p11.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 16p11.2-p12.2 microdeletion syndrome
has_exact_synonym: 16p11.2p12.2 microdeletion syndrome
creation date: 2015-09-28T16:42:38Z
id: DOID:0060400
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613604
database_cross_reference: ORDO:261211
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 16q22 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:46:03Z
id: DOID:0060401
database_cross_reference: OMIM:614541
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 17p13.1 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T16:49:53Z
id: DOID:0060402
database_cross_reference: MSH:D054221
database_cross_reference: OMIM:613776
has_obo_namespace: disease_ontology
created by: elvira

chromosome 17q11.2 deletion syndrome, 1.4Mb
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 17q11 microdeletion syndrome
creation date: 2015-09-28T16:52:05Z
id: DOID:0060403
database_cross_reference: ICD10CM:Q85.0
has_exact_synonym: NF1 microdeletion syndrome
database_cross_reference: OMIM:613675
database_cross_reference: ORDO:97685
has_exact_synonym: Van Asperen syndrome
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: neurofibromatosis type 1 microdeletion syndrome
in_subset: DO MGI slim

chromosome 17q12 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 17q12 microdeletion syndrome
creation date: 2015-09-28T16:55:38Z
id: DOID:0060404
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:614527
database_cross_reference: ORDO:261265
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 17q23.1-q23.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 17q23.1-q23.2 microdeletion syndrome
has_exact_synonym: 17q23.1q23.2 microdeletion syndrome
creation date: 2015-09-28T16:58:27Z
id: DOID:0060405
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613355
database_cross_reference: ORDO:261279
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 18p deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 18p- syndrome
creation date: 2015-09-28T17:01:47Z
id: DOID:0060406
has_exact_synonym: De Grouchy syndrome
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:146390
database_cross_reference: ORDO:1598
database_cross_reference: UMLS_CUI:C0432442
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 18p
in_subset: DO MGI slim

chromosome 18q deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 18q- syndrome
creation date: 2015-09-28T17:05:53Z
id: DOID:0060407
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C536580
database_cross_reference: OMIM:601808
database_cross_reference: ORDO:1600
has_exact_synonym: deletion 18q
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 18q
in_subset: DO MGI slim

chromosome 19q13.11 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 19q13.11 microdeletion syndrome
creation date: 2015-09-28T17:09:44Z
id: DOID:0060408
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613026
database_cross_reference: ORDO:217346
database_cross_reference: UMLS_CUI:C2751651
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 19q13.11
in_subset: DO MGI slim

chromosome 1p32-p31 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 1p31p32 microdeletion syndrome
creation date: 2015-09-28T17:12:14Z
id: DOID:0060409
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613735
database_cross_reference: ORDO:401986
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 1p36 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 1p36 deletion syndrome
creation date: 2015-09-28T17:14:10Z
id: DOID:0060410
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C535362
database_cross_reference: OMIM:607872
database_cross_reference: ORDO:1606
database_cross_reference: UMLS_CUI:C1842870
has_exact_synonym: deletion 1p36
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 1p36
has_related_synonym: subtelomeric 1p36 deletion
in_subset: DO MGI slim

chromosome 1q21.1 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 1q21.1 microdeletion syndrome
creation date: 2015-09-28T17:17:38Z
id: DOID:0060411
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612474
database_cross_reference: ORDO:250989
has_obo_namespace: disease_ontology
created by: elvira
has_related_synonym: monosomy 1q21.1
in_subset: DO MGI slim

chromosome 1q41-q42 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_exact_synonym: 1q41-q42 microdeletion syndrome
has_exact_synonym: 1q41q42 microdeletion syndrome
creation date: 2015-09-28T17:24:43Z
id: DOID:0060412
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612530
database_cross_reference: ORDO:250999
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 22q11.2 deletion syndrome, distal
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:28:28Z
id: DOID:0060413
database_cross_reference: OMIM:611867
database_cross_reference: ORDO:261330
has_obo_namespace: disease_ontology
has_exact_synonym: distal 22q11.2 microdeletion syndrome
created by: elvira
in_subset: DO MGI slim

chromosome 2p12-p11.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:31:12Z
id: DOID:0060414
database_cross_reference: OMIM:613564
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 2p16.1-p15 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:32:44Z
has_related_synonym: 2p15-p16.1 microdeletion syndrome
has_exact_synonym: 2p15p16.1 microdeletion syndrome
id: DOID:0060415
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612513
database_cross_reference: ORDO:261349
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 2q31.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:36:55Z
id: DOID:0060416
database_cross_reference: OMIM:612345
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

3p- syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:38:32Z
id: DOID:0060417
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613792
database_cross_reference: ORDO:1620
has_exact_synonym: chromosome 3pter-P25 deletion syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: distal monosomy 3p
created by: elvira
in_subset: DO MGI slim

chromosome 3q13.31 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:42:28Z
has_exact_synonym: 3q13 microdeletion syndrome
id: DOID:0060418
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MSH:C536808
database_cross_reference: OMIM:615433
database_cross_reference: ORDO:1621
database_cross_reference: UMLS_CUI:C2931338
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 3q13
in_subset: DO MGI slim

chromosome 3q29 microdeletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:45:50Z
has_exact_synonym: 3q subtelomere deletion syndrome
has_exact_synonym: 3q29 microdeletion syndrome
has_exact_synonym: 3qter deletion
id: DOID:0060419
database_cross_reference: MSH:C567184
database_cross_reference: OMIM:609425
database_cross_reference: ORDO:65286
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 4q21 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:49:18Z
has_exact_synonym: 4q21 microdeletion syndrome
id: DOID:0060420
database_cross_reference: OMIM:613509
database_cross_reference: ORDO:238750
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 4q21
in_subset: DO MGI slim

chromosome 5q12 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:52:47Z
id: DOID:0060421
database_cross_reference: OMIM:615668
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 6pter-p24 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:55:16Z
has_exact_synonym: 6p subtelomeric deletion syndrome
has_exact_synonym: 6p25 microdeletion syndrome
id: DOID:0060422
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612582
database_cross_reference: ORDO:96125
has_obo_namespace: disease_ontology
has_exact_synonym: distal monosomy 6p
created by: elvira
in_subset: DO MGI slim

chromosome 6q11-q14 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:58:28Z
id: DOID:0060423
database_cross_reference: OMIM:613544
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 6q24-q25 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T17:59:36Z
has_exact_synonym: 6q25 microdeletion syndrome
id: DOID:0060424
database_cross_reference: OMIM:612863
database_cross_reference: ORDO:251056
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 6q25
in_subset: DO MGI slim

chromosome 8q21.11 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-28T18:06:23Z
has_exact_synonym: 8q21.11 microdeletion syndrome
id: DOID:0060425
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:614230
database_cross_reference: ORDO:284160
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 19p13.13 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-29T15:26:36Z
id: DOID:0060426
database_cross_reference: OMIM:613638
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome Xp21 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-09-29T16:13:28Z
id: DOID:0060427
database_cross_reference: ICD10CM:Q99.8
database_cross_reference: OMIM:300679
database_cross_reference: ORDO:261476
has_exact_synonym: Xp21 microdeletion syndrome
has_exact_synonym: complex glycerol kinase deficiency
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy Xp21
in_subset: DO MGI slim

chromosome 2q32-q33 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
creation date: 2015-10-01T15:37:11Z
has_exact_synonym: 2q32-q33 microdeletion syndrome
has_exact_synonym: 2q32q33 microdeletion syndrome
id: DOID:0060428
has_exact_synonym: Glass syndrome
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612313
database_cross_reference: ORDO:251019
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: monosomy 2q32
has_exact_synonym: monosomy 2q32-q33
has_exact_synonym: monosomy 2q32q33
in_subset: DO MGI slim

chromosomal duplication syndrome
type: Class
subclass of: chromosomal disease
creation date: 2015-10-02T15:19:23Z
id: DOID:0060429
has_obo_namespace: disease_ontology
created by: elvira

chromosome 16p11.2 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-02T15:19:40Z
id: DOID:0060430
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:614671
database_cross_reference: ORDO:370079
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: proximal 16p11.2 microduplication syndrome
has_exact_synonym: proximal dup(16)(p11.2)
has_exact_synonym: proximal trisomy 16p11.2
in_subset: DO MGI slim

chromosome 16p13.3 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
has_exact_synonym: 16p13.3 microduplication syndrome
creation date: 2015-10-02T15:43:05Z
id: DOID:0060431
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:613458
database_cross_reference: ORDO:96078
has_obo_namespace: disease_ontology
has_exact_synonym: distal duplication 16p
has_exact_synonym: distal trisomy 16p
created by: elvira
has_exact_synonym: telomeric duplication 16p
in_subset: DO MGI slim

chromosome 17p13.3 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
has_exact_synonym: 17p13.3 duplication syndrome
has_exact_synonym: 17p13.3 microduplication syndrome
creation date: 2015-10-02T15:45:43Z
id: DOID:0060432
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:613215
database_cross_reference: ORDO:217385
has_exact_synonym: chromosome 17p13.3 centromeric duplication syndrome
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: trisomy 17p13.3
in_subset: DO MGI slim

chromosome 17q12 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
has_exact_synonym: 17q12 microduplication syndrome
creation date: 2015-10-02T15:49:05Z
id: DOID:0060433
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:614526
database_cross_reference: ORDO:261272
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: trisomy 17q12
in_subset: DO MGI slim

chromosome 17q21.31 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
has_exact_synonym: 17q21.31 microduplication syndrome
creation date: 2015-10-02T15:50:26Z
id: DOID:0060434
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:613533
database_cross_reference: ORDO:217340
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: trisomy 17q21.31
in_subset: DO MGI slim

chromosome 1q21.1 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
has_exact_synonym: 1q21.1 microduplication syndrome
creation date: 2015-10-02T16:58:42Z
id: DOID:0060435
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:612475
database_cross_reference: ORDO:250994
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: trisomy 1q21.1
in_subset: DO MGI slim

chromosome 22q11.2 microduplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-02T17:02:03Z
has_exact_synonym: 22q11.2 microduplication syndrome
id: DOID:0060436
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:608363
database_cross_reference: ORDO:1727
has_obo_namespace: disease_ontology
has_exact_synonym: duplication 22q11.2
created by: elvira
has_exact_synonym: trisomy 22q11.2
in_subset: DO MGI slim

chromosome 22q13 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-02T17:11:03Z
id: DOID:0060437
database_cross_reference: OMIM:615538
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Cole-Carpenter syndrome
type: Class
subclass of: DOID_12347
creation date: 2015-10-06T16:24:18Z
definition: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
id: DOID:0060438
database_cross_reference: ICD10CM:Q78.0
database_cross_reference: MSH:C535963
database_cross_reference: OMIM:112240
database_cross_reference: OMIM:616294
database_cross_reference: ORDO:2050
database_cross_reference: UMLS_CUI:C1862178
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Axiom
annotated target: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
database_cross_reference: PMID:10842295
annotated source: Cole-Carpenter syndrome
annotated property: definition

lysinuric protein intolerance
type: Class
subclass of: DOID 9252
creation date: 2015-10-13T15:04:00Z
definition: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
id: DOID:0060439
database_cross_reference: ICD10CM:E72.3
has_exact_synonym: LPI
database_cross_reference: MSH:C562687
database_cross_reference: OMIM:222700
database_cross_reference: ORDO:470
database_cross_reference: UMLS_CUI:C0268647
has_exact_synonym: dibasic amino aciduria II
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: hyperdibasic aminoaciduria

Axiom
annotated target: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
database_cross_reference: PMID:1155480
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1361/
database_cross_reference: url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance
annotated source: lysinuric protein intolerance
annotated property: definition

epithelial and subepithelial dystrophy
type: Class
subclass of: DOID 2566
creation date: 2015-10-16T16:37:13Z
id: DOID:0060440
has_obo_namespace: disease_ontology
created by: elvira

epithelial-stromal TGFBI dystrophy
type: Class
subclass of: DOID 2566
creation date: 2015-10-16T16:39:25Z
id: DOID:0060441
has_obo_namespace: disease_ontology
created by: elvira

stromal dystrophy
type: Class
subclass of: DOID 2566
creation date: 2015-10-16T16:39:25Z
id: DOID:0060442
has_obo_namespace: disease_ontology
created by: elvira

endothelial dystrophy
type: Class
subclass of: DOID 2566
creation date: 2015-10-16T16:39:25Z
id: DOID:0060443
has_obo_namespace: disease_ontology
created by: elvira

granular corneal dystrophy type II
type: Class
subclass of: epithelial-stromal TGFBI dystrophy
creation date: 2015-10-16T16:44:27Z
has_exact_synonym: CGD2
id: DOID:0060444
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C535474
database_cross_reference: OMIM:607541
database_cross_reference: ORDO:98963
database_cross_reference: UMLS_CUI:C1275685
has_exact_synonym: avellino corneal dystrophy
has_exact_synonym: combined granular-lattice corneal dystrophy
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: granular corneal dystrophy type 2
in_subset: DO MGI slim

congenital stromal corneal dystrophy
type: Class
subclass of: stromal dystrophy
creation date: 2015-10-16T17:09:23Z
has_exact_synonym: CSCD
id: DOID:0060445
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C566452
database_cross_reference: OMIM:610048
database_cross_reference: ORDO:101068
has_exact_synonym: congenital hereditary stromal dystrophy
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

X-linked endothelial corneal dystrophy
type: Class
subclass of: endothelial dystrophy
creation date: 2015-10-16T17:13:34Z
id: DOID:0060446
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C567587
database_cross_reference: OMIM:300779
database_cross_reference: ORDO:293621
has_exact_synonym: XECD
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

epithelial basement membrane dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
creation date: 2015-10-16T17:17:01Z
has_exact_synonym: Cogan corneal dystrophy
id: DOID:0060447
has_exact_synonym: EBMD
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C535477
database_cross_reference: OMIM:121820
database_cross_reference: ORDO:98956
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: microcystic corneal dystrophy
in_subset: DO MGI slim

Fleck corneal dystrophy
type: Class
subclass of: stromal dystrophy
creation date: 2015-10-16T17:20:34Z
id: DOID:0060448
has_exact_synonym: FCD
has_exact_synonym: Francois-Neetens speckled corneal dystrophy
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C563256
database_cross_reference: OMIM:121850
database_cross_reference: ORDO:98970
database_cross_reference: UMLS_CUI:C1562113
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

gelatinous drop-like corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
creation date: 2015-10-16T17:26:37Z
id: DOID:0060449
has_exact_synonym: GDCD
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C535480
database_cross_reference: OMIM:204870
database_cross_reference: ORDO:98957
database_cross_reference: UMLS_CUI:C0339273
has_exact_synonym: corneal amyloidosis
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: primary familial amyloidosis of the cornea
has_exact_synonym: subepithelial amyloidosis of the cornea
in_subset: DO MGI slim

Lisch epithelial corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
creation date: 2015-10-16T17:42:58Z
id: DOID:0060450
database_cross_reference: ICD10CM:H18.5
has_exact_synonym: LECD
database_cross_reference: MSH:C567588
database_cross_reference: OMIM:300778
database_cross_reference: ORDO:98955
has_exact_synonym: band-shaped and whorled microcystic
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Meesmann corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
creation date: 2015-10-16T17:45:27Z
id: DOID:0060451
database_cross_reference: ICD10CM:H18.5
has_exact_synonym: MECD
database_cross_reference: MSH:D053559
database_cross_reference: OMIM:122100
database_cross_reference: ORDO:98954
has_exact_synonym: Stocker-Holt dystrophy
database_cross_reference: UMLS_CUI:C0339277
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: juvenile hereditary epithelial dystrophy
in_subset: DO MGI slim

posterior amorphous corneal dystrophy
type: Class
subclass of: stromal dystrophy
creation date: 2015-10-16T17:48:04Z
id: DOID:0060452
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C567546
database_cross_reference: OMIM:612868
database_cross_reference: ORDO:98971
has_exact_synonym: PACD
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Reis-Bucklers corneal dystrophy
type: Class
subclass of: epithelial-stromal TGFBI dystrophy
creation date: 2015-10-16T17:51:03Z
id: DOID:0060453
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C535476
database_cross_reference: OMIM:608470
database_cross_reference: ORDO:98961
has_exact_synonym: RBCD
database_cross_reference: UMLS_CUI:C0339278
has_exact_synonym: anterior limiting membrane dystrophy type I
has_exact_synonym: corneal dystrophy of Bowman layer type I
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: geographic corneal dystrophy
has_exact_synonym: granular corneal dystrophy type III
in_subset: DO MGI slim

subepithelial mucinous corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
creation date: 2015-10-16T17:55:14Z
id: DOID:0060454
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C567547
database_cross_reference: OMIM:612867
database_cross_reference: ORDO:98959
has_exact_synonym: SMCD
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Thiel-Behnke corneal dystrophy
type: Class
subclass of: epithelial-stromal TGFBI dystrophy
creation date: 2015-10-16T17:57:16Z
id: DOID:0060455
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C535942
database_cross_reference: OMIM:602082
database_cross_reference: ORDO:98960
has_exact_synonym: TBCD
database_cross_reference: UMLS_CUI:C1562894
has_exact_synonym: Waardenburg-Jonker corneal dystrophy
has_exact_synonym: anterior limiting membrane dystrophy type II
has_exact_synonym: corneal dystrophy honeycomb-shaped
has_exact_synonym: corneal dystrophy of Bowman layer type II
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Schnyder corneal dystrophy
type: Class
subclass of: stromal dystrophy
creation date: 2015-10-16T18:01:14Z
id: DOID:0060456
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C535475
database_cross_reference: OMIM:121800
database_cross_reference: ORDO:98967
has_exact_synonym: SCCD
has_exact_synonym: Schnyder crystalline corneal dystrophy
database_cross_reference: UMLS_CUI:C0271287
has_exact_synonym: corneal dystrophy crystalline of Schnyder
has_exact_synonym: crystalline stromal dystrophy
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: hereditary crystalline stromal dystrophy of Schnyder
in_subset: DO MGI slim

posterior polymorphous corneal dystrophy
type: Class
subclass of: endothelial dystrophy
creation date: 2015-10-16T18:05:26Z
id: DOID:0060457
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MSH:C562745
database_cross_reference: OMIM:122000
database_cross_reference: OMIM:609140
database_cross_reference: OMIM:609141
database_cross_reference: ORDO:98973
has_exact_synonym: PPCD
has_exact_synonym: Schlichting dystrophy
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: hereditary polymorphus posterior corneal dystrophy
in_subset: DO MGI slim

chromosome 2q31.1 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-19T14:42:34Z
id: DOID:0060458
database_cross_reference: OMIM:613681
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

chromosome 3q29 microduplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-19T14:45:49Z
has_exact_synonym: 3q29 microduplication
id: DOID:0060459
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: MSH:C567626
database_cross_reference: OMIM:611936
database_cross_reference: ORDO:251038
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: trisomy 3q29
in_subset: DO MGI slim

chromosome 5p13 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-19T15:25:26Z
has_exact_synonym: 5p13 microduplication syndrome
id: DOID:0060460
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:613174
database_cross_reference: ORDO:329802
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: trisomy 5p13
in_subset: DO MGI slim

chromosome Xp11.23-p11.22 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
creation date: 2015-10-19T15:29:51Z
id: DOID:0060461
database_cross_reference: ICD10CM:Q99.8
database_cross_reference: OMIM:300801
database_cross_reference: ORDO:217377
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: microduplication Xp11.22-p11.23 syndrome
has_exact_synonym: trisomy Xp11.22-p11.23
in_subset: DO MGI slim

Desbuquois dysplasia
type: Class
subclass of: DOID 2256
creation date: 2015-11-02T16:22:42Z
definition: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
id: DOID:0060462
has_exact_synonym: Desbuquois syndrome
database_cross_reference: ICD10CM:Q78.8
database_cross_reference: MSH:C535943
database_cross_reference: OMIM:251450
database_cross_reference: OMIM:615777
database_cross_reference: ORDO:1425
database_cross_reference: UMLS_CUI:C0432242
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
in_subset: DO MGI slim

Axiom
annotated target: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
database_cross_reference: PMID:19853239
database_cross_reference: PMID:21037275
annotated source: Desbuquois dysplasia
annotated property: definition

NUT midline carcinoma
type: Class
subclass of: DOID 305
creation date: 2015-11-04T14:54:36Z
definition: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
id: DOID:0060463
database_cross_reference: NCI:C45716
database_cross_reference: UMLS_CUI:C1707291
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: nuclear protein in testis midline carcinoma

Axiom
annotated target: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
database_cross_reference: PMID:21221870
database_cross_reference: PMID:25685583
database_cross_reference: PMID:26378054
database_cross_reference: PMID:26402248
database_cross_reference: url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma
database_cross_reference: url:https://omim.org/entry/608749
database_cross_reference: url:https://omim.org/entry/608963
annotated source: NUT midline carcinoma
annotated property: definition

Feingold syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2015-11-04T16:11:58Z
definition: An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
id: DOID:0060464
has_exact_synonym: FGLDS
database_cross_reference: ICD10CM:Q87.8
has_exact_synonym: MODED syndrome
database_cross_reference: MSH:C537734
has_exact_synonym: ODED syndrome
database_cross_reference: OMIM:164280
database_cross_reference: OMIM:614326
database_cross_reference: ORDO:1305
has_exact_synonym: digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: microcephaly-digital anomalies-normal intelligence syndrome
has_exact_synonym: microcephaly-oculo-digito-esophageal-duodenal syndrome
has_exact_synonym: oculo-digito-esophageal-duodenal syndrome
in_subset: DO MGI slim

Axiom
annotated target: An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
database_cross_reference: PMID:14518066
database_cross_reference: PMID:16906565
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/feingold-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Feingold_syndrome
annotated source: Feingold syndrome
annotated property: definition

fibrochondrogenesis
type: Class
subclass of: DOID 2256
creation date: 2015-11-04T16:24:41Z
id: DOID:0060465
database_cross_reference: ICD10CM:Q77.7
database_cross_reference: MSH:C562524
database_cross_reference: OMIM:228520
database_cross_reference: OMIM:614524
database_cross_reference: ORDO:2021
database_cross_reference: UMLS_CUI:C0265282
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

gingival fibromatosis
type: Class
subclass of: DOID 3086
creation date: 2015-11-04T16:47:21Z
definition: A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
id: DOID:0060466
database_cross_reference: ICD10CM:K06.1
database_cross_reference: MSH:D005351
database_cross_reference: OMIM:135300
database_cross_reference: OMIM:605544
database_cross_reference: OMIM:609955
database_cross_reference: OMIM:611010
database_cross_reference: ORDO:2024
database_cross_reference: UMLS_CUI:C0399440
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: hereditary gingival fibromatosis
has_exact_synonym: hereditary gingival hyperplasia
in_subset: DO MGI slim

Axiom
annotated target: A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
database_cross_reference: PMID:11868160
database_cross_reference: PMID:17385395
annotated source: gingival fibromatosis
annotated property: definition

humeroradial synostosis
type: Class
subclass of: DOID_11971
creation date: 2015-11-11T21:29:39Z
id: DOID:0060467
database_cross_reference: ICD10CM:Q74.0
database_cross_reference: OMIM:143050
database_cross_reference: OMIM:236400
database_cross_reference: ORDO:3265
database_cross_reference: UMLS_CUI:C0431800
has_obo_namespace: disease_ontology
created by: elvira
has_related_synonym: humero-radial fusion
in_subset: DO MGI slim

Holt-Oram syndrome
type: Class
subclass of: autosomal dominant disease
creation date: 2015-11-17T16:06:23Z
definition: An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.
id: DOID:0060468
database_cross_reference: ICD10CM:Q87.2
database_cross_reference: MSH:C535326
database_cross_reference: OMIM:142900
database_cross_reference: ORDO:392
database_cross_reference: UMLS_CUI:C0265264
has_exact_synonym: atrio-digital syndrome
has_exact_synonym: atriodigital dysplasia
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: heart-hand syndrome

Axiom
annotated target: An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.
database_cross_reference: PMID:12223419
database_cross_reference: PMID:12436037
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome
annotated source: Holt-Oram syndrome
annotated property: definition

Miller-Dieker lissencephaly syndrome
type: Class
subclass of: DOID 225
creation date: 2015-11-17T16:22:00Z
definition: A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
id: DOID:0060469
database_cross_reference: ICD10CM:Q04.3
has_exact_synonym: MDS
has_exact_synonym: Miller-Dieker syndrome
database_cross_reference: OMIM:247200
database_cross_reference: ORDO:531
database_cross_reference: UMLS:C0265219
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
database_cross_reference: PMID:21239872
database_cross_reference: PMID:9473821
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome
annotated source: Miller-Dieker lissencephaly syndrome
annotated property: definition

salt and pepper syndrome
type: Class
subclass of: autosomal recessive disease
creation date: 2015-11-17T16:40:23Z
definition: An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation.
id: DOID:0060470
database_cross_reference: ORDO:370938
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: salt & pepper syndrome
has_exact_synonym: salt-and-pepper syndrome

Axiom
annotated target: An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation.
database_cross_reference: PMID:24026681
annotated source: salt and pepper syndrome
annotated property: definition

fetal valproate syndrome
type: Class
subclass of: DOID 225
creation date: 2015-11-17T16:47:50Z
definition: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
id: DOID:0060471
database_cross_reference: ICD10CM:Q86.8
database_cross_reference: MSH:C536525
database_cross_reference: OMIM:609442
database_cross_reference: ORDO:1906
database_cross_reference: UMLS_CUI:C0236026
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: fetal valproic acid syndrome

Axiom
annotated target: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
database_cross_reference: PMID:17090909
database_cross_reference: PMID:25400349
annotated source: fetal valproate syndrome
annotated property: definition

Kindler syndrome
type: Class
subclass of: DOID 37
creation date: 2015-11-17T16:54:49Z
definition: A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
id: DOID:0060472
database_cross_reference: MSH:C536321
database_cross_reference: OMIM:173650
database_cross_reference: ORDO:306539
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: hereditary acrokeratotic poikiloderma of Kindler-Weary
has_exact_synonym: poikiloderma of Kindler

Axiom
annotated target: A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
database_cross_reference: PMID:12668616
database_cross_reference: url:https://en.wikipedia.org/wiki/Kindler_syndrome
annotated source: Kindler syndrome
annotated property: definition

Kabuki syndrome
type: Class
subclass of: DOID 225
creation date: 2015-11-18T16:21:35Z
definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
id: DOID:0060473
database_cross_reference: ICD10CM:Q87.0
has_exact_synonym: KMS
has_exact_synonym: Kabuki make up syndrome
database_cross_reference: MSH:C537705
has_exact_synonym: Niikawa-Kuroki syndrome
database_cross_reference: OMIM:147920
database_cross_reference: OMIM:300867
database_cross_reference: ORDO:2322
database_cross_reference: UMLS_CUI:C0796004
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

Axiom
annotated target: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
database_cross_reference: PMID:25281733
database_cross_reference: PMID:25972376
database_cross_reference: PMID:26512256
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Kabuki_syndrome
annotated source: Kabuki syndrome
annotated property: definition

Chuvash polycythemia
type: Class
subclass of: primary polycythemia
creation date: 2015-11-18T16:42:50Z
has_exact_synonym: Chuvash erythromatosis
has_exact_synonym: Chuvash type polycythemia
id: DOID:0060474
database_cross_reference: ICD10CM:D75.1
database_cross_reference: OMIM:263400
database_cross_reference: ORDO:238557
has_exact_synonym: autosomal recessive benign erythrocytosis
has_obo_namespace: disease_ontology
created by: elvira
in_subset: DO MGI slim

childhood onset epileptic encephalopathy
type: Class
subclass of: DOID 1827
creation date: 2015-11-19T16:30:12Z
definition: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
id: DOID:0060475
has_exact_synonym: EEOC
database_cross_reference: OMIM:615369
has_obo_namespace: disease_ontology
created by: elvira

Axiom
annotated target: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
database_cross_reference: PMID:23708187
database_cross_reference: PMID:24207121
database_cross_reference: url:http://omim.org/entry/615369
annotated source: childhood onset epileptic encephalopathy
annotated property: definition

Perlman syndrome
type: Class
subclass of: DOID 225
creation date: 2015-11-20T16:04:30Z
definition: A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
id: DOID:0060476
database_cross_reference: ICD10CM:Q87.3
database_cross_reference: MSH:C536399
database_cross_reference: OMIM:267000
database_cross_reference: ORDO:2849
has_obo_namespace: disease_ontology
created by: elvira
has_exact_synonym: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
has_exact_synonym: nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
has_exact_synonym: renal hamartomas, nephroblastomatosis and fetal gigantism

Axiom
annotated target: A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
database_cross_reference: PMID:18780370
database_cross_reference: PMID:22306653
database_cross_reference: url:https://en.wikipedia.org/wiki/Perlman_syndrome
annotated source: Perlman syndrome
annotated property: definition

Zika fever
type: Class
subclass of: DOID 934
definition: A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes.
database_cross_reference: ICD10CM:A92.8

Axiom
annotated target: A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes.
database_cross_reference: url: http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx
database_cross_reference: url: https://en.wikipedia.org/wiki/Zika_fever
annotated source: Zika fever
annotated property: definition

Shwachman-Diamond syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
database_cross_reference: ICD10CM:D61.0
database_cross_reference: MSH:C537330
database_cross_reference: OMIM:260400
has_exact_synonym: Shwachman syndrome
has_exact_synonym: Shwachman-Bodian-Diamond syndrome
has_exact_synonym: pancreatic insufficiency and bone marrow dysfunction

Axiom
annotated target: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
database_cross_reference: PMID:18356737
database_cross_reference: PMID:22201042
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome
annotated source: Shwachman-Diamond syndrome
annotated property: definition

left ventricular noncompaction
type: Class
subclass of: intrinsic cardiomyopathy
definition: An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
database_cross_reference: OMIM:604169
database_cross_reference: ORDO:54260
has_exact_synonym: left ventricular hypertrabeculation

Axiom
annotated target: An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
database_cross_reference: PMID:16567565
annotated source: left ventricular noncompaction
annotated property: definition

Goldberg-Shprintzen syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
has_exact_synonym: Goldberg-Shprintzen megacolon syndrome
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MSH:C537279
database_cross_reference: OMIM:609460
database_cross_reference: ORDO:66629
database_cross_reference: UMLS_CUI:C1836123

Axiom
annotated target: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
database_cross_reference: url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome
database_cross_reference: PMID:15883926
database_cross_reference: PMID:23427148
annotated source: Goldberg-Shprintzen syndrome
annotated property: definition

oculoauricular syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MSH:C567416
database_cross_reference: OMIM:612109
database_cross_reference: ORDO:157962

Axiom
annotated target: A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
database_cross_reference: PMID:25574057
database_cross_reference: PMID:18423520
annotated source: oculoauricular syndrome
annotated property: definition

MEDNIK syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
database_cross_reference: OMIM:609313
database_cross_reference: ORDO:171851
has_exact_synonym: erythrokeratodermia variabilis 3
has_exact_synonym: erythrokeratodermia variabilis, Kamouraska type
has_exact_synonym: mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia

Axiom
annotated target: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
database_cross_reference: PMID:23423674
database_cross_reference: PMID:24754424
annotated source: MEDNIK syndrome
annotated property: definition

EAST syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
database_cross_reference: MSH:C557674
database_cross_reference: OMIM:612780
database_cross_reference: ORDO:199343
has_exact_synonym: SeSAME syndrome
database_cross_reference: UMLS_CUI:C2748572
has_exact_synonym: epilepsy, ataxia, sensorineural deafness and tubulopathy
has_exact_synonym: seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance

Axiom
annotated target: A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
database_cross_reference: PMID:19420365
database_cross_reference: PMID:19289823
database_cross_reference: PMID:23471908
annotated source: EAST syndrome
annotated property: definition

Mowat-Wilson syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
database_cross_reference: ICD10CM:Q43.1
database_cross_reference: MSH:C536990
database_cross_reference: OMIM:235730
database_cross_reference: ORDO:2152
database_cross_reference: UMLS_CUI:C1856113
has_exact_synonym: Hirschsprung disease mental retardation syndrome
has_exact_synonym: microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease

Axiom
annotated target: A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
database_cross_reference: PMID:17958891
database_cross_reference: PMID:23466526
annotated source: Mowat-Wilson syndrome
annotated property: definition

Perry syndrome
type: Class
subclass of: DOID 225
database_cross_reference: OMIM:168605
database_cross_reference: MSH:C566822
database_cross_reference: ORDO:178509
has_exact_synonym: parkinsonism with alveolar hypoventilation and mental depression
definition: A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK47027/
annotated target: A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.
annotated source: Perry syndrome
annotated property: definition

Pitt-Hopkins syndrome
type: Class
subclass of: DOID 225
database_cross_reference: ORDO:2896
database_cross_reference: MSH:C537403
definition: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: OMIM:610954
database_cross_reference: UMLS_CUI:C1970431

Axiom
database_cross_reference: url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome
database_cross_reference: PMID:17436255
database_cross_reference: PMID:26621827
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome
annotated target: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It is caused by heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
database_cross_reference: PMID:728011
annotated source: Pitt-Hopkins syndrome
annotated property: definition

neoplastic disease
type: Class
definition: A disease of cellular proliferation that results in an abnormal mass of tissue.
id: DOID:0070001
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A disease of cellular proliferation that results in an abnormal mass of tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Neoplasm
annotated source: neoplastic disease
annotated property: definition

blastoma
type: Class
subclass of: cell type cancer
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
id: DOID:0070003
has_obo_namespace: disease_ontology

Axiom
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast cells.
database_cross_reference: url:en.wikipedia.org/wiki/Blastoma
annotated source: blastoma
annotated property: definition

myeloma
type: Class
subclass of: DOID 4960
definition: A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
id: DOID:0070004
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
database_cross_reference: url:http://www.merck.com/mmhe/sec14/ch175/ch175c.html#sec14-ch175-ch175c-328
annotated source: myeloma
annotated property: definition

muscular disease
type: Class
subclass of: DOID 17
definition: A musculoskeletal system disease that affects the muscles.
id: DOID:0080000
has_obo_namespace: disease_ontology

Axiom
annotated target: A musculoskeletal system disease that affects the muscles.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html
annotated source: muscular disease
annotated property: definition

bone disease
type: Class
subclass of: DOID 65
definition: A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
id: DOID:0080001
has_alternative_id: DOID:1290
database_cross_reference: ICD10CM:M89.9
database_cross_reference: MSH:D001847
database_cross_reference: SNOMEDCT_US_2015_03_01:156814002
database_cross_reference: SNOMEDCT_US_2015_03_01:203524000
database_cross_reference: SNOMEDCT_US_2015_03_01:268126004
database_cross_reference: SNOMEDCT_US_2015_03_01:274145000
database_cross_reference: SNOMEDCT_US_2015_03_01:308147009
database_cross_reference: SNOMEDCT_US_2015_03_01:76069003
database_cross_reference: UMLS_CUI:C0005940
has_obo_namespace: disease_ontology
has_related_synonym: skeletal disease

Axiom
annotated target: A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bone_disease
database_cross_reference: url:http://www.dsls.usra.edu/meetings/bonehealth_2005/information/factsheet1.pdf
annotated source: bone disease
annotated property: definition

autosomal dominant disease
type: Class
id: DOID:0080002
has_obo_namespace: disease_ontology
deprecated: true

autosomal recessive disease
type: Class
id: DOID:0080003
has_obo_namespace: disease_ontology
deprecated: true

bone remodeling disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in formation or resorption abnormalities located_in bone.
id: DOID:0080005
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone disease that results_in formation or resorption abnormalities located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bone_remodeling
annotated source: bone remodeling disease
annotated property: definition

bone development disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
id: DOID:0080006
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dysplasia
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx
annotated source: bone development disease
annotated property: definition

bone deterioration disease
type: Class
subclass of: bone structure disease
definition: A bone structure disease that results_in change or damage of structure located_in bone.
id: DOID:0080007
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone structure disease that results_in change or damage of structure located_in bone.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm
annotated source: bone deterioration disease
annotated property: definition

ischemic bone disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in an interruption of blood supply located_in bone.
id: DOID:0080008
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone disease that results_in an interruption of blood supply located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Avascular_necrosis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm
annotated source: ischemic bone disease
annotated property: definition

X-linked dominant disease
type: Class
id: DOID:0080009
has_obo_namespace: disease_ontology
deprecated: true

bone structure disease
type: Class
subclass of: bone disease
definition: A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
id: DOID:0080010
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
database_cross_reference: url:http://en.wikipedia.org/wiki/Human_skeleton
annotated source: bone structure disease
annotated property: definition

bone resorption disease
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that results in an abnormal decrease of bone density or mass.
id: DOID:0080011
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone remodeling disease that results in an abnormal decrease of bone density or mass.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bone_resorption
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/11277085
annotated source: bone resorption disease
annotated property: definition

X-linked recessive disease
type: Class
id: DOID:0080012
has_obo_namespace: disease_ontology
deprecated: true

mitochondrial disease
type: Class
id: DOID:0080013
has_obo_namespace: disease_ontology
deprecated: true

chromosomal disease
type: Class
subclass of: DOID 630
definition: A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
id: DOID:0080014
has_obo_namespace: disease_ontology

Axiom
annotated target: A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chromosome_abnormality
database_cross_reference: url:http://www.genome.gov/11508982#al-5
database_cross_reference: url:http://www.rarechromo.org/html/chromosomesanddisorders.asp
annotated source: chromosomal disease
annotated property: definition

physical disorder
type: Class
subclass of: DOID 4
definition: A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
id: DOID:0080015
has_obo_namespace: disease_ontology

Axiom
annotated target: A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_disorder
annotated source: physical disorder
annotated property: definition

spina bifida
type: Class
subclass of: neural tube defect
id: DOID:0080016
has_obo_namespace: disease_ontology

olivopontocerebellar atrophy V
type: Class
id: DOID:0080017
has_exact_synonym: OPCA type 5
has_exact_synonym: OPCA with dementia and extrapyramidal signs
has_obo_namespace: disease_ontology
deprecated: true

dysbaric osteonecrosis
type: Class
subclass of: ischemic bone disease
definition: An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
has_exact_synonym: Caisson disease of bone
id: DOID:0080018
has_exact_synonym: DON
has_obo_namespace: disease_ontology

Axiom
annotated target: An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/d/dysbaric_osteonecrosis.aspx
annotated source: dysbaric osteonecrosis
annotated property: definition

metaphyseal dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
has_exact_synonym: Bakwin-Krida syndrome
id: DOID:0080019
database_cross_reference: OMIM:215050
has_exact_synonym: Pyle's disease
has_exact_synonym: Pyle-Cohn syndrome
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Metaphyseal_dysplasia
database_cross_reference: url:http://www.healthline.com/galecontent/metaphyseal-dysplasia
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx
annotated source: metaphyseal dysplasia
annotated property: definition

Jansen's metaphyseal chondrodysplasia
type: Class
subclass of: metaphyseal dysplasia
definition: A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
id: DOID:0080020
has_exact_synonym: Jansen Disease
has_exact_synonym: Jansen Metaphyseal Dysostosis
has_exact_synonym: Jansen metaphyseal chondrodysplasia
has_exact_synonym: Murk Jansen Type Metaphyseal Chondrodysplasia
has_obo_namespace: disease_ontology

Axiom
annotated target: A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
database_cross_reference: url:http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia
database_cross_reference: url:http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype
annotated source: Jansen's metaphyseal chondrodysplasia
annotated property: definition

Schmid metaphyseal chondrodysplasia
type: Class
subclass of: metaphyseal dysplasia
definition: A metaphyseal dysplasia that results_in dwarfism and bowed legs.
id: DOID:0080021
has_exact_synonym: Japanese type spondylometaphyseal dysplasia
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:156500
has_exact_synonym: Schmid type metaphyseal dysplasia
has_obo_namespace: disease_ontology

Axiom
annotated target: A metaphyseal dysplasia that results_in dwarfism and bowed legs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia
database_cross_reference: url:http://www.cigna.com/healthinfo/nord960.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/156500
annotated source: Schmid metaphyseal chondrodysplasia
annotated property: definition

McKusick type metaphyseal dysplasia
type: Class
subclass of: metaphyseal dysplasia
definition: A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair.
has_exact_synonym: Cartilage-Hair Hypoplasia
id: DOID:0080022
has_obo_namespace: disease_ontology

Axiom
annotated target: A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair.
database_cross_reference: url:http://children.webmd.com/mckusick-type-metaphyseal-chondrodysplasia
database_cross_reference: url:http://www.cigna.com/healthinfo/nord636.html
database_cross_reference: url:http://www.medterms.com/script/main/art.asp?articlekey=15730
annotated source: McKusick type metaphyseal dysplasia
annotated property: definition

Shwachman-Diamond type metaphyseal dysplasia
type: Class
subclass of: metaphyseal dysplasia
id: DOID:0080023
has_obo_namespace: disease_ontology

Pyles dysplasia
type: Class
id: DOID:0080024
has_obo_namespace: disease_ontology
deprecated: true

spondyloepiphyseal dysplasia congenita
type: Class
id: DOID:0080025
has_obo_namespace: disease_ontology
deprecated: true

otospondylomegaepiphyseal dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
has_exact_synonym: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
id: DOID:0080026
has_exact_synonym: NANCE-INSLEY SYNDROME
has_exact_synonym: NANCE-SWEENEY CHONDRODYSPLASIA
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:215150
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
database_cross_reference: url:http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia
database_cross_reference: url:http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/215150
annotated source: otospondylomegaepiphyseal dysplasia
annotated property: definition

spondyloepimetaphyseal dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
id: DOID:0080027
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252
annotated source: spondyloepimetaphyseal dysplasia
annotated property: definition

spondyloepimetaphyseal dysplasia, Strudwick type
type: Class
subclass of: spondyloepimetaphyseal dysplasia
definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
id: DOID:0080028
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:184250
has_obo_namespace: disease_ontology

Axiom
annotated target: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
database_cross_reference: url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346
annotated source: spondyloepimetaphyseal dysplasia, Strudwick type
annotated property: definition

autosomal recessive spinocerebellar ataxia 16
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080029
database_cross_reference: OMIM:615768
has_obo_namespace: disease_ontology
created by: lschriml

spondyloepimetaphyseal dysplasia, Missouri type
type: Class
subclass of: spondyloepimetaphyseal dysplasia
definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
id: DOID:0080030
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:602111
has_obo_namespace: disease_ontology

Axiom
annotated target: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/602111
annotated source: spondyloepimetaphyseal dysplasia, Missouri type
annotated property: definition

fibrous dysplasia
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
id: DOID:0080031
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone
database_cross_reference: url:http://orthoinfo.aaos.org/topic.cfm?topic=a00083
database_cross_reference: url:http://www.fibrousdysplasia.org/
database_cross_reference: url:http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm
annotated source: fibrous dysplasia
annotated property: definition

craniodiaphyseal dysplasia
type: Class
subclass of: DOID 4254
definition: An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
id: DOID:0080032
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
database_cross_reference: url:http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513
annotated source: craniodiaphyseal dysplasia
annotated property: definition

craniometaphyseal dysplasia
type: Class
subclass of: DOID 4254
definition: An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
id: DOID:0080033
database_cross_reference: OMIM:122860
database_cross_reference: OMIM:123000
database_cross_reference: OMIM:218300
database_cross_reference: OMIM:218400
database_cross_reference: OMIM:614099
database_cross_reference: OMIM:614378
database_cross_reference: ORDO:1522
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
database_cross_reference: url:http://children.webmd.com/craniometaphyseal-dysplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia
annotated source: craniometaphyseal dysplasia
annotated property: definition

endosteal hyperostosis
type: Class
definition: A hyperostosis of endosteal bone.
id: DOID:0080034
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A hyperostosis of endosteal bone.
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx
annotated source: endosteal hyperostosis
annotated property: definition

SOST-related sclerosing bone dysplasia
type: Class
subclass of: DOID 205
definition: A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
has_alternative_id: DOID:0080035
id: DOID:0080036
has_obo_namespace: disease_ontology
has_exact_synonym: van Buchem disease

Axiom
annotated target: A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx
database_cross_reference: url:http://www.healthline.com/galecontent/sclerosing-bone-dysplasias
database_cross_reference: url:http://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/269500
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152
annotated source: SOST-related sclerosing bone dysplasia
annotated property: definition

Worth's syndrome
type: Class
subclass of: DOID 205
definition: A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
id: DOID:0080037
has_exact_synonym: Worth syndrome
has_exact_synonym: autosomal dominant endosteal hyperostosis
has_exact_synonym: autosomal dominant osteosclerosis
has_exact_synonym: benign form of Worth hyperostosis corticalis generalisata with torus platinus
has_obo_namespace: disease_ontology

Axiom
annotated target: A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
database_cross_reference: url:http://en.wikipedia.org/wiki/Worth_syndrome
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/144750
annotated source: Worth's syndrome
annotated property: definition

pycnodysostosis
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
id: DOID:0080038
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pycnodysostosis
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/4611/Pycnodysostosis.aspx
database_cross_reference: url:http://www.medicinenet.com/pycnodysostosis/article.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/265800
annotated source: pycnodysostosis
annotated property: definition

axial osteomalacia
type: Class
subclass of: DOID 4254
definition: An osteosclerosis that results_in coarsening located_in trabecular bone.
id: DOID:0080039
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteosclerosis that results_in coarsening located_in trabecular bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Axial_osteomalacia
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/109130
annotated source: axial osteomalacia
annotated property: definition

fibrogenesis imperfecta ossium
type: Class
subclass of: DOID 225
definition: A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
has_exact_synonym: Baker's disease
id: DOID:0080040
has_obo_namespace: disease_ontology

Axiom
annotated target: A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
database_cross_reference: url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/7559718
annotated source: fibrogenesis imperfecta ossium
annotated property: definition

hypochondroplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
id: DOID:0080041
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypochondroplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/hypochondroplasia
database_cross_reference: url:http://www.healthline.com/galecontent/hypochondroplasia
database_cross_reference: url:http://www.mcllr.com/sinaibody.cfm?id=1523
database_cross_reference: url:http://www.medterms.com/script/main/art.asp?articlekey=9068
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1477/
database_cross_reference: url:http://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro.html
database_cross_reference: url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hypochondroplasia
annotated source: hypochondroplasia
annotated property: definition

autosomal recessive spinocerebellar ataxia 18
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080042
database_cross_reference: OMIM:616204
has_obo_namespace: disease_ontology
created by: lschriml

achondrogenesis
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
id: DOID:0080043
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
database_cross_reference: url:http://en.wikipedia.org/wiki/Achondrogenesis
database_cross_reference: url:http://www.healthline.com/galecontent/achondrogenesis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm
database_cross_reference: url:http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf
database_cross_reference: url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis
annotated source: achondrogenesis
annotated property: definition

hypochondrogenesis
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
id: DOID:0080044
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypochondrogenesis
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/hypochondrogenesis
database_cross_reference: url:http://www.healthline.com/galecontent/hypochondrogenesis
annotated source: hypochondrogenesis
annotated property: definition

Kniest dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
id: DOID:0080045
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/kniest-dysplasia
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6841
database_cross_reference: url:http://www.ksginfo.org/kniest.html
annotated source: Kniest dysplasia
annotated property: definition

Stickler syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:0080046
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:108300
database_cross_reference: OMIM:184840
database_cross_reference: OMIM:604841
has_obo_namespace: disease_ontology

pseudoachondroplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
id: DOID:0080047
has_alternative_id: DOID:14800
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:177170
has_exact_synonym: PSEUDOACHONDROPLASIA
has_exact_synonym: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
has_obo_namespace: disease_ontology
has_exact_synonym: pseudoachondroplastic dysplasia

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pseudoachondroplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/pseudoachondroplasia
database_cross_reference: url:http://www.healthline.com/galecontent/pseudoachondroplasia
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0
database_cross_reference: url:http://www.wheelessonline.com/ortho/pseudoachondroplasia
annotated source: pseudoachondroplasia
annotated property: definition

trichorhinophalangeal syndrome I
type: Class
definition: A
id: DOID:0080048
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A
database_cross_reference: url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/TRPS1
database_cross_reference: url:http://trpsa.org/trpsa_wp/
annotated source: trichorhinophalangeal syndrome I
annotated property: definition

acromesomelic dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism.
id: DOID:0080049
has_obo_namespace: disease_ontology

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism.
database_cross_reference: url:http://www.cigna.com/healthinfo/nord1087.html
database_cross_reference: url:http://www.questdiagnostics.com/kbase/nord/nord1087.htm
database_cross_reference: url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia
database_cross_reference: url:http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia
annotated source: acromesomelic dysplasia
annotated property: definition

acromesomelic dysplasia, Maroteaux type
type: Class
subclass of: acromesomelic dysplasia
definition: An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb.
id: DOID:0080050
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:602875
has_obo_namespace: disease_ontology

Axiom
annotated target: An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb.
database_cross_reference: pdf:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/602875
annotated source: acromesomelic dysplasia, Maroteaux type
annotated property: definition

acromesomelic dysplasia, Hunter-Thompson type
type: Class
subclass of: acromesomelic dysplasia
definition: An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
id: DOID:0080051
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:201250
has_exact_synonym: acromesomelic dwarfism
has_obo_namespace: disease_ontology

Axiom
annotated target: An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
database_cross_reference: pdf:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/omim/201250
annotated source: acromesomelic dysplasia, Hunter-Thompson type
annotated property: definition

acromesomelic dysplasia, Grebe type
type: Class
subclass of: acromesomelic dysplasia
definition: An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
id: DOID:0080052
has_exact_synonym: GREBE CHONDRODYSPLASIA
database_cross_reference: OMIM:200700
has_obo_namespace: disease_ontology

Axiom
annotated target: An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
database_cross_reference: pdf:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098
annotated source: acromesomelic dysplasia, Grebe type
annotated property: definition

Albright's hereditary osteodystrophy
type: Class
subclass of: DOID 4184
has_exact_synonym: Albright hereditary osteodystrophy
definition: An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
id: DOID:0080053
database_cross_reference: OMIM:103580
has_obo_namespace: disease_ontology
has_exact_synonym: pseudohypoparathyroidism type 1a

Axiom
annotated target: An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
database_cross_reference: pdf:http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf
database_cross_reference: url:http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770
annotated source: Albright's hereditary osteodystrophy
annotated property: definition

achondrogenesis type IA
type: Class
subclass of: achondrogenesis
definition: An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
id: DOID:0080054
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:200600
has_exact_synonym: achondrogenesis Houston-Harris type
has_obo_namespace: disease_ontology

Axiom
annotated target: An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
database_cross_reference: url:http://emedicine.medscape.com/article/941176-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1A
database_cross_reference: url:http://www.healthline.com/galecontent/achondrogenesis
annotated source: achondrogenesis type IA
annotated property: definition

achondrogenesis type IB
type: Class
subclass of: achondrogenesis
definition: An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
id: DOID:0080055
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:600972
has_exact_synonym: achondrogenesis Fraccaro type
has_obo_namespace: disease_ontology

Axiom
annotated target: An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
database_cross_reference: url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1B
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/achondrogenesis
database_cross_reference: url:http://www.healthline.com/galecontent/achondrogenesis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1516/
annotated source: achondrogenesis type IB
annotated property: definition

achondrogenesis type II
type: Class
subclass of: achondrogenesis
definition: An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
id: DOID:0080056
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:200610
has_obo_namespace: disease_ontology

Axiom
annotated target: An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Achondrogenesis_type_2
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/achondrogenesis
database_cross_reference: url:http://www.healthline.com/galecontent/achondrogenesis
annotated source: achondrogenesis type II
annotated property: definition

autosomal recessive spinocerebellar ataxia 15
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080057
database_cross_reference: OMIM:615705
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 14
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080058
database_cross_reference: OMIM:615386
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 7
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080059
database_cross_reference: OMIM:609270
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 12
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080060
database_cross_reference: OMIM:614322
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 2
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080061
database_cross_reference: OMIM:213200
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 13
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080062
database_cross_reference: OMIM:614831
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 11
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080063
database_cross_reference: OMIM:614229
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 17
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080064
database_cross_reference: OMIM:616127
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 19
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080065
database_cross_reference: OMIM:616291
has_obo_namespace: disease_ontology
created by: lschriml

autosomal recessive spinocerebellar ataxia 20
type: Class
subclass of: autosomal recessive cerebellar ataxia
creation date: 2015-10-07T14:55:44Z
id: DOID:0080066
database_cross_reference: OMIM:616354
has_obo_namespace: disease_ontology
created by: lschriml

Charcot-Marie-Tooth disease type 5
type: Class
subclass of: Charcot-Marie-Tooth disease
creation date: 2015-10-08T16:55:50Z
definition: A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
id: DOID:0080067
database_cross_reference: OMIM:600361
has_obo_namespace: disease_ontology
has_exact_synonym: hereditary motor and sensory neuropathy with pyramidal features
created by: lschriml

Axiom
annotated target: A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/12601114
database_cross_reference: url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications
annotated source: Charcot-Marie-Tooth disease type 5
annotated property: definition

Charcot-Marie-Tooth disease type 6
type: Class
subclass of: Charcot-Marie-Tooth disease
creation date: 2015-10-08T16:55:50Z
definition: A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
id: DOID:0080068
database_cross_reference: OMIM:601152
database_cross_reference: OMIM:616505
has_obo_namespace: disease_ontology
has_exact_synonym: hereditary motor and sensory neuropathy type 6
created by: lschriml

Axiom
annotated target: A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/26168012
database_cross_reference: url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications
annotated source: Charcot-Marie-Tooth disease type 6
annotated property: definition

Charcot-Marie-Tooth disease type 7
type: Class
subclass of: Charcot-Marie-Tooth disease
creation date: 2015-10-08T16:55:50Z
definition: A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa.
id: DOID:0080069
has_obo_namespace: disease_ontology
created by: lschriml

Axiom
annotated target: A Charcot-Marie-Tooth disease that is characterized optic atrophy followed by retinitis pigmentosa.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/25491489
annotated source: Charcot-Marie-Tooth disease type 7
annotated property: definition

inclusion-cell disease
type: Class
subclass of: DOID 3211
creation date: 2015-10-08T17:58:48Z
id: DOID:0080070
has_exact_synonym: I-cell disease
database_cross_reference: OMIM:252500
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: mucolipidosis II

pseudo-Hurler polydystrophy
type: Class
subclass of: DOID 3211
creation date: 2015-10-08T17:58:48Z
id: DOID:0080071
database_cross_reference: OMIM:252600
database_cross_reference: OMIM:252605
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: mucolipidosis III

neuronal intestinal dysplasia
type: Class
subclass of: DOID 5353
creation date: 2015-10-19T14:28:30Z
id: DOID:0080072
database_cross_reference: OMIM:243180
database_cross_reference: OMIM:601223
has_obo_namespace: disease_ontology
created by: lschriml

spina bifida occulta
type: Class
subclass of: spina bifida
creation date: 2015-10-19T14:35:47Z
id: DOID:0080073
has_obo_namespace: disease_ontology
created by: lschriml

neural tube defect
type: Class
subclass of: physical disorder
creation date: 2015-10-19T14:41:42Z
id: DOID:0080074
database_cross_reference: OMIM:301410
database_cross_reference: OMIM:601634
has_obo_namespace: disease_ontology
created by: lschriml

Neu-Laxova syndrome 2
type: Class
subclass of: serine deficiency
creation date: 2015-10-19T14:47:01Z
id: DOID:0080075
database_cross_reference: OMIM:616038
has_obo_namespace: disease_ontology
created by: lschriml

Neu-Laxova syndrome 1
type: Class
subclass of: serine deficiency
creation date: 2015-10-19T14:47:35Z
id: DOID:0080076
database_cross_reference: OMIM:256520
has_obo_namespace: disease_ontology
created by: lschriml

hypophosphatemic nephrolithiasis/osteoporosis 1
type: Class
subclass of: DOID_11705
creation date: 2015-10-19T14:52:42Z
id: DOID:0080077
database_cross_reference: OMIM:612286
has_obo_namespace: disease_ontology
created by: lschriml

hypophosphatemic nephrolithiasis/osteoporosis 2
type: Class
subclass of: DOID_11705
creation date: 2015-10-19T14:52:42Z
id: DOID:0080078
database_cross_reference: OMIM:612287
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 1
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:13:08Z
id: DOID:0080079
database_cross_reference: OMIM:161050
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: twenty-nail dystrophy

nonsyndromic congenital nail disorder 2
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080080
database_cross_reference: OMIM:149300
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 3
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080081
database_cross_reference: OMIM:151600
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 4
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080082
database_cross_reference: OMIM:206800
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 5
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080083
database_cross_reference: OMIM:164800
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 6
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080084
database_cross_reference: OMIM:107000
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 7
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080085
database_cross_reference: OMIM:605779
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 8
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080086
database_cross_reference: OMIM:607523
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 9
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080087
database_cross_reference: OMIM:614149
has_obo_namespace: disease_ontology
created by: lschriml

nonsyndromic congenital nail disorder 10
type: Class
subclass of: DOID 4123
creation date: 2015-11-09T15:18:20Z
id: DOID:0080088
database_cross_reference: OMIM:614157
has_obo_namespace: disease_ontology
created by: lschriml

tubular aggregate myopathy
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:53:39Z
id: DOID:0080089
database_cross_reference: OMIM:160565
database_cross_reference: OMIM:615883
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

reducing body myopathy
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:54:50Z
id: DOID:0080090
database_cross_reference: OMIM:300717
database_cross_reference: OMIM:300718
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

spheroid body myopathy
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:57:47Z
id: DOID:0080091
database_cross_reference: OMIM:182920
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

myofibrillar myopathy 1
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
id: DOID:0080092
database_cross_reference: OMIM:601419
has_exact_synonym: desminopathy
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

myofibrillar myopathy 2
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
id: DOID:0080093
database_cross_reference: OMIM:608810
has_exact_synonym: alpha-b crystallinopathy
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

myofibrillar myopathy 3
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
id: DOID:0080094
database_cross_reference: OMIM:609200
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: myotilinopathy
in_subset: DO MGI slim

myofibrillar myopathy 4
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
id: DOID:0080095
database_cross_reference: OMIM:609452
has_obo_namespace: disease_ontology
created by: lschriml
has_exact_synonym: zaspopathy
in_subset: DO MGI slim

myofibrillar myopathy 5
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
id: DOID:0080096
database_cross_reference: OMIM:609524
has_obo_namespace: disease_ontology
has_exact_synonym: filaminopathy
created by: lschriml
in_subset: DO MGI slim

myofibrillar myopathy 6
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
has_related_synonym: BAG3-related myofibrillar myopathy
id: DOID:0080097
database_cross_reference: OMIM:612954
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

myofibrillar myopathy 7
type: Class
subclass of: DOID 423
creation date: 2015-11-10T16:59:22Z
id: DOID:0080098
database_cross_reference: OMIM:613869
has_exact_synonym: alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

myopathy, lactic acidosis, and sideroblastic anemia
type: Class
subclass of: DOID 423
creation date: 2015-11-10T17:17:42Z
id: DOID:0080099
database_cross_reference: OMIM:500011
database_cross_reference: OMIM:600462
database_cross_reference: OMIM:613561
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

congenital myopathy
type: Class
subclass of: DOID 423
creation date: 2015-11-10T17:25:05Z
id: DOID:0080100
database_cross_reference: OMIM:255300
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

Compton-North congenital myopathy
type: Class
subclass of: congenital myopathy
creation date: 2015-11-10T17:27:15Z
id: DOID:0080101
database_cross_reference: OMIM:612540
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

congenital fiber-type disproportion
type: Class
subclass of: congenital myopathy
creation date: 2015-11-10T17:27:15Z
id: DOID:0080102
database_cross_reference: OMIM:255310
database_cross_reference: OMIM:300580
has_obo_namespace: disease_ontology
created by: lschriml

cylindrical spirals myopathy
type: Class
subclass of: congenital myopathy
creation date: 2015-11-10T17:27:15Z
id: DOID:0080103
database_cross_reference: OMIM:160990
has_obo_namespace: disease_ontology
created by: lschriml
in_subset: DO MGI slim

intestinal infectious disease
type: Class
subclass of: DOID 5295
definition: An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites.
id: DOID:100
has_alternative_id: DOID:10960
has_alternative_id: DOID:12509
has_alternative_id: DOID:5270
database_cross_reference: ICD10CM:A00-A09
database_cross_reference: ICD9CM:001-009.99
database_cross_reference: SNOMEDCT_US_2015_03_01:127322007
database_cross_reference: SNOMEDCT_US_2015_03_01:186086003
database_cross_reference: SNOMEDCT_US_2015_03_01:186171006
database_cross_reference: SNOMEDCT_US_2015_03_01:187266003
database_cross_reference: SNOMEDCT_US_2015_03_01:266071000
database_cross_reference: SNOMEDCT_US_2015_03_01:266172005
database_cross_reference: SNOMEDCT_US_2015_03_01:266180003
database_cross_reference: UMLS_CUI:C0178238
comment: Updating outdated UMLS CUI.
has_exact_synonym: bacterial enteritis
has_obo_namespace: disease_ontology

Axiom
annotated target: An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites.
database_cross_reference: url:http://en.wikipedia.org/wiki/Intestine
annotated source: intestinal infectious disease
annotated property: definition

visual cortex disorder due to neoplasm
type: Class
id: DOID:10000
has_obo_namespace: disease_ontology
deprecated: true

sensorineural hearing loss
type: Class
subclass of: DOID 2952
id: DOID:10003
has_alternative_id: DOID:11053
has_alternative_id: DOID:12112
has_alternative_id: DOID:12114
has_exact_synonym: High Frequency Hearing Loss
has_exact_synonym: High frequency deafness
database_cross_reference: ICD10CM:H90.5
database_cross_reference: ICD10CM:H91.9
database_cross_reference: ICD9CM:389.1
database_cross_reference: ICD9CM:389.10
database_cross_reference: ICD9CM:389.14
database_cross_reference: MSH:D006313
database_cross_reference: MSH:D006316
database_cross_reference: MSH:D006319
database_cross_reference: NCI:C26739
database_cross_reference: NCI:C34662
database_cross_reference: NCI:C34663
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:304400
has_exact_synonym: Perceptive deafness [diagnos]
has_exact_synonym: Perceptive hearing loss
has_exact_synonym: Perceptive hearing loss or deafness
database_cross_reference: SNOMEDCT_US_2015_03_01:155256000
database_cross_reference: SNOMEDCT_US_2015_03_01:194421002
database_cross_reference: SNOMEDCT_US_2015_03_01:194427003
database_cross_reference: SNOMEDCT_US_2015_03_01:232326009
database_cross_reference: SNOMEDCT_US_2015_03_01:267770004
database_cross_reference: SNOMEDCT_US_2015_03_01:60700002
database_cross_reference: SNOMEDCT_US_2015_03_01:68467004
has_exact_synonym: Sensorineural Deafness
has_exact_synonym: Sensory hearing loss
database_cross_reference: UMLS_CUI:C0018776
database_cross_reference: UMLS_CUI:C0018780
database_cross_reference: UMLS_CUI:C0018784
has_exact_synonym: central hearing loss
has_obo_namespace: disease_ontology
has_exact_synonym: high-frequency hearing loss

Axiom
annotated target: High frequency deafness
database_cross_reference: SNOMEDCT_2005_07_31:194421002
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
annotated target: Perceptive hearing loss
database_cross_reference: SNOMEDCT_2005_07_31:194421002
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:389.1
annotated target: Perceptive hearing loss or deafness
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:389.11
annotated target: Sensory hearing loss
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
annotated target: High Frequency Hearing Loss
database_cross_reference: NCI2004_11_17:C34663
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:389.14
annotated target: central hearing loss
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C26739
annotated target: Sensorineural Deafness
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

Axiom
annotated target: Perceptive deafness [diagnos]
database_cross_reference: SNOMEDCT_2005_07_31:267770004
annotated source: sensorineural hearing loss
annotated property: has_exact_synonym

respiratory syncytial virus bronchiolitis
type: Class
definition: A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production.
has_alternative_id: DOID:10006
id: DOID:10007
has_alternative_id: DOID:2941
has_exact_synonym: acute bronchiolitis due to RSV
has_exact_synonym: capillary pneumonia
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: viral bronchiolitis

Axiom
annotated target: A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bronchiolitis
database_cross_reference: url:http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf
annotated source: respiratory syncytial virus bronchiolitis
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:466.11
annotated target: acute bronchiolitis due to RSV
annotated source: respiratory syncytial virus bronchiolitis
annotated property: has_exact_synonym

labor complications
type: Class
id: DOID:1001
has_exact_synonym: Labour complications
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Labour complications
database_cross_reference: SNOMEDCT_2005_07_31:267342003
annotated source: labor complications
annotated property: has_exact_synonym

thyroid lymphoma
type: Class
subclass of: lymphoma
subclass of: DOID 1781
id: DOID:10011
database_cross_reference: NCI:C5265
database_cross_reference: UMLS_CUI:C1336753
has_obo_namespace: disease_ontology

metastatic malignant neoplasm to the thyroid
type: Class
id: DOID:10012
has_obo_namespace: disease_ontology
has_exact_synonym: metastatic tumor to the Thyroid
has_exact_synonym: secondary malignant neoplasm of thyroid gland
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:94634005
annotated target: secondary malignant neoplasm of thyroid gland
annotated source: metastatic malignant neoplasm to the thyroid
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C7509
annotated target: metastatic tumor to the Thyroid
annotated source: metastatic malignant neoplasm to the thyroid
annotated property: has_exact_synonym

polyglandular activity in multiple endocrine adenomatosis
type: Class
id: DOID:10013
has_obo_namespace: disease_ontology
deprecated: true

polyglandular dysfunction
type: Class
id: DOID:10015
has_obo_namespace: disease_ontology
deprecated: true

multiple endocrine neoplasia type 2B
type: Class
subclass of: autosomal dominant disease
definition: An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
id: DOID:10016
database_cross_reference: ICD10CM:E31.23
database_cross_reference: ICD9CM:258.03
has_exact_synonym: MEN type IIB
has_exact_synonym: MEN2B
database_cross_reference: MSH:D018814
has_exact_synonym: Multiple endocrine neoplasia, type 3
database_cross_reference: NCI:C3227
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:162300
database_cross_reference: ORDO:247709
database_cross_reference: SNOMEDCT_US_2015_03_01:61530001
database_cross_reference: UMLS_CUI:C0025269
has_exact_synonym: Wagenmann-Froboese syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: mucosal neuroma syndrome
has_exact_synonym: multiple endocrine neoplasia type 2b

Axiom
annotated target: MEN type IIB
database_cross_reference: NCI2004_11_17:C3227
annotated source: multiple endocrine neoplasia type 2B
annotated property: has_exact_synonym

Axiom
annotated target: Multiple endocrine neoplasia, type 3
database_cross_reference: SNOMEDCT_2005_07_31:61530001
annotated source: multiple endocrine neoplasia type 2B
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2009-6300
annotated target: mucosal neuroma syndrome
annotated source: multiple endocrine neoplasia type 2B
annotated property: has_exact_synonym

Axiom
annotated target: An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
database_cross_reference: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15965261
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract
annotated source: multiple endocrine neoplasia type 2B
annotated property: definition

multiple endocrine neoplasia type 1
type: Class
subclass of: autosomal dominant disease
definition: An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
id: DOID:10017
database_cross_reference: ICD10CM:E31.21
database_cross_reference: ICD9CM:258.01
has_exact_synonym: MEN type I
database_cross_reference: MSH:D018761
database_cross_reference: NCI:C3225
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:131100
database_cross_reference: ORDO:652
database_cross_reference: SNOMEDCT_US_2015_03_01:190566000
database_cross_reference: SNOMEDCT_US_2015_03_01:30664006
database_cross_reference: UMLS_CUI:C0025267
has_exact_synonym: Wermer syndrome
has_exact_synonym: Wermer's syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: multiple endocrine neoplasia type 1

Axiom
annotated target: MEN type I
database_cross_reference: NCI2004_11_17:C3225
annotated source: multiple endocrine neoplasia type 1
annotated property: has_exact_synonym

Axiom
annotated target: An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
database_cross_reference: url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/25509899
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm
annotated source: multiple endocrine neoplasia type 1
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:258.0
annotated target: Wermer's syndrome
annotated source: multiple endocrine neoplasia type 1
annotated property: has_exact_synonym

papilledema associated with increased intracranial pressure
type: Class
id: DOID:10018
has_obo_namespace: disease_ontology
deprecated: true

endometritis
type: Class
subclass of: endometrial disease
id: DOID:1002
database_cross_reference: MSH:D004716
database_cross_reference: NCI:C26764
database_cross_reference: SNOMEDCT_US_2015_03_01:155975003
database_cross_reference: SNOMEDCT_US_2015_03_01:198192000
database_cross_reference: SNOMEDCT_US_2015_03_01:266652001
database_cross_reference: SNOMEDCT_US_2015_03_01:266653006
database_cross_reference: SNOMEDCT_US_2015_03_01:78623009
database_cross_reference: UMLS_CUI:C0014179
has_obo_namespace: disease_ontology

ampulla of Vater cancer
type: Class
subclass of: duodenum cancer
subclass of: DOID 4606
id: DOID:10020
database_cross_reference: ICD10CM:C24.1
database_cross_reference: ICD9CM:156.2
database_cross_reference: NCI:C3536
database_cross_reference: SNOMEDCT_US_2015_03_01:363417006
database_cross_reference: SNOMEDCT_US_2015_03_01:93668007
database_cross_reference: UMLS_CUI:C0153454
has_obo_namespace: disease_ontology
has_exact_synonym: malignant tumour of ampulla of vater

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93668007
annotated target: malignant tumour of ampulla of vater
annotated source: ampulla of Vater cancer
annotated property: has_exact_synonym

duodenum cancer
type: Class
subclass of: small intestine cancer
definition: A small intestine cancer that is located_in the beginning section of the small intestine.
id: DOID:10021
has_alternative_id: DOID:6072
has_exact_synonym: Duodenal cancer
database_cross_reference: ICD10CM:C17.0
database_cross_reference: ICD9CM:152.0
database_cross_reference: MSH:D004379
database_cross_reference: NCI:C4803
database_cross_reference: NCI:C9328
database_cross_reference: SNOMEDCT_US_2015_03_01:154555009
database_cross_reference: SNOMEDCT_US_2015_03_01:254570009
database_cross_reference: SNOMEDCT_US_2015_03_01:269615000
database_cross_reference: SNOMEDCT_US_2015_03_01:363403002
database_cross_reference: UMLS_CUI:C0153426
database_cross_reference: UMLS_CUI:C0541912
has_exact_synonym: cancer of duodenum
has_obo_namespace: disease_ontology
has_exact_synonym: duodenal neoplasm
in_subset: TopNodes DOcancerslim

Axiom
annotated target: A small intestine cancer that is located_in the beginning section of the small intestine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Duodenal_cancer
annotated source: duodenum cancer
annotated property: definition

Axiom
annotated target: Duodenal cancer
database_cross_reference: SNOMEDCT_2005_07_31:363403002
annotated source: duodenum cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4803
annotated target: cancer of duodenum
annotated source: duodenum cancer
annotated property: has_exact_synonym

ampulla of vater neoplasm
type: Class
subclass of: DOID 1737
id: DOID:10022
database_cross_reference: NCI:C4443
database_cross_reference: SNOMEDCT_US_2015_03_01:126858004
database_cross_reference: UMLS_CUI:C0345916
has_obo_namespace: disease_ontology
has_exact_synonym: tumor of the ampulla of vater

Axiom
database_cross_reference: NCI2004_11_17:C4443
annotated target: tumor of the ampulla of vater
annotated source: ampulla of vater neoplasm
annotated property: has_exact_synonym

migraine with aura
type: Class
subclass of: DOID 6364
definition: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
id: DOID:10024
has_alternative_id: DOID:10025
database_cross_reference: ICD10CM:G43.1
database_cross_reference: ICD10CM:G43.109
database_cross_reference: ICD9CM:346.0
database_cross_reference: MSH:D020325
database_cross_reference: OMIM:609179
database_cross_reference: OMIM:609670
database_cross_reference: SNOMEDCT_US_2015_03_01:155047002
database_cross_reference: SNOMEDCT_US_2015_03_01:4473006
database_cross_reference: UMLS_CUI:C0154723
comment: Xref MGI.
has_exact_synonym: classic migraine
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
database_cross_reference: url:http://en.wikipedia.org/wiki/Migraine
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404
annotated source: migraine with aura
annotated property: definition

tabes dorsalis
type: Class
subclass of: DOID 9988
definition: A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction.
id: DOID:10027
database_cross_reference: ICD10CM:A52.11
database_cross_reference: ICD9CM:094.0
database_cross_reference: MSH:D013606
database_cross_reference: NCI:C35057
has_exact_synonym: Posterior spinal sclerosis
database_cross_reference: SNOMEDCT_US_2015_03_01:154384001
database_cross_reference: SNOMEDCT_US_2015_03_01:186885003
database_cross_reference: SNOMEDCT_US_2015_03_01:266134000
database_cross_reference: SNOMEDCT_US_2015_03_01:266210001
database_cross_reference: SNOMEDCT_US_2015_03_01:2844004
database_cross_reference: SNOMEDCT_US_2015_03_01:315826004
database_cross_reference: SNOMEDCT_US_2015_03_01:316841006
database_cross_reference: SNOMEDCT_US_2015_03_01:51928006
has_exact_synonym: Tabes dorsalis - neurosyphilis
database_cross_reference: UMLS_CUI:C0039223
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186885003
annotated target: Tabes dorsalis - neurosyphilis
annotated source: tabes dorsalis
annotated property: has_exact_synonym

Axiom
annotated target: A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction.
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
database_cross_reference: url:http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm
annotated source: tabes dorsalis
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:094.0
annotated target: Posterior spinal sclerosis
annotated source: tabes dorsalis
annotated property: has_exact_synonym

pelvic inflammatory disease
type: Class
subclass of: DOID 229
id: DOID:1003
database_cross_reference: ICD10CM:N70-N77
database_cross_reference: ICD10CM:N73.9
database_cross_reference: ICD9CM:614-616.99
database_cross_reference: ICD9CM:614.9
has_exact_synonym: Inflammatory disease of female pelvic organs and/or tissues
database_cross_reference: MSH:D000292
database_cross_reference: NCI:C3889
has_exact_synonym: PID
database_cross_reference: SNOMEDCT_US_2015_03_01:155967009
database_cross_reference: SNOMEDCT_US_2015_03_01:155968004
database_cross_reference: SNOMEDCT_US_2015_03_01:155974004
database_cross_reference: SNOMEDCT_US_2015_03_01:155986001
database_cross_reference: SNOMEDCT_US_2015_03_01:198130006
database_cross_reference: SNOMEDCT_US_2015_03_01:198131005
database_cross_reference: SNOMEDCT_US_2015_03_01:198178006
database_cross_reference: SNOMEDCT_US_2015_03_01:198244005
database_cross_reference: SNOMEDCT_US_2015_03_01:198570007
database_cross_reference: SNOMEDCT_US_2015_03_01:266584000
database_cross_reference: SNOMEDCT_US_2015_03_01:266648001
database_cross_reference: SNOMEDCT_US_2015_03_01:266651008
database_cross_reference: SNOMEDCT_US_2015_03_01:37518008
database_cross_reference: UMLS_CUI:C0242172
has_obo_namespace: disease_ontology
has_exact_synonym: female pelvic inflammatory disease

Axiom
database_cross_reference: MTHICD9_2006:614.9
annotated target: PID
annotated source: pelvic inflammatory disease
annotated property: has_exact_synonym

Axiom
annotated target: Inflammatory disease of female pelvic organs and/or tissues
database_cross_reference: SNOMEDCT_2005_07_31:198130006
annotated source: pelvic inflammatory disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155967009
annotated target: female pelvic inflammatory disease
annotated source: pelvic inflammatory disease
annotated property: has_exact_synonym

interstitial emphysema
type: Class
subclass of: DOID 9675
id: DOID:10030
database_cross_reference: ICD10CM:J98.2
database_cross_reference: ICD9CM:518.1
database_cross_reference: NCI:C34571
database_cross_reference: SNOMEDCT_US_2015_03_01:11211003
database_cross_reference: SNOMEDCT_US_2015_03_01:390898003
database_cross_reference: SNOMEDCT_US_2015_03_01:77690003
database_cross_reference: UMLS_CUI:C1370824
has_obo_namespace: disease_ontology

compensatory emphysema
type: Class
subclass of: DOID 9675
id: DOID:10031
database_cross_reference: ICD10CM:J98.3
database_cross_reference: ICD9CM:518.2
database_cross_reference: SNOMEDCT_US_2015_03_01:33325001
database_cross_reference: UMLS_CUI:C0155918
has_obo_namespace: disease_ontology

hyperlucent lung
type: Class
subclass of: DOID 9675
id: DOID:10032
database_cross_reference: MSH:D019568
database_cross_reference: UMLS_CUI:C0524799
has_obo_namespace: disease_ontology

cycloplegia
type: Class
subclass of: eye accommodation disease
has_exact_synonym: Ciliary muscle paresis
has_exact_synonym: Cycloplegic paralysis of accommodation
id: DOID:10033
database_cross_reference: ICD10CM:H52.52
database_cross_reference: ICD9CM:367.51
has_exact_synonym: Paresis of accommodation
database_cross_reference: SNOMEDCT_US_2015_03_01:232141000
database_cross_reference: SNOMEDCT_US_2015_03_01:255335004
database_cross_reference: SNOMEDCT_US_2015_03_01:68158006
database_cross_reference: UMLS_CUI:C0235238
has_obo_namespace: disease_ontology

Axiom
annotated target: Cycloplegic paralysis of accommodation
database_cross_reference: SNOMEDCT_2005_07_31:232141000
annotated source: cycloplegia
annotated property: has_exact_synonym

Axiom
annotated target: Ciliary muscle paresis
database_cross_reference: SNOMEDCT_2005_07_31:68158006
annotated source: cycloplegia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:367.51
annotated target: Paresis of accommodation
annotated source: cycloplegia
annotated property: has_exact_synonym

eye accommodation disease
type: Class
subclass of: DOID 5614
id: DOID:10034
database_cross_reference: ICD10CM:H52.5
database_cross_reference: ICD9CM:367.5
database_cross_reference: SNOMEDCT_US_2015_03_01:155137002
database_cross_reference: SNOMEDCT_US_2015_03_01:193631008
database_cross_reference: SNOMEDCT_US_2015_03_01:54552008
database_cross_reference: UMLS_CUI:C0152198
has_obo_namespace: disease_ontology

asymptomatic neurosyphilis
type: Class
subclass of: DOID 9988
definition: A tertiary neurosyphilis that results_in mild meningitis.
id: DOID:10035
database_cross_reference: ICD10CM:A52.2
database_cross_reference: ICD9CM:094.3
database_cross_reference: MSH:D009494
database_cross_reference: SNOMEDCT_US_2015_03_01:37754005
database_cross_reference: UMLS_CUI:C0153167
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
annotated target: A tertiary neurosyphilis that results_in mild meningitis.
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
annotated source: asymptomatic neurosyphilis
annotated property: definition

old burn scar-related melanoma of skin
type: Class
id: DOID:10038
has_obo_namespace: disease_ontology
deprecated: true

late congenital syphilis
type: Class
subclass of: DOID 9856
definition: A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
id: DOID:10039
has_alternative_id: DOID:10796
database_cross_reference: ICD10CM:A50.4
database_cross_reference: ICD10CM:A50.40
database_cross_reference: ICD10CM:A50.5
database_cross_reference: ICD10CM:A50.59
database_cross_reference: ICD9CM:090.4
database_cross_reference: ICD9CM:090.40
database_cross_reference: ICD9CM:090.5
database_cross_reference: MSH:D009494
database_cross_reference: SNOMEDCT_US_2015_03_01:186836008
database_cross_reference: SNOMEDCT_US_2015_03_01:186837004
database_cross_reference: SNOMEDCT_US_2015_03_01:186839001
database_cross_reference: SNOMEDCT_US_2015_03_01:187350002
database_cross_reference: SNOMEDCT_US_2015_03_01:4243004
database_cross_reference: SNOMEDCT_US_2015_03_01:82323002
database_cross_reference: UMLS_CUI:C0153132
database_cross_reference: UMLS_CUI:C0153136
has_obo_namespace: disease_ontology
has_exact_synonym: juvenile neurosyphilis
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Late_congenital_syphilis
database_cross_reference: url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html
annotated source: late congenital syphilis
annotated property: definition

malignant eyelid melanoma
type: Class
subclass of: DOID 8923
id: DOID:10040
database_cross_reference: NCI:C4358
database_cross_reference: SNOMEDCT_US_2015_03_01:231834005
database_cross_reference: UMLS_CUI:C0339116
has_obo_namespace: disease_ontology

dysplastic nevus syndrome
type: Class
subclass of: autosomal dominant disease
id: DOID:10041
has_exact_synonym: FAMM syndrome
database_cross_reference: MSH:D004416
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:155600
database_cross_reference: OMIM:155601
database_cross_reference: UMLS_CUI:C0205747
has_obo_namespace: disease_ontology
has_exact_synonym: familial atypical multiple mole-melanoma

Axiom
annotated target: FAMM syndrome
database_cross_reference: NCI2004_11_17:C27264
annotated source: dysplastic nevus syndrome
annotated property: has_exact_synonym

regressing skin melanoma
type: Class
id: DOID:10042
has_obo_namespace: disease_ontology
has_exact_synonym: regressing malignant melanoma of the skin
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C7089
annotated target: regressing malignant melanoma of the skin
annotated source: regressing skin melanoma
annotated property: has_exact_synonym

balloon cell malignant melanoma
type: Class
subclass of: DOID 8923
id: DOID:10044
database_cross_reference: NCI:C4227
database_cross_reference: SNOMEDCT_US_2015_03_01:39274007
database_cross_reference: SNOMEDCT_US_2015_03_01:403922007
database_cross_reference: UMLS_CUI:C0334426
has_obo_namespace: disease_ontology

malignant giant pigmented nevus melanoma
type: Class
id: DOID:10045
has_obo_namespace: disease_ontology
has_exact_synonym: malignant melanoma in congenital melanocytic naevus
has_exact_synonym: skin melanoma in Giant Pigmented nevus
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C4235
annotated target: skin melanoma in Giant Pigmented nevus
annotated source: malignant giant pigmented nevus melanoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:75931002
annotated target: malignant melanoma in congenital melanocytic naevus
annotated source: malignant giant pigmented nevus melanoma
annotated property: has_exact_synonym

nodular malignant melanoma
type: Class
subclass of: DOID 8923
definition: A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
id: DOID:10047
database_cross_reference: NCI:C4225
database_cross_reference: SNOMEDCT_US_2015_03_01:2142002
database_cross_reference: SNOMEDCT_US_2015_03_01:254731001
database_cross_reference: UMLS_CUI:C0334424
has_obo_namespace: disease_ontology
has_exact_synonym: nodular melanoma (morphologic abnormality)
in_subset: DO cancer slim

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:2142002
annotated target: nodular melanoma (morphologic abnormality)
annotated source: nodular malignant melanoma
annotated property: has_exact_synonym

Axiom
annotated target: A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
database_cross_reference: url:http://en.wikipedia.org/wiki/Nodular_melanoma
database_cross_reference: url:http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/
annotated source: nodular malignant melanoma
annotated property: definition

malignant junctional nevus melanoma
type: Class
id: DOID:10048
has_obo_namespace: disease_ontology
has_exact_synonym: malignant melanoma in junctional nevus (morphologic abnormality)
has_exact_synonym: melanoma in Junctional nevus
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:915007
annotated target: malignant melanoma in junctional nevus (morphologic abnormality)
annotated source: malignant junctional nevus melanoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4232
annotated target: melanoma in Junctional nevus
annotated source: malignant junctional nevus melanoma
annotated property: has_exact_synonym

desmoplastic melanoma
type: Class
definition: A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.
id: DOID:10049
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.
database_cross_reference: url:http://www.cancer.gov/dictionary/?CdrID=321367
annotated source: desmoplastic melanoma
annotated property: definition

endometrial disease
type: Class
subclass of: DOID 345
id: DOID:1005
database_cross_reference: NCI:C3504
database_cross_reference: SNOMEDCT_US_2015_03_01:418632009
database_cross_reference: UMLS_CUI:C0151622
has_obo_namespace: disease_ontology

malignant skin blue nevus
type: Class
has_exact_synonym: Blue nevus-Like melanoma
id: DOID:10053
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Blue nevus-Like melanoma
database_cross_reference: NCI2004_11_17:C4240
annotated source: malignant skin blue nevus
annotated property: has_exact_synonym

skin amelanotic melanoma
type: Class
subclass of: DOID 4359
subclass of: DOID 8923
id: DOID:10054
database_cross_reference: NCI:C4633
database_cross_reference: SNOMEDCT_US_2015_03_01:276751004
database_cross_reference: UMLS_CUI:C0349515
has_obo_namespace: disease_ontology
has_exact_synonym: skin amelanotic malignant melanoma

Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium
type: Class
id: DOID:10059
has_obo_namespace: disease_ontology
deprecated: true

syphilitic acoustic neuritis
type: Class
definition: A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved.
id: DOID:10066
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
annotated target: A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved.
database_cross_reference: url:http://archotol.ama-assn.org/cgi/content/summary/40/4/261
annotated source: syphilitic acoustic neuritis
annotated property: definition

subglottis neoplasm
type: Class
subclass of: DOID 2598
id: DOID:10069
database_cross_reference: NCI:C4426
database_cross_reference: SNOMEDCT_US_2015_03_01:126696001
has_exact_synonym: Subglottic tumor
database_cross_reference: UMLS_CUI:C0345746
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C4426
annotated target: Subglottic tumor
annotated source: subglottis neoplasm
annotated property: has_exact_synonym

larynx leiomyoma
type: Class
subclass of: DOID 127
subclass of: DOID 2598
id: DOID:10070
database_cross_reference: NCI:C6027
database_cross_reference: UMLS_CUI:C1334370
has_obo_namespace: disease_ontology

larynx squamous papilloma
type: Class
subclass of: DOID 2598
id: DOID:10071
database_cross_reference: NCI:C7742
database_cross_reference: SNOMEDCT_US_2015_03_01:269637007
database_cross_reference: UMLS_CUI:C0240164
has_obo_namespace: disease_ontology

syphilitic meningitis
type: Class
subclass of: DOID 9470
id: DOID:10073
database_cross_reference: ICD9CM:094.2
database_cross_reference: MSH:C536775
database_cross_reference: SNOMEDCT_US_2015_03_01:14968007
database_cross_reference: SNOMEDCT_US_2015_03_01:186887006
database_cross_reference: SNOMEDCT_US_2015_03_01:301086002
database_cross_reference: UMLS_CUI:C0153166
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

hymenolepiasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
id: DOID:10074
has_exact_synonym: Hymenolepis infectious disease
database_cross_reference: ICD10CM:B71.0
database_cross_reference: ICD9CM:123.6
database_cross_reference: MSH:D006925
database_cross_reference: NCI:C84768
database_cross_reference: SNOMEDCT_US_2015_03_01:187153007
database_cross_reference: SNOMEDCT_US_2015_03_01:44917000
database_cross_reference: UMLS_CUI:C0020413
has_obo_namespace: disease_ontology
has_exact_synonym: dwarf tapeworm infection

Axiom
annotated target: Hymenolepis infectious disease
database_cross_reference: MTHICD9_2006:123.6
annotated source: hymenolepiasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hymenolepiasis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm
annotated source: hymenolepiasis
annotated property: definition

diphyllobothriasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
id: DOID:10075
has_exact_synonym: Diphyllobothrium infection
database_cross_reference: ICD10CM:B70.0
database_cross_reference: ICD9CM:123.4
database_cross_reference: MSH:D004169
database_cross_reference: SNOMEDCT_US_2015_03_01:187151009
database_cross_reference: SNOMEDCT_US_2015_03_01:359799003
database_cross_reference: SNOMEDCT_US_2015_03_01:49047003
database_cross_reference: UMLS_CUI:C0012561
has_obo_namespace: disease_ontology
has_exact_synonym: fish tapeworm

Axiom
annotated target: Diphyllobothrium infection
database_cross_reference: MTHICD9_2006:123.4
annotated source: diphyllobothriasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
database_cross_reference: url:http://en.wikipedia.org/wiki/Diphyllobothrium
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm
annotated source: diphyllobothriasis
annotated property: definition

cysticercosis
type: Class
subclass of: taeniasis
definition: A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
has_alternative_id: DOID:10078
id: DOID:10079
has_alternative_id: DOID:14424
database_cross_reference: ICD10CM:B69
database_cross_reference: ICD10CM:B69.9
database_cross_reference: ICD9CM:123.1
database_cross_reference: MSH:D003551
database_cross_reference: NCI:C34520
has_exact_synonym: Pork tapeworm infection
database_cross_reference: SNOMEDCT_US_2015_03_01:105684008
database_cross_reference: SNOMEDCT_US_2015_03_01:187527007
database_cross_reference: SNOMEDCT_US_2015_03_01:59051007
has_exact_synonym: Tapeworm infection: [intestinal taenia solium] or [pork]
database_cross_reference: UMLS_CUI:C0010678
has_obo_namespace: disease_ontology
has_exact_synonym: intestinal taenia solium infection
has_exact_synonym: neurocysticercosis
has_exact_synonym: tenia solium infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187147007
annotated target: Tapeworm infection: [intestinal taenia solium] or [pork]
annotated source: cysticercosis
annotated property: has_exact_synonym

Axiom
annotated target: A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cysticercosis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Cysticercosis.htm
annotated source: cysticercosis
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266160004
annotated target: intestinal taenia solium infection
annotated source: cysticercosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:123.0
annotated target: Pork tapeworm infection
annotated source: cysticercosis
annotated property: has_exact_synonym

sparganosis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
id: DOID:10080
database_cross_reference: ICD10CM:B70.1
database_cross_reference: ICD9CM:123.5
has_exact_synonym: Infection by Sparganum
database_cross_reference: MSH:D013031
database_cross_reference: NCI:C35030
database_cross_reference: SNOMEDCT_US_2015_03_01:187152002
database_cross_reference: SNOMEDCT_US_2015_03_01:31659000
has_exact_synonym: Sparganosis [larval diphyllobothriasis]
database_cross_reference: UMLS_CUI:C0037753
has_obo_namespace: disease_ontology

Axiom
annotated target: Infection by Sparganum
database_cross_reference: MTHICD9_2006:123.5
annotated source: sparganosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:123.5
annotated target: Sparganosis [larval diphyllobothriasis]
annotated source: sparganosis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sparganosis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm
annotated source: sparganosis
annotated property: definition

syphilitic encephalitis
type: Class
subclass of: DOID 9588
id: DOID:10081
database_cross_reference: ICD9CM:094.81
database_cross_reference: SNOMEDCT_US_2015_03_01:192699001
database_cross_reference: SNOMEDCT_US_2015_03_01:192700000
database_cross_reference: SNOMEDCT_US_2015_03_01:26135000
has_exact_synonym: Syphilis encephalitis
database_cross_reference: UMLS_CUI:C0153168
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:192699001
annotated target: Syphilis encephalitis
annotated source: syphilitic encephalitis
annotated property: has_exact_synonym

gastric leiomyoma
type: Class
subclass of: gastrointestinal system benign neoplasm
id: DOID:10087
database_cross_reference: NCI:C3876
database_cross_reference: SNOMEDCT_US_2015_03_01:276812001
database_cross_reference: UMLS_CUI:C0238440
has_obo_namespace: disease_ontology
has_exact_synonym: leiomyoma of the stomach

Axiom
database_cross_reference: NCI2004_11_17:C3876
annotated target: leiomyoma of the stomach
annotated source: gastric leiomyoma
annotated property: has_exact_synonym

intracranial abscess
type: Class
subclass of: DOID 331
id: DOID:10095
database_cross_reference: ICD9CM:324.0
database_cross_reference: NCI:C34734
database_cross_reference: SNOMEDCT_US_2015_03_01:192738001
database_cross_reference: SNOMEDCT_US_2015_03_01:192746000
database_cross_reference: SNOMEDCT_US_2015_03_01:27614006
database_cross_reference: UMLS_CUI:C0021874
has_obo_namespace: disease_ontology

Congenital or acquired abnormality of vagina, with delivery
type: Class
id: DOID:10111
has_obo_namespace: disease_ontology
deprecated: true

sleeping sickness
type: Class
subclass of: trypanosomiasis
definition: A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
has_exact_synonym: African sleeping sickness
has_exact_synonym: African trypanosomiasis
id: DOID:10112
database_cross_reference: ICD10CM:B56
database_cross_reference: ICD10CM:B56.9
database_cross_reference: ICD9CM:086.5
database_cross_reference: KEGG:05143
database_cross_reference: MSH:D014353
database_cross_reference: NCI:C84541
database_cross_reference: SNOMEDCT_US_2015_03_01:186818008
database_cross_reference: SNOMEDCT_US_2015_03_01:187512007
database_cross_reference: SNOMEDCT_US_2015_03_01:27031003
database_cross_reference: SNOMEDCT_US_2015_03_01:78940002
database_cross_reference: UMLS_CUI:C0041228
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
database_cross_reference: url:http://en.wikipedia.org/wiki/African_trypanosomiasis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs259/en/
annotated source: sleeping sickness
annotated property: definition

Axiom
annotated target: African sleeping sickness
database_cross_reference: CSP2005:2214-6161
annotated source: sleeping sickness
annotated property: has_exact_synonym

Axiom
annotated target: African trypanosomiasis
database_cross_reference: MTH:NOCODE
annotated source: sleeping sickness
annotated property: has_exact_synonym

trypanosomiasis
type: Class
subclass of: DOID 2789
definition: A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
id: DOID:10113
database_cross_reference: ICD10CM:B57.2
database_cross_reference: ICD9CM:086
database_cross_reference: ICD9CM:086.9
database_cross_reference: MSH:D014352
database_cross_reference: SNOMEDCT_US_2015_03_01:154375001
database_cross_reference: SNOMEDCT_US_2015_03_01:186819000
database_cross_reference: SNOMEDCT_US_2015_03_01:266205000
database_cross_reference: SNOMEDCT_US_2015_03_01:78940002
database_cross_reference: UMLS_CUI:C0041227
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
database_cross_reference: url:http://en.wikipedia.org/wiki/Trypanosomiasis
annotated source: trypanosomiasis
annotated property: definition

Trypanosoma brucei rhodesiense infectious disease
type: Class
definition: A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.
id: DOID:10114
has_exact_synonym: East African trypanosomiasis
has_exact_synonym: Rhodesian sleeping sickness
has_exact_synonym: Rhodesian trypanosomiasis
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: trypanosoma rhodesiense infectious disease
in_subset: zoonotic infectious disease

Axiom
database_cross_reference: ICD9CM_2006:086.4
annotated target: Rhodesian trypanosomiasis
annotated source: Trypanosoma brucei rhodesiense infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.
database_cross_reference: url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm
annotated source: Trypanosoma brucei rhodesiense infectious disease
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:086.4
annotated target: Rhodesian sleeping sickness
annotated source: Trypanosoma brucei rhodesiense infectious disease
annotated property: has_exact_synonym

Trypanosoma brucei gambiense infectious disease
type: Class
definition: A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.
id: DOID:10116
has_exact_synonym: Gambian Trypanosomiasis
has_exact_synonym: Gambian sleeping sickness
has_exact_synonym: West African trypanosomiasis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: zoonotic infectious disease

Axiom
annotated target: A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.
database_cross_reference: url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm
annotated source: Trypanosoma brucei gambiense infectious disease
annotated property: definition

Axiom
annotated target: Gambian Trypanosomiasis
database_cross_reference: NCI2004_11_17:C35084
annotated source: Trypanosoma brucei gambiense infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Gambian sleeping sickness
database_cross_reference: MTHICD9_2006:086.3
annotated source: Trypanosoma brucei gambiense infectious disease
annotated property: has_exact_synonym

eyelid degenerative disease
type: Class
subclass of: DOID 1289
subclass of: DOID 530
id: DOID:10120
database_cross_reference: ICD9CM:374.50
database_cross_reference: SNOMEDCT_US_2015_03_01:1112003
database_cross_reference: SNOMEDCT_US_2015_03_01:193957009
database_cross_reference: UMLS_CUI:C0155209
has_obo_namespace: disease_ontology

degenerative disorder of eyelid and periocular area
type: Class
id: DOID:10121
has_obo_namespace: disease_ontology
deprecated: true

hyperpigmentation of eyelid
type: Class
subclass of: pigmentation disease
id: DOID:10122
database_cross_reference: ICD10CM:H02.71
database_cross_reference: ICD9CM:374.52
database_cross_reference: MSH:C562400
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:145100
database_cross_reference: SNOMEDCT_US_2015_03_01:41115008
database_cross_reference: UMLS_CUI:C0155211
has_obo_namespace: disease_ontology
has_exact_synonym: dyspigmentation of eyelid

pigmentation disease
type: Class
subclass of: DOID 37
id: DOID:10123
database_cross_reference: ICD9CM:709.09
database_cross_reference: UMLS_CUI:C0375489
has_obo_namespace: disease_ontology

corneal disease
type: Class
subclass of: DOID 5614
id: DOID:10124
has_alternative_id: DOID:2284
database_cross_reference: ICD10CM:H18.9
database_cross_reference: ICD9CM:371.9
database_cross_reference: MSH:D003316
database_cross_reference: NCI:C26731
database_cross_reference: SNOMEDCT_US_2015_03_01:15250008
database_cross_reference: SNOMEDCT_US_2015_03_01:155160005
database_cross_reference: SNOMEDCT_US_2015_03_01:193794007
database_cross_reference: SNOMEDCT_US_2015_03_01:193856004
database_cross_reference: SNOMEDCT_US_2015_03_01:267733008
database_cross_reference: UMLS_CUI:C0010034
has_obo_namespace: disease_ontology

acute hydrops keratoconus
type: Class
subclass of: keratoconus
id: DOID:10125
database_cross_reference: ICD9CM:371.62
has_exact_synonym: Keratoconus, acute hydrops
database_cross_reference: SNOMEDCT_US_2015_03_01:111523009
database_cross_reference: UMLS_CUI:C0339286
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:371.62
annotated target: Keratoconus, acute hydrops
annotated source: acute hydrops keratoconus
annotated property: has_exact_synonym

keratoconus
type: Class
subclass of: corneal disease
definition: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
id: DOID:10126
database_cross_reference: ICD10CM:H18.6
database_cross_reference: ICD10CM:H18.60
database_cross_reference: ICD9CM:371.6
database_cross_reference: ICD9CM:371.60
database_cross_reference: MSH:D007640
database_cross_reference: NCI:C26806
database_cross_reference: OMIM:148300
database_cross_reference: OMIM:608586
database_cross_reference: OMIM:608932
database_cross_reference: OMIM:609271
database_cross_reference: OMIM:614622
database_cross_reference: OMIM:614623
database_cross_reference: OMIM:614628
database_cross_reference: OMIM:614629
database_cross_reference: ORDO:156071
database_cross_reference: SNOMEDCT_US_2015_03_01:155160005
database_cross_reference: SNOMEDCT_US_2015_03_01:193843006
database_cross_reference: SNOMEDCT_US_2015_03_01:193846003
database_cross_reference: SNOMEDCT_US_2015_03_01:267733008
database_cross_reference: SNOMEDCT_US_2015_03_01:65636009
database_cross_reference: UMLS_CUI:C0022578
comment: Xref MGI.
has_exact_synonym: conical cornea
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
database_cross_reference: url:http://en.wikipedia.org/wiki/Keratoconus
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=keratoconus
annotated source: keratoconus
annotated property: definition

cerebral artery occlusion
type: Class
subclass of: DOID 6713
id: DOID:10127
database_cross_reference: ICD9CM:434
database_cross_reference: ICD9CM:434.9
database_cross_reference: SNOMEDCT_US_2015_03_01:155400001
database_cross_reference: SNOMEDCT_US_2015_03_01:155403004
database_cross_reference: SNOMEDCT_US_2015_03_01:195188006
database_cross_reference: SNOMEDCT_US_2015_03_01:20059004
database_cross_reference: SNOMEDCT_US_2015_03_01:266255008
database_cross_reference: SNOMEDCT_US_2015_03_01:286956007
database_cross_reference: UMLS_CUI:C0028790
has_obo_namespace: disease_ontology

venous insufficiency
type: Class
subclass of: DOID 866
definition: A vein disease that is characterized by impaired flow of blood through the veins.
id: DOID:10128
database_cross_reference: ICD9CM:459.81
database_cross_reference: MSH:D014689
database_cross_reference: SNOMEDCT_US_2015_03_01:20696009
database_cross_reference: UMLS_CUI:C0042485
has_obo_namespace: disease_ontology
has_exact_synonym: peripheral venous insufficiency

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:20696009
annotated target: peripheral venous insufficiency
annotated source: venous insufficiency
annotated property: has_exact_synonym

Axiom
annotated target: A vein disease that is characterized by impaired flow of blood through the veins.
database_cross_reference: url:http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm
annotated source: venous insufficiency
annotated property: definition

psychologic vaginismus
type: Class
subclass of: psychosexual disorder
id: DOID:10131
has_exact_synonym: Functional vaginismus
database_cross_reference: ICD10CM:F52.5
database_cross_reference: ICD9CM:306.51
database_cross_reference: MSH:D052065
database_cross_reference: NCI:C35113
has_exact_synonym: Non-organic vaginismus
has_exact_synonym: Psychogenic Vaginismus
database_cross_reference: SNOMEDCT_US_2015_03_01:154924008
database_cross_reference: SNOMEDCT_US_2015_03_01:192469003
database_cross_reference: SNOMEDCT_US_2015_03_01:268773000
database_cross_reference: SNOMEDCT_US_2015_03_01:71787009
database_cross_reference: UMLS_CUI:C0042266
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C35113
annotated target: Psychogenic Vaginismus
annotated source: psychologic vaginismus
annotated property: has_exact_synonym

Axiom
annotated target: Functional vaginismus
database_cross_reference: MTHICD9_2006:306.51
annotated source: psychologic vaginismus
annotated property: has_exact_synonym

Axiom
annotated target: Non-organic vaginismus
database_cross_reference: SNOMEDCT_2005_07_31:192469003
annotated source: psychologic vaginismus
annotated property: has_exact_synonym

psychosexual disorder
type: Class
subclass of: sexual disorder
id: DOID:10132
database_cross_reference: ICD9CM:302.79
database_cross_reference: UMLS_CUI:C0033951
has_obo_namespace: disease_ontology

xerophthalmia
type: Class
subclass of: dry eye syndrome
has_exact_synonym: Conjunctival xerosis
id: DOID:10138
database_cross_reference: ICD10CM:E50.7
database_cross_reference: ICD10CM:H04.12
database_cross_reference: ICD9CM:375.15
database_cross_reference: MSH:D014985
database_cross_reference: NCI:C34503
database_cross_reference: SNOMEDCT_US_2015_03_01:155167008
database_cross_reference: SNOMEDCT_US_2015_03_01:193887002
database_cross_reference: SNOMEDCT_US_2015_03_01:193980001
database_cross_reference: SNOMEDCT_US_2015_03_01:363677007
database_cross_reference: SNOMEDCT_US_2015_03_01:46152009
database_cross_reference: SNOMEDCT_US_2015_03_01:69316005
database_cross_reference: UMLS_CUI:C0043349
has_obo_namespace: disease_ontology
has_exact_synonym: xerophthalmus

Axiom
annotated target: Conjunctival xerosis
database_cross_reference: ICD9CM_2006:372.53
annotated source: xerophthalmia
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1114-9931
annotated target: xerophthalmus
annotated source: xerophthalmia
annotated property: has_exact_synonym

conjunctival degeneration
type: Class
subclass of: DOID 4251
id: DOID:10139
database_cross_reference: ICD10CM:H11.10
database_cross_reference: ICD9CM:372.50
database_cross_reference: SNOMEDCT_US_2015_03_01:193886006
database_cross_reference: SNOMEDCT_US_2015_03_01:40787005
database_cross_reference: UMLS_CUI:C0155160
has_obo_namespace: disease_ontology

dry eye syndrome
type: Class
subclass of: DOID 1400
id: DOID:10140
database_cross_reference: ICD10CM:H04.12
database_cross_reference: MSH:D015352
database_cross_reference: NCI:C34553
database_cross_reference: SNOMEDCT_US_2015_03_01:1249004
database_cross_reference: SNOMEDCT_US_2015_03_01:155182003
database_cross_reference: SNOMEDCT_US_2015_03_01:193980001
database_cross_reference: SNOMEDCT_US_2015_03_01:46152009
has_exact_synonym: Tear film insufficiency
database_cross_reference: UMLS_CUI:C0013238
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193980001
annotated target: Tear film insufficiency
annotated source: dry eye syndrome
annotated property: has_exact_synonym

asthenopia
type: Class
subclass of: DOID 5614
has_exact_synonym: Accommodative asthenopia (finding)
has_exact_synonym: Accommodative strain
id: DOID:10141
database_cross_reference: ICD10CM:H53.14
database_cross_reference: MSH:D001248
database_cross_reference: SNOMEDCT_US_2015_03_01:193645002
database_cross_reference: SNOMEDCT_US_2015_03_01:46640001
database_cross_reference: SNOMEDCT_US_2015_03_01:70323002
database_cross_reference: UMLS_CUI:C0004095
has_obo_namespace: disease_ontology

Axiom
annotated target: Accommodative strain
database_cross_reference: SNOMEDCT_2005_07_31:193645002
annotated source: asthenopia
annotated property: has_exact_synonym

Axiom
annotated target: Accommodative asthenopia (finding)
database_cross_reference: SNOMEDCT_2005_07_31:46640001
annotated source: asthenopia
annotated property: has_exact_synonym

Chlamydia trachomatis peritonitis
type: Class
id: DOID:10142
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: venereal disease of peritoneum due to Chlamydia trachomatis
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

secondary malignant neoplasm to the thymus
type: Class
id: DOID:10144
has_obo_namespace: disease_ontology
has_exact_synonym: metastatic tumor to the Thymus
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C4903
annotated target: metastatic tumor to the Thymus
annotated source: secondary malignant neoplasm to the thymus
annotated property: has_exact_synonym

metastases to mediastinum
type: Class
id: DOID:10145
has_obo_namespace: disease_ontology
has_exact_synonym: metastatic tumor to the mediastinum
has_exact_synonym: secondary malignant neoplasm of mediastinum
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C3578
annotated target: metastatic tumor to the mediastinum
annotated source: metastases to mediastinum
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:197.1
annotated target: secondary malignant neoplasm of mediastinum
annotated source: metastases to mediastinum
annotated property: has_exact_synonym

thymus lymphoma
type: Class
subclass of: lymphoma
subclass of: DOID 3277
id: DOID:10146
database_cross_reference: NCI:C6451
database_cross_reference: UMLS_CUI:C1336745
has_obo_namespace: disease_ontology

long bones of lower limb cancer
type: Class
subclass of: DOID 184
definition: A bone cancer that is manifested in the long bones of the lower limb.
id: DOID:10149
database_cross_reference: ICD10CM:C40.2
database_cross_reference: ICD9CM:170.7
database_cross_reference: SNOMEDCT_US_2015_03_01:187959005
database_cross_reference: SNOMEDCT_US_2015_03_01:187963003
database_cross_reference: UMLS_CUI:C0153517
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of long bones of leg

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187959005
annotated target: malignant neoplasm of long bones of leg
annotated source: long bones of lower limb cancer
annotated property: has_exact_synonym

Axiom
annotated target: A bone cancer that is manifested in the long bones of the lower limb.
database_cross_reference: url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm
annotated source: long bones of lower limb cancer
annotated property: definition

lower limb cancer
type: Class
definition: A malignant neoplasm that is manifested in the lower limb.
id: DOID:10150
has_related_synonym: cancer of lower limb
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of lower limb
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:195.5
annotated target: malignant neoplasm of lower limb
annotated source: lower limb cancer
annotated property: has_exact_synonym

Axiom
annotated target: A malignant neoplasm that is manifested in the lower limb.
database_cross_reference: url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm
annotated source: lower limb cancer
annotated property: definition

malignant neoplasm of short bones of lower limb
type: Class
subclass of: long bones of lower limb cancer
id: DOID:10151
database_cross_reference: ICD10CM:C40.3
database_cross_reference: ICD9CM:170.8
database_cross_reference: SNOMEDCT_US_2015_03_01:187964009
database_cross_reference: SNOMEDCT_US_2015_03_01:187979002
database_cross_reference: SNOMEDCT_US_2015_03_01:269468002
database_cross_reference: SNOMEDCT_US_2015_03_01:94003005
database_cross_reference: UMLS_CUI:C0153518
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of short bone of lower limb
has_exact_synonym: malignant neoplasm of short bones of leg

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187964009
annotated target: malignant neoplasm of short bones of leg
annotated source: malignant neoplasm of short bones of lower limb
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:94003005
annotated target: malignant neoplasm of short bone of lower limb
annotated source: malignant neoplasm of short bones of lower limb
annotated property: has_exact_synonym

Meckel's diverticulum cancer
type: Class
subclass of: ileum cancer
id: DOID:10152
database_cross_reference: ICD9CM:152.3
has_exact_synonym: Meckel diverticulum cancer
database_cross_reference: SNOMEDCT_US_2015_03_01:187752007
database_cross_reference: SNOMEDCT_US_2015_03_01:93890009
database_cross_reference: UMLS_CUI:C0153429
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of Meckel's diverticulum

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93890009
annotated target: malignant neoplasm of Meckel's diverticulum
annotated source: Meckel's diverticulum cancer
annotated property: has_exact_synonym

ileum cancer
type: Class
subclass of: small intestine cancer
definition: A small intestine cancer that is located_in the ileum.
id: DOID:10153
database_cross_reference: ICD10CM:C17.2
database_cross_reference: ICD9CM:152.2
database_cross_reference: SNOMEDCT_US_2015_03_01:363405009
database_cross_reference: SNOMEDCT_US_2015_03_01:93832004
database_cross_reference: UMLS_CUI:C0153428
has_obo_namespace: disease_ontology
has_exact_synonym: ileal neoplasm
has_exact_synonym: malignant neoplasm of ileum
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: ICD9CM_2006:152.2
annotated target: malignant neoplasm of ileum
annotated source: ileum cancer
annotated property: has_exact_synonym

Axiom
annotated target: A small intestine cancer that is located_in the ileum.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ileum
annotated source: ileum cancer
annotated property: definition

small intestine cancer
type: Class
subclass of: intestinal cancer
definition: An intestinal cancer that is located_in the small intestine.
id: DOID:10154
database_cross_reference: ICD10CM:C17
database_cross_reference: ICD10CM:C17.9
database_cross_reference: ICD9CM:152.9
database_cross_reference: NCI:C7523
database_cross_reference: SNOMEDCT_US_2015_03_01:154555009
database_cross_reference: SNOMEDCT_US_2015_03_01:187755009
database_cross_reference: SNOMEDCT_US_2015_03_01:269615000
database_cross_reference: SNOMEDCT_US_2015_03_01:363509000
database_cross_reference: SNOMEDCT_US_2015_03_01:94048009
database_cross_reference: UMLS_CUI:C0153425
has_obo_namespace: disease_ontology

Axiom
annotated target: An intestinal cancer that is located_in the small intestine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Small_intestine
annotated source: small intestine cancer
annotated property: definition

intestinal cancer
type: Class
subclass of: DOID 3119
definition: A gastrointestinal system cancer that is located_in the intestine.
id: DOID:10155
database_cross_reference: ICD10CM:C26.0
database_cross_reference: ICD9CM:159.0
database_cross_reference: MSH:D007414
database_cross_reference: NCI:C4572
database_cross_reference: SNOMEDCT_US_2015_03_01:187819006
database_cross_reference: SNOMEDCT_US_2015_03_01:190089002
database_cross_reference: SNOMEDCT_US_2015_03_01:363508008
database_cross_reference: SNOMEDCT_US_2015_03_01:93838000
database_cross_reference: UMLS_CUI:C0346627
has_obo_namespace: disease_ontology
has_exact_synonym: malignant intestinal tumors
has_exact_synonym: malignant neoplasm of intestine
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: NCI2004_11_17:C4572
annotated target: malignant intestinal tumors
annotated source: intestinal cancer
annotated property: has_exact_synonym

Axiom
annotated target: A gastrointestinal system cancer that is located_in the intestine.
database_cross_reference: url:http://en.wikipedia.org/wiki/Intestine
annotated source: intestinal cancer
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93838000
annotated target: malignant neoplasm of intestine
annotated source: intestinal cancer
annotated property: has_exact_synonym

ileal neoplasm
type: Class
subclass of: DOID 7505
id: DOID:10156
has_exact_synonym: Ileal tumor
database_cross_reference: MSH:D007078
database_cross_reference: NCI:C3130
database_cross_reference: SNOMEDCT_US_2015_03_01:126835002
database_cross_reference: SNOMEDCT_US_2015_03_01:254576003
database_cross_reference: UMLS_CUI:C0020876
has_obo_namespace: disease_ontology
has_exact_synonym: tumor of ileum (disorder)

Axiom
annotated target: Ileal tumor
database_cross_reference: NCI2004_11_17:C3130
annotated source: ileal neoplasm
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:254576003
annotated target: tumor of ileum (disorder)
annotated source: ileal neoplasm
annotated property: has_exact_synonym

osteonecrosis
type: Class
subclass of: ischemic bone disease
definition: An ischemic bone disease that results_in necrosis located_in bone.
has_exact_synonym: Avascular necrosis of bone
id: DOID:10159
has_alternative_id: DOID:10160
has_alternative_id: DOID:10161
has_alternative_id: DOID:10162
has_alternative_id: DOID:10163
has_alternative_id: DOID:10164
has_alternative_id: DOID:4128
has_alternative_id: DOID:8380
has_alternative_id: DOID:86
database_cross_reference: ICD10CM:M87
database_cross_reference: ICD10CM:M87.9
database_cross_reference: ICD9CM:732.3
database_cross_reference: ICD9CM:733.41
database_cross_reference: ICD9CM:733.42
database_cross_reference: ICD9CM:733.43
database_cross_reference: ICD9CM:733.44
database_cross_reference: ICD9CM:733.49
database_cross_reference: MSH:D010020
database_cross_reference: NCI:C34404
database_cross_reference: NCI:C34841
database_cross_reference: NCI:C34880
database_cross_reference: NCI:C35226
database_cross_reference: NCI:C35517
database_cross_reference: SNOMEDCT_US_2015_03_01:156837008
database_cross_reference: SNOMEDCT_US_2015_03_01:17926002
database_cross_reference: SNOMEDCT_US_2015_03_01:203487006
database_cross_reference: SNOMEDCT_US_2015_03_01:240196003
database_cross_reference: SNOMEDCT_US_2015_03_01:264540002
database_cross_reference: SNOMEDCT_US_2015_03_01:29281007
database_cross_reference: SNOMEDCT_US_2015_03_01:34686004
database_cross_reference: SNOMEDCT_US_2015_03_01:397758007
database_cross_reference: SNOMEDCT_US_2015_03_01:43453000
database_cross_reference: SNOMEDCT_US_2015_03_01:62100001
database_cross_reference: SNOMEDCT_US_2015_03_01:83453001
database_cross_reference: SNOMEDCT_US_2015_03_01:86217007
database_cross_reference: UMLS_CUI:C0003977
database_cross_reference: UMLS_CUI:C0027543
database_cross_reference: UMLS_CUI:C0029445
database_cross_reference: UMLS_CUI:C0158442
database_cross_reference: UMLS_CUI:C0158449
database_cross_reference: UMLS_CUI:C0158450
database_cross_reference: UMLS_CUI:C0158451
database_cross_reference: UMLS_CUI:C0158452
database_cross_reference: UMLS_CUI:C0745048
has_exact_synonym: bone necrosis
has_obo_namespace: disease_ontology

Axiom
annotated target: Avascular necrosis of bone
database_cross_reference: NCI2004_11_17:C34841
annotated source: osteonecrosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2715-1650
annotated target: bone necrosis
annotated source: osteonecrosis
annotated property: has_exact_synonym

Axiom
annotated target: An ischemic bone disease that results_in necrosis located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Avascular_necrosis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm
annotated source: osteonecrosis
annotated property: definition

primary tuberculosis
type: Class
id: DOID:1016
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

tuberculous myelitis
type: Class
id: DOID:10173
has_alternative_id: DOID:6356
has_exact_synonym: Tuberculous abscess of spinal cord
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: tuberculoma of spinal cord
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: ICD9CM_2006:013.5
annotated target: Tuberculous abscess of spinal cord
annotated source: tuberculous myelitis
annotated property: has_exact_synonym

lacrimal passage granuloma
type: Class
subclass of: DOID 1400
id: DOID:10174
has_exact_synonym: Granuloma of lacrimal passages
has_exact_synonym: Granuloma of lacrimal passages (disorder)
database_cross_reference: ICD10CM:H04.81
database_cross_reference: ICD9CM:375.81
database_cross_reference: SNOMEDCT_US_2015_03_01:194001006
database_cross_reference: SNOMEDCT_US_2015_03_01:417563003
database_cross_reference: SNOMEDCT_US_2015_03_01:82836006
database_cross_reference: UMLS_CUI:C0155253
has_obo_namespace: disease_ontology
has_exact_synonym: lacrimal passage granuloma (disorder)

Axiom
annotated target: Granuloma of lacrimal passages (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:82836006
annotated source: lacrimal passage granuloma
annotated property: has_exact_synonym

Axiom
annotated target: Granuloma of lacrimal passages
database_cross_reference: ICD9CM_2006:375.81
annotated source: lacrimal passage granuloma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194001006
annotated target: lacrimal passage granuloma (disorder)
annotated source: lacrimal passage granuloma
annotated property: has_exact_synonym

optic papillitis
type: Class
subclass of: DOID 1210
id: DOID:10175
database_cross_reference: ICD10CM:H35.81
database_cross_reference: ICD10CM:H46.0
database_cross_reference: ICD10CM:H47.1
database_cross_reference: ICD10CM:H47.10
database_cross_reference: ICD10CM:H47.11
database_cross_reference: ICD9CM:362.83
database_cross_reference: ICD9CM:377.0
database_cross_reference: ICD9CM:377.00
database_cross_reference: ICD9CM:377.01
database_cross_reference: ICD9CM:377.31
database_cross_reference: MSH:D010211
database_cross_reference: NCI:C3307
database_cross_reference: SNOMEDCT_US_2015_03_01:111526001
database_cross_reference: SNOMEDCT_US_2015_03_01:155187009
database_cross_reference: SNOMEDCT_US_2015_03_01:193426002
database_cross_reference: SNOMEDCT_US_2015_03_01:194038006
database_cross_reference: SNOMEDCT_US_2015_03_01:194041002
database_cross_reference: SNOMEDCT_US_2015_03_01:248487006
database_cross_reference: SNOMEDCT_US_2015_03_01:3170006
database_cross_reference: SNOMEDCT_US_2015_03_01:423341008
database_cross_reference: SNOMEDCT_US_2015_03_01:423488006
database_cross_reference: SNOMEDCT_US_2015_03_01:6141006
database_cross_reference: SNOMEDCT_US_2015_03_01:73221001
database_cross_reference: UMLS_CUI:C0030353
database_cross_reference: UMLS_CUI:C0155288
database_cross_reference: UMLS_CUI:C0242420
database_cross_reference: UMLS_CUI:C0919308
has_obo_namespace: disease_ontology
has_exact_synonym: papillitis

Axiom
database_cross_reference: CSP2005:2042-6609
annotated target: papillitis
annotated source: optic papillitis
annotated property: has_exact_synonym

neuroretinitis
type: Class
subclass of: DOID 5614
id: DOID:10176
has_exact_synonym: Focal retinitis and retinochoroiditis, juxtapapillary
database_cross_reference: ICD10CM:H30.9
has_exact_synonym: Juxtapapillary focal retinitis AND retinochoroiditis (disorder)
database_cross_reference: MSH:D012173
has_exact_synonym: Papilloretinitis
database_cross_reference: SNOMEDCT_US_2015_03_01:410471004
database_cross_reference: UMLS_CUI:C0154874
has_obo_namespace: disease_ontology

Axiom
annotated target: Focal retinitis and retinochoroiditis, juxtapapillary
database_cross_reference: ICD9CM_2006:363.05
annotated source: neuroretinitis
annotated property: has_exact_synonym

Axiom
annotated target: Juxtapapillary focal retinitis AND retinochoroiditis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:46497009
annotated source: neuroretinitis
annotated property: has_exact_synonym

Axiom
annotated target: Papilloretinitis
database_cross_reference: SNOMEDCT_2005_07_31:410471004
annotated source: neuroretinitis
annotated property: has_exact_synonym

malignant hypertensive renal disease
type: Class
subclass of: renal hypertension
id: DOID:10177
database_cross_reference: SNOMEDCT_US_2015_03_01:65443008
database_cross_reference: UMLS_CUI:C0155593
has_obo_namespace: disease_ontology

diabetic peripheral angiopathy
type: Class
subclass of: DOID 9352
id: DOID:10182
database_cross_reference: ICD9CM:250.7
database_cross_reference: SNOMEDCT_US_2015_03_01:127014009
database_cross_reference: SNOMEDCT_US_2015_03_01:190354007
database_cross_reference: SNOMEDCT_US_2015_03_01:190361006
database_cross_reference: SNOMEDCT_US_2015_03_01:267383000
database_cross_reference: SNOMEDCT_US_2015_03_01:267473003
database_cross_reference: SNOMEDCT_US_2015_03_01:982001
database_cross_reference: UMLS_CUI:C0011871
has_obo_namespace: disease_ontology

endobronchial lipoma
type: Class
subclass of: DOID 3906
id: DOID:10183
database_cross_reference: NCI:C5063
database_cross_reference: UMLS_CUI:C0852937
has_obo_namespace: disease_ontology

spindle cell lipoma
type: Class
subclass of: DOID 3315
definition: A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
id: DOID:10184
database_cross_reference: NCI:C4254
database_cross_reference: SNOMEDCT_US_2015_03_01:27313007
database_cross_reference: SNOMEDCT_US_2015_03_01:404058008
database_cross_reference: UMLS_CUI:C0334474
has_obo_namespace: disease_ontology
has_exact_synonym: spindle cell Lipoma
has_exact_synonym: spindle cell lipoma (disorder)
has_exact_synonym: spindle cell lipoma (morphologic abnormality)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:27313007
annotated target: spindle cell lipoma (morphologic abnormality)
annotated source: spindle cell lipoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4254
annotated target: spindle cell Lipoma
annotated source: spindle cell lipoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:404058008
annotated target: spindle cell lipoma (disorder)
annotated source: spindle cell lipoma
annotated property: has_exact_synonym

Axiom
annotated target: A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lipoma
annotated source: spindle cell lipoma
annotated property: definition

esophageal lipoma
type: Class
subclass of: gastrointestinal system benign neoplasm
subclass of: DOID 3315
id: DOID:10187
has_exact_synonym: Lipoma of esophagus
database_cross_reference: NCI:C5701
database_cross_reference: UMLS_CUI:C1333455
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of esophagus
database_cross_reference: NCI2004_11_17:C5701
annotated source: esophageal lipoma
annotated property: has_exact_synonym

skin lipoma
type: Class
subclass of: DOID 3165
subclass of: DOID 3315
has_exact_synonym: Cutaneous Lipoma
id: DOID:10188
has_alternative_id: DOID:10198
has_alternative_id: DOID:3943
database_cross_reference: ICD9CM:214.0
has_exact_synonym: Lipoma of skin (disorder)
has_exact_synonym: Lipoma of skin and subcutaneous tissue of face
has_exact_synonym: Lipoma of skin and subcutaneous tissue of face (disorder)
has_exact_synonym: Lipoma of skin and subcutaneous tissue of face NOS (disorder)
has_exact_synonym: Lipomatous tumor of skin
database_cross_reference: NCI:C4616
database_cross_reference: NCI:C5566
database_cross_reference: SNOMEDCT_US_2015_03_01:188989000
database_cross_reference: SNOMEDCT_US_2015_03_01:255187008
database_cross_reference: SNOMEDCT_US_2015_03_01:93159009
database_cross_reference: UMLS_CUI:C0153968
database_cross_reference: UMLS_CUI:C0347394
database_cross_reference: UMLS_CUI:C1333174
has_exact_synonym: cutaneous lipomatous tumor
has_obo_namespace: disease_ontology
has_exact_synonym: lipoma of face

Axiom
annotated target: Cutaneous Lipoma
database_cross_reference: NCI2004_11_17:C4616
annotated source: skin lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Lipoma of skin and subcutaneous tissue of face (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:93159009
annotated source: skin lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Lipomatous tumor of skin
database_cross_reference: NCI2004_11_17:C5566
annotated source: skin lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Lipoma of skin (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:255187008
annotated source: skin lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Lipoma of skin and subcutaneous tissue of face NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:188989000
annotated source: skin lipoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:214.0
annotated target: Lipoma of skin and subcutaneous tissue of face
annotated source: skin lipoma
annotated property: has_exact_synonym

osteomyelitis
type: Class
subclass of: DOID 3342
definition: A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
has_alternative_id: DOID:1018
id: DOID:1019
has_alternative_id: DOID:1020
has_alternative_id: DOID:10281
has_alternative_id: DOID:10282
has_alternative_id: DOID:10692
has_alternative_id: DOID:10860
has_alternative_id: DOID:1164
has_alternative_id: DOID:11788
has_alternative_id: DOID:11959
has_alternative_id: DOID:12011
has_alternative_id: DOID:13673
has_alternative_id: DOID:13674
has_alternative_id: DOID:13675
has_alternative_id: DOID:13678
has_alternative_id: DOID:13684
has_alternative_id: DOID:13737
has_alternative_id: DOID:14003
has_alternative_id: DOID:14100
has_alternative_id: DOID:14166
has_alternative_id: DOID:2249
has_alternative_id: DOID:2250
has_alternative_id: DOID:5858
has_alternative_id: DOID:9456
database_cross_reference: ICD9CM:730.01
database_cross_reference: ICD9CM:730.1
database_cross_reference: ICD9CM:730.10
database_cross_reference: ICD9CM:730.11
database_cross_reference: SNOMEDCT_US_2015_03_01:156791003
database_cross_reference: SNOMEDCT_US_2015_03_01:156800002
database_cross_reference: SNOMEDCT_US_2015_03_01:203181001
database_cross_reference: SNOMEDCT_US_2015_03_01:203183003
database_cross_reference: SNOMEDCT_US_2015_03_01:203205002
database_cross_reference: SNOMEDCT_US_2015_03_01:40970001
database_cross_reference: UMLS_CUI:C0008707
database_cross_reference: UMLS_CUI:C0158372
database_cross_reference: UMLS_CUI:C0158381
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
database_cross_reference: url:http://en.wikipedia.org/wiki/Osteomyelitis
database_cross_reference: url:http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx
database_cross_reference: url:http://www.mayoclinic.com/health/osteomyelitis/DS00759
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm
annotated source: osteomyelitis
annotated property: definition

liver lipoma
type: Class
subclass of: DOID 3315
subclass of: DOID 409
subclass of: DOID 916
id: DOID:10190
has_exact_synonym: Lipoma of the Liver
database_cross_reference: NCI:C5750
database_cross_reference: UMLS_CUI:C1333970
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of the Liver
database_cross_reference: NCI2004_11_17:C5750
annotated source: liver lipoma
annotated property: has_exact_synonym

autosomal deletion syndrome
type: Class
id: DOID:10191
has_obo_namespace: disease_ontology
deprecated: true

pleomorphic lipoma
type: Class
subclass of: DOID 3315
definition: A lipoma that is characterized by floret giant cells with overlapping nuclei.
id: DOID:10192
database_cross_reference: MSH:D008067
database_cross_reference: NCI:C3703
has_exact_synonym: Pleomorphic Lipoma
has_exact_synonym: Pleomorphic lipoma
has_exact_synonym: Pleomorphic lipoma (disorder)
has_exact_synonym: Pleomorphic lipoma (morphologic abnormality)
database_cross_reference: SNOMEDCT_US_2015_03_01:189783001
database_cross_reference: SNOMEDCT_US_2015_03_01:21396005
database_cross_reference: SNOMEDCT_US_2015_03_01:404059000
database_cross_reference: UMLS_CUI:C0205823
has_obo_namespace: disease_ontology

Axiom
annotated target: Pleomorphic lipoma (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:404059000
annotated source: pleomorphic lipoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3703
annotated target: Pleomorphic Lipoma
annotated source: pleomorphic lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Pleomorphic lipoma (morphologic abnormality)
database_cross_reference: SNOMEDCT_2005_07_31:21396005
annotated source: pleomorphic lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Pleomorphic lipoma
database_cross_reference: SNOMEDCT_2005_07_31:189783001
annotated source: pleomorphic lipoma
annotated property: has_exact_synonym

Axiom
annotated target: A lipoma that is characterized by floret giant cells with overlapping nuclei.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma
annotated source: pleomorphic lipoma
annotated property: definition

classic type lipoma
type: Class
subclass of: DOID 3315
id: DOID:10193
database_cross_reference: NCI:C27530
database_cross_reference: UMLS_CUI:C1333059
has_obo_namespace: disease_ontology

kidney lipoma
type: Class
subclass of: DOID 3116
subclass of: DOID 3315
id: DOID:10194
has_exact_synonym: Lipoma of kidney
database_cross_reference: NCI:C5101
database_cross_reference: UMLS_CUI:C1335744
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of kidney
database_cross_reference: NCI2004_11_17:C5101
annotated source: kidney lipoma
annotated property: has_exact_synonym

pleural lipoma
type: Class
subclass of: respiratory system benign neoplasm
subclass of: DOID 3315
id: DOID:10195
has_exact_synonym: Lipoma of Pleura
database_cross_reference: NCI:C6644
database_cross_reference: UMLS_CUI:C1335434
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of Pleura
database_cross_reference: NCI2004_11_17:C6644
annotated source: pleural lipoma
annotated property: has_exact_synonym

breast lipoma
type: Class
subclass of: breast benign neoplasm
subclass of: DOID 3315
id: DOID:10199
has_exact_synonym: Lipoma of breast (disorder)
database_cross_reference: NCI:C4647
database_cross_reference: SNOMEDCT_US_2015_03_01:276891009
database_cross_reference: UMLS_CUI:C0349565
has_exact_synonym: breast Lipoma
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C4647
annotated target: breast Lipoma
annotated source: breast lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Lipoma of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:276891009
annotated source: breast lipoma
annotated property: has_exact_synonym

chest wall lipoma
type: Class
subclass of: thoracic benign neoplasm
subclass of: DOID 3315
id: DOID:10200
has_exact_synonym: Lipoma of the Chest Wall
database_cross_reference: NCI:C6719
database_cross_reference: SNOMEDCT_US_2015_03_01:448270009
database_cross_reference: UMLS_CUI:C1332932
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of the Chest Wall
database_cross_reference: NCI2004_11_17:C6719
annotated source: chest wall lipoma
annotated property: has_exact_synonym

gallbladder lipoma
type: Class
subclass of: bladder benign neoplasm
subclass of: biliary tract neoplasm
subclass of: gallbladder disease
subclass of: DOID 3315
id: DOID:10201
has_exact_synonym: Lipoma of the gallbladder
database_cross_reference: NCI:C5835
database_cross_reference: UMLS_CUI:C1333747
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of the gallbladder
database_cross_reference: NCI2004_11_17:C5835
annotated source: gallbladder lipoma
annotated property: has_exact_synonym

lipoma of intrathoracic organ
type: Class
id: DOID:10202
has_exact_synonym: Lipoma of intrathoracic organs (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Lipoma of intrathoracic organs (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:93158001
annotated source: lipoma of intrathoracic organ
annotated property: has_exact_synonym

external auditory meatus lipoma
type: Class
subclass of: sensory organ benign neoplasm
id: DOID:10203
has_exact_synonym: Lipoma of external auditory meatus (disorder)
has_exact_synonym: Lipoma of the External ear
database_cross_reference: NCI:C4618
database_cross_reference: SNOMEDCT_US_2015_03_01:188988008
database_cross_reference: UMLS_CUI:C0347423
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of external auditory meatus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:188988008
annotated source: external auditory meatus lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Lipoma of the External ear
database_cross_reference: NCI2004_11_17:C4618
annotated source: external auditory meatus lipoma
annotated property: has_exact_synonym

lipoma of intra-abdominal organ
type: Class
id: DOID:10204
has_exact_synonym: Lipoma of intra-abdominal organs (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Lipoma of intra-abdominal organs (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:93157006
annotated source: lipoma of intra-abdominal organ
annotated property: has_exact_synonym

axillary lipoma
type: Class
subclass of: thoracic benign neoplasm
definition: An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
id: DOID:10205
has_exact_synonym: Lipoma of axilla (disorder)
database_cross_reference: NCI:C35419
database_cross_reference: SNOMEDCT_US_2015_03_01:188993006
database_cross_reference: UMLS_CUI:C0347429
has_obo_namespace: disease_ontology

Axiom
annotated target: An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Axilla
database_cross_reference: url:http://en.wikipedia.org/wiki/Lipoma
annotated source: axillary lipoma
annotated property: definition

Axiom
annotated target: Lipoma of axilla (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:188993006
annotated source: axillary lipoma
annotated property: has_exact_synonym

lipoma of spermatic cord
type: Class
subclass of: paratesticular lipoma
subclass of: DOID 3315
id: DOID:10206
database_cross_reference: ICD9CM:214.4
has_exact_synonym: Lipoma of spermatic cord
has_exact_synonym: Lipoma of spermatic cord (disorder)
database_cross_reference: NCI:C3606
database_cross_reference: SNOMEDCT_US_2015_03_01:93162007
has_exact_synonym: Spermatic Cord Lipoma
database_cross_reference: UMLS_CUI:C0153972
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of spermatic cord (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:93162007
annotated source: lipoma of spermatic cord
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:214.4
annotated target: Lipoma of spermatic cord
annotated source: lipoma of spermatic cord
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3606
annotated target: Spermatic Cord Lipoma
annotated source: lipoma of spermatic cord
annotated property: has_exact_synonym

paratesticular lipoma
type: Class
subclass of: reproductive organ benign neoplasm
id: DOID:10207
database_cross_reference: NCI:C6384
database_cross_reference: UMLS_CUI:C1335348
has_obo_namespace: disease_ontology

chondroid lipoma
type: Class
subclass of: DOID 3315
definition: A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
has_exact_synonym: Chondroid lipoma (disorder)
has_exact_synonym: Chondroid lipoma (morphologic abnormality)
id: DOID:10208
database_cross_reference: NCI:C6503
database_cross_reference: SNOMEDCT_US_2015_03_01:128746001
database_cross_reference: SNOMEDCT_US_2015_03_01:404065000
database_cross_reference: UMLS_CUI:C1266131
has_obo_namespace: disease_ontology

Axiom
annotated target: A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
database_cross_reference: url:http://en.wikipedia.org/wiki/Lipoma
annotated source: chondroid lipoma
annotated property: definition

Axiom
annotated target: Chondroid lipoma (morphologic abnormality)
database_cross_reference: SNOMEDCT_2005_07_31:128746001
annotated source: chondroid lipoma
annotated property: has_exact_synonym

Axiom
annotated target: Chondroid lipoma (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:404065000
annotated source: chondroid lipoma
annotated property: has_exact_synonym

extrahepatic bile duct lipoma
type: Class
subclass of: biliary tract neoplasm
subclass of: DOID 3315
subclass of: DOID 4138
id: DOID:10209
has_exact_synonym: Lipoma of the extrahepatic bile duct
database_cross_reference: NCI:C5854
database_cross_reference: UMLS_CUI:C1333509
has_obo_namespace: disease_ontology

Axiom
annotated target: Lipoma of the extrahepatic bile duct
database_cross_reference: NCI2004_11_17:C5854
annotated source: extrahepatic bile duct lipoma
annotated property: has_exact_synonym

calculus of gallbladder and bile duct without cholecystitis
type: Class
id: DOID:10210
has_alternative_id: DOID:10212
has_exact_synonym: calculus of gallbladder and bile duct without cholecystitis, with obstruction
has_obo_namespace: disease_ontology
deprecated: true

cholelithiasis
type: Class
subclass of: gallbladder disease
id: DOID:10211
database_cross_reference: EFO:0004799
database_cross_reference: ICD9CM:574.5
database_cross_reference: SNOMEDCT_US_2015_03_01:197397004
database_cross_reference: SNOMEDCT_US_2015_03_01:266475002
database_cross_reference: UMLS_CUI:C0006739
has_obo_namespace: disease_ontology

pinta disease
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
has_alternative_id: DOID:1021
id: DOID:1022
has_alternative_id: DOID:10490
has_alternative_id: DOID:1813
has_alternative_id: DOID:3573
database_cross_reference: ICD10CM:A67
database_cross_reference: ICD10CM:A67.0
database_cross_reference: ICD10CM:A67.1
database_cross_reference: ICD10CM:A67.2
database_cross_reference: ICD10CM:A67.3
database_cross_reference: ICD10CM:A67.9
database_cross_reference: ICD9CM:103
database_cross_reference: ICD9CM:103.0
database_cross_reference: ICD9CM:103.1
database_cross_reference: ICD9CM:103.2
database_cross_reference: ICD9CM:103.3
database_cross_reference: ICD9CM:103.9
database_cross_reference: MSH:D010874
database_cross_reference: NCI:C85011
database_cross_reference: SNOMEDCT_US_2015_03_01:186975003
database_cross_reference: SNOMEDCT_US_2015_03_01:186976002
database_cross_reference: SNOMEDCT_US_2015_03_01:187373005
database_cross_reference: SNOMEDCT_US_2015_03_01:22064009
database_cross_reference: SNOMEDCT_US_2015_03_01:240685007
database_cross_reference: SNOMEDCT_US_2015_03_01:4669001
database_cross_reference: SNOMEDCT_US_2015_03_01:68131004
database_cross_reference: SNOMEDCT_US_2015_03_01:68202005
database_cross_reference: SNOMEDCT_US_2015_03_01:7251008
database_cross_reference: SNOMEDCT_US_2015_03_01:73594001
database_cross_reference: UMLS_CUI:C0031946
database_cross_reference: UMLS_CUI:C0153241
database_cross_reference: UMLS_CUI:C0153242
database_cross_reference: UMLS_CUI:C0153243
database_cross_reference: UMLS_CUI:C0153244
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
database_cross_reference: url:http://emedicine.medscape.com/article/225576-overview#a0104
annotated source: pinta disease
annotated property: definition

failed induction
type: Class
id: DOID:10220
has_alternative_id: DOID:10221
has_exact_synonym: Failed mechanical induction of labor, antepartum
has_obo_namespace: disease_ontology
deprecated: true

polymyositis
type: Class
id: DOID:10222
has_obo_namespace: disease_ontology
deprecated: true

dermatomyositis
type: Class
subclass of: DOID 633
definition: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
has_related_synonym: Amyopathic dermatomyositis
id: DOID:10223
has_exact_synonym: Dermatopolymyositis, unspecified
database_cross_reference: ICD10CM:M33
database_cross_reference: ICD10CM:M33.9
database_cross_reference: ICD10CM:M33.90
database_cross_reference: ICD9CM:710.3
comment: MSH:C538250 added from NeuroDevNet [WAK].
database_cross_reference: MSH:D003882
database_cross_reference: NCI:C26744
has_exact_synonym: Polymyositis with skin involvement
database_cross_reference: SNOMEDCT_US_2015_03_01:156456005
database_cross_reference: SNOMEDCT_US_2015_03_01:201445002
database_cross_reference: SNOMEDCT_US_2015_03_01:201448000
database_cross_reference: SNOMEDCT_US_2015_03_01:203795006
database_cross_reference: SNOMEDCT_US_2015_03_01:38826005
database_cross_reference: SNOMEDCT_US_2015_03_01:396230008
database_cross_reference: UMLS_CUI:C0011633
has_exact_synonym: dermatopolymyositis
has_obo_namespace: disease_ontology

Axiom
annotated target: Amyopathic dermatomyositis
database_cross_reference: MSH:C538250
annotated source: dermatomyositis
annotated property: has_related_synonym

Axiom
database_cross_reference: MTHICD9_2006:710.3
annotated target: Polymyositis with skin involvement
annotated source: dermatomyositis
annotated property: has_exact_synonym

Axiom
annotated target: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dermatomyositis
database_cross_reference: url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis
annotated source: dermatomyositis
annotated property: definition

Axiom
annotated target: Dermatopolymyositis, unspecified
database_cross_reference: SNOMEDCT_2005_07_31:201448000
annotated source: dermatomyositis
annotated property: has_exact_synonym

single episode manic disorder
type: Class
id: DOID:10226
has_obo_namespace: disease_ontology
deprecated: true

partial epilepsy, with impairment of consciousness, with intractable epilepsy
type: Class
id: DOID:10229
has_obo_namespace: disease_ontology
deprecated: true

borderline leprosy
type: Class
subclass of: leprosy
definition: A leprosy that results in small numerous red irregularly shaped plaques.
has_exact_synonym: Borderline leprosy (disorder)
has_exact_synonym: Borderline leprosy [group B]
has_exact_synonym: Borderline or dimorphous leprosy
id: DOID:1023
database_cross_reference: ICD10CM:A30.3
database_cross_reference: ICD9CM:030.3
database_cross_reference: MSH:D015439
has_exact_synonym: Midborderline leprosy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:400008009
database_cross_reference: SNOMEDCT_US_2015_03_01:50521002
database_cross_reference: UMLS_CUI:C0023346
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: Borderline or dimorphous leprosy
database_cross_reference: MTHICD9_2006:030.3
annotated source: borderline leprosy
annotated property: has_exact_synonym

Axiom
annotated target: A leprosy that results in small numerous red irregularly shaped plaques.
database_cross_reference: url:http://emedicine.medscape.com/article/1104977-clinical#a0217
database_cross_reference: url:http://en.wikipedia.org/wiki/Borderline_leprosy
annotated source: borderline leprosy
annotated property: definition

Axiom
annotated target: Borderline leprosy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:50521002
annotated source: borderline leprosy
annotated property: has_exact_synonym

Axiom
annotated target: Borderline leprosy [group B]
database_cross_reference: ICD9CM_2006:030.3
annotated source: borderline leprosy
annotated property: has_exact_synonym

Axiom
annotated target: Midborderline leprosy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:400154003
annotated source: borderline leprosy
annotated property: has_exact_synonym

Axiom
annotated target: Borderline leprosy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:400008009
annotated source: borderline leprosy
annotated property: has_exact_synonym

aortic atherosclerosis
type: Class
subclass of: DOID 1936
has_exact_synonym: Aortic atherosclerosis
has_exact_synonym: Atherosclerosis of aorta (disorder)
id: DOID:10230
database_cross_reference: ICD10CM:I70.0
database_cross_reference: ICD9CM:440.0
database_cross_reference: SNOMEDCT_US_2015_03_01:155415000
database_cross_reference: SNOMEDCT_US_2015_03_01:195252007
database_cross_reference: SNOMEDCT_US_2015_03_01:81817003
database_cross_reference: UMLS_CUI:C0155733
has_obo_namespace: disease_ontology

Axiom
annotated target: Aortic atherosclerosis
database_cross_reference: SNOMEDCT_2005_07_31:155415000
annotated source: aortic atherosclerosis
annotated property: has_exact_synonym

Axiom
annotated target: Atherosclerosis of aorta (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:81817003
annotated source: aortic atherosclerosis
annotated property: has_exact_synonym

Axiom
annotated target: Aortic atherosclerosis
database_cross_reference: SNOMEDCT_2005_07_31:195252007
annotated source: aortic atherosclerosis
annotated property: has_exact_synonym

Histoplasma capsulatum pericarditis
type: Class
definition: An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
id: DOID:10233
has_exact_synonym: Histoplasma capsulatum with pericarditis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/16924162
annotated source: Histoplasma capsulatum pericarditis
annotated property: definition

Axiom
annotated target: Histoplasma capsulatum with pericarditis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187040006
annotated source: Histoplasma capsulatum pericarditis
annotated property: has_exact_synonym

histoplasmosis pericarditis
type: Class
subclass of: DOID 1787
id: DOID:10234
has_exact_synonym: Histoplasmosis with pericarditis (disorder)
database_cross_reference: ICD9CM:115.93
database_cross_reference: SNOMEDCT_US_2015_03_01:187059008
database_cross_reference: UMLS_CUI:C0153279
has_obo_namespace: disease_ontology

Axiom
annotated target: Histoplasmosis with pericarditis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187059008
annotated source: histoplasmosis pericarditis
annotated property: has_exact_synonym

Brown's tendon sheath syndrome
type: Class
subclass of: DOID 9306
has_exact_synonym: Brown tendon sheath syndrome
has_exact_synonym: Brown's (tendon) sheath syndrome
has_exact_synonym: Brown's sheath syndrome
has_exact_synonym: Brown's tendon sheath syndrome (disorder)
id: DOID:10235
database_cross_reference: ICD10CM:H50.61
database_cross_reference: ICD9CM:378.61
database_cross_reference: MSH:D015835
database_cross_reference: SNOMEDCT_US_2015_03_01:35929003
database_cross_reference: UMLS_CUI:C0155339
has_obo_namespace: disease_ontology

Axiom
annotated target: Brown's (tendon) sheath syndrome
database_cross_reference: ICD9CM_2006:378.61
annotated source: Brown's tendon sheath syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Brown's sheath syndrome
database_cross_reference: MTHICD9_2006:378.61
annotated source: Brown's tendon sheath syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Brown's tendon sheath syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:35929003
annotated source: Brown's tendon sheath syndrome
annotated property: has_exact_synonym

exhibitionism
type: Class
subclass of: paraphilia disorder
id: DOID:10236
database_cross_reference: ICD10CM:F65.2
database_cross_reference: ICD9CM:302.4
database_cross_reference: MSH:D005084
database_cross_reference: NCI:C94352
database_cross_reference: SNOMEDCT_US_2015_03_01:154907002
database_cross_reference: SNOMEDCT_US_2015_03_01:191781000
database_cross_reference: SNOMEDCT_US_2015_03_01:192514003
database_cross_reference: SNOMEDCT_US_2015_03_01:268763002
database_cross_reference: SNOMEDCT_US_2015_03_01:58349009
database_cross_reference: UMLS_CUI:C0015269
has_obo_namespace: disease_ontology

pelvic cancer
type: Class
definition: A malignant neoplasm that is manifested in the pelvic region.
id: DOID:10237
has_obo_namespace: disease_ontology
has_exact_synonym: neoplasm of pelvis (disorder)
has_exact_synonym: pelvis neoplasm
deprecated: true

Axiom
annotated target: A malignant neoplasm that is manifested in the pelvic region.
database_cross_reference: url:http://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm
annotated source: pelvic cancer
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:126644004
annotated target: neoplasm of pelvis (disorder)
annotated source: pelvic cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2005-4862
annotated target: pelvis neoplasm
annotated source: pelvic cancer
annotated property: has_exact_synonym

malignant neoplasm of rectum, rectosigmoid junction and anus
type: Class
id: DOID:10238
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)
has_exact_synonym: malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)
has_exact_synonym: malignant neoplasm of rectum, rectosigmoid junction, and anus
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187760008
annotated target: malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)
annotated source: malignant neoplasm of rectum, rectosigmoid junction and anus
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:154
annotated target: malignant neoplasm of rectum, rectosigmoid junction, and anus
annotated source: malignant neoplasm of rectum, rectosigmoid junction and anus
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187766002
annotated target: malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)
annotated source: malignant neoplasm of rectum, rectosigmoid junction and anus
annotated property: has_exact_synonym

malignant neoplasm of pelvic bones, sacrum and coccyx
type: Class
has_exact_synonym: Ca pelvic bones/sacrum/coccyx
has_exact_synonym: Ca pelvic bones/sacrum/coccyx (disorder)
id: DOID:10239
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)
has_exact_synonym: malignant neoplasm of pelvic bones, sacrum, and coccyx
has_exact_synonym: malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)
deprecated: true

Axiom
annotated target: Ca pelvic bones/sacrum/coccyx (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:269573006
annotated source: malignant neoplasm of pelvic bones, sacrum and coccyx
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187952001
annotated target: malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)
annotated source: malignant neoplasm of pelvic bones, sacrum and coccyx
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:170.6
annotated target: malignant neoplasm of pelvic bones, sacrum, and coccyx
annotated source: malignant neoplasm of pelvic bones, sacrum and coccyx
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187958002
annotated target: malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)
annotated source: malignant neoplasm of pelvic bones, sacrum and coccyx
annotated property: has_exact_synonym

Axiom
annotated target: Ca pelvic bones/sacrum/coccyx
database_cross_reference: SNOMEDCT_2005_07_31:154498005
annotated source: malignant neoplasm of pelvic bones, sacrum and coccyx
annotated property: has_exact_synonym

leprosy
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
id: DOID:1024
database_cross_reference: EFO:0001054
database_cross_reference: ICD10CM:A30
database_cross_reference: ICD10CM:A30.9
database_cross_reference: ICD9CM:030
database_cross_reference: ICD9CM:030.9
database_cross_reference: MSH:D007918
database_cross_reference: NCI:C84824
database_cross_reference: OMIM:246300
database_cross_reference: OMIM:607572
database_cross_reference: OMIM:609888
database_cross_reference: OMIM:610988
database_cross_reference: OMIM:613223
database_cross_reference: OMIM:613407
database_cross_reference: ORDO:548
database_cross_reference: SNOMEDCT_US_2015_03_01:154298007
database_cross_reference: SNOMEDCT_US_2015_03_01:186339006
database_cross_reference: SNOMEDCT_US_2015_03_01:187316006
database_cross_reference: SNOMEDCT_US_2015_03_01:266184007
database_cross_reference: SNOMEDCT_US_2015_03_01:81004002
database_cross_reference: UMLS_CUI:C0023343
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
database_cross_reference: url:http://emedicine.medscape.com/article/1104977-clinical#a0217
database_cross_reference: url:http://en.wikipedia.org/wiki/Leprosy
annotated source: leprosy
annotated property: definition

malignant neoplasm of pelvis
type: Class
id: DOID:10240
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of pelvis NOS (disorder)
has_exact_synonym: malignant neoplasm of pelvis, NOS
has_exact_synonym: malignant tumor of pelvis (disorder)
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93953009
annotated target: malignant neoplasm of pelvis, NOS
annotated source: malignant neoplasm of pelvis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:188370005
annotated target: malignant neoplasm of pelvis NOS (disorder)
annotated source: malignant neoplasm of pelvis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:363484005
annotated target: malignant tumor of pelvis (disorder)
annotated source: malignant neoplasm of pelvis
annotated property: has_exact_synonym

thalassemia
type: Class
subclass of: autosomal recessive disease
id: DOID:10241
has_alternative_id: DOID:12242
has_alternative_id: DOID:12243
database_cross_reference: ICD10CM:D56
database_cross_reference: ICD10CM:D56.9
database_cross_reference: ICD9CM:282.4
database_cross_reference: ICD9CM:282.40
database_cross_reference: MSH:D013789
database_cross_reference: NCI:C35069
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:604131
database_cross_reference: SNOMEDCT_US_2015_03_01:154796005
database_cross_reference: SNOMEDCT_US_2015_03_01:191182000
database_cross_reference: SNOMEDCT_US_2015_03_01:191192008
database_cross_reference: SNOMEDCT_US_2015_03_01:191193003
database_cross_reference: SNOMEDCT_US_2015_03_01:267521001
database_cross_reference: SNOMEDCT_US_2015_03_01:267557006
database_cross_reference: SNOMEDCT_US_2015_03_01:40108008
database_cross_reference: SNOMEDCT_US_2015_03_01:84188003
has_exact_synonym: Sickle-cell thalassemia with crisis
has_exact_synonym: Sickle-cell thalassemia without crisis
database_cross_reference: UMLS_CUI:C0039730
has_obo_namespace: disease_ontology
has_exact_synonym: thalassemia Hb-S disease with crisis
has_exact_synonym: thalassemia Hb-S disease without crisis

Axiom
database_cross_reference: ICD9CM_2006:282.42
annotated target: Sickle-cell thalassemia with crisis
annotated source: thalassemia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:282.41
annotated target: Sickle-cell thalassemia without crisis
annotated source: thalassemia
annotated property: has_exact_synonym

ehrlichiosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
has_alternative_id: DOID:0050023
id: DOID:10242
database_cross_reference: ICD10CM:A77.4
database_cross_reference: ICD10CM:A77.40
database_cross_reference: ICD9CM:082.4
database_cross_reference: ICD9CM:082.40
database_cross_reference: MSH:D016873
database_cross_reference: SNOMEDCT_US_2015_03_01:77361002
database_cross_reference: UMLS_CUI:C0085399
has_obo_namespace: disease_ontology
has_exact_synonym: human ehrlichiosis
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
database_cross_reference: url:http://emedicine.medscape.com/article/235839-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Ehrlichiosis
annotated source: ehrlichiosis
annotated property: definition

delayed separation of umbilical cord
type: Class
id: DOID:10245
has_obo_namespace: disease_ontology
deprecated: true

pleurisy
type: Class
subclass of: DOID 1532
definition: A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
id: DOID:10247
database_cross_reference: ICD9CM:511.8
database_cross_reference: UMLS_CUI:C0029799
has_obo_namespace: disease_ontology

Axiom
annotated target: A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pleurisy
database_cross_reference: url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2
annotated source: pleurisy
annotated property: definition

tuberculoid leprosy
type: Class
subclass of: leprosy
definition: A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
id: DOID:1025
database_cross_reference: ICD10CM:A30.1
database_cross_reference: ICD9CM:030.1
database_cross_reference: MSH:D015441
database_cross_reference: SNOMEDCT_US_2015_03_01:70143003
has_exact_synonym: Smooth leprosy
has_exact_synonym: Tuberculoid leprosy [type T]
database_cross_reference: UMLS_CUI:C0023351
has_obo_namespace: disease_ontology
has_exact_synonym: type T leprosy
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:70143003
annotated target: Smooth leprosy
annotated source: tuberculoid leprosy
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:030.1
annotated target: type T leprosy
annotated source: tuberculoid leprosy
annotated property: has_exact_synonym

Axiom
annotated target: A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
database_cross_reference: url:http://emedicine.medscape.com/article/1104977-clinical#a0217
database_cross_reference: url:http://en.wikipedia.org/wiki/Tuberculoid_leprosy
annotated source: tuberculoid leprosy
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:030.1
annotated target: Tuberculoid leprosy [type T]
annotated source: tuberculoid leprosy
annotated property: has_exact_synonym

louping ill
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs.
id: DOID:10250
database_cross_reference: ICD10CM:A84.8
database_cross_reference: ICD9CM:063.1
has_exact_synonym: Louping ill
database_cross_reference: MSH:D008146
database_cross_reference: SNOMEDCT_US_2015_03_01:59350003
database_cross_reference: UMLS_CUI:C0024025
has_obo_namespace: disease_ontology
in_subset: tick-borne infectious disease

Axiom
database_cross_reference: ICD9CM_2006:063.1
annotated target: Louping ill
annotated source: louping ill
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs.
database_cross_reference: url:http://www.defra.gov.uk/foodfarm/farmanimal/diseases/vetsurveillance/profiles/documents/sp-loupingill.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15606630
annotated source: louping ill
annotated property: definition

strawberry gallbladder
type: Class
subclass of: gallbladder disease
has_exact_synonym: Cholesterolosis of gallbladder
has_exact_synonym: Cholesterolosis of gallbladder (disorder)
id: DOID:10254
database_cross_reference: ICD10CM:K82.4
database_cross_reference: ICD9CM:575.6
database_cross_reference: SNOMEDCT_US_2015_03_01:61565001
database_cross_reference: UMLS_CUI:C0152456
has_obo_namespace: disease_ontology

Axiom
annotated target: Cholesterolosis of gallbladder
database_cross_reference: ICD9CM_2006:575.6
annotated source: strawberry gallbladder
annotated property: has_exact_synonym

Axiom
annotated target: Cholesterolosis of gallbladder (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:61565001
annotated source: strawberry gallbladder
annotated property: has_exact_synonym

conjunctival degenerations and deposits
type: Class
has_exact_synonym: Conjunctival degenerations and deposits (disorder)
id: DOID:10255
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Conjunctival degenerations and deposits (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193885005
annotated source: conjunctival degenerations and deposits
annotated property: has_exact_synonym

vitamin A deficiency with conjunctival xerosis
type: Class
id: DOID:10256
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: vitamin A deficiency with conjunctival xerosis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:27796003
annotated target: vitamin A deficiency with conjunctival xerosis (disorder)
annotated source: vitamin A deficiency with conjunctival xerosis
annotated property: has_exact_synonym

vitamin A deficiency
type: Class
id: DOID:10257
has_obo_namespace: disease_ontology
deprecated: true

discharging ear
type: Class
subclass of: DOID 2742
id: DOID:10261
database_cross_reference: ICD10CM:H92.1
database_cross_reference: ICD10CM:H92.10
database_cross_reference: ICD9CM:388.6
database_cross_reference: ICD9CM:388.60
database_cross_reference: NCI:C35199
database_cross_reference: SNOMEDCT_US_2015_03_01:139633004
database_cross_reference: SNOMEDCT_US_2015_03_01:155250006
database_cross_reference: SNOMEDCT_US_2015_03_01:162364004
database_cross_reference: SNOMEDCT_US_2015_03_01:194403000
database_cross_reference: SNOMEDCT_US_2015_03_01:194405007
database_cross_reference: SNOMEDCT_US_2015_03_01:267676003
database_cross_reference: SNOMEDCT_US_2015_03_01:300132001
database_cross_reference: SNOMEDCT_US_2015_03_01:65668001
database_cross_reference: UMLS_CUI:C0155540
has_obo_namespace: disease_ontology

Mumps virus hepatitis
type: Class
definition: A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.
id: DOID:10263
has_exact_synonym: Mumps hepatitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.
database_cross_reference: url:url:http://www.ncbi.nlm.nih.gov/pubmed/13361586
annotated source: Mumps virus hepatitis
annotated property: definition

Axiom
annotated target: Mumps hepatitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:89231008
annotated source: Mumps virus hepatitis
annotated property: has_exact_synonym

mumps
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
id: DOID:10264
database_cross_reference: ICD10CM:B26
database_cross_reference: ICD10CM:B26.9
database_cross_reference: ICD9CM:072
database_cross_reference: MSH:D009107
database_cross_reference: NCI:C29888
database_cross_reference: SNOMEDCT_US_2015_03_01:154352008
database_cross_reference: SNOMEDCT_US_2015_03_01:186651001
database_cross_reference: SNOMEDCT_US_2015_03_01:186652008
database_cross_reference: SNOMEDCT_US_2015_03_01:240526004
database_cross_reference: SNOMEDCT_US_2015_03_01:36989005
database_cross_reference: UMLS_CUI:C0026780
has_obo_namespace: disease_ontology

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
database_cross_reference: url:http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf
annotated source: mumps
annotated property: definition

hairy cell leukemia of spleen
type: Class
subclass of: DOID 285
subclass of: DOID 672
id: DOID:10265
has_exact_synonym: Hairy cell leukemia of spleen (disorder)
database_cross_reference: ICD9CM:202.47
has_exact_synonym: Leukemic reticuloendotheliosis involving spleen
has_exact_synonym: Leukemic reticuloendotheliosis of spleen (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:188651007
database_cross_reference: SNOMEDCT_US_2015_03_01:93151007
database_cross_reference: UMLS_CUI:C0153832
has_obo_namespace: disease_ontology

Axiom
annotated target: Leukemic reticuloendotheliosis of spleen (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:188651007
annotated source: hairy cell leukemia of spleen
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:202.47
annotated target: Leukemic reticuloendotheliosis involving spleen
annotated source: hairy cell leukemia of spleen
annotated property: has_exact_synonym

Axiom
annotated target: Hairy cell leukemia of spleen (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:93151007
annotated source: hairy cell leukemia of spleen
annotated property: has_exact_synonym

subendocardial infarction acute myocardial infarction
type: Class
subclass of: DOID 9408
id: DOID:10266
database_cross_reference: ICD9CM:410.7
database_cross_reference: UMLS_CUI:C0155655
has_obo_namespace: disease_ontology

left bundle branch hemiblock
type: Class
subclass of: heart conduction disease
id: DOID:10272
database_cross_reference: ICD10CM:I44.60
database_cross_reference: ICD9CM:426.2
has_exact_synonym: Left bundle branch [block] or [hemiblock]
has_exact_synonym: Left bundle branch hemiblock (disorder)
has_exact_synonym: Left bundle branch hemiblock NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:195044001
database_cross_reference: SNOMEDCT_US_2015_03_01:195045000
database_cross_reference: SNOMEDCT_US_2015_03_01:266245009
database_cross_reference: SNOMEDCT_US_2015_03_01:4973001
database_cross_reference: UMLS_CUI:C0155702
has_obo_namespace: disease_ontology

Axiom
annotated target: Left bundle branch [block] or [hemiblock]
database_cross_reference: SNOMEDCT_2005_07_31:195044001
annotated source: left bundle branch hemiblock
annotated property: has_exact_synonym

Axiom
annotated target: Left bundle branch hemiblock (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:4973001
annotated source: left bundle branch hemiblock
annotated property: has_exact_synonym

Axiom
annotated target: Left bundle branch hemiblock NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195045000
annotated source: left bundle branch hemiblock
annotated property: has_exact_synonym

heart conduction disease
type: Class
subclass of: DOID 1287
definition: A cardiovascular system disease that involves the heart's electrical conduction system.
id: DOID:10273
database_cross_reference: ICD9CM:426.6
database_cross_reference: SNOMEDCT_US_2015_03_01:195053008
database_cross_reference: SNOMEDCT_US_2015_03_01:195056000
database_cross_reference: UMLS_CUI:C0029630
has_obo_namespace: disease_ontology
has_exact_synonym: heart rhythm disease

Axiom
annotated target: A cardiovascular system disease that involves the heart's electrical conduction system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Conduction_system_of_the_heart
annotated source: heart conduction disease
annotated property: definition

schizo-affective type schizophrenia in remission
type: Class
id: DOID:10274
has_obo_namespace: disease_ontology
deprecated: true

Pseudomonas intestinal infectious disease
type: Class
definition: A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.
id: DOID:10277
has_obo_namespace: disease_ontology
has_exact_synonym: intestinal infection due to Pseudomonas (disorder)
has_exact_synonym: intestinal infectious disease due to pseudomonas
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.
database_cross_reference: url:http://emedicine.medscape.com/article/970904-overview
annotated source: Pseudomonas intestinal infectious disease
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:82930004
annotated target: intestinal infection due to Pseudomonas (disorder)
annotated source: Pseudomonas intestinal infectious disease
annotated property: has_exact_synonym

Vasa previa complicating labor and delivery
type: Class
id: DOID:10278
has_exact_synonym: Vasa previa complicating labor and delivery, unspecified as to episode of care
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:663.50
annotated target: Vasa previa complicating labor and delivery, unspecified as to episode of care
annotated source: Vasa previa complicating labor and delivery
annotated property: has_exact_synonym

Vasa previa
type: Class
id: DOID:10279
has_exact_synonym: Vasa praevia
has_exact_synonym: Vasa previa (disorder)
has_exact_synonym: Vasa previa NOS (disorder)
has_exact_synonym: Vasa previa complicating labor and delivery, antepartum
has_exact_synonym: Vasa previa unspecified (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:199893002
annotated target: Vasa praevia
annotated source: Vasa previa
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:663.53
annotated target: Vasa previa complicating labor and delivery, antepartum
annotated source: Vasa previa
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:199897001
annotated target: Vasa previa NOS (disorder)
annotated source: Vasa previa
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:199894008
annotated target: Vasa previa unspecified (disorder)
annotated source: Vasa previa
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:79668009
annotated target: Vasa previa (disorder)
annotated source: Vasa previa
annotated property: has_exact_synonym

Vasa previa complicating labor and delivery, delivered
type: Class
id: DOID:10280
has_obo_namespace: disease_ontology
deprecated: true

prostate cancer
type: Class
subclass of: DOID 3856
subclass of: DOID 47
definition: A male reproductive organ cancer that is located_in the prostate.
id: DOID:10283
has_alternative_id: DOID:514
database_cross_reference: ICD10CM:C61
database_cross_reference: ICD9CM:185
database_cross_reference: KEGG:05215
database_cross_reference: MSH:D011471
database_cross_reference: NCI:C3343
database_cross_reference: NCI:C7378
has_exact_synonym: NGP - new growth of prostate
database_cross_reference: OMIM:176807
database_cross_reference: OMIM:300147
database_cross_reference: OMIM:300704
database_cross_reference: OMIM:601518
database_cross_reference: OMIM:602759
database_cross_reference: OMIM:608656
database_cross_reference: OMIM:608658
database_cross_reference: OMIM:609299
database_cross_reference: OMIM:609558
database_cross_reference: OMIM:610321
database_cross_reference: OMIM:610997
database_cross_reference: OMIM:611100
database_cross_reference: OMIM:611868
database_cross_reference: OMIM:611928
database_cross_reference: OMIM:611955
database_cross_reference: OMIM:611958
database_cross_reference: OMIM:611959
database_cross_reference: OMIM:614761
database_cross_reference: ORDO:1331
database_cross_reference: SNOMEDCT_US_2015_03_01:126906006
database_cross_reference: SNOMEDCT_US_2015_03_01:363448003
database_cross_reference: SNOMEDCT_US_2015_03_01:399068003
database_cross_reference: SNOMEDCT_US_2015_03_01:93974005
database_cross_reference: UMLS_CUI:C0033578
database_cross_reference: UMLS_CUI:C0376358
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: hereditary prostate cancer
has_exact_synonym: malignant tumor of the prostate
has_exact_synonym: prostate cancer, familial
has_exact_synonym: prostate neoplasm
has_exact_synonym: prostatic cancer
has_exact_synonym: prostatic neoplasm
has_exact_synonym: tumor of the prostate
in_subset: DO MGI slim
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: NCI2004_11_17:C7378
annotated target: malignant tumor of the prostate
annotated source: prostate cancer
annotated property: has_exact_synonym

Axiom
annotated target: A male reproductive organ cancer that is located_in the prostate.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=445079
annotated source: prostate cancer
annotated property: definition

Axiom
database_cross_reference: CSP2005:2016-2641
annotated target: prostatic cancer
annotated source: prostate cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2016-2641
annotated target: prostate neoplasm
annotated source: prostate cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3343
annotated target: tumor of the prostate
annotated source: prostate cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: MSH:C537243
annotated target: prostate cancer, familial
annotated source: prostate cancer
annotated property: has_exact_synonym

Axiom
annotated target: NGP - new growth of prostate
database_cross_reference: SNOMEDCT_2005_07_31:363448003
annotated source: prostate cancer
annotated property: has_exact_synonym

prostate carcinoma
type: Class
subclass of: prostate cancer
subclass of: DOID 305
definition: A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
id: DOID:10286
database_cross_reference: EFO:0001663
database_cross_reference: KEGG:05215
database_cross_reference: NCI:C4863
database_cross_reference: SNOMEDCT_US_2015_03_01:154531004
database_cross_reference: SNOMEDCT_US_2015_03_01:254900004
database_cross_reference: SNOMEDCT_US_2015_03_01:363448003
database_cross_reference: UMLS_CUI:C0600139
has_exact_synonym: cancer of prostate
has_exact_synonym: carcinoma OF PROSTATE
has_exact_synonym: carcinoma of prostate
has_exact_synonym: carcinoma of prostate (disorder)
has_obo_namespace: disease_ontology
in_subset: DO cancer slim

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154531004
annotated target: carcinoma of prostate
annotated source: prostate carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTH:612
annotated target: carcinoma OF PROSTATE
annotated source: prostate carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:254900004
annotated target: carcinoma of prostate (disorder)
annotated source: prostate carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:363448003
annotated target: cancer of prostate
annotated source: prostate carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4863
annotated target: cancer of prostate
annotated source: prostate carcinoma
annotated property: has_exact_synonym

Axiom
annotated target: A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma
annotated source: prostate carcinoma
annotated property: definition

prostate squamous cell carcinoma
type: Class
subclass of: prostate carcinoma
subclass of: DOID 1749
id: DOID:10287
database_cross_reference: NCI:C5536
database_cross_reference: SNOMEDCT_US_2015_03_01:399590005
database_cross_reference: UMLS_CUI:C1302530
has_obo_namespace: disease_ontology
has_related_synonym: squamous cell carcinoma of prostate
has_exact_synonym: squamous cell carcinoma of prostate (disorder)
has_exact_synonym: squamous cell carcinoma of the prostate

Axiom
database_cross_reference: NCI2004_11_17:C5536
annotated target: squamous cell carcinoma of the prostate
annotated source: prostate squamous cell carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:399590005
annotated target: squamous cell carcinoma of prostate (disorder)
annotated source: prostate squamous cell carcinoma
annotated property: has_exact_synonym

metastasis to prostate
type: Class
id: DOID:10288
has_obo_namespace: disease_ontology
has_exact_synonym: metastatic neoplasm to the prostate
has_exact_synonym: secondary malignant neoplasm of prostate (disorder)
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C7080
annotated target: metastatic neoplasm to the prostate
annotated source: metastasis to prostate
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:94503003
annotated target: secondary malignant neoplasm of prostate (disorder)
annotated source: metastasis to prostate
annotated property: has_exact_synonym

prostate malignant phyllodes tumor
type: Class
subclass of: prostate cancer
id: DOID:10289
database_cross_reference: MSH:C549759
database_cross_reference: NCI:C5531
database_cross_reference: UMLS_CUI:C1334615
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Phyllodes neoplasm of the prostate

Axiom
database_cross_reference: NCI2004_11_17:C5531
annotated target: malignant Phyllodes neoplasm of the prostate
annotated source: prostate malignant phyllodes tumor
annotated property: has_exact_synonym

familial periodic paralysis
type: Class
subclass of: DOID 896
id: DOID:1029
database_cross_reference: ICD10CM:G72.3
database_cross_reference: MSH:D010245
database_cross_reference: NCI:C84709
database_cross_reference: SNOMEDCT_US_2015_03_01:155099000
database_cross_reference: SNOMEDCT_US_2015_03_01:193241004
database_cross_reference: SNOMEDCT_US_2015_03_01:267607008
database_cross_reference: SNOMEDCT_US_2015_03_01:267714003
database_cross_reference: SNOMEDCT_US_2015_03_01:54696002
database_cross_reference: UMLS_CUI:C0030443
has_obo_namespace: disease_ontology

prostate lymphoma
type: Class
subclass of: lymphoma
subclass of: prostate cancer
id: DOID:10290
has_exact_synonym: Lymphoma of the prostate
database_cross_reference: NCI:C5533
database_cross_reference: UMLS_CUI:C1335512
has_obo_namespace: disease_ontology
has_exact_synonym: lymphoma of prostate

Axiom
annotated target: Lymphoma of the prostate
database_cross_reference: NCI2004_11_17:C5533
annotated source: prostate lymphoma
annotated property: has_exact_synonym

monocular esotropia
type: Class
subclass of: DOID 9840
id: DOID:10293
database_cross_reference: ICD10CM:H50.01
database_cross_reference: ICD9CM:378.01
database_cross_reference: MSH:D004948
database_cross_reference: SNOMEDCT_US_2015_03_01:194075001
database_cross_reference: SNOMEDCT_US_2015_03_01:5455000
database_cross_reference: UMLS_CUI:C0152204
has_obo_namespace: disease_ontology

intermittent monocular esotropia
type: Class
id: DOID:10294
has_exact_synonym: Intermittent esotropia, monocular
has_exact_synonym: Intermittent monocular esotropia (disorder)
has_exact_synonym: Monocular intermittent esotropia (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Monocular intermittent esotropia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:31447006
annotated source: intermittent monocular esotropia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:378.21
annotated target: Intermittent esotropia, monocular
annotated source: intermittent monocular esotropia
annotated property: has_exact_synonym

Axiom
annotated target: Intermittent monocular esotropia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:194101008
annotated source: intermittent monocular esotropia
annotated property: has_exact_synonym

monocular esotropia with A pattern
type: Class
id: DOID:10295
has_exact_synonym: Monocular esotropia with A pattern (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Monocular esotropia with A pattern (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:58409000
annotated source: monocular esotropia with A pattern
annotated property: has_exact_synonym

monocular esotropia with V pattern
type: Class
id: DOID:10296
has_exact_synonym: Monocular esotropia with V pattern (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Monocular esotropia with V pattern (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:65215002
annotated source: monocular esotropia with V pattern
annotated property: has_exact_synonym

Raynaud disease
type: Class
subclass of: DOID 341
id: DOID:10300
database_cross_reference: ICD10CM:I73.0
database_cross_reference: MSH:D011928
database_cross_reference: NCI:C34972
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:179600
has_exact_synonym: Raynaud's disease
has_exact_synonym: Raynaud's disease (disorder)
has_exact_synonym: Raynaud's syndrome
has_exact_synonym: Raynaud's syndrome (disorder)
has_exact_synonym: Raynaud's syndrome (disorder) [Ambiguous]
has_exact_synonym: Raynaud's syndrome NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:123266007
database_cross_reference: SNOMEDCT_US_2015_03_01:195295006
database_cross_reference: SNOMEDCT_US_2015_03_01:22954002
database_cross_reference: UMLS_CUI:C0034734
has_obo_namespace: disease_ontology

Axiom
annotated target: Raynaud's syndrome
database_cross_reference: SNOMEDCT_2005_07_31:266319002
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:443.0
annotated target: Raynaud's syndrome
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
annotated target: Raynaud's syndrome (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:22954002
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
annotated target: Raynaud's syndrome
database_cross_reference: SNOMEDCT_2005_07_31:155429004
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
annotated target: Raynaud's disease
database_cross_reference: SNOMEDCT_2005_07_31:123266007
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
annotated target: Raynaud's disease (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195295006
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
annotated target: Raynaud's syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195294005
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTH:639
annotated target: Raynaud's disease
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
annotated target: Raynaud's syndrome NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195297003
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C34972
annotated target: Raynaud's disease
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:443.0
annotated target: Raynaud's disease
annotated source: Raynaud disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0571-7333
annotated target: Raynaud's disease
annotated source: Raynaud disease
annotated property: has_exact_synonym

parotitis
type: Class
subclass of: parotid disease
definition: A parotid disease characterized by the inflammation of one or both parotid glands.
id: DOID:10301
database_cross_reference: ICD10CM:K11.2
database_cross_reference: MSH:D010309
database_cross_reference: NCI:C114281
database_cross_reference: SNOMEDCT_US_2015_03_01:14756005
database_cross_reference: SNOMEDCT_US_2015_03_01:196481002
database_cross_reference: SNOMEDCT_US_2015_03_01:196484005
database_cross_reference: UMLS_CUI:C0030583
has_obo_namespace: disease_ontology

Axiom
annotated target: A parotid disease characterized by the inflammation of one or both parotid glands.
database_cross_reference: url:http://en.wikipedia.org/wiki/Parotitis
annotated source: parotitis
annotated property: definition

parotid disease
type: Class
subclass of: salivary gland disease
id: DOID:10302
database_cross_reference: MSH:D010305
database_cross_reference: UMLS_CUI:C0030579
has_obo_namespace: disease_ontology

sialadenitis
type: Class
subclass of: artery disease
subclass of: salivary gland disease
subclass of: DOID 1602
id: DOID:10303
database_cross_reference: ICD10CM:K11.2
database_cross_reference: ICD10CM:K11.20
database_cross_reference: ICD9CM:527.2
database_cross_reference: MSH:D012793
database_cross_reference: NCI:C26882
database_cross_reference: SNOMEDCT_US_2015_03_01:155655005
database_cross_reference: SNOMEDCT_US_2015_03_01:196481002
database_cross_reference: SNOMEDCT_US_2015_03_01:196490009
database_cross_reference: SNOMEDCT_US_2015_03_01:266494007
database_cross_reference: SNOMEDCT_US_2015_03_01:42982001
has_exact_synonym: Sialoadenitis
database_cross_reference: UMLS_CUI:C0037023
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266494007
annotated target: Sialoadenitis
annotated source: sialadenitis
annotated property: has_exact_synonym

Mumps virus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person.
id: DOID:10304
has_exact_synonym: Rubulavirus infectious disease
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person.
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/88.html
annotated source: Mumps virus infectious disease
annotated property: definition

Mumps virus orchitis
type: Class
definition: A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen.
id: DOID:10305
has_exact_synonym: Mumps orchitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001280.htm
annotated source: Mumps virus orchitis
annotated property: definition

Axiom
annotated target: Mumps orchitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:78580004
annotated source: Mumps virus orchitis
annotated property: has_exact_synonym

Mumps virus polyneuritis
type: Class
definition: A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.
id: DOID:10307
has_exact_synonym: Mumps polyneuropathy (disorder)
has_exact_synonym: Polyneuropathy in mumps (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Mumps polyneuropathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:31524007
annotated source: Mumps virus polyneuritis
annotated property: has_exact_synonym

Axiom
annotated target: Polyneuropathy in mumps (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193192002
annotated source: Mumps virus polyneuritis
annotated property: has_exact_synonym

Axiom
annotated target: A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.
database_cross_reference: url:http://www.merckmanuals.com/home/sec06/ch095/ch095h.html
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch193/ch193d.html
annotated source: Mumps virus polyneuritis
annotated property: definition

Mumps virus meningitis
type: Class
definition: A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness.
id: DOID:10309
has_exact_synonym: Mumps meningitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness.
database_cross_reference: url:http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784
annotated source: Mumps virus meningitis
annotated property: definition

Axiom
annotated target: Mumps meningitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:44201003
annotated source: Mumps virus meningitis
annotated property: has_exact_synonym

viral meningitis
type: Class
subclass of: DOID 9471
id: DOID:10310
database_cross_reference: ICD10CM:A87
database_cross_reference: ICD10CM:A87.9
database_cross_reference: ICD9CM:047.9
database_cross_reference: MSH:D008587
database_cross_reference: SNOMEDCT_US_2015_03_01:154321007
database_cross_reference: SNOMEDCT_US_2015_03_01:154984006
database_cross_reference: SNOMEDCT_US_2015_03_01:154985007
database_cross_reference: SNOMEDCT_US_2015_03_01:186490006
database_cross_reference: SNOMEDCT_US_2015_03_01:187403007
database_cross_reference: SNOMEDCT_US_2015_03_01:192672003
database_cross_reference: SNOMEDCT_US_2015_03_01:266097006
database_cross_reference: SNOMEDCT_US_2015_03_01:266190006
database_cross_reference: SNOMEDCT_US_2015_03_01:267575007
database_cross_reference: SNOMEDCT_US_2015_03_01:267680008
database_cross_reference: SNOMEDCT_US_2015_03_01:58170007
database_cross_reference: UMLS_CUI:C0025297
has_obo_namespace: disease_ontology

Mumps virus encephalitis
type: Class
definition: A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech.
id: DOID:10311
has_exact_synonym: Mumps encephalitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Mumps encephalitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:31646008
annotated source: Mumps virus encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/5046780
annotated source: Mumps virus encephalitis
annotated property: definition

Mumps virus pancreatitis
type: Class
definition: A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting.
id: DOID:10312
has_exact_synonym: Mumps pancreatitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Mumps pancreatitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:10665004
annotated source: Mumps virus pancreatitis
annotated property: has_exact_synonym

Axiom
annotated target: A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting.
database_cross_reference: url:http://emedicine.medscape.com/article/966678-overview
annotated source: Mumps virus pancreatitis
annotated property: definition

endocarditis
type: Class
subclass of: endocardium disease
definition: A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
id: DOID:10314
has_alternative_id: DOID:14058
database_cross_reference: ICD10CM:I33.9
database_cross_reference: ICD9CM:421.9
database_cross_reference: MSH:D004696
database_cross_reference: NCI:C34582
database_cross_reference: NCI:C35432
database_cross_reference: SNOMEDCT_US_2015_03_01:194935007
database_cross_reference: SNOMEDCT_US_2015_03_01:56819008
database_cross_reference: SNOMEDCT_US_2015_03_01:91357005
database_cross_reference: UMLS_CUI:C0014118
database_cross_reference: UMLS_CUI:C0375268
has_obo_namespace: disease_ontology

Axiom
annotated target: A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
database_cross_reference: url:http://wn.wikipedia.org/wiki/Endocarditis
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/
annotated source: endocarditis
annotated property: definition

pneumoconiosis
type: Class
subclass of: DOID 3082
definition: An interstitial lung disease that is caused by the inhalation of dust.
id: DOID:10316
database_cross_reference: ICD10CM:J64
database_cross_reference: ICD9CM:505
database_cross_reference: MSH:D011009
database_cross_reference: NCI:C26861
database_cross_reference: SNOMEDCT_US_2015_03_01:155587002
database_cross_reference: SNOMEDCT_US_2015_03_01:155591007
database_cross_reference: SNOMEDCT_US_2015_03_01:196004000
database_cross_reference: SNOMEDCT_US_2015_03_01:196016006
database_cross_reference: SNOMEDCT_US_2015_03_01:266401007
database_cross_reference: SNOMEDCT_US_2015_03_01:40122008
database_cross_reference: UMLS_CUI:C0032273
has_obo_namespace: disease_ontology

Axiom
annotated target: An interstitial lung disease that is caused by the inhalation of dust.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pneumoconiosis
annotated source: pneumoconiosis
annotated property: definition

mixed mineral dust pneumoconiosis
type: Class
subclass of: pneumoconiosis
id: DOID:10319
database_cross_reference: NCI:C27559
database_cross_reference: SNOMEDCT_US_2015_03_01:233759002
database_cross_reference: UMLS_CUI:C0340184
has_obo_namespace: disease_ontology
has_exact_synonym: mixed mineral dust pneumoconiosis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:233759002
annotated target: mixed mineral dust pneumoconiosis (disorder)
annotated source: mixed mineral dust pneumoconiosis
annotated property: has_exact_synonym

asbestosis
type: Class
subclass of: pneumoconiosis
definition: A pneumoconiosis caused by inhalation and retention of asbestos fibers.
has_exact_synonym: Asbestosis NOS (disorder)
database_cross_reference: CSP:2596-4484
id: DOID:10320
database_cross_reference: ICD10CM:J61
database_cross_reference: ICD9CM:501
database_cross_reference: MSH:D001195
database_cross_reference: NCI:C84573
database_cross_reference: SNOMEDCT_US_2015_03_01:155589004
database_cross_reference: SNOMEDCT_US_2015_03_01:196006003
database_cross_reference: SNOMEDCT_US_2015_03_01:22607003
database_cross_reference: SNOMEDCT_US_2015_03_01:266400008
database_cross_reference: UMLS_CUI:C0003949
has_obo_namespace: disease_ontology

Axiom
annotated target: A pneumoconiosis caused by inhalation and retention of asbestos fibers.
database_cross_reference: url:http://en.wikipedia.org/wiki/Asbestosis
annotated source: asbestosis
annotated property: definition

Axiom
annotated target: Asbestosis NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:196006003
annotated source: asbestosis
annotated property: has_exact_synonym

baritosis
type: Class
subclass of: pneumoconiosis
has_exact_synonym: Baritosis (disorder)
id: DOID:10321
database_cross_reference: MSH:C537080
database_cross_reference: NCI:C34410
database_cross_reference: SNOMEDCT_US_2015_03_01:50076003
database_cross_reference: UMLS_CUI:C0340177
has_obo_namespace: disease_ontology

Axiom
annotated target: Baritosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:50076003
annotated source: baritosis
annotated property: has_exact_synonym

berylliosis
type: Class
subclass of: pneumoconiosis
definition: A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
has_exact_synonym: Berylliosis (disorder)
id: DOID:10322
database_cross_reference: ICD10CM:J63.2
database_cross_reference: MSH:D001607
database_cross_reference: SNOMEDCT_US_2015_03_01:8247009
database_cross_reference: UMLS_CUI:C0005138
has_exact_synonym: beryllium poisoning
has_obo_namespace: disease_ontology

Axiom
annotated target: A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
database_cross_reference: sn:IEDB
database_cross_reference: url:http://en.wikipedia.org/wiki/Berylliosis
annotated source: berylliosis
annotated property: definition

Axiom
database_cross_reference: CSP2005:1858-2321
annotated target: beryllium poisoning
annotated source: berylliosis
annotated property: has_exact_synonym

Axiom
annotated target: Berylliosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:8247009
annotated source: berylliosis
annotated property: has_exact_synonym

byssinosis
type: Class
subclass of: pneumoconiosis
has_exact_synonym: Byssinosis (disorder)
id: DOID:10323
has_exact_synonym: Flax-dressers' disease
database_cross_reference: ICD10CM:J66.0
database_cross_reference: MSH:D002095
database_cross_reference: NCI:C84605
database_cross_reference: SNOMEDCT_US_2015_03_01:155589004
database_cross_reference: SNOMEDCT_US_2015_03_01:233689004
database_cross_reference: SNOMEDCT_US_2015_03_01:266400008
database_cross_reference: SNOMEDCT_US_2015_03_01:85761009
has_exact_synonym: Stripper's asthma
database_cross_reference: UMLS_CUI:C0006542
has_exact_synonym: cotton mill fever
has_obo_namespace: disease_ontology

Axiom
annotated target: Flax-dressers' disease
database_cross_reference: MTHICD9_2006:504
annotated source: byssinosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2596-2097
annotated target: cotton mill fever
annotated source: byssinosis
annotated property: has_exact_synonym

Axiom
annotated target: Byssinosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:85761009
annotated source: byssinosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:13151001
annotated target: Stripper's asthma
annotated source: byssinosis
annotated property: has_exact_synonym

Axiom
annotated target: Flax-dressers' disease
database_cross_reference: SNOMEDCT_2005_07_31:196014009
annotated source: byssinosis
annotated property: has_exact_synonym

anthracosilicosis
type: Class
subclass of: pneumoconiosis
database_cross_reference: CSP:2596-4484
id: DOID:10324
database_cross_reference: ICD10CM:J60
database_cross_reference: MSH:D000874
database_cross_reference: NCI:C34389
database_cross_reference: SNOMEDCT_US_2015_03_01:33548005
database_cross_reference: UMLS_CUI:C0003164
has_obo_namespace: disease_ontology

silicosis
type: Class
subclass of: pneumoconiosis
definition: A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
id: DOID:10325
has_alternative_id: DOID:14007
database_cross_reference: ICD10CM:J62
database_cross_reference: ICD10CM:J62.8
database_cross_reference: ICD9CM:502
database_cross_reference: MSH:D012829
database_cross_reference: NCI:C3369
has_exact_synonym: Pneumoconiosis due to other silica or silicates
has_exact_synonym: Pneumoconiosis due to silica (disorder)
has_exact_synonym: Pneumoconiosis due to silicates (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:155590008
database_cross_reference: SNOMEDCT_US_2015_03_01:196010000
database_cross_reference: SNOMEDCT_US_2015_03_01:805002
has_exact_synonym: Silica pneumoconiosis NOS (disorder)
has_exact_synonym: Silicotic fibrosis of lung
database_cross_reference: UMLS_CUI:C0037116
has_obo_namespace: disease_ontology
has_exact_synonym: silicotuberculosis

Axiom
database_cross_reference: ICD9CM_2006:502
annotated target: Pneumoconiosis due to other silica or silicates
annotated source: silicosis
annotated property: has_exact_synonym

Axiom
annotated target: Pneumoconiosis due to silicates (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:83316006
annotated source: silicosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:502
annotated target: Silicotic fibrosis of lung
annotated source: silicosis
annotated property: has_exact_synonym

Axiom
annotated target: Pneumoconiosis due to silica (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:805002
annotated source: silicosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196010000
annotated target: Silica pneumoconiosis NOS (disorder)
annotated source: silicosis
annotated property: has_exact_synonym

Axiom
annotated target: A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
database_cross_reference: ls:IEDB
database_cross_reference: url:http://en.wikipedia.org/wiki/Silicosis
annotated source: silicosis
annotated property: definition

Caplan's syndrome
type: Class
subclass of: pneumoconiosis
definition: A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
has_exact_synonym: Caplan syndrome
has_exact_synonym: Caplan's disease
has_exact_synonym: Caplans syndrome
id: DOID:10326
database_cross_reference: MSH:D002205
has_exact_synonym: Rheumatoid pneumoconiosis
database_cross_reference: SNOMEDCT_US_2015_03_01:111280008
database_cross_reference: SNOMEDCT_US_2015_03_01:201813004
database_cross_reference: SNOMEDCT_US_2015_03_01:398640008
database_cross_reference: UMLS_CUI:C0006915
has_obo_namespace: disease_ontology

Axiom
annotated target: A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Caplan%27s_syndrome
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm
annotated source: Caplan's syndrome
annotated property: definition

Axiom
annotated target: Caplans syndrome
database_cross_reference: SNOMEDCT_2005_07_31:201813004
annotated source: Caplan's syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Rheumatoid pneumoconiosis
database_cross_reference: SNOMEDCT_2005_07_31:111280008
annotated source: Caplan's syndrome
annotated property: has_exact_synonym

anthracosis
type: Class
subclass of: pneumoconiosis
has_exact_synonym: Coal Miner's Pneumoconiosis
has_exact_synonym: Coal workers' lung
has_exact_synonym: Coal workers' pneumoconiosis
id: DOID:10327
database_cross_reference: ICD10CM:J60
database_cross_reference: ICD9CM:500
database_cross_reference: MSH:D055008
has_exact_synonym: Melanoedema
database_cross_reference: NCI:C34390
database_cross_reference: SNOMEDCT_US_2015_03_01:155588007
database_cross_reference: SNOMEDCT_US_2015_03_01:29422001
database_cross_reference: UMLS_CUI:C0003165
has_exact_synonym: black lung
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: CSP2005:2596-4484
annotated target: black lung
annotated source: anthracosis
annotated property: has_exact_synonym

Axiom
annotated target: Melanoedema
database_cross_reference: SNOMEDCT_2005_07_31:29422001
annotated source: anthracosis
annotated property: has_exact_synonym

Axiom
annotated target: Coal workers' pneumoconiosis
database_cross_reference: ICD9CM_2006:500
annotated source: anthracosis
annotated property: has_exact_synonym

Axiom
annotated target: Coal workers' pneumoconiosis
database_cross_reference: SNOMEDCT_2005_07_31:155588007
annotated source: anthracosis
annotated property: has_exact_synonym

Axiom
annotated target: Coal Miner's Pneumoconiosis
database_cross_reference: NCI2004_11_17:C34390
annotated source: anthracosis
annotated property: has_exact_synonym

Axiom
annotated target: Coal workers' lung
database_cross_reference: MTHICD9_2006:500
annotated source: anthracosis
annotated property: has_exact_synonym

siderosis
type: Class
subclass of: pneumoconiosis
id: DOID:10328
database_cross_reference: ICD10CM:J63.4
database_cross_reference: MSH:D012806
database_cross_reference: SNOMEDCT_US_2015_03_01:155591007
database_cross_reference: SNOMEDCT_US_2015_03_01:266401007
database_cross_reference: SNOMEDCT_US_2015_03_01:62371005
database_cross_reference: UMLS_CUI:C0037061
has_obo_namespace: disease_ontology
has_exact_synonym: pulmonary siderosis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:62371005
annotated target: pulmonary siderosis (disorder)
annotated source: siderosis
annotated property: has_exact_synonym

pneumoconiosis due to talc
type: Class
subclass of: pneumoconiosis
id: DOID:10329
database_cross_reference: ICD10CM:J62.0
database_cross_reference: NCI:C27026
has_exact_synonym: Pneumoconiosis due to talc (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:73144008
has_exact_synonym: Talc Pneumoconiosis
database_cross_reference: UMLS_CUI:C0238377
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C27026
annotated target: Talc Pneumoconiosis
annotated source: pneumoconiosis due to talc
annotated property: has_exact_synonym

Axiom
annotated target: Pneumoconiosis due to talc (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:73144008
annotated source: pneumoconiosis due to talc
annotated property: has_exact_synonym

slate pneumoconiosis
type: Class
subclass of: pneumoconiosis
id: DOID:10330
database_cross_reference: NCI:C35397
database_cross_reference: SNOMEDCT_US_2015_03_01:1259003
has_exact_synonym: Schistosis (disorder)
database_cross_reference: UMLS_CUI:C0340186
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:1259003
annotated target: Schistosis (disorder)
annotated source: slate pneumoconiosis
annotated property: has_exact_synonym

kaolin pneumoconiosis
type: Class
subclass of: pneumoconiosis
id: DOID:10331
has_exact_synonym: Kaolinosis (disorder)
database_cross_reference: NCI:C35315
database_cross_reference: SNOMEDCT_US_2015_03_01:36696005
database_cross_reference: UMLS_CUI:C0264435
has_obo_namespace: disease_ontology

Axiom
annotated target: Kaolinosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:36696005
annotated source: kaolin pneumoconiosis
annotated property: has_exact_synonym

disorder of optic chiasm due to vascular disorder
type: Class
id: DOID:10332
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of optic chiasm associated with vascular disorder
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:377.53
annotated target: disorder of optic chiasm associated with vascular disorder
annotated source: disorder of optic chiasm due to vascular disorder
annotated property: has_exact_synonym

craniofacial abnormality
type: Class
has_exact_synonym: Congenital abnormality of skull and face bones (disorder)
has_exact_synonym: Congenital anomalies of skull and face bones
id: DOID:10334
has_alternative_id: DOID:1295
has_exact_synonym: Skull and face &/or face bone anomalies
has_exact_synonym: Skull or face bone anomaly NOS
has_exact_synonym: Skull or face bone anomaly NOS (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:268269002
annotated target: Skull or face bone anomaly NOS (disorder)
annotated source: craniofacial abnormality
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:205423005
annotated target: Skull or face bone anomaly NOS
annotated source: craniofacial abnormality
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:205409008
annotated target: Skull and face &/or face bone anomalies
annotated source: craniofacial abnormality
annotated property: has_exact_synonym

Axiom
annotated target: Congenital anomalies of skull and face bones
database_cross_reference: ICD9CM_2006:756.0
annotated source: craniofacial abnormality
annotated property: has_exact_synonym

Axiom
annotated target: Congenital abnormality of skull and face bones (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:268239009
annotated source: craniofacial abnormality
annotated property: has_exact_synonym

glaucomatous atrophy of optic disc
type: Class
subclass of: DOID 1686
subclass of: DOID 5723
id: DOID:10337
has_exact_synonym: Glaucomatous atrophy [cupping] of optic disc
has_exact_synonym: Glaucomatous atrophy of optic disc (disorder)
has_exact_synonym: Glaucomatous cupping of optic disc
database_cross_reference: ICD10CM:H47.23
database_cross_reference: ICD9CM:377.14
database_cross_reference: SNOMEDCT_US_2015_03_01:1207009
database_cross_reference: UMLS_CUI:C0271342
has_obo_namespace: disease_ontology

Axiom
annotated target: Glaucomatous atrophy of optic disc (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:1207009
annotated source: glaucomatous atrophy of optic disc
annotated property: has_exact_synonym

Axiom
annotated target: Glaucomatous atrophy [cupping] of optic disc
database_cross_reference: ICD9CM_2006:377.14
annotated source: glaucomatous atrophy of optic disc
annotated property: has_exact_synonym

Axiom
annotated target: Glaucomatous cupping of optic disc
database_cross_reference: MTHICD9_2006:377.14
annotated source: glaucomatous atrophy of optic disc
annotated property: has_exact_synonym

subchronic schizophrenia
type: Class
id: DOID:10338
has_exact_synonym: Unspecified schizophrenia, subchronic state
has_obo_namespace: disease_ontology
has_exact_synonym: subchronic Schizophrenia
has_exact_synonym: subchronic schizophrenia (disorder)
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:295.91
annotated target: Unspecified schizophrenia, subchronic state
annotated source: subchronic schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C35185
annotated target: subchronic Schizophrenia
annotated source: subchronic schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:16990005
annotated target: subchronic schizophrenia (disorder)
annotated source: subchronic schizophrenia
annotated property: has_exact_synonym

schizophrenia simplex
type: Class
id: DOID:10339
has_obo_namespace: disease_ontology
has_exact_synonym: simple schizophrenia
has_exact_synonym: simple schizophrenia (disorder)
has_exact_synonym: simple schizophrenia NOS (disorder)
has_exact_synonym: simple type Schizophrenia
has_exact_synonym: simple type schizophrenia
has_exact_synonym: simple type schizophrenia, unspecified state
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191527001
annotated target: simple schizophrenia (disorder)
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:295.0
annotated target: simple type schizophrenia
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2485-0932
annotated target: simple schizophrenia
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:295.00
annotated target: simple type schizophrenia, unspecified state
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:192325006
annotated target: simple schizophrenia
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154866008
annotated target: simple schizophrenia
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C35269
annotated target: simple type Schizophrenia
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191534004
annotated target: simple schizophrenia NOS (disorder)
annotated source: schizophrenia simplex
annotated property: has_exact_synonym

residual subchronic schizophrenia
type: Class
id: DOID:10340
has_exact_synonym: Residual schizophrenia, subchronic state
has_obo_namespace: disease_ontology
has_exact_synonym: subchronic residual schizophrenia (disorder)
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:295.61
annotated target: Residual schizophrenia, subchronic state
annotated source: residual subchronic schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:76566000
annotated target: subchronic residual schizophrenia (disorder)
annotated source: residual subchronic schizophrenia
annotated property: has_exact_synonym

chronic meningitis
type: Class
subclass of: DOID 9471
id: DOID:10341
database_cross_reference: ICD10CM:G03.1
database_cross_reference: ICD9CM:322.2
database_cross_reference: SNOMEDCT_US_2015_03_01:21664006
database_cross_reference: UMLS_CUI:C0154653
has_exact_synonym: chronic meningitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:21664006
annotated target: chronic meningitis (disorder)
annotated source: chronic meningitis
annotated property: has_exact_synonym

subchronic latent schizophrenia
type: Class
id: DOID:10342
has_exact_synonym: Latent schizophrenia, subchronic state
has_exact_synonym: Latent subchronic Schizophrenia
has_obo_namespace: disease_ontology
has_exact_synonym: subchronic latent schizophrenia (disorder)
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:295.51
annotated target: Latent schizophrenia, subchronic state
annotated source: subchronic latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent subchronic Schizophrenia
database_cross_reference: NCI2004_11_17:C35181
annotated source: subchronic latent schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191561004
annotated target: subchronic latent schizophrenia (disorder)
annotated source: subchronic latent schizophrenia
annotated property: has_exact_synonym

latent schizophrenia
type: Class
id: DOID:10343
has_exact_synonym: Latent Schizophrenia
has_exact_synonym: Latent schizophrenia
has_exact_synonym: Latent schizophrenia (disorder)
has_exact_synonym: Latent schizophrenia NOS (disorder)
has_exact_synonym: Latent schizophrenia, unspecified state
has_exact_synonym: Latent schizophrenic reaction
has_exact_synonym: Unspecified latent schizophrenia (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:295.50
annotated target: Latent schizophrenia, unspecified state
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent Schizophrenia
database_cross_reference: NCI2004_11_17:C34759
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:295.5
annotated target: Latent schizophrenia
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent schizophrenic reaction
database_cross_reference: MTHICD9_2006:295.5
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191560003
annotated target: Unspecified latent schizophrenia (disorder)
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent schizophrenia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:191559008
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent schizophrenia
database_cross_reference: SNOMEDCT_2005_07_31:192328008
annotated source: latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent schizophrenia NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:191566009
annotated source: latent schizophrenia
annotated property: has_exact_synonym

blepharophimosis
type: Class
subclass of: DOID 530
id: DOID:10348
database_cross_reference: ICD10CM:H02.52
database_cross_reference: ICD9CM:374.46
database_cross_reference: MSH:D016569
database_cross_reference: UMLS_CUI:C0005744
has_obo_namespace: disease_ontology

solitary cyst of breast
type: Class
subclass of: breast cyst
id: DOID:10349
database_cross_reference: ICD10CM:N60.0
database_cross_reference: ICD10CM:N60.09
database_cross_reference: ICD9CM:610.0
database_cross_reference: NCI:C3378
database_cross_reference: SNOMEDCT_US_2015_03_01:198090005
database_cross_reference: SNOMEDCT_US_2015_03_01:266578003
database_cross_reference: SNOMEDCT_US_2015_03_01:270538000
has_exact_synonym: Solitary Cyst of the breast
has_exact_synonym: Solitary cyst of breast
has_exact_synonym: Solitary cyst of breast (disorder)
database_cross_reference: UMLS_CUI:C0037619
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:610.0
annotated target: Solitary cyst of breast
annotated source: solitary cyst of breast
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266578003
annotated target: Solitary cyst of breast (disorder)
annotated source: solitary cyst of breast
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:270538000
annotated target: Solitary cyst of breast
annotated source: solitary cyst of breast
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3378
annotated target: Solitary Cyst of the breast
annotated source: solitary cyst of breast
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198090005
annotated target: Solitary cyst of breast
annotated source: solitary cyst of breast
annotated property: has_exact_synonym

natural killer cell leukemia
type: Class
subclass of: lymphoblastic leukemia
subclass of: DOID 9500
has_exact_synonym: Aggressive NK-cell leukemia (morphologic abnormality)
id: DOID:1035
database_cross_reference: ICD10CM:C94.8
database_cross_reference: NCI:C8647
database_cross_reference: SNOMEDCT_US_2015_03_01:128833001
database_cross_reference: UMLS_CUI:C1292777
has_obo_namespace: disease_ontology
has_exact_synonym: large granular Lymphocyte Leukemia, NK-cell type

Axiom
database_cross_reference: NCI2004_11_17:C8647
annotated target: large granular Lymphocyte Leukemia, NK-cell type
annotated source: natural killer cell leukemia
annotated property: has_exact_synonym

Axiom
annotated target: Aggressive NK-cell leukemia (morphologic abnormality)
database_cross_reference: SNOMEDCT_2005_07_31:128833001
annotated source: natural killer cell leukemia
annotated property: has_exact_synonym

breast cyst
type: Class
subclass of: breast benign neoplasm
has_exact_synonym: Cyst of breast
has_exact_synonym: Cyst of breast (disorder)
has_exact_synonym: Cyst of the breast
id: DOID:10350
database_cross_reference: ICD10CM:N60.0
database_cross_reference: MSH:D047688
database_cross_reference: NCI:C5315
database_cross_reference: SNOMEDCT_US_2015_03_01:270538000
database_cross_reference: SNOMEDCT_US_2015_03_01:399294002
database_cross_reference: SNOMEDCT_US_2015_03_01:56726003
database_cross_reference: UMLS_CUI:C0006144
has_obo_namespace: disease_ontology

Axiom
annotated target: Cyst of breast
database_cross_reference: MTHICD9_2006:610.0
annotated source: breast cyst
annotated property: has_exact_synonym

Axiom
annotated target: Cyst of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:399294002
annotated source: breast cyst
annotated property: has_exact_synonym

Axiom
annotated target: Cyst of breast
database_cross_reference: SNOMEDCT_2005_07_31:270538000
annotated source: breast cyst
annotated property: has_exact_synonym

Axiom
annotated target: Cyst of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:56726003
annotated source: breast cyst
annotated property: has_exact_synonym

Axiom
annotated target: Cyst of the breast
database_cross_reference: NCI2004_11_17:C5315
annotated source: breast cyst
annotated property: has_exact_synonym

mammary duct ectasia
type: Class
has_exact_synonym: Comedomastitis
id: DOID:10351
has_exact_synonym: Mammary duct ectasia (disorder)
has_exact_synonym: Mammary duct ectasia [Ambiguous]
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Comedomastitis
database_cross_reference: MTHICD9_2006:610.4
annotated source: mammary duct ectasia
annotated property: has_exact_synonym

Axiom
annotated target: Mammary duct ectasia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:22049009
annotated source: mammary duct ectasia
annotated property: has_exact_synonym

Axiom
annotated target: Comedomastitis
database_cross_reference: NCI2004_11_17:C3522
annotated source: mammary duct ectasia
annotated property: has_exact_synonym

Axiom
annotated target: Mammary duct ectasia [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:198093007
annotated source: mammary duct ectasia
annotated property: has_exact_synonym

breast fibroadenosis
type: Class
subclass of: breast benign neoplasm
id: DOID:10352
has_exact_synonym: Fibroadenosis - breast
has_exact_synonym: Fibroadenosis of breast
has_exact_synonym: Fibroadenosis of breast (disorder)
has_exact_synonym: Fibroadenosis of breast NOS (disorder)
database_cross_reference: ICD10CM:N60.2
database_cross_reference: ICD9CM:610.2
database_cross_reference: SNOMEDCT_US_2015_03_01:198092002
database_cross_reference: SNOMEDCT_US_2015_03_01:23260002
database_cross_reference: SNOMEDCT_US_2015_03_01:270893004
database_cross_reference: UMLS_CUI:C1305875
has_obo_namespace: disease_ontology

Axiom
annotated target: Fibroadenosis of breast NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:198092002
annotated source: breast fibroadenosis
annotated property: has_exact_synonym

Axiom
annotated target: Fibroadenosis of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:23260002
annotated source: breast fibroadenosis
annotated property: has_exact_synonym

Axiom
annotated target: Fibroadenosis of breast
database_cross_reference: ICD9CM_2006:610.2
annotated source: breast fibroadenosis
annotated property: has_exact_synonym

Axiom
annotated target: Fibroadenosis - breast
database_cross_reference: SNOMEDCT_2005_07_31:270893004
annotated source: breast fibroadenosis
annotated property: has_exact_synonym

fibrosclerosis of breast
type: Class
subclass of: DOID 5997
id: DOID:10353
has_exact_synonym: Fibrosclerosis of breast
has_exact_synonym: Fibrosclerosis of breast (disorder)
has_exact_synonym: Fibrosis of the breast
database_cross_reference: ICD10CM:N60.3
database_cross_reference: ICD9CM:610.3
database_cross_reference: NCI:C3660
database_cross_reference: SNOMEDCT_US_2015_03_01:29070004
database_cross_reference: UMLS_CUI:C0156318
has_obo_namespace: disease_ontology

Axiom
annotated target: Fibrosis of the breast
database_cross_reference: NCI2004_11_17:C3660
annotated source: fibrosclerosis of breast
annotated property: has_exact_synonym

Axiom
annotated target: Fibrosclerosis of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:29070004
annotated source: fibrosclerosis of breast
annotated property: has_exact_synonym

Axiom
annotated target: Fibrosclerosis of breast
database_cross_reference: ICD9CM_2006:610.3
annotated source: fibrosclerosis of breast
annotated property: has_exact_synonym

breast fibrocystic disease
type: Class
subclass of: breast benign neoplasm
id: DOID:10354
has_exact_synonym: Diffuse cystic mastopathy
has_exact_synonym: FIBROcystic DISEASE OF breast
has_exact_synonym: Fibrocystic disease of breast
has_exact_synonym: Fibrocystic disease of breast (disorder)
database_cross_reference: ICD10CM:N60
database_cross_reference: ICD10CM:N60.1
database_cross_reference: ICD9CM:610.1
database_cross_reference: MSH:D005348
database_cross_reference: NCI:C3039
database_cross_reference: SNOMEDCT_US_2015_03_01:198091009
database_cross_reference: SNOMEDCT_US_2015_03_01:237436008
database_cross_reference: SNOMEDCT_US_2015_03_01:27431007
database_cross_reference: UMLS_CUI:C0016034
has_exact_synonym: breast Fibrocystic Change
has_obo_namespace: disease_ontology

Axiom
annotated target: FIBROcystic DISEASE OF breast
database_cross_reference: MTH:302
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
annotated target: Diffuse cystic mastopathy
database_cross_reference: SNOMEDCT_2005_07_31:237436008
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
annotated target: Fibrocystic disease of breast
database_cross_reference: SNOMEDCT_2005_07_31:198091009
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
annotated target: Fibrocystic disease of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:27431007
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3039
annotated target: breast Fibrocystic Change
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
annotated target: Fibrocystic disease of breast
database_cross_reference: MTH:119
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
annotated target: Diffuse cystic mastopathy
database_cross_reference: ICD9CM_2006:610.1
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

Axiom
annotated target: Fibrocystic disease of breast
database_cross_reference: MTHICD9_2006:610.1
annotated source: breast fibrocystic disease
annotated property: has_exact_synonym

chronic leukemia
type: Class
subclass of: DOID 1240
definition: A leukemia that develops slowly.
has_related_synonym: CLL
has_related_synonym: CML
id: DOID:1036
has_related_synonym: adult chronic leukemia
has_obo_namespace: disease_ontology

Axiom
annotated target: A leukemia that develops slowly.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html
annotated source: chronic leukemia
annotated property: definition

eosinophilic meningitis
type: Class
subclass of: chronic meningitis
id: DOID:10361
has_exact_synonym: Eosinophilic meningitis (disorder)
database_cross_reference: ICD9CM:322.1
database_cross_reference: SNOMEDCT_US_2015_03_01:25671008
database_cross_reference: UMLS_CUI:C0154652
has_obo_namespace: disease_ontology

Axiom
annotated target: Eosinophilic meningitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:25671008
annotated source: eosinophilic meningitis
annotated property: has_exact_synonym

epididymis cancer
type: Class
subclass of: DOID 3856
id: DOID:10366
database_cross_reference: ICD10CM:C63.0
database_cross_reference: ICD9CM:187.5
database_cross_reference: NCI:C3558
database_cross_reference: SNOMEDCT_US_2015_03_01:363452003
database_cross_reference: SNOMEDCT_US_2015_03_01:93783009
database_cross_reference: UMLS_CUI:C0153602
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Epididymal tumor
has_exact_synonym: malignant neoplasm of epididymis
has_exact_synonym: malignant tumor of epididymis (disorder)

Axiom
database_cross_reference: ICD9CM_2006:187.5
annotated target: malignant neoplasm of epididymis
annotated source: epididymis cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93783009
annotated target: malignant neoplasm of epididymis
annotated source: epididymis cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:363452003
annotated target: malignant tumor of epididymis (disorder)
annotated source: epididymis cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3558
annotated target: malignant Epididymal tumor
annotated source: epididymis cancer
annotated property: has_exact_synonym

metastatic tumor to the epididymis
type: Class
id: DOID:10367
has_obo_namespace: disease_ontology
has_exact_synonym: metastatic neoplasm to the Epididymis
has_exact_synonym: secondary malignant neoplasm of epididymis (disorder)
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C8544
annotated target: metastatic neoplasm to the Epididymis
annotated source: metastatic tumor to the epididymis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:94283001
annotated target: secondary malignant neoplasm of epididymis (disorder)
annotated source: metastatic tumor to the epididymis
annotated property: has_exact_synonym

epididymis adenocarcinoma
type: Class
subclass of: epididymis cancer
subclass of: DOID 299
definition: An epididymis cancer that derives_from epithelial cells of glandular origin.
id: DOID:10368
database_cross_reference: NCI:C39957
database_cross_reference: UMLS_CUI:C1510784
has_related_synonym: adenocarcinoma of the epididymis
has_obo_namespace: disease_ontology

Axiom
annotated target: An epididymis cancer that derives_from epithelial cells of glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma
annotated source: epididymis adenocarcinoma
annotated property: definition

lymphoblastic leukemia
type: Class
subclass of: DOID 1240
definition: A leukemia that has_material_basis_in lymphoblasts (immature white blood cells).
id: DOID:1037
database_cross_reference: ICD10CM:C91
database_cross_reference: ICD10CM:C91.9
database_cross_reference: ICD10CM:C91.90
database_cross_reference: ICD9CM:204
database_cross_reference: ICD9CM:204.9
database_cross_reference: MSH:D007945
database_cross_reference: NCI:C7539
database_cross_reference: SNOMEDCT_US_2015_03_01:154587007
database_cross_reference: SNOMEDCT_US_2015_03_01:188725004
database_cross_reference: SNOMEDCT_US_2015_03_01:188731001
database_cross_reference: SNOMEDCT_US_2015_03_01:190033006
database_cross_reference: SNOMEDCT_US_2015_03_01:269631008
database_cross_reference: SNOMEDCT_US_2015_03_01:32280000
database_cross_reference: SNOMEDCT_US_2015_03_01:93170002
database_cross_reference: UMLS_CUI:C0023448
has_obo_namespace: disease_ontology
in_subset: DO cancer slim

Axiom
annotated target: A leukemia that has_material_basis_in lymphoblasts (immature white blood cells).
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=616067
annotated source: lymphoblastic leukemia
annotated property: definition

yaws
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions.
has_exact_synonym: Bouba
id: DOID:10371
database_cross_reference: ICD10CM:A66
database_cross_reference: ICD10CM:A66.9
database_cross_reference: ICD9CM:102
database_cross_reference: ICD9CM:102.9
database_cross_reference: MSH:D015001
database_cross_reference: NCI:C41353
database_cross_reference: SNOMEDCT_US_2015_03_01:154391003
database_cross_reference: SNOMEDCT_US_2015_03_01:186974004
database_cross_reference: SNOMEDCT_US_2015_03_01:187372000
database_cross_reference: SNOMEDCT_US_2015_03_01:266213004
database_cross_reference: SNOMEDCT_US_2015_03_01:70647001
database_cross_reference: UMLS_CUI:C0043388
has_obo_namespace: disease_ontology
has_exact_synonym: frambesia
has_exact_synonym: frambesia tropica
has_exact_synonym: frambosie
has_exact_synonym: polypapilloma tropicum
has_exact_synonym: thymosis
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Yaws
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs316/en/
annotated source: yaws
annotated property: definition

suppression amblyopia
type: Class
subclass of: amblyopia
id: DOID:10375
database_cross_reference: ICD10CM:H53.03
database_cross_reference: ICD9CM:368.01
database_cross_reference: MSH:D000550
database_cross_reference: SNOMEDCT_US_2015_03_01:35600002
has_exact_synonym: Strabismic amblyopia
has_exact_synonym: Strabismic amblyopia (disorder)
has_exact_synonym: Suppression amblyopia
database_cross_reference: UMLS_CUI:C0750903
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:35600002
annotated target: Strabismic amblyopia (disorder)
annotated source: suppression amblyopia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:368.01
annotated target: Strabismic amblyopia
annotated source: suppression amblyopia
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:368.01
annotated target: Suppression amblyopia
annotated source: suppression amblyopia
annotated property: has_exact_synonym

amblyopia
type: Class
subclass of: DOID 5614
database_cross_reference: CSP:1114-9655
id: DOID:10376
database_cross_reference: ICD10CM:H53.00
database_cross_reference: ICD9CM:368.00
database_cross_reference: MSH:D000550
database_cross_reference: SNOMEDCT_US_2015_03_01:111517004
database_cross_reference: SNOMEDCT_US_2015_03_01:155145007
database_cross_reference: SNOMEDCT_US_2015_03_01:193637007
database_cross_reference: SNOMEDCT_US_2015_03_01:267627009
database_cross_reference: SNOMEDCT_US_2015_03_01:267726008
database_cross_reference: SNOMEDCT_US_2015_03_01:387742006
database_cross_reference: UMLS_CUI:C0002418
has_obo_namespace: disease_ontology

ametropic amblyopia
type: Class
subclass of: amblyopia
id: DOID:10377
database_cross_reference: ICD10CM:H53.02
database_cross_reference: ICD9CM:368.03
has_exact_synonym: Refractive amblyopia
has_exact_synonym: Refractive amblyopia (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:90927000
database_cross_reference: UMLS_CUI:C0152190
has_obo_namespace: disease_ontology

Axiom
annotated target: Refractive amblyopia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:90927000
annotated source: ametropic amblyopia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:368.03
annotated target: Refractive amblyopia
annotated source: ametropic amblyopia
annotated property: has_exact_synonym

disuse amblyopia
type: Class
subclass of: amblyopia
id: DOID:10378
has_exact_synonym: Deprivation amblyopia
has_exact_synonym: Deprivation amblyopia (disorder) [Ambiguous]
database_cross_reference: ICD10CM:H53.01
database_cross_reference: ICD9CM:368.02
database_cross_reference: SNOMEDCT_US_2015_03_01:193638002
database_cross_reference: SNOMEDCT_US_2015_03_01:21457000
database_cross_reference: UMLS_CUI:C0152189
has_obo_namespace: disease_ontology

Axiom
annotated target: Deprivation amblyopia
database_cross_reference: ICD9CM_2006:368.02
annotated source: disuse amblyopia
annotated property: has_exact_synonym

Axiom
annotated target: Deprivation amblyopia (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:21457000
annotated source: disuse amblyopia
annotated property: has_exact_synonym

mature T-cell neoplasm
type: Class
id: DOID:1038
has_obo_namespace: disease_ontology
deprecated: true

precipitate labor
type: Class
has_alternative_id: DOID:10379
id: DOID:10380
has_alternative_id: DOID:14438
has_exact_synonym: Precipitate labor, antepartum
has_exact_synonym: Precipitate labor, with delivery
has_obo_namespace: disease_ontology
deprecated: true

staphylococcal meningitis
type: Class
id: DOID:10381
has_exact_synonym: Staphylococcal meningitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:12166008
annotated target: Staphylococcal meningitis (disorder)
annotated source: staphylococcal meningitis
annotated property: has_exact_synonym

amyotrophic neuralgia
type: Class
subclass of: DOID 3690
id: DOID:10383
database_cross_reference: ICD10CM:G54.5
database_cross_reference: ICD9CM:353.5
database_cross_reference: MSH:D020968
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:162100
database_cross_reference: SNOMEDCT_US_2015_03_01:193113006
database_cross_reference: SNOMEDCT_US_2015_03_01:26609002
database_cross_reference: SNOMEDCT_US_2015_03_01:3548001
database_cross_reference: UMLS_CUI:C1510479
has_obo_namespace: disease_ontology
has_exact_synonym: neuralgic amyotrophy
has_exact_synonym: neuralgic amyotrophy (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193113006
annotated target: neuralgic amyotrophy
annotated source: amyotrophic neuralgia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:26609002
annotated target: neuralgic amyotrophy (disorder)
annotated source: amyotrophic neuralgia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:3548001
annotated target: neuralgic amyotrophy
annotated source: amyotrophic neuralgia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:353.5
annotated target: neuralgic amyotrophy
annotated source: amyotrophic neuralgia
annotated property: has_exact_synonym

papilledema associated with decreased ocular pressure
type: Class
id: DOID:10384
has_exact_synonym: Papilledema associated with decreased ocular pressure (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Papilledema associated with decreased ocular pressure (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:79155000
annotated source: papilledema associated with decreased ocular pressure
annotated property: has_exact_synonym

prolymphocytic leukemia
type: Class
subclass of: chronic lymphocytic leukemia
id: DOID:1039
database_cross_reference: MSH:D015463
database_cross_reference: NCI:C3181
database_cross_reference: SNOMEDCT_US_2015_03_01:10300002
database_cross_reference: SNOMEDCT_US_2015_03_01:110006004
database_cross_reference: SNOMEDCT_US_2015_03_01:128923008
database_cross_reference: UMLS_CUI:C0023486
has_obo_namespace: disease_ontology

secondary hypertrophic osteoarthropathy
type: Class
subclass of: DOID 381
has_exact_synonym: Bamberger-Marie disease
id: DOID:10393
has_exact_synonym: HPOA - hypertrophic pulmonary osteoarthropathy
database_cross_reference: ICD10CM:M89.4
database_cross_reference: ICD9CM:731.2
database_cross_reference: MSH:D010005
has_exact_synonym: Marie Bamberger disease
database_cross_reference: SNOMEDCT_US_2015_03_01:203357004
database_cross_reference: SNOMEDCT_US_2015_03_01:222712005
database_cross_reference: SNOMEDCT_US_2015_03_01:46922002
database_cross_reference: UMLS_CUI:C0029412
has_obo_namespace: disease_ontology
has_exact_synonym: hypertrophic pulmonary osteoarthropathy
has_exact_synonym: hypertrophic pulmonary osteoarthropathy (disorder)
has_exact_synonym: hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:46922002
annotated target: hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]
annotated source: secondary hypertrophic osteoarthropathy
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:222712005
annotated target: hypertrophic pulmonary osteoarthropathy (disorder)
annotated source: secondary hypertrophic osteoarthropathy
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:731.2
annotated target: hypertrophic pulmonary osteoarthropathy
annotated source: secondary hypertrophic osteoarthropathy
annotated property: has_exact_synonym

Axiom
annotated target: Bamberger-Marie disease
database_cross_reference: MTHICD9_2006:731.2
annotated source: secondary hypertrophic osteoarthropathy
annotated property: has_exact_synonym

Axiom
annotated target: HPOA - hypertrophic pulmonary osteoarthropathy
database_cross_reference: SNOMEDCT_2005_07_31:203357004
annotated source: secondary hypertrophic osteoarthropathy
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2715-1220
annotated target: Marie Bamberger disease
annotated source: secondary hypertrophic osteoarthropathy
annotated property: has_exact_synonym

pneumonic plague
type: Class
subclass of: DOID 3482
definition: A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
id: DOID:10398
has_alternative_id: DOID:10401
has_alternative_id: DOID:10402
database_cross_reference: ICD10CM:A20.2
database_cross_reference: ICD9CM:020.3
database_cross_reference: ICD9CM:020.4
database_cross_reference: ICD9CM:020.5
database_cross_reference: MSH:D010930
database_cross_reference: SNOMEDCT_US_2015_03_01:186283004
database_cross_reference: SNOMEDCT_US_2015_03_01:35339003
database_cross_reference: SNOMEDCT_US_2015_03_01:38976008
database_cross_reference: SNOMEDCT_US_2015_03_01:67525007
database_cross_reference: UMLS_CUI:C0152937
database_cross_reference: UMLS_CUI:C0152938
database_cross_reference: UMLS_CUI:C0524688
has_obo_namespace: disease_ontology
has_exact_synonym: primary pneumonic plague
has_exact_synonym: secondary pneumonic plague
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
database_cross_reference: url:http://emedicine.medscape.com/article/829233-overview#a0104
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area
annotated source: pneumonic plague
annotated property: definition

seminal vesicle chronic gonorrhea
type: Class
subclass of: gonococcal seminal vesiculitis
id: DOID:10399
has_exact_synonym: Gonococcal seminal vesiculitis, chronic
database_cross_reference: ICD9CM:098.34
database_cross_reference: SNOMEDCT_US_2015_03_01:23975003
database_cross_reference: UMLS_CUI:C0153205
has_exact_synonym: chronic gonococcal seminal vesiculitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:23975003
annotated target: chronic gonococcal seminal vesiculitis (disorder)
annotated source: seminal vesicle chronic gonorrhea
annotated property: has_exact_synonym

Axiom
annotated target: Gonococcal seminal vesiculitis, chronic
database_cross_reference: ICD9CM_2006:098.34
annotated source: seminal vesicle chronic gonorrhea
annotated property: has_exact_synonym

bacterial infectious disease
type: Class
subclass of: disease by infectious agent
definition: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
id: DOID:104
database_cross_reference: ICD10CM:A49
database_cross_reference: ICD10CM:A49.9
database_cross_reference: MSH:D001424
database_cross_reference: NCI:C2890
database_cross_reference: SNOMEDCT_US_2015_03_01:154318005
database_cross_reference: SNOMEDCT_US_2015_03_01:186470002
database_cross_reference: SNOMEDCT_US_2015_03_01:187347000
database_cross_reference: SNOMEDCT_US_2015_03_01:266182006
database_cross_reference: SNOMEDCT_US_2015_03_01:266187000
database_cross_reference: SNOMEDCT_US_2015_03_01:301811001
database_cross_reference: SNOMEDCT_US_2015_03_01:87628006
database_cross_reference: UMLS_CUI:C0004623
has_obo_namespace: disease_ontology

Axiom
annotated target: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pathogenic_bacteria
annotated source: bacterial infectious disease
annotated property: definition

chronic lymphocytic leukemia
type: Class
subclass of: lymphoblastic leukemia
subclass of: DOID 9500
definition: A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
has_exact_synonym: B-cell chronic lymphocytic leukemia
has_related_synonym: B-cell chronic lymphoid leukemia
has_exact_synonym: CLL
id: DOID:1040
database_cross_reference: EFO:0000095
database_cross_reference: ICD10CM:C91.1
database_cross_reference: ICD10CM:C91.10
database_cross_reference: ICD9CM:204.1
database_cross_reference: MSH:D015451
database_cross_reference: NCI:C3162
database_cross_reference: NCI:C3163
database_cross_reference: OMIM:109543
database_cross_reference: OMIM:151400
database_cross_reference: OMIM:609630
database_cross_reference: OMIM:612557
database_cross_reference: OMIM:612558
database_cross_reference: OMIM:612559
database_cross_reference: ORDO:67038
database_cross_reference: SNOMEDCT_US_2015_03_01:154589005
database_cross_reference: SNOMEDCT_US_2015_03_01:277473004
database_cross_reference: SNOMEDCT_US_2015_03_01:51092000
database_cross_reference: SNOMEDCT_US_2015_03_01:92814006
database_cross_reference: UMLS_CUI:C0023434
comment: Xref MGI.
has_exact_synonym: chronic lymphatic leukemia
has_obo_namespace: disease_ontology
has_exact_synonym: lymphoplasmacytic leukemia
in_subset: DO MGI slim

Axiom
annotated target: A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
database_cross_reference: url:http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia
database_cross_reference: url:http://www.cancer.gov/dictionary?cdrid=346545
annotated source: chronic lymphocytic leukemia
annotated property: definition

gonococcal seminal vesiculitis
type: Class
subclass of: DOID 7551
subclass of: DOID 9365
id: DOID:10400
has_exact_synonym: Gonococcal seminal vesiculitis (acute)
has_exact_synonym: Gonococcal seminal vesiculitis (disorder)
has_exact_synonym: Gonorrhea of seminal vesicle
database_cross_reference: SNOMEDCT_US_2015_03_01:301990003
database_cross_reference: UMLS_CUI:C0578661
has_obo_namespace: disease_ontology

Axiom
annotated target: Gonorrhea of seminal vesicle
database_cross_reference: MTHICD9_2006:098.14
annotated source: gonococcal seminal vesiculitis
annotated property: has_exact_synonym

Axiom
annotated target: Gonococcal seminal vesiculitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:301990003
annotated source: gonococcal seminal vesiculitis
annotated property: has_exact_synonym

Axiom
annotated target: Gonococcal seminal vesiculitis (acute)
database_cross_reference: ICD9CM_2006:098.14
annotated source: gonococcal seminal vesiculitis
annotated property: has_exact_synonym

Generalized infection during labor
type: Class
has_alternative_id: DOID:10262
has_alternative_id: DOID:1041
id: DOID:1042
has_exact_synonym: Generalized infection during labor, delivered
has_exact_synonym: antepartum generalized infection during labor
has_obo_namespace: disease_ontology
deprecated: true

acute pericementitis
type: Class
subclass of: DOID 824
id: DOID:10423
database_cross_reference: ICD9CM:523.3
database_cross_reference: ICD9CM:523.33
database_cross_reference: NCI:C34354
database_cross_reference: SNOMEDCT_US_2015_03_01:155646007
database_cross_reference: SNOMEDCT_US_2015_03_01:196361004
database_cross_reference: SNOMEDCT_US_2015_03_01:196362006
database_cross_reference: SNOMEDCT_US_2015_03_01:196364007
database_cross_reference: SNOMEDCT_US_2015_03_01:21638000
database_cross_reference: UMLS_CUI:C0001342
has_exact_synonym: acute Periodontitis
has_exact_synonym: acute pericementitis (disorder)
has_exact_synonym: acute periodontitis
has_exact_synonym: acute periodontitis (disorder)
has_exact_synonym: acute periodontitis NOS (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196364007
annotated target: acute periodontitis NOS (disorder)
annotated source: acute pericementitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196361004
annotated target: acute periodontitis
annotated source: acute pericementitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:21638000
annotated target: acute periodontitis (disorder)
annotated source: acute pericementitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155646007
annotated target: acute periodontitis
annotated source: acute pericementitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:523.3
annotated target: acute periodontitis
annotated source: acute pericementitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C34354
annotated target: acute Periodontitis
annotated source: acute pericementitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196362006
annotated target: acute pericementitis (disorder)
annotated source: acute pericementitis
annotated property: has_exact_synonym

Klippel-Feil syndrome
type: Class
subclass of: physical disorder
definition: A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra.
id: DOID:10426
has_alternative_id: DOID:14747
database_cross_reference: ICD10CM:Q76.1
database_cross_reference: ICD9CM:756.16
has_exact_synonym: Klippel-Feil and Turner syndrome
has_exact_synonym: Klippel-Feil deformity, deafness and facial asymmetry
database_cross_reference: MSH:D007714
database_cross_reference: NCI:C98967
database_cross_reference: OMIM:118100
database_cross_reference: OMIM:214300
database_cross_reference: OMIM:600156
database_cross_reference: OMIM:606874
database_cross_reference: OMIM:606875
database_cross_reference: OMIM:608462
database_cross_reference: OMIM:611644
database_cross_reference: OMIM:613702
database_cross_reference: ORDO:2345
database_cross_reference: SNOMEDCT_US_2015_03_01:129581007
database_cross_reference: SNOMEDCT_US_2015_03_01:157003009
database_cross_reference: SNOMEDCT_US_2015_03_01:205441002
database_cross_reference: SNOMEDCT_US_2015_03_01:268349005
database_cross_reference: SNOMEDCT_US_2015_03_01:388981000
database_cross_reference: SNOMEDCT_US_2015_03_01:5601008
database_cross_reference: UMLS_CUI:C0022738
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: autosomal dominant Klippel-Feil syndrome
has_exact_synonym: congenital dystrophia brevicollis
has_exact_synonym: congenital synostosis of cervical vertebrae
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra.
database_cross_reference: url:http://emedicine.medscape.com/article/1264848-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome
database_cross_reference: url:http://www.healthline.com/galecontent/klippel-feil-syndrome
database_cross_reference: url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm
database_cross_reference: url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome
annotated source: Klippel-Feil syndrome
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:388981000
annotated target: congenital dystrophia brevicollis
annotated source: Klippel-Feil syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Klippel-Feil and Turner syndrome
database_cross_reference: SNOMEDCT_2005_07_31:129581007
annotated source: Klippel-Feil syndrome
annotated property: has_exact_synonym

stable condition keratoconus
type: Class
subclass of: keratoconus
id: DOID:10428
database_cross_reference: ICD10CM:H18.61
database_cross_reference: ICD9CM:371.61
has_exact_synonym: Keratoconus, stable condition (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:193844000
database_cross_reference: SNOMEDCT_US_2015_03_01:75253008
has_exact_synonym: Stable condition keratoconus (disorder)
database_cross_reference: UMLS_CUI:C0155131
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:75253008
annotated target: Stable condition keratoconus (disorder)
annotated source: stable condition keratoconus
annotated property: has_exact_synonym

Axiom
annotated target: Keratoconus, stable condition (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193844000
annotated source: stable condition keratoconus
annotated property: has_exact_synonym

purulent acute otitis media
type: Class
subclass of: DOID_11506
definition: A suppurative otitis media with sudden onset and a short course.
id: DOID:10435
database_cross_reference: ICD9CM:382.02
database_cross_reference: UMLS_CUI:C0155439
has_obo_namespace: disease_ontology

Axiom
annotated target: A suppurative otitis media with sudden onset and a short course.
database_cross_reference: url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false
annotated source: purulent acute otitis media
annotated property: definition

metastasis to lymph node
type: Class
id: DOID:10437
has_obo_namespace: disease_ontology
deprecated: true

Mooren's ulcer
type: Class
subclass of: DOID 8463
id: DOID:10439
database_cross_reference: ICD10CM:H16.05
database_cross_reference: ICD9CM:370.07
has_exact_synonym: Mooren ulcer
has_exact_synonym: Mooren's ulcer (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:22440001
database_cross_reference: UMLS_CUI:C0155072
has_obo_namespace: disease_ontology

Axiom
annotated target: Mooren's ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:22440001
annotated source: Mooren's ulcer
annotated property: has_exact_synonym

nontraumatic rupture of muscle
type: Class
id: DOID:1044
has_exact_synonym: Non-traumatic muscle tear
has_exact_synonym: Nontraumatic rupture of muscle (disorder)
has_exact_synonym: Rupture of muscle, nontraumatic
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Non-traumatic muscle tear
database_cross_reference: SNOMEDCT_2005_07_31:156729009
annotated source: nontraumatic rupture of muscle
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:728.83
annotated target: Rupture of muscle, nontraumatic
annotated source: nontraumatic rupture of muscle
annotated property: has_exact_synonym

Axiom
annotated target: Nontraumatic rupture of muscle (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:29191005
annotated source: nontraumatic rupture of muscle
annotated property: has_exact_synonym

Axiom
annotated target: Non-traumatic muscle tear
database_cross_reference: SNOMEDCT_2005_07_31:268106003
annotated source: nontraumatic rupture of muscle
annotated property: has_exact_synonym

mycotic corneal ulcer
type: Class
subclass of: DOID 8463
id: DOID:10440
database_cross_reference: ICD10CM:H16.06
database_cross_reference: ICD9CM:370.05
has_exact_synonym: Mycotic corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:397977001
database_cross_reference: SNOMEDCT_US_2015_03_01:59939007
database_cross_reference: UMLS_CUI:C0155071
has_obo_namespace: disease_ontology

Axiom
annotated target: Mycotic corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:397977001
annotated source: mycotic corneal ulcer
annotated property: has_exact_synonym

Axiom
annotated target: Mycotic corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:59939007
annotated source: mycotic corneal ulcer
annotated property: has_exact_synonym

marginal corneal ulcer
type: Class
subclass of: DOID 8463
id: DOID:10441
database_cross_reference: ICD10CM:H16.04
database_cross_reference: ICD9CM:370.01
has_exact_synonym: Marginal corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:47398006
database_cross_reference: UMLS_CUI:C0155067
has_obo_namespace: disease_ontology

Axiom
annotated target: Marginal corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:47398006
annotated source: marginal corneal ulcer
annotated property: has_exact_synonym

hypopyon ulcer
type: Class
subclass of: hypopyon
id: DOID:10442
has_exact_synonym: Hypopyon ulcer (disorder)
database_cross_reference: ICD10CM:H16.03
database_cross_reference: ICD9CM:370.04
database_cross_reference: SNOMEDCT_US_2015_03_01:193762002
database_cross_reference: SNOMEDCT_US_2015_03_01:267633000
database_cross_reference: SNOMEDCT_US_2015_03_01:6395007
database_cross_reference: UMLS_CUI:C0155070
has_obo_namespace: disease_ontology

Axiom
annotated target: Hypopyon ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:6395007
annotated source: hypopyon ulcer
annotated property: has_exact_synonym

hypopyon
type: Class
subclass of: DOID 9383
id: DOID:10443
has_exact_synonym: Hypopyon (disorder)
database_cross_reference: ICD10CM:H20.05
database_cross_reference: ICD9CM:364.05
database_cross_reference: NCI:C50593
database_cross_reference: SNOMEDCT_US_2015_03_01:87807004
database_cross_reference: UMLS_CUI:C0020641
has_obo_namespace: disease_ontology

Axiom
annotated target: Hypopyon (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:87807004
annotated source: hypopyon
annotated property: has_exact_synonym

ring corneal ulcer
type: Class
subclass of: DOID 8463
id: DOID:10444
database_cross_reference: ICD10CM:H16.02
database_cross_reference: ICD9CM:370.02
has_exact_synonym: Ring corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:111520007
database_cross_reference: SNOMEDCT_US_2015_03_01:193760005
database_cross_reference: UMLS_CUI:C0155068
has_obo_namespace: disease_ontology

Axiom
annotated target: Ring corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:111520007
annotated source: ring corneal ulcer
annotated property: has_exact_synonym

perforated corneal ulcer
type: Class
subclass of: DOID 8463
id: DOID:10445
database_cross_reference: ICD10CM:H16.07
database_cross_reference: ICD9CM:370.06
has_exact_synonym: Perforated corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:46606001
database_cross_reference: UMLS_CUI:C0151844
has_obo_namespace: disease_ontology

Axiom
annotated target: Perforated corneal ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:46606001
annotated source: perforated corneal ulcer
annotated property: has_exact_synonym

thyroid dysfunction complicating pregnancy, childbirth, or the puerperium
type: Class
has_alternative_id: DOID:10446
id: DOID:10447
has_alternative_id: DOID:14076
has_alternative_id: DOID:14077
has_exact_synonym: Thyroid dysfunction of mother, with delivery
has_exact_synonym: antepartum thyroid dysfunction
has_obo_namespace: disease_ontology
has_exact_synonym: postpartum thyroid dysfunction
deprecated: true

fascia disease
type: Class
id: DOID:1045
has_obo_namespace: disease_ontology
deprecated: true

tonsillitis
type: Class
subclass of: DOID 974
definition: An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur.
has_alternative_id: DOID:10454
id: DOID:10456
has_alternative_id: DOID:13751
database_cross_reference: ICD10CM:J35.01
database_cross_reference: ICD9CM:474.00
database_cross_reference: MSH:D014069
database_cross_reference: SNOMEDCT_US_2015_03_01:155530006
database_cross_reference: SNOMEDCT_US_2015_03_01:195665006
database_cross_reference: SNOMEDCT_US_2015_03_01:195794009
database_cross_reference: SNOMEDCT_US_2015_03_01:90176007
database_cross_reference: SNOMEDCT_US_2015_03_01:90979004
has_exact_synonym: Throat infection - tonsillitis
has_exact_synonym: Tonsillitis (disorder)
has_exact_synonym: Tonsillitis, NOS
database_cross_reference: UMLS_CUI:C0040425
database_cross_reference: UMLS_CUI:C0149517
has_exact_synonym: chronic tonsillitis
has_exact_synonym: chronic tonsillitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:195665006
annotated target: Throat infection - tonsillitis
annotated source: tonsillitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:463
annotated target: Tonsillitis, NOS
annotated source: tonsillitis
annotated property: has_exact_synonym

Axiom
annotated target: An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur.
database_cross_reference: url:http://en.wikipedia.org/wiki/Tonsillitis
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis
annotated source: tonsillitis
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:90176007
annotated target: Tonsillitis (disorder)
annotated source: tonsillitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:90979004
annotated target: chronic tonsillitis (disorder)
annotated source: tonsillitis
annotated property: has_exact_synonym

Legionnaires' disease
type: Class
subclass of: legionellosis
has_exact_synonym: (Legionella) or (Legionnaire's disease)
definition: A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
id: DOID:10457
database_cross_reference: ICD10CM:A48.1
database_cross_reference: ICD9CM:482.84
has_exact_synonym: Infection by Legionella pneumophilia (disorder)
has_exact_synonym: Legionella pneumonia (disorder)
database_cross_reference: MSH:D007877
database_cross_reference: SNOMEDCT_US_2015_03_01:154315008
database_cross_reference: SNOMEDCT_US_2015_03_01:195889001
database_cross_reference: SNOMEDCT_US_2015_03_01:266186009
database_cross_reference: SNOMEDCT_US_2015_03_01:269574000
database_cross_reference: SNOMEDCT_US_2015_03_01:312403005
database_cross_reference: SNOMEDCT_US_2015_03_01:74881002
database_cross_reference: UMLS_CUI:C0023241
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
database_cross_reference: url:http://en.wikipedia.org/wiki/Legionellosis
annotated source: Legionnaires' disease
annotated property: definition

Axiom
annotated target: Infection by Legionella pneumophilia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:269574000
annotated source: Legionnaires' disease
annotated property: has_exact_synonym

Axiom
annotated target: (Legionella) or (Legionnaire's disease)
database_cross_reference: SNOMEDCT_2005_07_31:266186009
annotated source: Legionnaires' disease
annotated property: has_exact_synonym

Axiom
annotated target: Legionella pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195889001
annotated source: Legionnaires' disease
annotated property: has_exact_synonym

legionellosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
id: DOID:10458
has_exact_synonym: Legionella infection (disorder)
database_cross_reference: MSH:D007876
database_cross_reference: SNOMEDCT_US_2015_03_01:26726000
database_cross_reference: UMLS_CUI:C0023240
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: Legionella infection (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:26726000
annotated source: legionellosis
annotated property: has_exact_synonym

Axiom
annotated target: A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
database_cross_reference: url:http://en.wikipedia.org/wiki/Legionellosis
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm
annotated source: legionellosis
annotated property: definition

common cold
type: Class
subclass of: DOID 974
has_exact_synonym: Acute viral rhinopharyngitis
definition: An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
id: DOID:10459
database_cross_reference: ICD10CM:J00
database_cross_reference: ICD9CM:460
database_cross_reference: MSH:D003139
database_cross_reference: NCI:C34500
database_cross_reference: NCI:C78599
has_exact_synonym: Nasopharyngitis - acute
has_exact_synonym: Nasopharyngitis, acute
database_cross_reference: SNOMEDCT_US_2015_03_01:155497009
database_cross_reference: SNOMEDCT_US_2015_03_01:195648002
database_cross_reference: SNOMEDCT_US_2015_03_01:232341009
database_cross_reference: SNOMEDCT_US_2015_03_01:232342002
database_cross_reference: SNOMEDCT_US_2015_03_01:266377009
database_cross_reference: SNOMEDCT_US_2015_03_01:54150009
database_cross_reference: SNOMEDCT_US_2015_03_01:82272006
database_cross_reference: UMLS_CUI:C0009443
has_exact_synonym: acute Nasopharyngitis
has_exact_synonym: acute coryza
has_exact_synonym: acute nasopharyngitis [common cold]
has_exact_synonym: acute rhinitis
has_obo_namespace: disease_ontology
has_exact_synonym: rhino-sinusitis

Axiom
database_cross_reference: ICD9CM_2006:460
annotated target: acute nasopharyngitis [common cold]
annotated source: common cold
annotated property: has_exact_synonym

Axiom
annotated target: An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold
annotated source: common cold
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:460
annotated target: Nasopharyngitis, acute
annotated source: common cold
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C34500
annotated target: acute Nasopharyngitis
annotated source: common cold
annotated property: has_exact_synonym

Axiom
annotated target: Nasopharyngitis - acute
database_cross_reference: SNOMEDCT_2005_07_31:266377009
annotated source: common cold
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:232341009
annotated target: acute rhinitis
annotated source: common cold
annotated property: has_exact_synonym

nasopharyngitis
type: Class
subclass of: DOID 9561
definition: A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
id: DOID:10460
has_alternative_id: DOID:11587
database_cross_reference: ICD10CM:J00
database_cross_reference: ICD10CM:J31.1
database_cross_reference: ICD9CM:472.2
database_cross_reference: MSH:D009304
database_cross_reference: NCI:C34837
has_exact_synonym: Nasopharyngitis (disorder)
has_exact_synonym: Nasopharyngitis NOS
database_cross_reference: SNOMEDCT_US_2015_03_01:155524006
database_cross_reference: SNOMEDCT_US_2015_03_01:47841006
database_cross_reference: SNOMEDCT_US_2015_03_01:51476001
database_cross_reference: UMLS_CUI:C0027441
database_cross_reference: UMLS_CUI:C0155826
has_exact_synonym: chronic nasopharyngitis
has_exact_synonym: chronic nasopharyngitis (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
database_cross_reference: url:http://medical-dictionary.thefreedictionary.com/nasopharyngitis
database_cross_reference: url:http://www.merriam-webster.com/medical/nasopharyngitis
annotated source: nasopharyngitis
annotated property: definition

Axiom
annotated target: Nasopharyngitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:51476001
annotated source: nasopharyngitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:47841006
annotated target: chronic nasopharyngitis (disorder)
annotated source: nasopharyngitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:460
annotated target: Nasopharyngitis NOS
annotated source: nasopharyngitis
annotated property: has_exact_synonym

dentin caries
type: Class
subclass of: DOID 216
has_exact_synonym: Compound dental caries (disorder)
id: DOID:10461
has_exact_synonym: Dental caries extending into dentine
has_exact_synonym: Dentin caries, NOS
database_cross_reference: ICD9CM:521.02
database_cross_reference: SNOMEDCT_US_2015_03_01:442551007
database_cross_reference: SNOMEDCT_US_2015_03_01:44828002
database_cross_reference: SNOMEDCT_US_2015_03_01:50047001
database_cross_reference: UMLS_CUI:C0266846
has_obo_namespace: disease_ontology

Axiom
annotated target: Dentin caries, NOS
database_cross_reference: SNOMEDCT_2005_07_31:44828002
annotated source: dentin caries
annotated property: has_exact_synonym

Axiom
annotated target: Dental caries extending into dentine
database_cross_reference: ICD9CM_2006:521.02
annotated source: dentin caries
annotated property: has_exact_synonym

Axiom
annotated target: Compound dental caries (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:50047001
annotated source: dentin caries
annotated property: has_exact_synonym

diabetes mellitus juvenile type, uncontrolled, with neurological manifestations
type: Class
id: DOID:10469
has_exact_synonym: Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations
database_cross_reference: ICD9CM_2006:250.63
annotated source: diabetes mellitus juvenile type, uncontrolled, with neurological manifestations
annotated property: has_exact_synonym

Mental disorder complicating pregnancy, childbirth, or the puerperium
type: Class
has_alternative_id: DOID:1046
id: DOID:1047
has_alternative_id: DOID:10663
has_alternative_id: DOID:10664
has_alternative_id: DOID:10665
has_alternative_id: DOID:12734
has_alternative_id: DOID:14128
has_alternative_id: DOID:9701
has_exact_synonym: Mental disorder of mother, antepartum
has_exact_synonym: Mental disorder of mother, with delivery
has_obo_namespace: disease_ontology
has_exact_synonym: peripheral neuritis antepartum
has_exact_synonym: peripheral neuritis in pregnancy, with delivery
has_exact_synonym: peripheral neuritis postpartum
has_exact_synonym: postpartum edema or excessive weight gain
has_exact_synonym: postpartum mental disorder of mother
deprecated: true

patellar tendinitis
type: Class
subclass of: DOID 971
id: DOID:10471
database_cross_reference: ICD10CM:M76.5
database_cross_reference: ICD10CM:M76.50
database_cross_reference: ICD9CM:726.64
has_exact_synonym: Patellar tendonitis (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:156662006
database_cross_reference: SNOMEDCT_US_2015_03_01:268089006
database_cross_reference: SNOMEDCT_US_2015_03_01:37785001
database_cross_reference: UMLS_CUI:C0158317
has_obo_namespace: disease_ontology

Axiom
annotated target: Patellar tendonitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:37785001
annotated source: patellar tendinitis
annotated property: has_exact_synonym

candidal pneumonia
type: Class
definition: A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain.
has_exact_synonym: Candidiasis of lung
id: DOID:10472
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Candidiasis of lung
database_cross_reference: ICD9CM_2006:112.4
annotated source: candidal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain.
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/
annotated source: candidal pneumonia
annotated property: definition

wrist or carpus enthesopathy
type: Class
id: DOID:10473
has_exact_synonym: Enthesopathy of the wrist and carpus (disorder)
has_exact_synonym: Enthesopathy of wrist and carpus
has_exact_synonym: Enthesopathy of wrist and/or carpus (disorder)
has_exact_synonym: Wrist or carpus enthesopathy NOS (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:202860005
annotated target: Wrist or carpus enthesopathy NOS (disorder)
annotated source: wrist or carpus enthesopathy
annotated property: has_exact_synonym

Axiom
annotated target: Enthesopathy of wrist and/or carpus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:33439002
annotated source: wrist or carpus enthesopathy
annotated property: has_exact_synonym

Axiom
annotated target: Enthesopathy of wrist and carpus
database_cross_reference: ICD9CM_2006:726.4
annotated source: wrist or carpus enthesopathy
annotated property: has_exact_synonym

Axiom
annotated target: Enthesopathy of the wrist and carpus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:202859000
annotated source: wrist or carpus enthesopathy
annotated property: has_exact_synonym

diaphragmatic eventration
type: Class
subclass of: diaphragm disease
id: DOID:10480
database_cross_reference: ICD10CM:Q79.1
database_cross_reference: MSH:D003965
database_cross_reference: NCI:C98912
database_cross_reference: SNOMEDCT_US_2015_03_01:157006001
database_cross_reference: SNOMEDCT_US_2015_03_01:268351009
database_cross_reference: SNOMEDCT_US_2015_03_01:34168003
database_cross_reference: UMLS_CUI:C0011981
has_obo_namespace: disease_ontology

diaphragm disease
type: Class
subclass of: muscular disease
definition: A muscular disease that is located_in the diaphragm.
id: DOID:10481
database_cross_reference: ICD10CM:J98.6
database_cross_reference: ICD9CM:519.4
database_cross_reference: SNOMEDCT_US_2015_03_01:196182001
database_cross_reference: SNOMEDCT_US_2015_03_01:48475001
database_cross_reference: UMLS_CUI:C0152097
has_obo_namespace: disease_ontology

Axiom
annotated target: A muscular disease that is located_in the diaphragm.
database_cross_reference: url:http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm
annotated source: diaphragm disease
annotated property: definition

hypertonic, incoordinate, or prolonged uterine contractions
type: Class
has_alternative_id: DOID:10482
id: DOID:10483
has_alternative_id: DOID:11860
has_obo_namespace: disease_ontology
deprecated: true

esophageal atresia
type: Class
subclass of: DOID 6050
has_exact_synonym: Congenital atresia of esophagus (disorder)
has_exact_synonym: Congenital imperforate esophagus
id: DOID:10485
database_cross_reference: ICD10CM:Q39.0
has_exact_synonym: Imperforate esophagus (disorder)
database_cross_reference: MSH:D004933
database_cross_reference: NCI:C87072
has_exact_synonym: Oesophageal atresia
database_cross_reference: SNOMEDCT_US_2015_03_01:156947007
database_cross_reference: SNOMEDCT_US_2015_03_01:204656005
database_cross_reference: SNOMEDCT_US_2015_03_01:26179002
database_cross_reference: UMLS_CUI:C0014850
has_obo_namespace: disease_ontology

Axiom
annotated target: Imperforate esophagus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:204656005
annotated source: esophageal atresia
annotated property: has_exact_synonym

Axiom
annotated target: Congenital imperforate esophagus
database_cross_reference: MTHICD9_2006:750.3
annotated source: esophageal atresia
annotated property: has_exact_synonym

Axiom
annotated target: Oesophageal atresia
database_cross_reference: SNOMEDCT_2005_07_31:156947007
annotated source: esophageal atresia
annotated property: has_exact_synonym

Axiom
annotated target: Congenital atresia of esophagus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:26179002
annotated source: esophageal atresia
annotated property: has_exact_synonym

intestinal atresia
type: Class
subclass of: DOID 5295
id: DOID:10486
database_cross_reference: ICD10CM:Q41.1
database_cross_reference: MSH:D007409
database_cross_reference: NCI:C84790
database_cross_reference: UMLS_CUI:C0021828
has_obo_namespace: disease_ontology

Hirschsprung's disease
type: Class
subclass of: DOID_11372
definition: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
id: DOID:10487
database_cross_reference: EFOpat_id:647
has_exact_synonym: Hirschsprung disease
database_cross_reference: ICD10CM:Q43.1
database_cross_reference: MSH:D006627
database_cross_reference: NCI:C34700
database_cross_reference: OMIM:142623
database_cross_reference: OMIM:202550
database_cross_reference: OMIM:600155
database_cross_reference: OMIM:613711
database_cross_reference: OMIM:613712
database_cross_reference: ORDO:388
database_cross_reference: SNOMEDCT_US_2015_03_01:156957008
database_cross_reference: SNOMEDCT_US_2015_03_01:204738000
database_cross_reference: SNOMEDCT_US_2015_03_01:204739008
database_cross_reference: SNOMEDCT_US_2015_03_01:204742002
database_cross_reference: SNOMEDCT_US_2015_03_01:204744001
database_cross_reference: SNOMEDCT_US_2015_03_01:360436002
database_cross_reference: SNOMEDCT_US_2015_03_01:367495003
database_cross_reference: SNOMEDCT_US_2015_03_01:6687001
database_cross_reference: UMLS_CUI:C0019569
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: aganglionic megacolon
has_exact_synonym: congenital megacolon
has_obo_namespace: disease_ontology
has_exact_synonym: macrocolon
has_exact_synonym: pelvirectal achalasia
has_exact_synonym: total intestinal aganglionosis
in_subset: DO MGI slim

Axiom
database_cross_reference: NCI2004_11_17:C34700
annotated target: aganglionic megacolon
annotated source: Hirschsprung's disease
annotated property: has_exact_synonym

Axiom
annotated target: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
database_cross_reference: url:http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/
database_cross_reference: url:http://en.wikipedia.org/wiki/Hirschsprung%27s_disease
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm
database_cross_reference: url:http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease
annotated source: Hirschsprung's disease
annotated property: definition

Axiom
database_cross_reference: CSP2005:0724-7702
annotated target: pelvirectal achalasia
annotated source: Hirschsprung's disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:204744001
annotated target: macrocolon
annotated source: Hirschsprung's disease
annotated property: has_exact_synonym

imperforate anus
type: Class
subclass of: physical disorder
has_exact_synonym: Congenital atresia of anus (disorder) [Ambiguous]
has_exact_synonym: Congenital or infantile occlusion of anus
id: DOID:10488
database_cross_reference: ICD10CM:Q42.3
has_exact_synonym: Imperforate anus
has_exact_synonym: Imperforate anus (disorder)
has_exact_synonym: Imperforate anus NOS (disorder)
database_cross_reference: MSH:D001006
database_cross_reference: NCI:C84784
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:207500
database_cross_reference: OMIM:301800
database_cross_reference: SNOMEDCT_US_2015_03_01:14118000
database_cross_reference: SNOMEDCT_US_2015_03_01:156956004
database_cross_reference: SNOMEDCT_US_2015_03_01:204712000
database_cross_reference: SNOMEDCT_US_2015_03_01:204731006
database_cross_reference: SNOMEDCT_US_2015_03_01:204733009
database_cross_reference: UMLS_CUI:C0003466
has_exact_synonym: anal atresia (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: Congenital atresia of anus (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:14118000
annotated source: imperforate anus
annotated property: has_exact_synonym

Axiom
annotated target: Congenital or infantile occlusion of anus
database_cross_reference: MTHICD9_2006:751.2
annotated source: imperforate anus
annotated property: has_exact_synonym

Axiom
annotated target: Imperforate anus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:204731006
annotated source: imperforate anus
annotated property: has_exact_synonym

Axiom
annotated target: Imperforate anus
database_cross_reference: SNOMEDCT_2005_07_31:156956004
annotated source: imperforate anus
annotated property: has_exact_synonym

Axiom
annotated target: Imperforate anus NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:204733009
annotated source: imperforate anus
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:204712000
annotated target: anal atresia (disorder)
annotated source: imperforate anus
annotated property: has_exact_synonym

transient disorder of initiating or maintaining wakefulness
type: Class
id: DOID:10489
has_obo_namespace: disease_ontology
deprecated: true

adrenal cortical hypofunction
type: Class
subclass of: DOID 3952
has_exact_synonym: Adrenal Cortical Insufficiency
has_exact_synonym: Adrenal cortical hypofunction (disorder)
has_exact_synonym: Corticoadrenal insufficiency
has_exact_synonym: Corticoadrenal insufficiency NOS
has_exact_synonym: Corticoadrenal insufficiency NOS (disorder)
id: DOID:10493
database_cross_reference: ICD9CM:255.4
database_cross_reference: SNOMEDCT_US_2015_03_01:154707007
database_cross_reference: SNOMEDCT_US_2015_03_01:190527008
database_cross_reference: SNOMEDCT_US_2015_03_01:267398003
database_cross_reference: SNOMEDCT_US_2015_03_01:267483004
database_cross_reference: SNOMEDCT_US_2015_03_01:386584007
database_cross_reference: SNOMEDCT_US_2015_03_01:68588005
database_cross_reference: UMLS_CUI:C0405580
has_obo_namespace: disease_ontology

Axiom
annotated target: Corticoadrenal insufficiency
database_cross_reference: SNOMEDCT_2005_07_31:267483004
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Corticoadrenal insufficiency
database_cross_reference: SNOMEDCT_2005_07_31:154707007
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Corticoadrenal insufficiency
database_cross_reference: ICD9CM_2006:255.4
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Adrenal Cortical Insufficiency
database_cross_reference: NCI2004_11_17:C27150
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Corticoadrenal insufficiency NOS
database_cross_reference: SNOMEDCT_2005_07_31:190527008
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Adrenal cortical hypofunction (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:68588005
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Corticoadrenal insufficiency NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:267398003
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Adrenal cortical hypofunction (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:386584007
annotated source: adrenal cortical hypofunction
annotated property: has_exact_synonym

pulmonary valve syphilitic endocarditis
type: Class
id: DOID:10494
has_exact_synonym: Syphilitic endocarditis of pulmonary valve (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186878002
annotated target: Syphilitic endocarditis of pulmonary valve (disorder)
annotated source: pulmonary valve syphilitic endocarditis
annotated property: has_exact_synonym

orbital granuloma
type: Class
subclass of: DOID 1397
id: DOID:10499
database_cross_reference: ICD10CM:H05.11
database_cross_reference: ICD9CM:376.11
database_cross_reference: NCI:C3653
database_cross_reference: SNOMEDCT_US_2015_03_01:194008000
database_cross_reference: SNOMEDCT_US_2015_03_01:72776003
database_cross_reference: UMLS_CUI:C0155262
has_obo_namespace: disease_ontology
has_exact_synonym: orbital Granuloma
has_exact_synonym: orbital granuloma (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:72776003
annotated target: orbital granuloma (disorder)
annotated source: orbital granuloma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3653
annotated target: orbital Granuloma
annotated source: orbital granuloma
annotated property: has_exact_synonym

menopausal and postmenopausal disorder
type: Class
id: DOID:10501
has_obo_namespace: disease_ontology
deprecated: true

generalized nonconvulsive epilepsy disease
type: Class
has_alternative_id: DOID:10504
id: DOID:10505
has_obo_namespace: disease_ontology
has_exact_synonym: generalized nonconvulsive epilepsy with intractable epilepsy
deprecated: true

Dressler's syndrome
type: Class
subclass of: DOID 1787
definition: A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
id: DOID:10507
has_exact_synonym: Dressler syndrome
database_cross_reference: ICD10CM:I24.1
database_cross_reference: ICD9CM:411.0
has_exact_synonym: Postmyocardial infarction syndrome
has_exact_synonym: Postmyocardial infarction syndrome (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:66189004
database_cross_reference: UMLS_CUI:C0152107
has_obo_namespace: disease_ontology

Axiom
annotated target: A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dressler%27s_syndrome
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307
annotated source: Dressler's syndrome
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:411.0
annotated target: Postmyocardial infarction syndrome
annotated source: Dressler's syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Postmyocardial infarction syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:66189004
annotated source: Dressler's syndrome
annotated property: has_exact_synonym

Bacillus anthracis pneumonia
type: Class
definition: A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis.
has_exact_synonym: Anthrax pneumonia (disorder)
id: DOID:10508
has_exact_synonym: Pneumonia in anthrax
has_exact_synonym: Woolsorters' pneumonia
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:11389007
annotated target: Woolsorters' pneumonia
annotated source: Bacillus anthracis pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Anthrax pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195902009
annotated source: Bacillus anthracis pneumonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:484.5
annotated target: Pneumonia in anthrax
annotated source: Bacillus anthracis pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis.
database_cross_reference: url:http://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/8460135
annotated source: Bacillus anthracis pneumonia
annotated property: definition

influenza virus pneumonia
type: Class
definition: A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills.
id: DOID:10510
has_obo_namespace: disease_ontology
has_exact_synonym: influenza pneumonia
has_exact_synonym: influenzal pneumonia
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills.
database_cross_reference: url:http://chestjournal.chestpubs.org/content/119/6/1717.full.pdf+html
database_cross_reference: url:http://en.wikipedia.org/wiki/Pneumonia
annotated source: influenza virus pneumonia
annotated property: definition

malignant otitis externa
type: Class
subclass of: DOID 9463
definition: A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
id: DOID:10516
database_cross_reference: ICD10CM:H60.2
database_cross_reference: ICD10CM:H60.20
database_cross_reference: ICD9CM:380.14
database_cross_reference: SNOMEDCT_US_2015_03_01:194206006
database_cross_reference: SNOMEDCT_US_2015_03_01:94146005
database_cross_reference: UMLS_CUI:C0155395
has_obo_namespace: disease_ontology

Axiom
annotated target: A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
database_cross_reference: url:http://www.merck.com/mmhe/sec19/ch219/ch219c.html
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm
annotated source: malignant otitis externa
annotated property: definition

beach ear
type: Class
subclass of: DOID 9463
definition: A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
id: DOID:10518
database_cross_reference: ICD9CM:380.12
database_cross_reference: SNOMEDCT_US_2015_03_01:194201001
database_cross_reference: SNOMEDCT_US_2015_03_01:30250000
database_cross_reference: SNOMEDCT_US_2015_03_01:39149004
has_exact_synonym: Tank ear
database_cross_reference: UMLS_CUI:C0155393
has_exact_synonym: acute bacterial inflammation of external ear (disorder)
has_exact_synonym: acute otitis externa, diffuse
has_exact_synonym: acute swimmer's ear
has_exact_synonym: acute swimmer's ear (disorder)
has_exact_synonym: acute swimmers' ear
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:380.12
annotated target: acute swimmers' ear
annotated source: beach ear
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:39149004
annotated target: acute bacterial inflammation of external ear (disorder)
annotated source: beach ear
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:380.12
annotated target: Tank ear
annotated source: beach ear
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:30250000
annotated target: acute swimmer's ear
annotated source: beach ear
annotated property: has_exact_synonym

Axiom
annotated target: A otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
database_cross_reference: url:http://en.wikipedia.org/wiki/Otitis_externa
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm
annotated source: beach ear
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:380.10
annotated target: acute otitis externa, diffuse
annotated source: beach ear
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194201001
annotated target: acute swimmer's ear (disorder)
annotated source: beach ear
annotated property: has_exact_synonym

chronic fungal otitis externa
type: Class
subclass of: otomycosis
definition: A otomycosis which is persistent and long-lasting or recurrent.
id: DOID:10519
database_cross_reference: ICD9CM:380.15
database_cross_reference: SNOMEDCT_US_2015_03_01:111898002
database_cross_reference: SNOMEDCT_US_2015_03_01:194209004
database_cross_reference: UMLS_CUI:C0155396
has_exact_synonym: chronic mycotic otitis externa
has_exact_synonym: chronic mycotic otitis externa (disorder)
has_exact_synonym: chronic mycotic otitis externa NOS (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:380.15
annotated target: chronic mycotic otitis externa
annotated source: chronic fungal otitis externa
annotated property: has_exact_synonym

Axiom
annotated target: A otomycosis which is persistent and long-lasting or recurrent.
database_cross_reference: url:http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf
annotated source: chronic fungal otitis externa
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:111898002
annotated target: chronic mycotic otitis externa (disorder)
annotated source: chronic fungal otitis externa
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194209004
annotated target: chronic mycotic otitis externa NOS (disorder)
annotated source: chronic fungal otitis externa
annotated property: has_exact_synonym

acute infection of pinna
type: Class
subclass of: DOID 9463
definition: A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
id: DOID:10520
database_cross_reference: ICD9CM:380.11
database_cross_reference: SNOMEDCT_US_2015_03_01:56663002
database_cross_reference: UMLS_CUI:C0155392
has_exact_synonym: acute infection of pinna (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: A otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
database_cross_reference: url:http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false
annotated source: acute infection of pinna
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:56663002
annotated target: acute infection of pinna (disorder)
annotated source: acute infection of pinna
annotated property: has_exact_synonym

pinna disease
type: Class
id: DOID:10521
has_exact_synonym: Unspecified disorder of pinna (disorder)
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of pinna (disorder)
has_exact_synonym: disorder of pinna, unspecified
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:380.30
annotated target: disorder of pinna, unspecified
annotated source: pinna disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194226005
annotated target: Unspecified disorder of pinna (disorder)
annotated source: pinna disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:41663005
annotated target: disorder of pinna (disorder)
annotated source: pinna disease
annotated property: has_exact_synonym

double pterygium
type: Class
subclass of: pterygium
id: DOID:10525
has_exact_synonym: Double pterygium (disorder)
database_cross_reference: ICD9CM:372.44
database_cross_reference: SNOMEDCT_US_2015_03_01:193883003
database_cross_reference: SNOMEDCT_US_2015_03_01:41564009
database_cross_reference: UMLS_CUI:C0155157
has_obo_namespace: disease_ontology

Axiom
annotated target: Double pterygium (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:41564009
annotated source: double pterygium
annotated property: has_exact_synonym

conjunctival pterygium
type: Class
subclass of: pterygium
subclass of: conjunctival degeneration
id: DOID:10526
has_exact_synonym: Pterygium
has_exact_synonym: Pterygium NOS (disorder)
has_exact_synonym: Pterygium, unspecified
has_exact_synonym: Unspecified pterygium (disorder)
has_exact_synonym: Web eye
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193879003
annotated target: Unspecified pterygium (disorder)
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:77489003
annotated target: Web eye
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Axiom
annotated target: Pterygium
database_cross_reference: SNOMEDCT_2005_07_31:155165000
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Axiom
annotated target: Pterygium NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193884009
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:372.40
annotated target: Pterygium, unspecified
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTH:U000135
annotated target: Pterygium
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:372.4
annotated target: Pterygium
annotated source: conjunctival pterygium
annotated property: has_exact_synonym

Haemophilus influenzae pneumonia
type: Class
definition: A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless.
id: DOID:10527
has_exact_synonym: Haemophilus influenzae pneumonia (disorder)
has_exact_synonym: Pneumonia due to H. influenzae
has_exact_synonym: Pneumonia due to Hemophilus influenzae [H. influenzae]
has_obo_namespace: disease_ontology
has_exact_synonym: pneumonia due to hemophilus influenzae
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: MTHICD9_2006:482.2
annotated target: Pneumonia due to H. influenzae
annotated source: Haemophilus influenzae pneumonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:482.2
annotated target: Pneumonia due to Hemophilus influenzae [H. influenzae]
annotated source: Haemophilus influenzae pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Haemophilus influenzae pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:70036007
annotated source: Haemophilus influenzae pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless.
database_cross_reference: url:http://books.google.com/books?id=Bv68Qo6apvQC&pg=PA633&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://pedbase.org/p/pneumonia_haemophilus-influenzae-pneumonia/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf
annotated source: Haemophilus influenzae pneumonia
annotated property: definition

Haemophilus influenzae infectious disease
type: Class
id: DOID:10528
has_exact_synonym: HEMOPHILUS INFLUENZA INFECTION
has_exact_synonym: Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters
has_exact_synonym: Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)
has_exact_synonym: Haemophilus influenzae infection (disorder)
has_exact_synonym: Haemophilus influenzae infection, unspecified (disorder)
has_exact_synonym: Hemophilus Influenza Infection
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: Hemophilus Influenza Infection
database_cross_reference: NCI2004_11_17:C34655
annotated source: Haemophilus influenzae infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters
database_cross_reference: SNOMEDCT_2005_07_31:186452000
annotated source: Haemophilus influenzae infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: HEMOPHILUS INFLUENZA INFECTION
database_cross_reference: MTH:NOCODE
annotated source: Haemophilus influenzae infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Haemophilus influenzae infection (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:91428005
annotated source: Haemophilus influenzae infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187579008
annotated source: Haemophilus influenzae infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Haemophilus influenzae infection, unspecified (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187344007
annotated source: Haemophilus influenzae infectious disease
annotated property: has_exact_synonym

primary Haemophilus infectious disease
type: Class
id: DOID:10529
has_exact_synonym: Haemophilus infection (disorder)
has_exact_synonym: Hemophilus Infection
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: Haemophilus infection (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:41659003
annotated source: primary Haemophilus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Hemophilus Infection
database_cross_reference: NCI2004_11_17:C34654
annotated source: primary Haemophilus infectious disease
annotated property: has_exact_synonym

developmental dislocation of joint
type: Class
has_alternative_id: DOID:1052
id: DOID:1053
has_alternative_id: DOID:11114
has_alternative_id: DOID:11311
has_alternative_id: DOID:12032
has_alternative_id: DOID:12370
has_alternative_id: DOID:13332
has_alternative_id: DOID:13797
has_alternative_id: DOID:1710
has_exact_synonym: Developmental dislocation of ankle and foot joint
has_exact_synonym: Developmental dislocation of forearm joint
has_exact_synonym: Developmental dislocation of hand joint
has_exact_synonym: Developmental dislocation of joint of multiple sites
has_exact_synonym: Developmental dislocation of joint of pelvic region and thigh
has_exact_synonym: Developmental dislocation of joint of shoulder region
has_exact_synonym: Developmental dislocation of lower leg joint
has_exact_synonym: Developmental dislocation of upper arm joint
has_obo_namespace: disease_ontology
deprecated: true

pneumococcal pneumonia
type: Class
definition: A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting.
has_exact_synonym: Chest infection - pneumococcal pneumonia
id: DOID:10531
has_exact_synonym: Lobar -pneumococcal -pneumonia
has_exact_synonym: Lobar pneumonia (disorder)
has_exact_synonym: Pneumococcal lobar pneumonia (disorder)
has_exact_synonym: Pneumococcal pneumonia (disorder)
has_exact_synonym: Pneumococcal pneumonia (disorder) [Ambiguous]
has_exact_synonym: Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]
has_exact_synonym: Streptococcus pneumoniae pneumonia
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: MTHICD9_2006:481
annotated target: Streptococcus pneumoniae pneumonia
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting.
database_cross_reference: url:http://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm
annotated source: pneumococcal pneumonia
annotated property: definition

Axiom
annotated target: Lobar -pneumococcal -pneumonia
database_cross_reference: SNOMEDCT_2005_07_31:155550005
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Chest infection - pneumococcal pneumonia
database_cross_reference: SNOMEDCT_2005_07_31:195884006
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Pneumococcal pneumonia (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:54339004
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Pneumococcal lobar pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:266350000
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Lobar -pneumococcal -pneumonia
database_cross_reference: SNOMEDCT_2005_07_31:266392005
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:481
annotated target: Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Lobar pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:278516003
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

Axiom
annotated target: Pneumococcal pneumonia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:233607000
annotated source: pneumococcal pneumonia
annotated property: has_exact_synonym

streptococcal pneumonia
type: Class
definition: A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias.
id: DOID:10532
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias.
database_cross_reference: url:http://en.wikipedia.org/wiki/Streptococcus
annotated source: streptococcal pneumonia
annotated property: definition

viral pneumonia
type: Class
subclass of: DOID 552
definition: A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
id: DOID:10533
has_alternative_id: DOID:13167
database_cross_reference: ICD10CM:J12.9
database_cross_reference: ICD9CM:480
database_cross_reference: ICD9CM:480.9
database_cross_reference: MSH:D011024
database_cross_reference: SNOMEDCT_US_2015_03_01:155549005
database_cross_reference: SNOMEDCT_US_2015_03_01:195880002
database_cross_reference: SNOMEDCT_US_2015_03_01:195883000
database_cross_reference: SNOMEDCT_US_2015_03_01:75570004
database_cross_reference: UMLS_CUI:C0032310
has_obo_namespace: disease_ontology

Axiom
annotated target: A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Pneumonia
annotated source: viral pneumonia
annotated property: definition

stomach cancer
type: Class
subclass of: DOID 3119
subclass of: DOID 76
definition: A gastrointestinal system cancer that is located_in the stomach.
has_exact_synonym: Ca body - stomach
has_exact_synonym: Ca lesser curvature - stomach (disorder)
id: DOID:10534
has_alternative_id: DOID:10539
has_alternative_id: DOID:10542
has_alternative_id: DOID:10543
has_alternative_id: DOID:4713
database_cross_reference: ICD10CM:C16
database_cross_reference: ICD10CM:C16.2
database_cross_reference: ICD10CM:C16.5
database_cross_reference: ICD10CM:C16.6
database_cross_reference: ICD10CM:C16.9
database_cross_reference: ICD9CM:151
database_cross_reference: ICD9CM:151.4
database_cross_reference: ICD9CM:151.5
database_cross_reference: ICD9CM:151.6
database_cross_reference: ICD9CM:151.9
database_cross_reference: MSH:D013274
database_cross_reference: NCI:C3387
database_cross_reference: NCI:C9331
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:137215
database_cross_reference: OMIM:613659
database_cross_reference: SNOMEDCT_US_2015_03_01:126824007
database_cross_reference: SNOMEDCT_US_2015_03_01:154450001
database_cross_reference: SNOMEDCT_US_2015_03_01:154451002
database_cross_reference: SNOMEDCT_US_2015_03_01:154452009
database_cross_reference: SNOMEDCT_US_2015_03_01:154453004
database_cross_reference: SNOMEDCT_US_2015_03_01:187731004
database_cross_reference: SNOMEDCT_US_2015_03_01:187742008
database_cross_reference: SNOMEDCT_US_2015_03_01:187743003
database_cross_reference: SNOMEDCT_US_2015_03_01:187744009
database_cross_reference: SNOMEDCT_US_2015_03_01:187750004
database_cross_reference: SNOMEDCT_US_2015_03_01:255080008
database_cross_reference: SNOMEDCT_US_2015_03_01:269458007
database_cross_reference: SNOMEDCT_US_2015_03_01:269459004
database_cross_reference: SNOMEDCT_US_2015_03_01:269460009
database_cross_reference: SNOMEDCT_US_2015_03_01:269529007
database_cross_reference: SNOMEDCT_US_2015_03_01:269530002
database_cross_reference: SNOMEDCT_US_2015_03_01:269531003
database_cross_reference: SNOMEDCT_US_2015_03_01:269532005
database_cross_reference: SNOMEDCT_US_2015_03_01:363349007
database_cross_reference: SNOMEDCT_US_2015_03_01:93717002
database_cross_reference: SNOMEDCT_US_2015_03_01:93818001
database_cross_reference: SNOMEDCT_US_2015_03_01:93867004
database_cross_reference: SNOMEDCT_US_2015_03_01:94074003
database_cross_reference: UMLS_CUI:C0024623
database_cross_reference: UMLS_CUI:C0038356
database_cross_reference: UMLS_CUI:C0153421
database_cross_reference: UMLS_CUI:C0153422
database_cross_reference: UMLS_CUI:C0153423
has_exact_synonym: ca greater curvature of stomach
has_obo_namespace: disease_ontology
has_exact_synonym: gastric neoplasm
has_exact_synonym: malignant neoplasm of body of stomach
has_exact_synonym: malignant neoplasm of lesser curve of stomach unspecified (disorder)
has_exact_synonym: malignant tumor of body of stomach (disorder)
has_exact_synonym: malignant tumor of greater curve of stomach (disorder)
has_exact_synonym: malignant tumor of lesser curve of stomach (disorder)
in_subset: DO cancer slim
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187743003
annotated target: malignant neoplasm of lesser curve of stomach unspecified (disorder)
annotated source: stomach cancer
annotated property: has_exact_synonym

Axiom
annotated target: Ca lesser curvature - stomach (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:269530002
annotated source: stomach cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:269460009
annotated target: malignant tumor of greater curve of stomach (disorder)
annotated source: stomach cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2010-1611
database_cross_reference: NCI2004_11_17:C3387
database_cross_reference: SNOMEDCT_2005_07_31:187731004
annotated target: gastric neoplasm
annotated source: stomach cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:269459004
annotated target: malignant tumor of lesser curve of stomach (disorder)
annotated source: stomach cancer
annotated property: has_exact_synonym

Axiom
annotated target: A gastrointestinal system cancer that is located_in the stomach.
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer
database_cross_reference: url:http://en.wikipedia.org/wiki/Stomach
annotated source: stomach cancer
annotated property: definition

Axiom
annotated target: Ca body - stomach
database_cross_reference: SNOMEDCT_2005_07_31:154450001
annotated source: stomach cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187742008
annotated target: malignant tumor of body of stomach (disorder)
annotated source: stomach cancer
annotated property: has_exact_synonym

coxsackie myocarditis
type: Class
definition: A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart.
id: DOID:10535
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart.
database_cross_reference: url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_
annotated source: coxsackie myocarditis
annotated property: definition

malignant gastric granular cell tumor
type: Class
subclass of: stomach cancer
id: DOID:10536
database_cross_reference: NCI:C5484
database_cross_reference: UMLS_CUI:C1334585
has_obo_namespace: disease_ontology
has_exact_synonym: malignant granular cell tumor of stomach

Axiom
database_cross_reference: NCI2004_11_17:C5484
annotated target: malignant granular cell tumor of stomach
annotated source: malignant gastric granular cell tumor
annotated property: has_exact_synonym

recurrent malignant gastric neoplasm
type: Class
id: DOID:10537
has_obo_namespace: disease_ontology
deprecated: true

gastric fundus cancer
type: Class
subclass of: stomach cancer
has_exact_synonym: Ca fundus - stomach
has_exact_synonym: Ca fundus - stomach (disorder)
id: DOID:10538
database_cross_reference: ICD10CM:C16.1
database_cross_reference: ICD9CM:151.3
database_cross_reference: SNOMEDCT_US_2015_03_01:154449001
database_cross_reference: SNOMEDCT_US_2015_03_01:187741001
database_cross_reference: SNOMEDCT_US_2015_03_01:269528004
database_cross_reference: SNOMEDCT_US_2015_03_01:93809003
database_cross_reference: UMLS_CUI:C0153420
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of fundus of stomach
has_exact_synonym: malignant tumor of fundus of stomach (disorder)

Axiom
database_cross_reference: ICD9CM_2006:151.3
annotated target: malignant neoplasm of fundus of stomach
annotated source: gastric fundus cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93809003
annotated target: malignant neoplasm of fundus of stomach
annotated source: gastric fundus cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187741001
annotated target: malignant tumor of fundus of stomach (disorder)
annotated source: gastric fundus cancer
annotated property: has_exact_synonym

Axiom
annotated target: Ca fundus - stomach (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:269528004
annotated source: gastric fundus cancer
annotated property: has_exact_synonym

Axiom
annotated target: Ca fundus - stomach
database_cross_reference: SNOMEDCT_2005_07_31:154449001
annotated source: gastric fundus cancer
annotated property: has_exact_synonym

glaucoma associated with chamber angle anomalies
type: Class
id: DOID:1054
has_exact_synonym: Glaucoma associated with chamber angle anomalies (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Glaucoma associated with chamber angle anomalies (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:19039006
annotated source: glaucoma associated with chamber angle anomalies
annotated property: has_exact_synonym

gastric lymphoma
type: Class
subclass of: stomach cancer
id: DOID:10540
has_exact_synonym: Lymphoma of the stomach
database_cross_reference: MSH:C535648
database_cross_reference: NCI:C4636
database_cross_reference: SNOMEDCT_US_2015_03_01:276811008
database_cross_reference: UMLS_CUI:C0349532
has_obo_namespace: disease_ontology
has_exact_synonym: gastric lymphoma (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:276811008
annotated target: gastric lymphoma (disorder)
annotated source: gastric lymphoma
annotated property: has_exact_synonym

Axiom
annotated target: Lymphoma of the stomach
database_cross_reference: NCI2004_11_17:C4636
annotated source: gastric lymphoma
annotated property: has_exact_synonym

microinvasive gastric cancer
type: Class
subclass of: DOID 3717
id: DOID:10541
database_cross_reference: NCI:C27131
database_cross_reference: SNOMEDCT_US_2015_03_01:276809004
has_exact_synonym: Surface gastric cancer
database_cross_reference: UMLS_CUI:C0349530
has_obo_namespace: disease_ontology
has_exact_synonym: early gastric cancer (disorder)

Axiom
database_cross_reference: NCI2004_11_17:C27131
annotated target: Surface gastric cancer
annotated source: microinvasive gastric cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:276809004
annotated target: early gastric cancer (disorder)
annotated source: microinvasive gastric cancer
annotated property: has_exact_synonym

pylorus cancer
type: Class
subclass of: stomach cancer
has_exact_synonym: Ca pylorus - stomach
has_exact_synonym: Ca pylorus - stomach (disorder)
id: DOID:10544
database_cross_reference: ICD10CM:C16.4
database_cross_reference: ICD9CM:151.1
database_cross_reference: SNOMEDCT_US_2015_03_01:154448009
database_cross_reference: SNOMEDCT_US_2015_03_01:187736009
database_cross_reference: SNOMEDCT_US_2015_03_01:187739002
database_cross_reference: SNOMEDCT_US_2015_03_01:269527009
database_cross_reference: UMLS_CUI:C0153418
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of Prepylorus
has_exact_synonym: malignant neoplasm of pylorus of stomach NOS (disorder)
has_exact_synonym: malignant tumor of pylorus (disorder)

Axiom
annotated target: Ca pylorus - stomach
database_cross_reference: SNOMEDCT_2005_07_31:154448009
annotated source: pylorus cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187736009
annotated target: malignant tumor of pylorus (disorder)
annotated source: pylorus cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187739002
annotated target: malignant neoplasm of pylorus of stomach NOS (disorder)
annotated source: pylorus cancer
annotated property: has_exact_synonym

Axiom
annotated target: Ca pylorus - stomach (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:269527009
annotated source: pylorus cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:151.1
annotated target: malignant neoplasm of Prepylorus
annotated source: pylorus cancer
annotated property: has_exact_synonym

coxsackievirus infectious disease
type: Class
definition: An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.
id: DOID:10545
has_alternative_id: DOID:10546
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Coxsackievirus
annotated source: coxsackievirus infectious disease
annotated property: definition

pyloric antrum cancer
type: Class
subclass of: pylorus cancer
id: DOID:10547
database_cross_reference: ICD10CM:C16.3
database_cross_reference: ICD9CM:151.2
database_cross_reference: SNOMEDCT_US_2015_03_01:187740000
database_cross_reference: SNOMEDCT_US_2015_03_01:93976007
database_cross_reference: UMLS_CUI:C0153419
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of antrum of stomach NOS
has_exact_synonym: malignant tumor of pyloric antrum (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187740000
annotated target: malignant tumor of pyloric antrum (disorder)
annotated source: pyloric antrum cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:151.2
annotated target: malignant neoplasm of antrum of stomach NOS
annotated source: pyloric antrum cancer
annotated property: has_exact_synonym

cardia cancer
type: Class
subclass of: stomach cancer
has_exact_synonym: Ca cardia - stomach
id: DOID:10548
database_cross_reference: ICD10CM:C16.0
database_cross_reference: ICD9CM:151.0
database_cross_reference: SNOMEDCT_US_2015_03_01:154447004
database_cross_reference: SNOMEDCT_US_2015_03_01:187732006
database_cross_reference: SNOMEDCT_US_2015_03_01:187735008
database_cross_reference: SNOMEDCT_US_2015_03_01:269526000
database_cross_reference: SNOMEDCT_US_2015_03_01:93738008
database_cross_reference: UMLS_CUI:C0153417
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of cardia of stomach

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93738008
annotated target: malignant neoplasm of cardia of stomach
annotated source: cardia cancer
annotated property: has_exact_synonym

Axiom
annotated target: Ca cardia - stomach
database_cross_reference: SNOMEDCT_2005_07_31:154447004
annotated source: cardia cancer
annotated property: has_exact_synonym

diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations
type: Class
id: DOID:10549
has_exact_synonym: Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations
has_exact_synonym: Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations
database_cross_reference: MTHICD9_2006:250.51
annotated source: diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations
annotated property: has_exact_synonym

Axiom
annotated target: Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations
database_cross_reference: ICD9CM_2006:250.51
annotated source: diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations
annotated property: has_exact_synonym

glaucoma associated with congenital anomalies, dystrophies and systemic syndromes
type: Class
id: DOID:1055
has_exact_synonym: Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes
database_cross_reference: ICD9CM_2006:365.4
annotated source: glaucoma associated with congenital anomalies, dystrophies and systemic syndromes
annotated property: has_exact_synonym

acute eustachian salpingitis
type: Class
subclass of: DOID 2000
definition: A otosalpingitis with a sudden onset and a short course.
id: DOID:10550
database_cross_reference: ICD10CM:H68.01
database_cross_reference: ICD10CM:H68.019
database_cross_reference: ICD9CM:381.51
database_cross_reference: SNOMEDCT_US_2015_03_01:13043002
database_cross_reference: SNOMEDCT_US_2015_03_01:194268005
database_cross_reference: UMLS_CUI:C0155429
has_exact_synonym: acute eustachian salpingitis (disorder)
has_exact_synonym: acute eustachian tube salpingitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194268005
annotated target: acute eustachian tube salpingitis (disorder)
annotated source: acute eustachian salpingitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:13043002
annotated target: acute eustachian salpingitis (disorder)
annotated source: acute eustachian salpingitis
annotated property: has_exact_synonym

Axiom
annotated target: A otosalpingitis with a sudden onset and a short course.
database_cross_reference: url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false
annotated source: acute eustachian salpingitis
annotated property: definition

cerebral toxoplasmosis
type: Class
definition: A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.
id: DOID:10551
has_exact_synonym: Encephalitis due to acquired toxoplasmosis
has_exact_synonym: Meningoencephalitis due to acquired toxoplasmosis (disorder)
has_exact_synonym: Meningoencephalitis due to toxoplasmosis
has_exact_synonym: Toxoplasma encephalitis
has_exact_synonym: Toxoplasma encephalitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh
annotated source: cerebral toxoplasmosis
annotated property: definition

Axiom
annotated target: Encephalitis due to acquired toxoplasmosis
database_cross_reference: MTHICD9_2006:130.0
annotated source: cerebral toxoplasmosis
annotated property: has_exact_synonym

Axiom
annotated target: Meningoencephalitis due to acquired toxoplasmosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:17949000
annotated source: cerebral toxoplasmosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187193005
annotated target: Toxoplasma encephalitis
annotated source: cerebral toxoplasmosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:192701001
annotated target: Toxoplasma encephalitis (disorder)
annotated source: cerebral toxoplasmosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:130.0
annotated target: Meningoencephalitis due to toxoplasmosis
annotated source: cerebral toxoplasmosis
annotated property: has_exact_synonym

meningoencephalitis
type: Class
subclass of: DOID 331
definition: A central nervous system disease that involves encephalitis which occurs along with meningitis.
id: DOID:10554
database_cross_reference: ICD10CM:A69.22
database_cross_reference: ICD10CM:G04
database_cross_reference: MSH:D008590
has_exact_synonym: Meningoencephalitis (disorder)
database_cross_reference: NCI:C34813
database_cross_reference: SNOMEDCT_US_2015_03_01:7125002
database_cross_reference: UMLS_CUI:C0025309
has_obo_namespace: disease_ontology

Axiom
annotated target: A central nervous system disease that involves encephalitis which occurs along with meningitis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Encephalitis
annotated source: meningoencephalitis
annotated property: definition

Axiom
annotated target: Meningoencephalitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:7125002
annotated source: meningoencephalitis
annotated property: has_exact_synonym

supine hypotensive syndrome
type: Class
subclass of: DOID 178
definition: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
has_alternative_id: DOID:10555
id: DOID:10556
has_alternative_id: DOID:12413
database_cross_reference: ICD9CM:669.20
database_cross_reference: UMLS_CUI:C0157456
has_exact_synonym: antepartum maternal hypotension syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: postpartum maternal hypotension syndrome

Axiom
annotated target: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/22537582
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/8164943
annotated source: supine hypotensive syndrome
annotated property: definition

maternal distress
type: Class
id: DOID:10557
has_obo_namespace: disease_ontology
deprecated: true

oculocerebrorenal syndrome
type: Class
subclass of: X-linked disease
id: DOID:1056
database_cross_reference: ICD10CM:E72.03
has_exact_synonym: LOWE OCULOCEREBRORENAL SYNDROME
has_exact_synonym: Lowe syndrome (disorder)
database_cross_reference: MSH:D009800
database_cross_reference: NCI:C84940
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:309000
database_cross_reference: SNOMEDCT_US_2015_03_01:79385002
database_cross_reference: UMLS_CUI:C0028860
has_obo_namespace: disease_ontology
has_exact_synonym: oculocerebrorenal syndrome of Lowe

Axiom
database_cross_reference: CSP2005:1849-1861
annotated target: oculocerebrorenal syndrome of Lowe
annotated source: oculocerebrorenal syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Lowe syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:79385002
annotated source: oculocerebrorenal syndrome
annotated property: has_exact_synonym

yaws hyperkeratosis
type: Class
id: DOID:10561
has_obo_namespace: disease_ontology
has_exact_synonym: hyperkeratosis due to yaws
has_exact_synonym: hyperkeratosis of yaws (disorder)
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:53734002
annotated target: hyperkeratosis of yaws (disorder)
annotated source: yaws hyperkeratosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186967009
annotated target: hyperkeratosis due to yaws
annotated source: yaws hyperkeratosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:102.3
annotated target: hyperkeratosis due to yaws
annotated source: yaws hyperkeratosis
annotated property: has_exact_synonym

gangosa of yaws
type: Class
definition: A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue.
id: DOID:10564
has_exact_synonym: Gangosa
has_exact_synonym: Gangosa of yaws (disorder)
has_exact_synonym: Rhinopharyngitis mutilans
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: MTHICD9_2006:102.5
annotated target: Rhinopharyngitis mutilans
annotated source: gangosa of yaws
annotated property: has_exact_synonym

Axiom
annotated target: Gangosa of yaws (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:24078009
annotated source: gangosa of yaws
annotated property: has_exact_synonym

Axiom
annotated target: A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Yaws
annotated source: gangosa of yaws
annotated property: definition

Axiom
annotated target: Gangosa
database_cross_reference: ICD9CM_2006:102.5
annotated source: gangosa of yaws
annotated property: has_exact_synonym

late yaws
type: Class
subclass of: yaws
subclass of: DOID 37
definition: A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
has_alternative_id: DOID:10370
has_alternative_id: DOID:10562
id: DOID:10567
has_exact_synonym: Gummata and ulcers due to yaws
has_exact_synonym: Gummata of yaws
database_cross_reference: ICD10CM:A66.1
database_cross_reference: ICD10CM:A66.4
database_cross_reference: ICD9CM:102.1
database_cross_reference: ICD9CM:102.4
database_cross_reference: NCI:C41354
database_cross_reference: SNOMEDCT_US_2015_03_01:186968004
database_cross_reference: SNOMEDCT_US_2015_03_01:22071004
database_cross_reference: SNOMEDCT_US_2015_03_01:57186002
database_cross_reference: SNOMEDCT_US_2015_03_01:68556002
database_cross_reference: SNOMEDCT_US_2015_03_01:69008006
database_cross_reference: UMLS_CUI:C0153234
database_cross_reference: UMLS_CUI:C0276007
database_cross_reference: UMLS_CUI:C1517744
has_exact_synonym: Ulcers of yaws
has_exact_synonym: Yaws gummata and ulcers (disorder)
has_obo_namespace: disease_ontology
has_exact_synonym: gummatous frambeside
has_exact_synonym: multiple papillomata due to yaws and wet crab yaws
has_exact_synonym: nodular late yaws
has_exact_synonym: nodular late yaws (disorder)
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs316/en/
annotated source: late yaws
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:69008006
annotated target: nodular late yaws (disorder)
annotated source: late yaws
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186968004
annotated target: Yaws gummata and ulcers (disorder)
annotated source: late yaws
annotated property: has_exact_synonym

Axiom
annotated target: Gummata of yaws
database_cross_reference: SNOMEDCT_2005_07_31:22071004
annotated source: late yaws
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:57186002
annotated target: Ulcers of yaws
annotated source: late yaws
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:102.4
annotated target: nodular late yaws
annotated source: late yaws
annotated property: has_exact_synonym

Axiom
annotated target: Gummata and ulcers due to yaws
database_cross_reference: ICD9CM_2006:102.4
annotated source: late yaws
annotated property: has_exact_synonym

early yaws
type: Class
subclass of: yaws
definition: A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
has_alternative_id: DOID:10563
has_alternative_id: DOID:10565
id: DOID:10568
has_exact_synonym: Frambesia, initial or primary
database_cross_reference: ICD10CM:A66.0
database_cross_reference: ICD10CM:A66.6
database_cross_reference: ICD9CM:102.0
database_cross_reference: ICD9CM:102.6
has_exact_synonym: Initial frambesial ulcer (disorder)
has_exact_synonym: Initial lesion of yaws (disorder)
has_exact_synonym: Initial lesions of yaws
database_cross_reference: NCI:C41352
database_cross_reference: SNOMEDCT_US_2015_03_01:186969007
database_cross_reference: SNOMEDCT_US_2015_03_01:23191004
database_cross_reference: SNOMEDCT_US_2015_03_01:266147005
database_cross_reference: SNOMEDCT_US_2015_03_01:30283007
database_cross_reference: SNOMEDCT_US_2015_03_01:49442000
database_cross_reference: SNOMEDCT_US_2015_03_01:59227007
database_cross_reference: SNOMEDCT_US_2015_03_01:77912009
database_cross_reference: UMLS_CUI:C0275990
database_cross_reference: UMLS_CUI:C0275998
database_cross_reference: UMLS_CUI:C0343834
has_exact_synonym: bone and joint lesions due to yaws
has_exact_synonym: bone and joint yaws lesion
has_exact_synonym: bone and joint yaws lesions (disorder)
has_exact_synonym: chancre of yaws
has_obo_namespace: disease_ontology
has_exact_synonym: early yaws (disorder)
has_exact_synonym: primary frambesia
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: ICD9CM_2006:102.6
annotated target: bone and joint lesions due to yaws
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:77912009
annotated target: primary frambesia
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
annotated target: Initial lesion of yaws (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:49442000
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
annotated target: Initial frambesial ulcer (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:30283007
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
annotated target: A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs316/en/
annotated source: early yaws
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:102.0
annotated target: Initial lesions of yaws
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266147005
annotated target: bone and joint yaws lesions (disorder)
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:23191004
annotated target: early yaws (disorder)
annotated source: early yaws
annotated property: has_exact_synonym

Axiom
annotated target: Frambesia, initial or primary
database_cross_reference: MTHICD9_2006:102.0
annotated source: early yaws
annotated property: has_exact_synonym

myopathy of critical illness
type: Class
has_exact_synonym: Critical illness myopathy
id: DOID:10569
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Critical illness myopathy
database_cross_reference: ICD9CM_2006:359.81
annotated source: myopathy of critical illness
annotated property: has_exact_synonym

inborn amino acid transport disorder
type: Class
id: DOID:1057
has_obo_namespace: disease_ontology
deprecated: true

osteomalacia
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
id: DOID:10573
database_cross_reference: ICD9CM:268.2
database_cross_reference: MSH:D010018
database_cross_reference: NCI:C26838
database_cross_reference: NCI:C96867
database_cross_reference: SNOMEDCT_US_2015_03_01:154728003
database_cross_reference: SNOMEDCT_US_2015_03_01:190639009
database_cross_reference: SNOMEDCT_US_2015_03_01:190642003
database_cross_reference: SNOMEDCT_US_2015_03_01:4598005
database_cross_reference: UMLS_CUI:C0029442
has_obo_namespace: disease_ontology

Axiom
annotated target: A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
database_cross_reference: url:http://en.wikipedia.org/wiki/Osteomalacia
database_cross_reference: url:http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx
database_cross_reference: url:http://www.mayoclinic.com/health/osteomalacia/DS00935
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm
database_cross_reference: url:http://www.umm.edu/ency/article/000376.htm
database_cross_reference: url:http://www.wheelessonline.com/ortho/osteomalacia
annotated source: osteomalacia
annotated property: definition

vitamin D deficiency
type: Class
has_exact_synonym: Avitaminosis D
has_exact_synonym: Avitaminosis D NOS (disorder)
id: DOID:10574
has_exact_synonym: Unspecified vitamin D deficiency
has_exact_synonym: deficiency of vitamin D (disorder)
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: vitamin D deficiency
has_exact_synonym: vitamin D deficiency (disorder)

Axiom
database_cross_reference: CSP2005:2116-7610
annotated target: vitamin D deficiency
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:268.9
annotated target: Unspecified vitamin D deficiency
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
annotated target: Avitaminosis D NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:190649007
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154728003
annotated target: vitamin D deficiency
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:190639009
annotated target: vitamin D deficiency
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
annotated target: Avitaminosis D
database_cross_reference: MTHICD9_2006:268.9
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:34713006
annotated target: vitamin D deficiency (disorder)
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:124886009
annotated target: deficiency of vitamin D (disorder)
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:268
annotated target: vitamin D deficiency
annotated source: vitamin D deficiency
annotated property: has_exact_synonym

calcium metabolism disease
type: Class
subclass of: mineral metabolism disease
id: DOID:10575
database_cross_reference: ICD10CM:E83.5
database_cross_reference: ICD10CM:E83.50
database_cross_reference: ICD9CM:275.4
database_cross_reference: ICD9CM:275.40
database_cross_reference: MSH:D002128
database_cross_reference: SNOMEDCT_US_2015_03_01:190863003
database_cross_reference: SNOMEDCT_US_2015_03_01:190874007
database_cross_reference: SNOMEDCT_US_2015_03_01:267442002
database_cross_reference: SNOMEDCT_US_2015_03_01:71638002
database_cross_reference: UMLS_CUI:C0006705
has_obo_namespace: disease_ontology

leukodystrophy
type: Class
subclass of: DOID 1443
definition: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
id: DOID:10579
database_cross_reference: ICD9CM:330.0
database_cross_reference: NCI:C61253
database_cross_reference: SNOMEDCT_US_2015_03_01:192781003
database_cross_reference: SNOMEDCT_US_2015_03_01:192785007
database_cross_reference: SNOMEDCT_US_2015_03_01:5101009
database_cross_reference: UMLS_CUI:C0023520
has_obo_namespace: disease_ontology

Axiom
annotated target: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
database_cross_reference: url:http://en.wikipedia.org/wiki/Leukodystrophy
annotated source: leukodystrophy
annotated property: definition

amino acid transport disease
type: Class
id: DOID:1058
has_exact_synonym: Disturbances of amino-acid transport
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Disturbances of amino-acid transport
database_cross_reference: ICD9CM_2006:270.0
annotated source: amino acid transport disease
annotated property: has_exact_synonym

metachromatic leukodystrophy
type: Class
subclass of: DOID 1927
definition: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
id: DOID:10581
database_cross_reference: ICD10CM:E75.25
database_cross_reference: ICD10CM:E75.29
has_exact_synonym: MLD
database_cross_reference: MSH:D007966
database_cross_reference: NCI:C61251
database_cross_reference: OMIM:249900
database_cross_reference: OMIM:250100
database_cross_reference: ORDO:512
database_cross_reference: SNOMEDCT_US_2015_03_01:192784006
database_cross_reference: SNOMEDCT_US_2015_03_01:3621006
database_cross_reference: SNOMEDCT_US_2015_03_01:396338004
database_cross_reference: SNOMEDCT_US_2015_03_01:44359008
has_exact_synonym: Scholz cerebral sclerosis
database_cross_reference: UMLS_CUI:C0023522
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: arylsulfatase A deficiency
has_exact_synonym: deficiency of cerebroside-sulfatase
has_obo_namespace: disease_ontology
has_exact_synonym: sulfatide lipoidosis
in_subset: DO MGI slim

Axiom
annotated target: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
annotated source: metachromatic leukodystrophy
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:44359008
annotated target: Scholz cerebral sclerosis
annotated source: metachromatic leukodystrophy
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1849-5593
annotated target: sulfatide lipoidosis
annotated source: metachromatic leukodystrophy
annotated property: has_exact_synonym

Refsum disease
type: Class
subclass of: DOID 3146
id: DOID:10582
has_exact_synonym: HMSN type IV
has_exact_synonym: HSMN IV
has_exact_synonym: Heredopathia atactica polyneuritiformis
database_cross_reference: ICD10CM:G60.1
database_cross_reference: ICD9CM:356.3
database_cross_reference: MSH:D012035
database_cross_reference: NCI:C85043
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:266500
database_cross_reference: OMIM:266510
has_exact_synonym: Refsum's disease
database_cross_reference: SNOMEDCT_US_2015_03_01:25362006
database_cross_reference: UMLS_CUI:C0034960
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: CSP2005:2042-7949
annotated target: HMSN type IV
annotated source: Refsum disease
annotated property: has_exact_synonym

Axiom
annotated target: Heredopathia atactica polyneuritiformis
database_cross_reference: MTHICD9_2006:356.3
annotated source: Refsum disease
annotated property: has_exact_synonym

Axiom
annotated target: HSMN IV
database_cross_reference: SNOMEDCT_2005_07_31:25362006
annotated source: Refsum disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:356.3
annotated target: Refsum's disease
annotated source: Refsum disease
annotated property: has_exact_synonym

retinitis pigmentosa
type: Class
subclass of: DOID 8466
definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
id: DOID:10584
has_alternative_id: DOID:14742
database_cross_reference: ICD10CM:H35.52
database_cross_reference: MSH:C538365
database_cross_reference: MSH:D012174
database_cross_reference: NCI:C85045
database_cross_reference: OMIM:120970
database_cross_reference: OMIM:180100
database_cross_reference: OMIM:180104
database_cross_reference: OMIM:180105
database_cross_reference: OMIM:180210
database_cross_reference: OMIM:268000
database_cross_reference: OMIM:268025
database_cross_reference: OMIM:268060
database_cross_reference: OMIM:300029
database_cross_reference: OMIM:300424
database_cross_reference: OMIM:300605
database_cross_reference: OMIM:312600
database_cross_reference: OMIM:312612
database_cross_reference: OMIM:400004
database_cross_reference: OMIM:600059
database_cross_reference: OMIM:600105
database_cross_reference: OMIM:600132
database_cross_reference: OMIM:600138
database_cross_reference: OMIM:600852
database_cross_reference: OMIM:601414
database_cross_reference: OMIM:601718
database_cross_reference: OMIM:602594
database_cross_reference: OMIM:602772
database_cross_reference: OMIM:603809
database_cross_reference: OMIM:606068
database_cross_reference: OMIM:607921
database_cross_reference: OMIM:608133
database_cross_reference: OMIM:608380
database_cross_reference: OMIM:609913
database_cross_reference: OMIM:609923
database_cross_reference: OMIM:610282
database_cross_reference: OMIM:610359
database_cross_reference: OMIM:610599
database_cross_reference: OMIM:611131
database_cross_reference: OMIM:612095
database_cross_reference: OMIM:612165
database_cross_reference: OMIM:612572
database_cross_reference: OMIM:612712
database_cross_reference: OMIM:612943
database_cross_reference: OMIM:613194
database_cross_reference: OMIM:613428
database_cross_reference: OMIM:613464
database_cross_reference: OMIM:613575
database_cross_reference: OMIM:613581
database_cross_reference: OMIM:613582
database_cross_reference: OMIM:613617
database_cross_reference: OMIM:613731
database_cross_reference: OMIM:613750
database_cross_reference: OMIM:613756
database_cross_reference: OMIM:613758
database_cross_reference: OMIM:613767
database_cross_reference: OMIM:613769
database_cross_reference: OMIM:613794
database_cross_reference: OMIM:613801
database_cross_reference: OMIM:613810
database_cross_reference: OMIM:613827
database_cross_reference: OMIM:613861
database_cross_reference: OMIM:613862
database_cross_reference: OMIM:613983
database_cross_reference: OMIM:614180
database_cross_reference: OMIM:614181
database_cross_reference: OMIM:614494
database_cross_reference: OMIM:615233
database_cross_reference: OMIM:615434
database_cross_reference: OMIM:615565
database_cross_reference: OMIM:615725
database_cross_reference: OMIM:615780
database_cross_reference: OMIM:615922
database_cross_reference: ORDO:791
has_exact_synonym: RP

Axiom
annotated target: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
database_cross_reference: url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/
annotated source: retinitis pigmentosa
annotated property: definition

Axiom
database_cross_reference: CSP2005:1114-9526
annotated target: RP
annotated source: retinitis pigmentosa
annotated property: has_exact_synonym

hereditary and idiopathic peripheral neuropathy
type: Class
id: DOID:10585
has_obo_namespace: disease_ontology
deprecated: true

Krabbe disease
type: Class
subclass of: DOID 1927
id: DOID:10587
has_exact_synonym: Diffuse globoid body sclerosis
has_exact_synonym: GLOBOID CELL LEUKOENCEPHALOPATHY
has_exact_synonym: Galactosylceramide beta-galactosidase deficiency (disorder)
database_cross_reference: ICD10CM:E75.23
has_exact_synonym: Krabbe's disease
has_exact_synonym: Krabbe's leukodystrophy
database_cross_reference: MSH:D007965
database_cross_reference: NCI:C61254
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:245200
database_cross_reference: SNOMEDCT_US_2015_03_01:189979005
database_cross_reference: SNOMEDCT_US_2015_03_01:192782005
database_cross_reference: SNOMEDCT_US_2015_03_01:5710006
database_cross_reference: UMLS_CUI:C0023521
has_exact_synonym: beta galactocerebrosidase deficiency
has_obo_namespace: disease_ontology
has_exact_synonym: globoid cell leukodystrophy

Axiom
annotated target: Krabbe's disease
database_cross_reference: MTHICD9_2006:330.0
annotated source: Krabbe disease
annotated property: has_exact_synonym

Axiom
annotated target: Krabbe's leukodystrophy
database_cross_reference: SNOMEDCT_2005_07_31:5710006
annotated source: Krabbe disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1849-5536
annotated target: beta galactocerebrosidase deficiency
annotated source: Krabbe disease
annotated property: has_exact_synonym

Axiom
annotated target: Galactosylceramide beta-galactosidase deficiency (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:192782005
annotated source: Krabbe disease
annotated property: has_exact_synonym

Axiom
annotated target: Diffuse globoid body sclerosis
database_cross_reference: SNOMEDCT_2005_07_31:189979005
annotated source: Krabbe disease
annotated property: has_exact_synonym

adrenoleukodystrophy
type: Class
subclass of: leukodystrophy
definition: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
has_exact_synonym: ALD
has_exact_synonym: Adrenoleukodystrophy
has_exact_synonym: Bronze Schilder disease
id: DOID:10588
has_alternative_id: DOID:13451
has_exact_synonym: Encephalitis periaxialis concentrica
has_exact_synonym: Encephalitis periaxialis, Schilder's
database_cross_reference: ICD10CM:E71.52
database_cross_reference: ICD10CM:E71.529
database_cross_reference: ICD10CM:G37.0
database_cross_reference: ICD9CM:341.1
database_cross_reference: MSH:C538676
database_cross_reference: MSH:D000326
comment: MSH:D000326w added from NeuroDevNet [WAK].
database_cross_reference: MSH:D002549
database_cross_reference: NCI:C61252
database_cross_reference: NCI:C84670
database_cross_reference: OMIM:202370
database_cross_reference: OMIM:300100
database_cross_reference: SNOMEDCT_US_2015_03_01:155059003
database_cross_reference: SNOMEDCT_US_2015_03_01:192932009
database_cross_reference: SNOMEDCT_US_2015_03_01:267702006
database_cross_reference: SNOMEDCT_US_2015_03_01:44875002
database_cross_reference: SNOMEDCT_US_2015_03_01:49692006
database_cross_reference: SNOMEDCT_US_2015_03_01:65389002
has_exact_synonym: SUDANOPHILIC CEREBRAL SCLEROSIS
has_exact_synonym: Schilder disease
has_related_synonym: Schilder's disease
has_exact_synonym: Siemerling-Creutzfeldt Disease
database_cross_reference: UMLS_CUI:C0007795
database_cross_reference: UMLS_CUI:C0162309
has_exact_synonym: X-linked adrenoleukodystrophy
has_related_synonym: diffuse cerebral sclerosis of Schilder
has_exact_synonym: diffuse sclerosis
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155059003
annotated target: Schilder's disease
annotated source: adrenoleukodystrophy
annotated property: has_related_synonym

Axiom
database_cross_reference: CSP2005:2042-2215
annotated target: diffuse sclerosis
annotated source: adrenoleukodystrophy
annotated property: has_exact_synonym

Axiom
annotated target: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adrenoleukodystrophy
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/
annotated source: adrenoleukodystrophy
annotated property: definition

Axiom
annotated target: Encephalitis periaxialis, Schilder's
database_cross_reference: MTHICD9_2006:341.1
annotated source: adrenoleukodystrophy
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:277.86
annotated target: X-linked adrenoleukodystrophy
annotated source: adrenoleukodystrophy
annotated property: has_exact_synonym

Axiom
annotated target: Adrenoleukodystrophy
database_cross_reference: MSH:D000326
annotated source: adrenoleukodystrophy
annotated property: has_exact_synonym

Axiom
annotated target: ALD
database_cross_reference: CSP2005:4001-0003
annotated source: adrenoleukodystrophy
annotated property: has_exact_synonym

Axiom
annotated target: Encephalitis periaxialis concentrica
database_cross_reference: SNOMEDCT_2005_07_31:44875002
annotated source: adrenoleukodystrophy
annotated property: has_exact_synonym

intellectual disability
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
id: DOID:1059
has_exact_synonym: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
database_cross_reference: MSH:D008607
database_cross_reference: NCI:C84392
comment: OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: SNOMEDCT_US_2015_03_01:154978008
database_cross_reference: SNOMEDCT_US_2015_03_01:154979000
database_cross_reference: SNOMEDCT_US_2015_03_01:1855002
database_cross_reference: SNOMEDCT_US_2015_03_01:192157003
database_cross_reference: SNOMEDCT_US_2015_03_01:192557008
database_cross_reference: SNOMEDCT_US_2015_03_01:268732001
database_cross_reference: SNOMEDCT_US_2015_03_01:91138005
database_cross_reference: UMLS_CUI:C0025362
has_obo_namespace: disease_ontology
has_related_synonym: mental retardation

Axiom
annotated target: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
database_cross_reference: url:http://www.aamr.org/content_96.cfm?navID=20
database_cross_reference: url:http://www.nichcy.org/disabilities/specific/pages/intellectualdisability.aspx#WhatisID.aspx
annotated source: intellectual disability
annotated property: definition

mild pre-eclampsia
type: Class
subclass of: pre-eclampsia
definition: A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
id: DOID:10590
database_cross_reference: ICD9CM:642.40
database_cross_reference: UMLS_CUI:C0156664
has_obo_namespace: disease_ontology

Axiom
annotated target: A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
database_cross_reference: url:http://emedicine.medscape.com/article/1476919-overview
annotated source: mild pre-eclampsia
annotated property: definition

pre-eclampsia
type: Class
subclass of: hypertension
definition: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
id: DOID:10591
has_alternative_id: DOID:12684
database_cross_reference: ICD10CM:O13
database_cross_reference: ICD10CM:O14
database_cross_reference: ICD10CM:O14.9
database_cross_reference: ICD10CM:O14.90
database_cross_reference: MSH:D011225
database_cross_reference: MSH:D046110
database_cross_reference: NCI:C34943
database_cross_reference: NCI:C4371
database_cross_reference: NCI:C85021
database_cross_reference: OMIM:189800
database_cross_reference: OMIM:609402
database_cross_reference: OMIM:609403
database_cross_reference: OMIM:609404
database_cross_reference: OMIM:614592
database_cross_reference: ORDO:275555
database_cross_reference: SNOMEDCT_US_2015_03_01:15394000
database_cross_reference: SNOMEDCT_US_2015_03_01:156106005
database_cross_reference: SNOMEDCT_US_2015_03_01:156109003
database_cross_reference: SNOMEDCT_US_2015_03_01:156112000
database_cross_reference: SNOMEDCT_US_2015_03_01:198969004
database_cross_reference: SNOMEDCT_US_2015_03_01:198972006
database_cross_reference: SNOMEDCT_US_2015_03_01:198979002
database_cross_reference: SNOMEDCT_US_2015_03_01:199011002
database_cross_reference: SNOMEDCT_US_2015_03_01:237280005
database_cross_reference: SNOMEDCT_US_2015_03_01:267306006
database_cross_reference: SNOMEDCT_US_2015_03_01:267307002
database_cross_reference: SNOMEDCT_US_2015_03_01:288201007
database_cross_reference: SNOMEDCT_US_2015_03_01:30354006
database_cross_reference: SNOMEDCT_US_2015_03_01:308551004
database_cross_reference: SNOMEDCT_US_2015_03_01:398254007
database_cross_reference: SNOMEDCT_US_2015_03_01:46764007
database_cross_reference: SNOMEDCT_US_2015_03_01:48194001
database_cross_reference: SNOMEDCT_US_2015_03_01:6758009
database_cross_reference: UMLS_CUI:C0032914
database_cross_reference: UMLS_CUI:C0340274
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: gestational hypertension
has_exact_synonym: hypertension induced by pregnancy
has_exact_synonym: pre-eclamptic toxaemia
has_exact_synonym: preeclampsia
has_exact_synonym: preeclampsia/eclampsia
has_exact_synonym: pregnancy associated hypertension
has_exact_synonym: pregnancy toxemia
has_exact_synonym: proteinuric hypertension of pregnancy
has_exact_synonym: toxaemia of pregnancy
in_subset: DO MGI slim

Axiom
database_cross_reference: CSP2005:4001-0110
annotated target: preeclampsia
annotated source: pre-eclampsia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:199011002
annotated target: proteinuric hypertension of pregnancy
annotated source: pre-eclampsia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:46764007
annotated target: pre-eclamptic toxaemia
annotated source: pre-eclampsia
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:642.3
database_cross_reference: SNOMEDCT_2005_07_31:30354006
annotated target: gestational hypertension
annotated source: pre-eclampsia
annotated property: has_exact_synonym

Axiom
annotated target: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
database_cross_reference: PMID:24400024
database_cross_reference: url:http://en.wikipedia.org/wiki/Pre-eclampsia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/preeclampsia
annotated source: pre-eclampsia
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C4371
annotated target: pregnancy associated hypertension
annotated source: pre-eclampsia
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2404-7447
annotated target: pregnancy toxemia
annotated source: pre-eclampsia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:156106005
annotated target: toxaemia of pregnancy
annotated source: pre-eclampsia
annotated property: has_exact_synonym

idiopathic progressive polyneuropathy
type: Class
subclass of: DOID 1389
id: DOID:10593
database_cross_reference: ICD9CM:356.4
has_exact_synonym: Idiopathic progressive polyneuropathy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:193164007
database_cross_reference: SNOMEDCT_US_2015_03_01:33209009
database_cross_reference: UMLS_CUI:C0154756
has_obo_namespace: disease_ontology

Axiom
annotated target: Idiopathic progressive polyneuropathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:33209009
annotated source: idiopathic progressive polyneuropathy
annotated property: has_exact_synonym

idiopathic neuropathy
type: Class
id: DOID:10594
has_exact_synonym: Unspecified idiopathic peripheral neuropathy
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:356.9
annotated target: Unspecified idiopathic peripheral neuropathy
annotated source: idiopathic neuropathy
annotated property: has_exact_synonym

Charcot-Marie-Tooth disease
type: Class
subclass of: DOID 440
definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
has_exact_synonym: CMT - Charcot-Marie-Tooth disease
has_exact_synonym: Charcot Marie Tooth muscular atrophy
id: DOID:10595
database_cross_reference: ICD10CM:G60.0
database_cross_reference: ICD9CM:356.1
database_cross_reference: MSH:D002607
database_cross_reference: NCI:C75467
has_exact_synonym: Peroneal muscular atrophy
database_cross_reference: SNOMEDCT_US_2015_03_01:128202008
database_cross_reference: SNOMEDCT_US_2015_03_01:193158000
database_cross_reference: SNOMEDCT_US_2015_03_01:193162006
database_cross_reference: SNOMEDCT_US_2015_03_01:50548001
database_cross_reference: UMLS_CUI:C0007959
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:356.1
annotated target: Peroneal muscular atrophy
annotated source: Charcot-Marie-Tooth disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2042-7637
annotated target: Charcot Marie Tooth muscular atrophy
annotated source: Charcot-Marie-Tooth disease
annotated property: has_exact_synonym

Axiom
annotated target: CMT - Charcot-Marie-Tooth disease
database_cross_reference: SNOMEDCT_2005_07_31:193158000
annotated source: Charcot-Marie-Tooth disease
annotated property: has_exact_synonym

Axiom
annotated target: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
database_cross_reference: url:https://www.genome.gov/11009201
annotated source: Charcot-Marie-Tooth disease
annotated property: definition

gonococcal meningitis
type: Class
id: DOID:10597
has_exact_synonym: Gonococcal meningitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
annotated target: Gonococcal meningitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:151004
annotated source: gonococcal meningitis
annotated property: has_exact_synonym

pleural tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
subclass of: DOID 7
definition: An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
id: DOID:106
has_alternative_id: DOID:12624
database_cross_reference: ICD10CM:A15.6
database_cross_reference: ICD9CM:010.1
database_cross_reference: ICD9CM:012.0
database_cross_reference: ICD9CM:012.00
database_cross_reference: MSH:D014396
database_cross_reference: NCI:C26898
has_exact_synonym: Pearly disease (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:171699006
database_cross_reference: SNOMEDCT_US_2015_03_01:186172004
database_cross_reference: SNOMEDCT_US_2015_03_01:186182003
database_cross_reference: SNOMEDCT_US_2015_03_01:186183008
database_cross_reference: SNOMEDCT_US_2015_03_01:186186000
database_cross_reference: SNOMEDCT_US_2015_03_01:36379004
database_cross_reference: SNOMEDCT_US_2015_03_01:68706009
has_exact_synonym: Tuberculosis of Pleura
has_exact_synonym: Tuberculosis of pleura
has_exact_synonym: Tuberculosis of pleura (disorder)
has_exact_synonym: Tuberculosis of pleura (disorder) [Ambiguous]
has_exact_synonym: Tuberculous pleurisy
has_exact_synonym: Tuberculous pleurisy NOS (disorder)
has_exact_synonym: Tuberculous pleurisy, unspecified examination
has_exact_synonym: Tuberculous pleuritis (disorder)
database_cross_reference: UMLS_CUI:C0041326
database_cross_reference: UMLS_CUI:C0152531
has_obo_namespace: disease_ontology
has_exact_synonym: tuberculous pleurisy in primary progressive tuberculosis
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:68706009
annotated target: Tuberculosis of pleura (disorder) [Ambiguous]
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
annotated target: Pearly disease (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:170713008
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:012.0
annotated target: Tuberculosis of pleura
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186186000
annotated target: Tuberculous pleurisy NOS (disorder)
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:171699006
annotated target: Tuberculous pleuritis (disorder)
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
annotated target: An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/17426219
annotated source: pleural tuberculosis
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186182003
annotated target: Tuberculosis of pleura (disorder)
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:012.0
annotated target: Tuberculous pleurisy
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C26898
annotated target: Tuberculosis of Pleura
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:012.00
annotated target: Tuberculous pleurisy, unspecified examination
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186183008
annotated target: Tuberculosis of pleura
annotated source: pleural tuberculosis
annotated property: has_exact_synonym

Hartnup disease
type: Class
subclass of: DOID 9252
definition: An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
id: DOID:1060
database_cross_reference: ICD10CM:E72.02
database_cross_reference: MSH:D006250
database_cross_reference: NCI:C84748
has_exact_synonym: Neutral 1 amino acid transport defect (disorder)
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:234500
database_cross_reference: SNOMEDCT_US_2015_03_01:124208000
database_cross_reference: SNOMEDCT_US_2015_03_01:80902009
database_cross_reference: UMLS_CUI:C0018609
has_exact_synonym: deficiency of tryptophan oxygenase
has_obo_namespace: disease_ontology
has_exact_synonym: neutral amino acid transport defect

Axiom
annotated target: An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup
annotated source: Hartnup disease
annotated property: definition

Axiom
annotated target: Neutral 1 amino acid transport defect (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:80902009
annotated source: Hartnup disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:124208000
annotated target: deficiency of tryptophan oxygenase
annotated source: Hartnup disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1849-4235
annotated target: neutral amino acid transport defect
annotated source: Hartnup disease
annotated property: has_exact_synonym

chronic tic disorder
type: Class
subclass of: DOID 2769
definition: A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
id: DOID:10600
database_cross_reference: ICD10CM:F95.1
database_cross_reference: ICD9CM:307.22
database_cross_reference: MSH:D013981
database_cross_reference: SNOMEDCT_US_2015_03_01:192623005
database_cross_reference: UMLS_CUI:C0008701
has_exact_synonym: chronic motor or vocal tic disorder
has_obo_namespace: disease_ontology

Axiom
annotated target: A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
database_cross_reference: url:http://en.wikipedia.org/wiki/Tic_disorder
annotated source: chronic tic disorder
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:307.22
annotated target: chronic motor or vocal tic disorder
annotated source: chronic tic disorder
annotated property: has_exact_synonym

steatorrhea
type: Class
subclass of: DOID 5295
id: DOID:10602
has_exact_synonym: Fatty stool (finding)
database_cross_reference: MSH:D045602
database_cross_reference: NCI:C86917
database_cross_reference: SNOMEDCT_US_2015_03_01:197489007
database_cross_reference: SNOMEDCT_US_2015_03_01:266481005
database_cross_reference: SNOMEDCT_US_2015_03_01:27868004
database_cross_reference: SNOMEDCT_US_2015_03_01:66187002
database_cross_reference: UMLS_CUI:C0038238
has_obo_namespace: disease_ontology

Axiom
annotated target: Fatty stool (finding)
database_cross_reference: SNOMEDCT_2005_07_31:66187002
annotated source: steatorrhea
annotated property: has_exact_synonym

glucose intolerance
type: Class
subclass of: DOID 4195
id: DOID:10603
has_exact_synonym: Glucose: [intolerance] or [malabsorption]
database_cross_reference: ICD10CM:R73.09
database_cross_reference: MSH:D018149
has_exact_synonym: Malabsorption of glucose (disorder)
database_cross_reference: NCI:C34646
database_cross_reference: SNOMEDCT_US_2015_03_01:154720005
database_cross_reference: SNOMEDCT_US_2015_03_01:190752008
database_cross_reference: SNOMEDCT_US_2015_03_01:267426009
database_cross_reference: SNOMEDCT_US_2015_03_01:9414007
database_cross_reference: UMLS_CUI:C0271650
has_obo_namespace: disease_ontology

Axiom
annotated target: Glucose: [intolerance] or [malabsorption]
database_cross_reference: SNOMEDCT_2005_07_31:190752008
annotated source: glucose intolerance
annotated property: has_exact_synonym

Axiom
annotated target: Malabsorption of glucose (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:267426009
annotated source: glucose intolerance
annotated property: has_exact_synonym

lactose intolerance
type: Class
subclass of: DOID 2978
id: DOID:10604
database_cross_reference: ICD10CM:E73
database_cross_reference: ICD10CM:E73.9
has_exact_synonym: LM - Lactose malabsorption
database_cross_reference: MSH:D007787
database_cross_reference: NCI:C3154
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:223100
database_cross_reference: SNOMEDCT_US_2015_03_01:154736007
database_cross_reference: SNOMEDCT_US_2015_03_01:190750000
database_cross_reference: SNOMEDCT_US_2015_03_01:190757002
database_cross_reference: SNOMEDCT_US_2015_03_01:267425008
database_cross_reference: SNOMEDCT_US_2015_03_01:267497007
database_cross_reference: SNOMEDCT_US_2015_03_01:700094005
database_cross_reference: UMLS_CUI:C0022951
has_obo_namespace: disease_ontology

Axiom
annotated target: LM - Lactose malabsorption
database_cross_reference: SNOMEDCT_2005_07_31:190757002
annotated source: lactose intolerance
annotated property: has_exact_synonym

short bowel syndrome
type: Class
subclass of: DOID 5295
id: DOID:10605
database_cross_reference: MSH:D012778
database_cross_reference: NCI:C99059
database_cross_reference: SNOMEDCT_US_2015_03_01:204768009
database_cross_reference: SNOMEDCT_US_2015_03_01:235724004
database_cross_reference: SNOMEDCT_US_2015_03_01:26629001
database_cross_reference: UMLS_CUI:C0036992
has_exact_synonym: acquired short bowel syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: short gut syndrome

Axiom
database_cross_reference: CSP2005:0724-8009
annotated target: short gut syndrome
annotated source: short bowel syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:235724004
annotated target: acquired short bowel syndrome
annotated source: short bowel syndrome
annotated property: has_exact_synonym

blind loop syndrome
type: Class
subclass of: DOID 5295
definition: An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
has_exact_synonym: Bacterial overgrowth syndrome (disorder)
has_exact_synonym: Blind loop syndrome
has_exact_synonym: Blind loop syndrome (disorder)
id: DOID:10606
database_cross_reference: ICD10CM:K90.2
database_cross_reference: ICD9CM:579.2
database_cross_reference: MSH:D001765
database_cross_reference: NCI:C34431
database_cross_reference: SNOMEDCT_US_2015_03_01:66379009
database_cross_reference: SNOMEDCT_US_2015_03_01:77225009
database_cross_reference: UMLS_CUI:C0005750
has_obo_namespace: disease_ontology

Axiom
annotated target: Blind loop syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:77225009
annotated source: blind loop syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Bacterial overgrowth syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:66379009
annotated source: blind loop syndrome
annotated property: has_exact_synonym

Axiom
annotated target: An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
database_cross_reference: PMID:20572300
database_cross_reference: url:https://en.wikipedia.org/wiki/Blind_loop_syndrome
annotated source: blind loop syndrome
annotated property: definition

Axiom
annotated target: Blind loop syndrome
database_cross_reference: ICD9CM_2006:579.2
annotated source: blind loop syndrome
annotated property: has_exact_synonym

tropical sprue
type: Class
subclass of: DOID 5295
id: DOID:10607
database_cross_reference: ICD10CM:K90.1
database_cross_reference: ICD9CM:579.1
database_cross_reference: MSH:D013182
database_cross_reference: NCI:C45428
database_cross_reference: SNOMEDCT_US_2015_03_01:155846005
database_cross_reference: SNOMEDCT_US_2015_03_01:266547002
database_cross_reference: SNOMEDCT_US_2015_03_01:47384003
has_exact_synonym: Sprue - tropical
has_exact_synonym: Tropical steatorrhea
database_cross_reference: UMLS_CUI:C0038054
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:579.1
annotated target: Tropical steatorrhea
annotated source: tropical sprue
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266547002
annotated target: Sprue - tropical
annotated source: tropical sprue
annotated property: has_exact_synonym

celiac disease
type: Class
subclass of: autoimmune disease of gastrointestinal tract
definition: An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
id: DOID:10608
database_cross_reference: EFO:0001060
database_cross_reference: ICD10CM:K90.0
database_cross_reference: ICD9CM:579.0
database_cross_reference: MSH:D002446
database_cross_reference: NCI:C26714
database_cross_reference: OMIM:212750
database_cross_reference: OMIM:607202
database_cross_reference: OMIM:609753
database_cross_reference: OMIM:609754
database_cross_reference: OMIM:609755
database_cross_reference: OMIM:611598
database_cross_reference: OMIM:612005
database_cross_reference: OMIM:612006
database_cross_reference: OMIM:612007
database_cross_reference: OMIM:612008
database_cross_reference: OMIM:612009
database_cross_reference: OMIM:612011
database_cross_reference: OMIM:612110
database_cross_reference: ORDO:555
database_cross_reference: SNOMEDCT_US_2015_03_01:155842007
database_cross_reference: SNOMEDCT_US_2015_03_01:197477005
database_cross_reference: SNOMEDCT_US_2015_03_01:197481005
database_cross_reference: SNOMEDCT_US_2015_03_01:23829007
database_cross_reference: SNOMEDCT_US_2015_03_01:266478000
database_cross_reference: SNOMEDCT_US_2015_03_01:396331005
database_cross_reference: UMLS_CUI:C0007570
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: celiac sprue
has_exact_synonym: coeliac disease
has_obo_namespace: disease_ontology
has_exact_synonym: idiopathic steatorrhea
in_subset: DO MGI slim

Axiom
database_cross_reference: CSP2005:1248-3893
annotated target: celiac sprue
annotated source: celiac disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155842007
annotated target: coeliac disease
annotated source: celiac disease
annotated property: has_exact_synonym

Axiom
annotated target: An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
database_cross_reference: url:http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/
database_cross_reference: url:http://en.wikipedia.org/wiki/Coeliac_disease
database_cross_reference: url:http://www.celiac.org/
database_cross_reference: url:http://www.mayoclinic.com/health/celiac-disease/DS00319
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm
annotated source: celiac disease
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:579.0
annotated target: idiopathic steatorrhea
annotated source: celiac disease
annotated property: has_exact_synonym

rickets
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
id: DOID:10609
has_alternative_id: DOID:11672
database_cross_reference: ICD10CM:E55.0
database_cross_reference: ICD9CM:268.0
database_cross_reference: MSH:D012279
database_cross_reference: NCI:C26878
database_cross_reference: OMIM:264700
database_cross_reference: OMIM:277440
database_cross_reference: OMIM:600081
database_cross_reference: OMIM:600785
database_cross_reference: ORDO:289157
database_cross_reference: SNOMEDCT_US_2015_03_01:154728003
database_cross_reference: SNOMEDCT_US_2015_03_01:190639009
database_cross_reference: SNOMEDCT_US_2015_03_01:190640006
database_cross_reference: SNOMEDCT_US_2015_03_01:41345002
database_cross_reference: SNOMEDCT_US_2015_03_01:68295002
database_cross_reference: UMLS_CUI:C0035579
database_cross_reference: UMLS_CUI:C0221468
comment: Xref MGI.
has_exact_synonym: active rickets
has_obo_namespace: disease_ontology
has_exact_synonym: vitamin D hydroxylation-deficient rickets
has_exact_synonym: vitamin D-dependent rickets
in_subset: DO MGI slim

Axiom
annotated target: A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
database_cross_reference: url:http://emedicine.medscape.com/article/985510-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Rickets
database_cross_reference: url:http://www.mayoclinic.com/health/rickets/DS00813
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/26365554
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm
database_cross_reference: url:http://www.umm.edu/ency/article/000344.htm
database_cross_reference: url:https://en.wikipedia.org/wiki/Rickets#Types
annotated source: rickets
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:190640006
annotated target: active rickets
annotated source: rickets
annotated property: has_exact_synonym

renal aminoaciduria
type: Class
id: DOID:1061
has_obo_namespace: disease_ontology
has_exact_synonym: inborn renal aminoaciduria
deprecated: true

Axiom
database_cross_reference: CSP2005:1849-1462
annotated target: inborn renal aminoaciduria
annotated source: renal aminoaciduria
annotated property: has_exact_synonym

pancreatic steatorrhea
type: Class
subclass of: DOID 26
id: DOID:10610
database_cross_reference: ICD10CM:K90.3
database_cross_reference: ICD9CM:579.4
database_cross_reference: SNOMEDCT_US_2015_03_01:155845009
database_cross_reference: SNOMEDCT_US_2015_03_01:197487009
database_cross_reference: SNOMEDCT_US_2015_03_01:54576000
database_cross_reference: UMLS_CUI:C0152166
has_obo_namespace: disease_ontology
has_exact_synonym: pancreatic steatorrhea (disorder)
has_exact_synonym: pancreatic steatorrhea [dup] (disorder)
has_exact_synonym: pancreatic steatorrhoea

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:54576000
annotated target: pancreatic steatorrhea (disorder)
annotated source: pancreatic steatorrhea
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:197487009
annotated target: pancreatic steatorrhea [dup] (disorder)
annotated source: pancreatic steatorrhea
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155845009
annotated target: pancreatic steatorrhoea
annotated source: pancreatic steatorrhea
annotated property: has_exact_synonym

protein-losing enteropathy
type: Class
subclass of: DOID 5295
id: DOID:10611
has_exact_synonym: Enteropathy, exudative
has_exact_synonym: Exudative enteropathy (disorder)
database_cross_reference: MSH:D011504
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:226300
has_exact_synonym: Protein-losing enteropathy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:22542007
database_cross_reference: SNOMEDCT_US_2015_03_01:66972006
database_cross_reference: UMLS_CUI:C0033680
has_obo_namespace: disease_ontology

Axiom
annotated target: Enteropathy, exudative
database_cross_reference: MTHICD9_2006:579.8
annotated source: protein-losing enteropathy
annotated property: has_exact_synonym

Axiom
annotated target: Exudative enteropathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:22542007
annotated source: protein-losing enteropathy
annotated property: has_exact_synonym

Axiom
annotated target: Protein-losing enteropathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:66972006
annotated source: protein-losing enteropathy
annotated property: has_exact_synonym

allergic urticaria
type: Class
subclass of: DOID 1555
has_exact_synonym: Allergic urticaria (disorder)
id: DOID:10612
database_cross_reference: ICD10CM:L50.0
database_cross_reference: ICD9CM:708.0
database_cross_reference: SNOMEDCT_US_2015_03_01:156428000
database_cross_reference: SNOMEDCT_US_2015_03_01:201260002
database_cross_reference: SNOMEDCT_US_2015_03_01:40178009
database_cross_reference: UMLS_CUI:C0149526
has_obo_namespace: disease_ontology

Axiom
annotated target: Allergic urticaria (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:40178009
annotated source: allergic urticaria
annotated property: has_exact_synonym

acute gonococcal cervicitis
type: Class
subclass of: acute cervicitis
id: DOID:10615
has_exact_synonym: Gonococcal cervicitis (acute)
database_cross_reference: ICD9CM:098.15
database_cross_reference: SNOMEDCT_US_2015_03_01:20943002
database_cross_reference: UMLS_CUI:C0153195
has_exact_synonym: acute gonococcal cervicitis (disorder)
has_exact_synonym: acute gonorrhea of cervix
has_obo_namespace: disease_ontology

Axiom
annotated target: Gonococcal cervicitis (acute)
database_cross_reference: ICD9CM_2006:098.15
annotated source: acute gonococcal cervicitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:098.15
annotated target: acute gonorrhea of cervix
annotated source: acute gonococcal cervicitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:20943002
annotated target: acute gonococcal cervicitis (disorder)
annotated source: acute gonococcal cervicitis
annotated property: has_exact_synonym

acute cervicitis
type: Class
subclass of: DOID 2568
id: DOID:10616
database_cross_reference: NCI:C27056
database_cross_reference: SNOMEDCT_US_2015_03_01:19272000
database_cross_reference: UMLS_CUI:C0269061
has_exact_synonym: acute cervicitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:19272000
annotated target: acute cervicitis (disorder)
annotated source: acute cervicitis
annotated property: has_exact_synonym

lymph node cancer
type: Class
subclass of: lymphatic system cancer
subclass of: DOID 9942
definition: A lymphatic system cancer that is located_in the lymph node.
has_alternative_id: DOID:10438
id: DOID:10619
database_cross_reference: NCI:C35497
database_cross_reference: SNOMEDCT_US_2015_03_01:127232002
database_cross_reference: UMLS_CUI:C0596869
has_obo_namespace: disease_ontology
has_exact_synonym: lymph node neoplasm
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: NCI2004_11_17:C35497
annotated target: lymph node neoplasm
annotated source: lymph node cancer
annotated property: has_exact_synonym

Axiom
annotated target: A lymphatic system cancer that is located_in the lymph node.
database_cross_reference: url:http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer
annotated source: lymph node cancer
annotated property: definition

Fanconi syndrome
type: Class
subclass of: DOID 447
definition: A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
has_exact_synonym: Congenital Fanconi syndrome (disorder)
id: DOID:1062
has_alternative_id: DOID:5956
has_exact_synonym: De Toni-Fanconi syndrome
has_exact_synonym: Fanconi-de Toni syndrome
has_exact_synonym: Fanconi-de-Toni syndrome
has_exact_synonym: Infantile nephropathic cystinosis (disorder)
has_exact_synonym: Lignac-Fanconi syndrome
database_cross_reference: MSH:D005198
database_cross_reference: NCI:C3034
database_cross_reference: NCI:C4377
database_cross_reference: OMIM:134600
database_cross_reference: OMIM:613388
database_cross_reference: OMIM:615605
database_cross_reference: ORDO:3337
database_cross_reference: SNOMEDCT_US_2015_03_01:236468006
database_cross_reference: SNOMEDCT_US_2015_03_01:40488004
database_cross_reference: SNOMEDCT_US_2015_03_01:44673006
database_cross_reference: UMLS_CUI:C0015624
database_cross_reference: UMLS_CUI:C0341703
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: adult Fanconi Anemia
has_exact_synonym: adult Fanconi syndrome
has_exact_synonym: deToni Fanconi syndrome
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: Fanconi-de Toni syndrome
database_cross_reference: MTHICD9_2006:270.0
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Congenital Fanconi syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:236466005
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Infantile nephropathic cystinosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:62332007
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
annotated target: De Toni-Fanconi syndrome
database_cross_reference: SNOMEDCT_2005_07_31:111398009
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4377
annotated target: adult Fanconi Anemia
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1849-2203
annotated target: deToni Fanconi syndrome
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
annotated target: A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fanconi_syndrome
database_cross_reference: url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm
annotated source: Fanconi syndrome
annotated property: definition

Axiom
annotated target: Lignac-Fanconi syndrome
database_cross_reference: SNOMEDCT_2005_07_31:367374009
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Fanconi-de-Toni syndrome
database_cross_reference: SNOMEDCT_2005_07_31:190683000
annotated source: Fanconi syndrome
annotated property: has_exact_synonym

Fissure of nipple associated with childbirth
type: Class
id: DOID:10621
has_obo_namespace: disease_ontology
deprecated: true

insulin dependent type diabetes mellitus uncontrolled with ketoacidosis
type: Class
id: DOID:10626
has_exact_synonym: Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis

Axiom
database_cross_reference: ICD9CM_2006:250.13
annotated target: type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis
annotated source: insulin dependent type diabetes mellitus uncontrolled with ketoacidosis
annotated property: has_exact_synonym

Axiom
annotated target: Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis
database_cross_reference: MTHICD9_2006:250.13
annotated source: insulin dependent type diabetes mellitus uncontrolled with ketoacidosis
annotated property: has_exact_synonym

primary optic atrophy
type: Class
subclass of: DOID 5723
id: DOID:10627
database_cross_reference: ICD10CM:H47.21
database_cross_reference: ICD9CM:377.11
database_cross_reference: SNOMEDCT_US_2015_03_01:21098003
database_cross_reference: UMLS_CUI:C0155291
has_obo_namespace: disease_ontology
has_exact_synonym: primary optic atrophy (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:21098003
annotated target: primary optic atrophy (disorder)
annotated source: primary optic atrophy
annotated property: has_exact_synonym

microphthalmia
type: Class
subclass of: DOID 5614
definition: An eye disease where one or both eyeballs are abnormally small.
id: DOID:10629
has_alternative_id: DOID:10650
database_cross_reference: ICD10CM:Q11.2
database_cross_reference: ICD9CM:743.1
database_cross_reference: ICD9CM:743.10
database_cross_reference: ICD9CM:743.11
database_cross_reference: MSH:D008850
database_cross_reference: NCI:C98989
database_cross_reference: OMIM:206900
database_cross_reference: OMIM:300166
database_cross_reference: OMIM:309801
database_cross_reference: OMIM:600165
database_cross_reference: OMIM:601186
database_cross_reference: OMIM:607932
database_cross_reference: OMIM:609549
database_cross_reference: OMIM:610093
database_cross_reference: OMIM:610125
database_cross_reference: OMIM:611038
database_cross_reference: OMIM:611040
database_cross_reference: OMIM:611897
database_cross_reference: OMIM:613094
database_cross_reference: OMIM:613704
database_cross_reference: OMIM:615972
database_cross_reference: ORDO:35612
database_cross_reference: SNOMEDCT_US_2015_03_01:156902006
database_cross_reference: SNOMEDCT_US_2015_03_01:204104003
database_cross_reference: SNOMEDCT_US_2015_03_01:204107005
database_cross_reference: SNOMEDCT_US_2015_03_01:204108000
database_cross_reference: SNOMEDCT_US_2015_03_01:204110003
database_cross_reference: SNOMEDCT_US_2015_03_01:268310007
database_cross_reference: SNOMEDCT_US_2015_03_01:61142002
database_cross_reference: UMLS_CUI:C0026010
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: microphthalmos
has_exact_synonym: nanophthalmia
has_exact_synonym: nanophthalmos
has_exact_synonym: simple microphthalmos
in_subset: DO MGI slim

Axiom
annotated target: An eye disease where one or both eyeballs are abnormally small.
database_cross_reference: url:http://en.wikipedia.org/wiki/Microphthalmia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/microphthalmia
annotated source: microphthalmia
annotated property: definition

interstitial nephritis
type: Class
subclass of: nephritis
id: DOID:1063
database_cross_reference: ICD10CM:N10-N16
database_cross_reference: ICD10CM:N12
database_cross_reference: ICD10CM:N15.9
database_cross_reference: MSH:D009395
database_cross_reference: NCI:C26834
database_cross_reference: SNOMEDCT_US_2015_03_01:198506002
database_cross_reference: SNOMEDCT_US_2015_03_01:264536006
database_cross_reference: SNOMEDCT_US_2015_03_01:28689008
database_cross_reference: UMLS_CUI:C0027707
has_obo_namespace: disease_ontology
has_exact_synonym: renal tubulo-interstitial disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198506002
annotated target: renal tubulo-interstitial disease
annotated source: interstitial nephritis
annotated property: has_exact_synonym

optic atrophy associated with retinal dystrophy
type: Class
id: DOID:10630
has_obo_namespace: disease_ontology
has_exact_synonym: optic atrophy associated with retinal dystrophies
has_exact_synonym: optic atrophy associated with retinal dystrophy (disorder)
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:19448008
annotated target: optic atrophy associated with retinal dystrophy (disorder)
annotated source: optic atrophy associated with retinal dystrophy
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:377.13
annotated target: optic atrophy associated with retinal dystrophies
annotated source: optic atrophy associated with retinal dystrophy
annotated property: has_exact_synonym

partial optic atrophy
type: Class
subclass of: DOID 5723
id: DOID:10631
database_cross_reference: ICD9CM:377.15
has_exact_synonym: Partial optic atrophy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:111527005
database_cross_reference: SNOMEDCT_US_2015_03_01:194044005
database_cross_reference: UMLS_CUI:C0155295
has_obo_namespace: disease_ontology

Axiom
annotated target: Partial optic atrophy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:111527005
annotated source: partial optic atrophy
annotated property: has_exact_synonym

Wolfram syndrome
type: Class
subclass of: autosomal recessive disease
definition: An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).
has_exact_synonym: DIDMOAD
id: DOID:10632
has_exact_synonym: Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)
database_cross_reference: MSH:D014929
database_cross_reference: NCI:C35133
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:222300
database_cross_reference: OMIM:604928
database_cross_reference: SNOMEDCT_US_2015_03_01:70694009
database_cross_reference: UMLS_CUI:C0043207
has_obo_namespace: disease_ontology

Axiom
annotated target: Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:70694009
annotated source: Wolfram syndrome
annotated property: has_exact_synonym

Axiom
annotated target: An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).
database_cross_reference: url:http://en.wikipedia.org/wiki/Wolfram_syndrome
database_cross_reference: url:http://omim.org/entry/222300
annotated source: Wolfram syndrome
annotated property: definition

cystinosis
type: Class
subclass of: DOID 3211
definition: A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17.
has_exact_synonym: Cystine storage disease
has_exact_synonym: Cystinosis (disorder)
has_exact_synonym: Cystinosis (disorder) [Ambiguous]
has_exact_synonym: Cystinosis [dup] (disorder)
id: DOID:1064
database_cross_reference: ICD10CM:E72.04
database_cross_reference: MSH:D003554
database_cross_reference: NCI:C2976
database_cross_reference: OMIM:219750
database_cross_reference: OMIM:219800
database_cross_reference: OMIM:219990
database_cross_reference: ORDO:213
database_cross_reference: SNOMEDCT_US_2015_03_01:111398009
database_cross_reference: SNOMEDCT_US_2015_03_01:190681003
database_cross_reference: SNOMEDCT_US_2015_03_01:190683000
database_cross_reference: SNOMEDCT_US_2015_03_01:367374009
database_cross_reference: SNOMEDCT_US_2015_03_01:62332007
database_cross_reference: UMLS_CUI:C2931187
has_exact_synonym: cystine storage disease
has_obo_namespace: disease_ontology

Axiom
annotated target: Cystinosis [dup] (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:367374009
annotated source: cystinosis
annotated property: has_exact_synonym

Axiom
annotated target: Cystine storage disease
database_cross_reference: SNOMEDCT_2005_07_31:190683000
annotated source: cystinosis
annotated property: has_exact_synonym

Axiom
annotated target: Cystinosis (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:111398009
annotated source: cystinosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1849-0607
annotated target: cystine storage disease
annotated source: cystinosis
annotated property: has_exact_synonym

Axiom
annotated target: A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17.
database_cross_reference: PMID:12110740
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/cystinosis
database_cross_reference: url:https://en.wikipedia.org/wiki/Cystinosis
annotated source: cystinosis
annotated property: definition

Axiom
annotated target: Cystinosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:190681003
annotated source: cystinosis
annotated property: has_exact_synonym

chronic state latent schizophrenia with acute exacerbation
type: Class
id: DOID:10645
has_obo_namespace: disease_ontology
deprecated: true

schizotypal personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
id: DOID:10646
database_cross_reference: ICD10CM:F21
database_cross_reference: ICD9CM:301.22
database_cross_reference: MSH:D012569
database_cross_reference: NCI:C92632
database_cross_reference: SNOMEDCT_US_2015_03_01:231486008
database_cross_reference: SNOMEDCT_US_2015_03_01:31027006
database_cross_reference: UMLS_CUI:C0036363
has_obo_namespace: disease_ontology

Axiom
annotated target: A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder
annotated source: schizotypal personality disorder
annotated property: definition

acute inferoposterior infarction
type: Class
subclass of: DOID 9408
id: DOID:10648
database_cross_reference: ICD9CM:410.30
database_cross_reference: UMLS_CUI:C0155640
has_obo_namespace: disease_ontology

acute inferolateral myocardial infarction
type: Class
subclass of: DOID 9408
id: DOID:10649
database_cross_reference: ICD9CM:410.20
database_cross_reference: UMLS_CUI:C0155636
has_obo_namespace: disease_ontology

acute anterolateral myocardial infarction
type: Class
subclass of: DOID 9408
id: DOID:10651
database_cross_reference: ICD9CM:410.0
database_cross_reference: SNOMEDCT_US_2015_03_01:70211005
database_cross_reference: UMLS_CUI:C0155627
has_obo_namespace: disease_ontology

Alzheimer's disease
type: Class
subclass of: DOID 680
definition: A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
has_exact_synonym: AD
has_exact_synonym: Alzheimer disease
has_related_synonym: Alzheimer disease, familial
has_exact_synonym: Alzheimers dementia
id: DOID:10652
database_cross_reference: EFO:0000249
database_cross_reference: ICD10CM:G30
database_cross_reference: ICD10CM:G30.9
database_cross_reference: ICD9CM:331.0
database_cross_reference: KEGG:05010
database_cross_reference: MSH:D000544
database_cross_reference: NCI:C2866
database_cross_reference: OMIM:104300
database_cross_reference: OMIM:104310
database_cross_reference: OMIM:300756
database_cross_reference: OMIM:502500
database_cross_reference: OMIM:602096
database_cross_reference: OMIM:604154
database_cross_reference: OMIM:605526
database_cross_reference: OMIM:606187
database_cross_reference: OMIM:606889
database_cross_reference: OMIM:607116
database_cross_reference: OMIM:607822
database_cross_reference: OMIM:608907
database_cross_reference: OMIM:609636
database_cross_reference: OMIM:609790
database_cross_reference: OMIM:611073
database_cross_reference: OMIM:611152
database_cross_reference: OMIM:611154
database_cross_reference: OMIM:611155
database_cross_reference: OMIM:615080
database_cross_reference: OMIM:615590
database_cross_reference: OMIM:615711
database_cross_reference: SNOMEDCT_US_2015_03_01:154998003
database_cross_reference: SNOMEDCT_US_2015_03_01:267688001
database_cross_reference: SNOMEDCT_US_2015_03_01:26929004
database_cross_reference: SNOMEDCT_US_2015_03_01:73768007
database_cross_reference: UMLS_CUI:C0002395
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: AD
database_cross_reference: CSP2005:0485-6737
annotated source: Alzheimer's disease
annotated property: has_exact_synonym

Axiom
annotated target: Alzheimers dementia
database_cross_reference: NCI2004_11_17:C2866
annotated source: Alzheimer's disease
annotated property: has_exact_synonym

Axiom
annotated target: A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
database_cross_reference: ls:IEDB
database_cross_reference: url:http://en.wikipedia.org/wiki/Alzheimer%27s_disease
database_cross_reference: url:http://www.merriam-webster.com/medical/alzheimer%27s%20disease
database_cross_reference: url:http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet
annotated source: Alzheimer's disease
annotated property: definition

Axiom
annotated target: Alzheimer disease, familial
database_cross_reference: MSH:C536597
annotated source: Alzheimer's disease
annotated property: has_related_synonym

lipoma of colon
type: Class
subclass of: DOID 6460
has_exact_synonym: Colonic Lipoma
id: DOID:10655
database_cross_reference: NCI:C5493
database_cross_reference: UMLS_CUI:C0940607
has_obo_namespace: disease_ontology

Axiom
annotated target: Colonic Lipoma
database_cross_reference: NCI2004_11_17:C5493
annotated source: lipoma of colon
annotated property: has_exact_synonym

colon leiomyoma
type: Class
subclass of: DOID 5143
has_exact_synonym: Colonic leiomyoma
id: DOID:10656
database_cross_reference: NCI:C5492
database_cross_reference: UMLS_CUI:C1333092
has_obo_namespace: disease_ontology

Axiom
annotated target: Colonic leiomyoma
database_cross_reference: NCI2004_11_17:C5492
annotated source: colon leiomyoma
annotated property: has_exact_synonym

colonic lymphangioma
type: Class
subclass of: DOID 1475
subclass of: DOID 235
has_exact_synonym: Colonic Lymphangioma
id: DOID:10657
has_exact_synonym: Lymphangioma of colon
database_cross_reference: NCI:C5500
database_cross_reference: UMLS_CUI:C1333094
has_obo_namespace: disease_ontology

Axiom
annotated target: Colonic Lymphangioma
database_cross_reference: NCI2004_11_17:C5500
annotated source: colonic lymphangioma
annotated property: has_exact_synonym

colonic ganglioneuroma
type: Class
id: DOID:10659
has_obo_namespace: disease_ontology
deprecated: true

residual stage of open angle glaucoma
type: Class
subclass of: open-angle glaucoma
id: DOID:1066
database_cross_reference: ICD10CM:H40.15
database_cross_reference: ICD9CM:365.15
has_exact_synonym: Open-angle glaucoma residual stage (disorder)
has_exact_synonym: Residual stage of open angle glaucoma (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:193542007
database_cross_reference: SNOMEDCT_US_2015_03_01:66990007
database_cross_reference: UMLS_CUI:C0154944
has_obo_namespace: disease_ontology

Axiom
annotated target: Open-angle glaucoma residual stage (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193542007
annotated source: residual stage of open angle glaucoma
annotated property: has_exact_synonym

Axiom
annotated target: Residual stage of open angle glaucoma (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:66990007
annotated source: residual stage of open angle glaucoma
annotated property: has_exact_synonym

mediastinum neuroblastoma
type: Class
subclass of: DOID 4691
subclass of: DOID 769
definition: A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
id: DOID:10660
database_cross_reference: NCI:C6628
database_cross_reference: UMLS_CUI:C1334673
has_obo_namespace: disease_ontology
has_exact_synonym: neuroblastoma of mediastinum
in_subset: DO cancer slim

Axiom
annotated target: A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45418
annotated source: mediastinum neuroblastoma
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C6628
annotated target: neuroblastoma of mediastinum
annotated source: mediastinum neuroblastoma
annotated property: has_exact_synonym

mediastinum ganglioneuroblastoma
type: Class
subclass of: mediastinum neuroblastoma
subclass of: DOID 4163
id: DOID:10661
has_exact_synonym: Ganglioneuroblastoma of mediastinum
database_cross_reference: NCI:C6627
database_cross_reference: UMLS_CUI:C1334653
has_obo_namespace: disease_ontology

Axiom
annotated target: Ganglioneuroblastoma of mediastinum
database_cross_reference: NCI2004_11_17:C6627
annotated source: mediastinum ganglioneuroblastoma
annotated property: has_exact_synonym

open-angle glaucoma
type: Class
subclass of: DOID 1686
definition: A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
id: DOID:1067
database_cross_reference: EFO:0004190
database_cross_reference: ICD10CM:H40.1
database_cross_reference: ICD10CM:H40.10
database_cross_reference: ICD10CM:H40.13
database_cross_reference: ICD9CM:365.1
database_cross_reference: ICD9CM:365.10
database_cross_reference: ICD9CM:365.13
database_cross_reference: MSH:D005902
database_cross_reference: NCI:C34641
database_cross_reference: OMIM:137750
database_cross_reference: OMIM:177700
database_cross_reference: OMIM:601682
database_cross_reference: OMIM:602429
database_cross_reference: OMIM:603383
database_cross_reference: OMIM:606689
database_cross_reference: OMIM:608695
database_cross_reference: OMIM:608696
database_cross_reference: OMIM:609745
database_cross_reference: OMIM:609887
database_cross_reference: OMIM:610535
database_cross_reference: OMIM:611274
database_cross_reference: OMIM:611276
database_cross_reference: OMIM:613100
database_cross_reference: SNOMEDCT_US_2015_03_01:111513000
database_cross_reference: SNOMEDCT_US_2015_03_01:193538009
database_cross_reference: SNOMEDCT_US_2015_03_01:193539001
database_cross_reference: SNOMEDCT_US_2015_03_01:193543002
database_cross_reference: SNOMEDCT_US_2015_03_01:46168003
database_cross_reference: SNOMEDCT_US_2015_03_01:84494001
database_cross_reference: UMLS_CUI:C0017612
has_exact_synonym: Wide-angle glaucoma NOS
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: glaucoma simplex
has_exact_synonym: open angle glaucoma
has_exact_synonym: pigmentary glaucoma
in_subset: DO MGI slim

Axiom
database_cross_reference: ICD9CM_2006:365.13
database_cross_reference: SNOMEDCT_2005_07_31:193539001
annotated target: pigmentary glaucoma
annotated source: open-angle glaucoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C34641
annotated target: open angle glaucoma
annotated source: open-angle glaucoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:111513000
annotated target: glaucoma simplex
annotated source: open-angle glaucoma
annotated property: has_exact_synonym

Axiom
annotated target: A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
database_cross_reference: url:http://en.wikipedia.org/wiki/Glaucoma
database_cross_reference: url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html
annotated source: open-angle glaucoma
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:365.10
annotated target: Wide-angle glaucoma NOS
annotated source: open-angle glaucoma
annotated property: has_exact_synonym

juvenile glaucoma
type: Class
subclass of: open-angle glaucoma
id: DOID:1068
has_exact_synonym: Glaucoma of childhood
has_exact_synonym: Glaucoma of childhood (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: Glaucoma of childhood
database_cross_reference: ICD9CM_2006:365.14
annotated source: juvenile glaucoma
annotated property: has_exact_synonym

Axiom
annotated target: Glaucoma of childhood
database_cross_reference: SNOMEDCT_2005_07_31:193541000
annotated source: juvenile glaucoma
annotated property: has_exact_synonym

Axiom
annotated target: Glaucoma of childhood (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:71111008
annotated source: juvenile glaucoma
annotated property: has_exact_synonym

separation anxiety disorder
type: Class
subclass of: DOID 2030
definition: An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
id: DOID:10685
has_obo_namespace: disease_ontology

Axiom
annotated target: An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
database_cross_reference: url:http://en.wikipedia.org/wiki/Separation_anxiety_disorder
annotated source: separation anxiety disorder
annotated property: definition

lactocele
type: Class
subclass of: breast cyst
id: DOID:10686
has_exact_synonym: Galactocele
database_cross_reference: ICD10CM:N64.89
database_cross_reference: ICD9CM:611.5
has_exact_synonym: Lactocele (disorder)
database_cross_reference: MSH:C535998
database_cross_reference: NCI:C3515
database_cross_reference: SNOMEDCT_US_2015_03_01:155966000
database_cross_reference: SNOMEDCT_US_2015_03_01:266647006
database_cross_reference: SNOMEDCT_US_2015_03_01:42385006
database_cross_reference: UMLS_CUI:C0152243
has_obo_namespace: disease_ontology

Axiom
annotated target: Lactocele (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:42385006
annotated source: lactocele
annotated property: has_exact_synonym

Axiom
annotated target: Galactocele
database_cross_reference: ICD9CM_2006:611.5
annotated source: lactocele
annotated property: has_exact_synonym

Axiom
annotated target: Galactocele
database_cross_reference: NCI2004_11_17:C3515
annotated source: lactocele
annotated property: has_exact_synonym

hypertrophy of breast
type: Class
subclass of: DOID 3463
id: DOID:10688
database_cross_reference: ICD10CM:N62
database_cross_reference: ICD9CM:611.1
database_cross_reference: NCI:C3125
database_cross_reference: SNOMEDCT_US_2015_03_01:155963008
database_cross_reference: SNOMEDCT_US_2015_03_01:198114003
database_cross_reference: SNOMEDCT_US_2015_03_01:266646002
database_cross_reference: SNOMEDCT_US_2015_03_01:372281005
database_cross_reference: SNOMEDCT_US_2015_03_01:43336006
database_cross_reference: UMLS_CUI:C0020565
has_exact_synonym: breasts enlarged
has_obo_namespace: disease_ontology
has_exact_synonym: large breast

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:43336006
annotated target: breasts enlarged
annotated source: hypertrophy of breast
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:248809000
annotated target: large breast
annotated source: hypertrophy of breast
annotated property: has_exact_synonym

galactorrhea not associated with childbirth
type: Class
id: DOID:10689
has_exact_synonym: GALACTORRHEA
has_exact_synonym: Galactorrhea due to non-obstetric cause (disorder)
has_exact_synonym: Galactorrhea not associated with childbirth (disorder)
has_exact_synonym: Galactorrhoea
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Galactorrhoea
database_cross_reference: SNOMEDCT_2005_07_31:155965001
annotated source: galactorrhea not associated with childbirth
annotated property: has_exact_synonym

Axiom
annotated target: Galactorrhea not associated with childbirth (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:78622004
annotated source: galactorrhea not associated with childbirth
annotated property: has_exact_synonym

Axiom
annotated target: Galactorrhea due to non-obstetric cause (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:198115002
annotated source: galactorrhea not associated with childbirth
annotated property: has_exact_synonym

Axiom
annotated target: GALACTORRHEA
database_cross_reference: MTH:NOCODE
annotated source: galactorrhea not associated with childbirth
annotated property: has_exact_synonym

mastitis
type: Class
subclass of: DOID 3463
id: DOID:10690
has_exact_synonym: Inflammatory breast disease
has_exact_synonym: Inflammatory disease of breast
has_exact_synonym: Inflammatory disorder of breast (disorder)
database_cross_reference: MSH:D008413
database_cross_reference: SNOMEDCT_US_2015_03_01:155952005
database_cross_reference: SNOMEDCT_US_2015_03_01:155955007
database_cross_reference: SNOMEDCT_US_2015_03_01:198099006
database_cross_reference: SNOMEDCT_US_2015_03_01:266641007
database_cross_reference: SNOMEDCT_US_2015_03_01:266644004
database_cross_reference: SNOMEDCT_US_2015_03_01:45198002
database_cross_reference: UMLS_CUI:C0024894
has_exact_synonym: breast inflammation NOS
has_exact_synonym: breast inflammation NOS (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: Inflammatory disorder of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:266579006
annotated source: mastitis
annotated property: has_exact_synonym

Axiom
annotated target: Inflammatory breast disease
database_cross_reference: SNOMEDCT_2005_07_31:198099006
annotated source: mastitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:611.0
annotated target: Inflammatory disease of breast
annotated source: mastitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266644004
annotated target: breast inflammation NOS (disorder)
annotated source: mastitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155955007
annotated target: breast inflammation NOS
annotated source: mastitis
annotated property: has_exact_synonym

fat necrosis of breast
type: Class
subclass of: DOID 3463
id: DOID:10691
has_exact_synonym: Fat necrosis of breast
has_exact_synonym: Fat necrosis of breast (disorder)
database_cross_reference: ICD10CM:N64.1
database_cross_reference: ICD9CM:611.3
database_cross_reference: NCI:C3661
database_cross_reference: SNOMEDCT_US_2015_03_01:21381006
database_cross_reference: UMLS_CUI:C0156321
has_exact_synonym: breast Fat necrosis
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C3661
annotated target: breast Fat necrosis
annotated source: fat necrosis of breast
annotated property: has_exact_synonym

Axiom
annotated target: Fat necrosis of breast
database_cross_reference: ICD9CM_2006:611.3
annotated source: fat necrosis of breast
annotated property: has_exact_synonym

Axiom
annotated target: Fat necrosis of breast (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:21381006
annotated source: fat necrosis of breast
annotated property: has_exact_synonym

chronic endophthalmitis
type: Class
subclass of: DOID 9724
id: DOID:10697
database_cross_reference: ICD9CM:360.03
database_cross_reference: SNOMEDCT_US_2015_03_01:13978000
database_cross_reference: SNOMEDCT_US_2015_03_01:193269007
database_cross_reference: UMLS_CUI:C0154774
has_exact_synonym: chronic endophthalmitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:13978000
annotated target: chronic endophthalmitis (disorder)
annotated source: chronic endophthalmitis
annotated property: has_exact_synonym

paragonimiasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
id: DOID:10699
database_cross_reference: ICD10CM:B66.4
database_cross_reference: ICD9CM:121.2
has_exact_synonym: Infection by Paragonimus (disorder)
database_cross_reference: MSH:D010237
database_cross_reference: NCI:C84995
database_cross_reference: SNOMEDCT_US_2015_03_01:240807004
database_cross_reference: SNOMEDCT_US_2015_03_01:240808009
database_cross_reference: SNOMEDCT_US_2015_03_01:30369007
database_cross_reference: UMLS_CUI:C0030424
has_obo_namespace: disease_ontology
has_exact_synonym: lung fluke disease
has_exact_synonym: lung fluke infection
has_exact_synonym: pulmonary paragonimiasis

Axiom
annotated target: Infection by Paragonimus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:30369007
annotated source: paragonimiasis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:240808009
annotated target: pulmonary paragonimiasis
annotated source: paragonimiasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm
annotated source: paragonimiasis
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:121.2
annotated target: lung fluke disease
annotated source: paragonimiasis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:240807004
annotated target: lung fluke infection
annotated source: paragonimiasis
annotated property: has_exact_synonym

primary open angle glaucoma
type: Class
subclass of: open-angle glaucoma
id: DOID:1070
database_cross_reference: ICD10CM:H40.11
database_cross_reference: ICD9CM:365.11
database_cross_reference: MSH:C562750
database_cross_reference: NCI:C35394
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:137760
database_cross_reference: SNOMEDCT_US_2015_03_01:155122001
database_cross_reference: SNOMEDCT_US_2015_03_01:77075001
database_cross_reference: UMLS_CUI:C0339573
has_exact_synonym: chronic simple glaucoma
has_obo_namespace: disease_ontology

passive-aggressive personality disorder
type: Class
id: DOID:10708
has_exact_synonym: Passive-aggressive personality
has_obo_namespace: disease_ontology
has_related_synonym: passive-aggressive personality disorder
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:301.84
annotated target: Passive-aggressive personality
annotated source: passive-aggressive personality disorder
annotated property: has_exact_synonym

meningococcal septicemia
type: Class
id: DOID:10717
has_exact_synonym: Meningococcal septicaemia
has_exact_synonym: Meningococcemia
has_exact_synonym: Meningococcemia (disorder)
has_exact_synonym: Meningococcemia, unspecified (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: ICD9CM_2006:036.2
annotated target: Meningococcemia
annotated source: meningococcal septicemia
annotated property: has_exact_synonym

Axiom
annotated target: Meningococcemia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:4089001
annotated source: meningococcal septicemia
annotated property: has_exact_synonym

Axiom
annotated target: Meningococcemia, unspecified (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187326004
annotated source: meningococcal septicemia
annotated property: has_exact_synonym

Axiom
annotated target: Meningococcal septicaemia
database_cross_reference: SNOMEDCT_2005_07_31:154308000
annotated source: meningococcal septicemia
annotated property: has_exact_synonym

giardiasis
type: Class
subclass of: DOID 2789
definition: A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
id: DOID:10718
database_cross_reference: ICD10CM:A07.1
database_cross_reference: ICD9CM:007.1
has_exact_synonym: Infection by Giardia lamblia
database_cross_reference: MSH:D005873
database_cross_reference: SNOMEDCT_US_2015_03_01:10679007
database_cross_reference: SNOMEDCT_US_2015_03_01:154275004
database_cross_reference: SNOMEDCT_US_2015_03_01:186124000
database_cross_reference: SNOMEDCT_US_2015_03_01:266075009
database_cross_reference: SNOMEDCT_US_2015_03_01:266176008
database_cross_reference: SNOMEDCT_US_2015_03_01:58265007
database_cross_reference: UMLS_CUI:C0017536
has_exact_synonym: beaver feaver
has_obo_namespace: disease_ontology

Axiom
annotated target: Infection by Giardia lamblia
database_cross_reference: MTHICD9_2006:007.1
annotated source: giardiasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
database_cross_reference: url:http://en.wikipedia.org/wiki/Giardiasis
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm
annotated source: giardiasis
annotated property: definition

toxic diffuse goiter
type: Class
subclass of: DOID 7998
id: DOID:10719
database_cross_reference: ICD9CM:242.00
database_cross_reference: UMLS_CUI:C0154138
has_obo_namespace: disease_ontology

renal hypertension
type: Class
subclass of: secondary hypertension
id: DOID:1073
database_cross_reference: MSH:D006977
database_cross_reference: NCI:C3121
database_cross_reference: SNOMEDCT_US_2015_03_01:194775007
database_cross_reference: SNOMEDCT_US_2015_03_01:28119000
database_cross_reference: UMLS_CUI:C0020544
has_obo_namespace: disease_ontology

nodular lung tuberculosis
type: Class
definition: A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs.
id: DOID:10731
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf
annotated source: nodular lung tuberculosis
annotated property: definition

kidney failure
type: Class
subclass of: DOID 557
definition: A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
id: DOID:1074
database_cross_reference: ICD10CM:N19
database_cross_reference: ICD9CM:586
database_cross_reference: MSH:D051437
database_cross_reference: NCI:C4376
comment: PRISM.
database_cross_reference: SNOMEDCT_US_2015_03_01:156092003
database_cross_reference: SNOMEDCT_US_2015_03_01:197656003
database_cross_reference: SNOMEDCT_US_2015_03_01:198524000
database_cross_reference: SNOMEDCT_US_2015_03_01:266553002
database_cross_reference: SNOMEDCT_US_2015_03_01:266616000
database_cross_reference: SNOMEDCT_US_2015_03_01:42399005
database_cross_reference: UMLS_CUI:C0035078
has_obo_namespace: disease_ontology
has_exact_synonym: renal failure

Axiom
annotated target: A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
database_cross_reference: url:http://en.wikipedia.org/wiki/Renal_failure
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/kidneyfailure.html
annotated source: kidney failure
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198524000
annotated target: renal failure
annotated source: kidney failure
annotated property: has_exact_synonym

cerebral lipidosis
type: Class
subclass of: DOID 1443
has_exact_synonym: Cerebral lipidoses NOS (disorder)
has_exact_synonym: Cerebral lipidosis (disorder)
id: DOID:10742
database_cross_reference: ICD9CM:330.1
database_cross_reference: SNOMEDCT_US_2015_03_01:16517004
database_cross_reference: SNOMEDCT_US_2015_03_01:192786008
database_cross_reference: SNOMEDCT_US_2015_03_01:192789001
database_cross_reference: UMLS_CUI:C0007788
has_obo_namespace: disease_ontology

Axiom
annotated target: Cerebral lipidosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:16517004
annotated source: cerebral lipidosis
annotated property: has_exact_synonym

Axiom
annotated target: Cerebral lipidoses NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:192789001
annotated source: cerebral lipidosis
annotated property: has_exact_synonym

broad ligament malignant neoplasm
type: Class
subclass of: DOID_11747
id: DOID:10744
database_cross_reference: ICD10CM:C57.1
database_cross_reference: ICD9CM:183.3
database_cross_reference: SNOMEDCT_US_2015_03_01:188202001
database_cross_reference: SNOMEDCT_US_2015_03_01:449259009
database_cross_reference: SNOMEDCT_US_2015_03_01:93728003
database_cross_reference: UMLS_CUI:C0346866
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of broad ligament of uterus

Axiom
database_cross_reference: ICD9CM_2006:183.3
annotated target: malignant neoplasm of broad ligament of uterus
annotated source: broad ligament malignant neoplasm
annotated property: has_exact_synonym

lymphoid leukemia
type: Class
subclass of: lymphoblastic leukemia
id: DOID:10747
database_cross_reference: ICD9CM:204.2
database_cross_reference: SNOMEDCT_US_2015_03_01:154590001
database_cross_reference: SNOMEDCT_US_2015_03_01:188726003
database_cross_reference: SNOMEDCT_US_2015_03_01:190035004
database_cross_reference: SNOMEDCT_US_2015_03_01:33560006
database_cross_reference: SNOMEDCT_US_2015_03_01:95274002
database_cross_reference: UMLS_CUI:C0152271
has_obo_namespace: disease_ontology
has_exact_synonym: subacute lymphoid leukemia

chronic pyelonephritis with lesion of renal medullary necrosis
type: Class
id: DOID:1075
has_obo_namespace: disease_ontology
deprecated: true

otitis media
type: Class
subclass of: DOID 5100
definition: A otitis which involves inflammation of the middle ear.
id: DOID:10754
database_cross_reference: ICD10CM:H66.9
database_cross_reference: ICD10CM:H66.90
database_cross_reference: ICD9CM:382.9
database_cross_reference: MSH:D010033
database_cross_reference: NCI:C34885
database_cross_reference: SNOMEDCT_US_2015_03_01:155222006
database_cross_reference: SNOMEDCT_US_2015_03_01:194291009
database_cross_reference: SNOMEDCT_US_2015_03_01:267669008
database_cross_reference: SNOMEDCT_US_2015_03_01:65363002
database_cross_reference: UMLS_CUI:C0029882
has_obo_namespace: disease_ontology

Axiom
annotated target: A otitis which involves inflammation of the middle ear.
database_cross_reference: url:http://en.wikipedia.org/wiki/Otitis_media
annotated source: otitis media
annotated property: definition

petrositis
type: Class
subclass of: osteomyelitis
definition: An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone.
id: DOID:10755
has_alternative_id: DOID:14013
has_alternative_id: DOID:14014
database_cross_reference: ICD10CM:H70.2
database_cross_reference: ICD10CM:H70.20
database_cross_reference: ICD10CM:H70.209
database_cross_reference: ICD10CM:H70.21
database_cross_reference: ICD10CM:H70.219
database_cross_reference: ICD10CM:H70.22
database_cross_reference: ICD10CM:H70.229
database_cross_reference: ICD9CM:383.2
database_cross_reference: ICD9CM:383.20
database_cross_reference: ICD9CM:383.21
database_cross_reference: ICD9CM:383.22
database_cross_reference: MSH:D059270
database_cross_reference: SNOMEDCT_US_2015_03_01:155233009
database_cross_reference: SNOMEDCT_US_2015_03_01:194300003
database_cross_reference: SNOMEDCT_US_2015_03_01:194301004
database_cross_reference: SNOMEDCT_US_2015_03_01:267760001
database_cross_reference: SNOMEDCT_US_2015_03_01:28593007
database_cross_reference: SNOMEDCT_US_2015_03_01:34997001
database_cross_reference: SNOMEDCT_US_2015_03_01:51211002
database_cross_reference: UMLS_CUI:C0155448
database_cross_reference: UMLS_CUI:C0155449
database_cross_reference: UMLS_CUI:C0155450
has_exact_synonym: acute petrositis
has_exact_synonym: chronic petrositis
has_obo_namespace: disease_ontology
has_related_synonym: inflammation of petrous bone

Axiom
annotated target: An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone.
database_cross_reference: url:http://medical-dictionary.thefreedictionary.com/petrositis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm
annotated source: petrositis
annotated property: definition

chronic pyelonephritis
type: Class
subclass of: DOID_11400
id: DOID:1076
database_cross_reference: ICD10CM:N11
database_cross_reference: ICD10CM:N11.9
database_cross_reference: ICD9CM:590.0
database_cross_reference: SNOMEDCT_US_2015_03_01:123293005
database_cross_reference: SNOMEDCT_US_2015_03_01:155861006
database_cross_reference: SNOMEDCT_US_2015_03_01:197767009
database_cross_reference: SNOMEDCT_US_2015_03_01:266619007
database_cross_reference: SNOMEDCT_US_2015_03_01:63302006
database_cross_reference: UMLS_CUI:C0085697
has_obo_namespace: disease_ontology

choroidal rupture
type: Class
has_exact_synonym: Choroidal rupture (disorder)
id: DOID:10760
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Choroidal rupture (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:2532009
annotated source: choroidal rupture
annotated property: has_exact_synonym

portal hypertension
type: Class
subclass of: DOID 272
id: DOID:10762
database_cross_reference: ICD10CM:K76.6
database_cross_reference: ICD9CM:572.3
database_cross_reference: MSH:D006975
database_cross_reference: NCI:C3119
database_cross_reference: SNOMEDCT_US_2015_03_01:155821005
database_cross_reference: SNOMEDCT_US_2015_03_01:34742003
database_cross_reference: UMLS_CUI:C0020541
has_obo_namespace: disease_ontology

hypertension
type: Class
subclass of: artery disease
definition: An artery disease characterized by chronic elevated blood pressure in the arteries.
id: DOID:10763
database_cross_reference: EFO:0000537
has_exact_synonym: HTN
has_exact_synonym: High blood pressure (& [essential hypertension])
database_cross_reference: ICD10CM:I10
database_cross_reference: ICD10CM:I10-I15
database_cross_reference: ICD9CM:401-405.99
database_cross_reference: ICD9CM:997.91
database_cross_reference: MSH:D006973
database_cross_reference: NCI:C3117
database_cross_reference: SNOMEDCT_US_2015_03_01:155295004
database_cross_reference: SNOMEDCT_US_2015_03_01:155302005
database_cross_reference: SNOMEDCT_US_2015_03_01:194756002
database_cross_reference: SNOMEDCT_US_2015_03_01:194757006
database_cross_reference: SNOMEDCT_US_2015_03_01:194760004
database_cross_reference: SNOMEDCT_US_2015_03_01:194794002
database_cross_reference: SNOMEDCT_US_2015_03_01:195537001
database_cross_reference: SNOMEDCT_US_2015_03_01:266287006
database_cross_reference: SNOMEDCT_US_2015_03_01:38341003
database_cross_reference: UMLS_CUI:C0020538
has_obo_namespace: disease_ontology
has_exact_synonym: hyperpiesia
has_related_synonym: hypertensive disease
has_exact_synonym: vascular hypertensive disorder

Axiom
database_cross_reference: CSP2005:4003-0017
annotated target: hyperpiesia
annotated source: hypertension
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3117
annotated target: vascular hypertensive disorder
annotated source: hypertension
annotated property: has_exact_synonym

Axiom
annotated target: An artery disease characterized by chronic elevated blood pressure in the arteries.
database_cross_reference: PMID:24352797
database_cross_reference: url:https://en.wikipedia.org/wiki/Hypertension
annotated source: hypertension
annotated property: definition

Axiom
database_cross_reference: CSP2005:0571-5243
annotated target: HTN
annotated source: hypertension
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTH:NOCODE
annotated target: hypertensive disease
annotated source: hypertension
annotated property: has_related_synonym

Axiom
annotated target: High blood pressure (& [essential hypertension])
database_cross_reference: SNOMEDCT_2005_07_31:194757006
annotated source: hypertension
annotated property: has_exact_synonym

liver abscess and sequelae of chronic liver disease
type: Class
id: DOID:10764
has_obo_namespace: disease_ontology
deprecated: true

Spirurida infectious disease
type: Class
definition: A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida.
id: DOID:1077
has_alternative_id: DOID:11679
has_obo_namespace: disease_ontology
has_exact_synonym: filarial infectious disease and dracontiasis
deprecated: true

Axiom
annotated target: A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida.
database_cross_reference: url:http://en.wikipedia.org/wiki/Spirurida
annotated source: Spirurida infectious disease
annotated property: definition

thrombotic thrombocytopenic purpura
type: Class
subclass of: DOID 2452
id: DOID:10772
database_cross_reference: ICD10CM:M31.1
database_cross_reference: MSH:D011697
has_exact_synonym: Moschcowitz's syndrome
database_cross_reference: NCI:C78797
database_cross_reference: SNOMEDCT_US_2015_03_01:155443009
database_cross_reference: SNOMEDCT_US_2015_03_01:195358008
database_cross_reference: SNOMEDCT_US_2015_03_01:195359000
database_cross_reference: SNOMEDCT_US_2015_03_01:360402008
database_cross_reference: SNOMEDCT_US_2015_03_01:78129009
database_cross_reference: UMLS_CUI:C0034155
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:446.6
annotated target: Moschcowitz's syndrome
annotated source: thrombotic thrombocytopenic purpura
annotated property: has_exact_synonym

bubonic plague
type: Class
subclass of: DOID 3482
definition: A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration.
has_exact_synonym: Black death
has_exact_synonym: Bubonic plague
has_exact_synonym: Bubonic plague (disorder)
id: DOID:10773
database_cross_reference: ICD10CM:A20.0
database_cross_reference: ICD9CM:020.0
database_cross_reference: MSH:D010930
database_cross_reference: SNOMEDCT_US_2015_03_01:50797007
database_cross_reference: SNOMEDCT_US_2015_03_01:58750007
database_cross_reference: UMLS_CUI:C0282312
has_exact_synonym: black death
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: Bubonic plague
database_cross_reference: ICD9CM_2006:020.0
annotated source: bubonic plague
annotated property: has_exact_synonym

Axiom
annotated target: Black death
database_cross_reference: SNOMEDCT_2005_07_31:58750007
annotated source: bubonic plague
annotated property: has_exact_synonym

Axiom
annotated target: A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area
annotated source: bubonic plague
annotated property: definition

Axiom
annotated target: Bubonic plague (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:50797007
annotated source: bubonic plague
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0368-3331
annotated target: black death
annotated source: bubonic plague
annotated property: has_exact_synonym

cutaneous plague
type: Class
id: DOID:10774
has_exact_synonym: cellulocutaneous plague
has_exact_synonym: cellulocutaneous plague (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:43484003
annotated target: cellulocutaneous plague (disorder)
annotated source: cutaneous plague
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:020.1
annotated target: cellulocutaneous plague
annotated source: cutaneous plague
annotated property: has_exact_synonym

fiedler's myocarditis
type: Class
subclass of: DOID 3951
id: DOID:10778
database_cross_reference: ICD10CM:I40.1
database_cross_reference: ICD9CM:422.91
has_exact_synonym: Idiopathic myocarditis
has_exact_synonym: Isolated (Fiedler's) myocarditis
database_cross_reference: SNOMEDCT_US_2015_03_01:194954007
database_cross_reference: SNOMEDCT_US_2015_03_01:194955008
database_cross_reference: SNOMEDCT_US_2015_03_01:266238009
database_cross_reference: SNOMEDCT_US_2015_03_01:91025000
database_cross_reference: UMLS_CUI:C0155689
has_obo_namespace: disease_ontology
has_exact_synonym: fiedler myocarditis

Axiom
annotated target: Isolated (Fiedler's) myocarditis
database_cross_reference: SNOMEDCT_2005_07_31:194954007
annotated source: fiedler's myocarditis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:422.91
annotated target: Idiopathic myocarditis
annotated source: fiedler's myocarditis
annotated property: has_exact_synonym

septic myocarditis
type: Class
subclass of: DOID 3951
id: DOID:10779
database_cross_reference: ICD10CM:I40.0
database_cross_reference: ICD9CM:422.92
database_cross_reference: SNOMEDCT_US_2015_03_01:194959002
database_cross_reference: SNOMEDCT_US_2015_03_01:64043005
has_exact_synonym: Septic myocarditis NOS (disorder)
has_exact_synonym: Septic myocarditis, NOS
database_cross_reference: UMLS_CUI:C0155690
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:64043005
annotated target: Septic myocarditis, NOS
annotated source: septic myocarditis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194959002
annotated target: Septic myocarditis NOS (disorder)
annotated source: septic myocarditis
annotated property: has_exact_synonym

Chromadorea infectious disease
type: Class
definition: A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands.
id: DOID:1078
has_alternative_id: DOID:4192
has_obo_namespace: disease_ontology
has_exact_synonym: secernentea infectious disease
deprecated: true

Axiom
annotated target: A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chromadoria
annotated source: Chromadorea infectious disease
annotated property: definition

primary polycythemia
type: Class
subclass of: DOID 8432
id: DOID:10780
has_exact_synonym: Familiar Polycythemia
database_cross_reference: ICD10CM:D75.0
database_cross_reference: ICD9CM:289.6
database_cross_reference: MSH:C536842
database_cross_reference: NCI:C26955
database_cross_reference: SNOMEDCT_US_2015_03_01:154840005
database_cross_reference: SNOMEDCT_US_2015_03_01:17342003
database_cross_reference: SNOMEDCT_US_2015_03_01:267571003
database_cross_reference: UMLS_CUI:C0152264
has_obo_namespace: disease_ontology
has_exact_synonym: familial erythrocytosis
in_subset: DO MGI slim

Axiom
annotated target: Familiar Polycythemia
database_cross_reference: NCI2004_11_17:C26955
annotated source: primary polycythemia
annotated property: has_exact_synonym

mesenteric lymphadenitis
type: Class
subclass of: DOID 1602
id: DOID:10782
database_cross_reference: ICD10CM:I88.0
database_cross_reference: ICD9CM:289.2
database_cross_reference: MSH:D008640
has_exact_synonym: Mesenteric adenitis
has_exact_synonym: Mesenteric lymphadenitis
has_exact_synonym: Mesenteric lymphadenitis (disorder)
database_cross_reference: NCI:C26830
database_cross_reference: SNOMEDCT_US_2015_03_01:154837005
database_cross_reference: SNOMEDCT_US_2015_03_01:191376006
database_cross_reference: SNOMEDCT_US_2015_03_01:191378007
database_cross_reference: SNOMEDCT_US_2015_03_01:267548000
database_cross_reference: SNOMEDCT_US_2015_03_01:44897000
database_cross_reference: UMLS_CUI:C0025469
has_obo_namespace: disease_ontology

Axiom
annotated target: Mesenteric adenitis
database_cross_reference: SNOMEDCT_2005_07_31:191376006
annotated source: mesenteric lymphadenitis
annotated property: has_exact_synonym

Axiom
annotated target: Mesenteric lymphadenitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:44897000
annotated source: mesenteric lymphadenitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:289.2
annotated target: Mesenteric lymphadenitis
annotated source: mesenteric lymphadenitis
annotated property: has_exact_synonym

Axiom
annotated target: Mesenteric adenitis
database_cross_reference: SNOMEDCT_2005_07_31:154837005
annotated source: mesenteric lymphadenitis
annotated property: has_exact_synonym

methemoglobinemia
type: Class
subclass of: DOID 2860
id: DOID:10783
database_cross_reference: ICD10CM:D74
database_cross_reference: ICD10CM:D74.9
database_cross_reference: ICD9CM:289.7
database_cross_reference: MSH:D008708
database_cross_reference: NCI:C34817
database_cross_reference: SNOMEDCT_US_2015_03_01:124965005
database_cross_reference: SNOMEDCT_US_2015_03_01:131171006
database_cross_reference: SNOMEDCT_US_2015_03_01:191386007
database_cross_reference: SNOMEDCT_US_2015_03_01:191393006
database_cross_reference: SNOMEDCT_US_2015_03_01:267549008
database_cross_reference: SNOMEDCT_US_2015_03_01:38959009
database_cross_reference: UMLS_CUI:C0025637
has_obo_namespace: disease_ontology

Queensland tick typhus
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
has_related_synonym: Australian tick typhus
has_alternative_id: DOID:0050038
id: DOID:10784
has_related_synonym: North Queensland tick typhus
has_exact_synonym: Queensland tick typhus (disorder)
has_exact_synonym: Rickettsia australis spotted fever
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: Queensland tick typhus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:68981009
annotated source: Queensland tick typhus
annotated property: has_exact_synonym

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Queensland tick typhus
annotated property: definition

premature menopause
type: Class
subclass of: DOID 1414
id: DOID:10787
database_cross_reference: ICD10CM:E28.31
database_cross_reference: ICD10CM:E28.319
database_cross_reference: ICD9CM:256.31
database_cross_reference: MSH:D008594
has_exact_synonym: Menopause - premature
has_exact_synonym: Menopause praecox (qualifier value)
database_cross_reference: NCI:C80099
has_exact_synonym: Premature menopause
has_exact_synonym: Premature menopause (finding)
has_exact_synonym: Premature menopause NOS
has_exact_synonym: Premature menopause NOS (qualifier value)
database_cross_reference: SNOMEDCT_US_2015_03_01:154713003
database_cross_reference: SNOMEDCT_US_2015_03_01:190544007
database_cross_reference: SNOMEDCT_US_2015_03_01:237789005
database_cross_reference: SNOMEDCT_US_2015_03_01:267486007
database_cross_reference: SNOMEDCT_US_2015_03_01:373717006
database_cross_reference: SNOMEDCT_US_2015_03_01:74296006
database_cross_reference: UMLS_CUI:C0025322
has_obo_namespace: disease_ontology

Axiom
annotated target: Premature menopause NOS (qualifier value)
database_cross_reference: SNOMEDCT_2005_07_31:237789005
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
annotated target: Menopause praecox (qualifier value)
database_cross_reference: SNOMEDCT_2005_07_31:74296006
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:256.31
annotated target: Premature menopause
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
annotated target: Menopause - premature
database_cross_reference: SNOMEDCT_2005_07_31:267486007
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:256.3
annotated target: Premature menopause NOS
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
annotated target: Menopause - premature
database_cross_reference: SNOMEDCT_2005_07_31:154713003
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
annotated target: Premature menopause NOS
database_cross_reference: SNOMEDCT_2005_07_31:190544007
annotated source: premature menopause
annotated property: has_exact_synonym

Axiom
annotated target: Premature menopause (finding)
database_cross_reference: SNOMEDCT_2005_07_31:373717006
annotated source: premature menopause
annotated property: has_exact_synonym

osteitis condensans
type: Class
id: DOID:10788
has_exact_synonym: Focal sclerosing osteomyelitis
has_exact_synonym: Sclerosing osteitis
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:54691007
annotated target: Sclerosing osteitis
annotated source: osteitis condensans
annotated property: has_exact_synonym

Axiom
annotated target: Focal sclerosing osteomyelitis
database_cross_reference: SNOMEDCT_2005_07_31:55413008
annotated source: osteitis condensans
annotated property: has_exact_synonym

setariasis
type: Class
subclass of: filariasis
definition: A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
id: DOID:1079
has_exact_synonym: Infectious Disease by Setaria (disorder)
database_cross_reference: MSH:D012719
database_cross_reference: SNOMEDCT_US_2015_03_01:4414005
database_cross_reference: UMLS_CUI:C0036850
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/3277411.pdf
annotated source: setariasis
annotated property: definition

Axiom
annotated target: Infectious Disease by Setaria (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:4414005
annotated source: setariasis
annotated property: has_exact_synonym

chronic frontal sinusitis
type: Class
subclass of: frontal sinusitis
definition: A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
id: DOID:10790
database_cross_reference: ICD10CM:J32.1
database_cross_reference: ICD9CM:473.1
database_cross_reference: NCI:C34473
database_cross_reference: SNOMEDCT_US_2015_03_01:155527004
database_cross_reference: SNOMEDCT_US_2015_03_01:195786002
database_cross_reference: SNOMEDCT_US_2015_03_01:60130002
database_cross_reference: UMLS_CUI:C0008683
has_obo_namespace: disease_ontology

Axiom
annotated target: A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
database_cross_reference: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html
database_cross_reference: url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm
annotated source: chronic frontal sinusitis
annotated property: definition

frontal sinusitis
type: Class
subclass of: sinusitis
definition: A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
id: DOID:10791
has_exact_synonym: Frontal sinusitis
has_exact_synonym: Frontal sinusitis (& chronic)
has_exact_synonym: Frontal sinusitis (disorder)
database_cross_reference: ICD10CM:J32.1
database_cross_reference: MSH:D015522
database_cross_reference: NCI:C34626
database_cross_reference: SNOMEDCT_US_2015_03_01:195786002
database_cross_reference: SNOMEDCT_US_2015_03_01:275485006
database_cross_reference: SNOMEDCT_US_2015_03_01:78737005
database_cross_reference: UMLS_CUI:C0016735
has_obo_namespace: disease_ontology

Axiom
annotated target: Frontal sinusitis (& chronic)
database_cross_reference: SNOMEDCT_2005_07_31:195786002
annotated source: frontal sinusitis
annotated property: has_exact_synonym

Axiom
annotated target: Frontal sinusitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:78737005
annotated source: frontal sinusitis
annotated property: has_exact_synonym

Axiom
annotated target: A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
database_cross_reference: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html
database_cross_reference: url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm
annotated source: frontal sinusitis
annotated property: definition

Axiom
annotated target: Frontal sinusitis
database_cross_reference: SNOMEDCT_2005_07_31:275485006
annotated source: frontal sinusitis
annotated property: has_exact_synonym

chronic maxillary sinusitis
type: Class
subclass of: DOID 2051
has_exact_synonym: (maxillary sinusitis) or (chronic antritis)
definition: A maxillary sinusitis which lasts for 12 weeks or more.
id: DOID:10792
database_cross_reference: ICD10CM:J32.0
database_cross_reference: ICD9CM:473.0
database_cross_reference: NCI:C34477
database_cross_reference: SNOMEDCT_US_2015_03_01:155526008
database_cross_reference: SNOMEDCT_US_2015_03_01:195785003
database_cross_reference: SNOMEDCT_US_2015_03_01:35923002
database_cross_reference: SNOMEDCT_US_2015_03_01:8299006
database_cross_reference: UMLS_CUI:C0008698
has_exact_synonym: chronic antritis
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:8299006
annotated target: chronic antritis
annotated source: chronic maxillary sinusitis
annotated property: has_exact_synonym

Axiom
annotated target: A maxillary sinusitis which lasts for 12 weeks or more.
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
database_cross_reference: url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html
database_cross_reference: url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm
annotated source: chronic maxillary sinusitis
annotated property: definition

Axiom
annotated target: (maxillary sinusitis) or (chronic antritis)
database_cross_reference: SNOMEDCT_2005_07_31:195785003
annotated source: chronic maxillary sinusitis
annotated property: has_exact_synonym

chronic sphenoidal sinusitis
type: Class
subclass of: sphenoid sinusitis
definition: A sphenoid sinusitis which lasts for 12 weeks or more.
id: DOID:10793
database_cross_reference: ICD10CM:J32.3
database_cross_reference: ICD9CM:473.3
database_cross_reference: NCI:C34480
database_cross_reference: SNOMEDCT_US_2015_03_01:155528009
database_cross_reference: SNOMEDCT_US_2015_03_01:266384001
database_cross_reference: SNOMEDCT_US_2015_03_01:38961000
has_exact_synonym: Sphenoidal sinus-chr.
database_cross_reference: UMLS_CUI:C0008712
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266384001
annotated target: Sphenoidal sinus-chr.
annotated source: chronic sphenoidal sinusitis
annotated property: has_exact_synonym

Axiom
annotated target: A sphenoid sinusitis which lasts for 12 weeks or more.
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
annotated source: chronic sphenoidal sinusitis
annotated property: definition

sphenoid sinusitis
type: Class
subclass of: sinusitis
definition: A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
id: DOID:10794
database_cross_reference: ICD10CM:J32.3
database_cross_reference: MSH:D015524
database_cross_reference: NCI:C35031
database_cross_reference: SNOMEDCT_US_2015_03_01:13266007
has_exact_synonym: Sphenoidal sinusitis
has_exact_synonym: Sphenoidal sinusitis (disorder)
database_cross_reference: UMLS_CUI:C0037886
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C35031
annotated target: Sphenoidal sinusitis
annotated source: sphenoid sinusitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:13266007
annotated target: Sphenoidal sinusitis (disorder)
annotated source: sphenoid sinusitis
annotated property: has_exact_synonym

Axiom
annotated target: A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
annotated source: sphenoid sinusitis
annotated property: definition

congenital syphilitic encephalitis
type: Class
has_exact_synonym: Congenital syphilitic encephalitis (disorder)
id: DOID:10795
has_exact_synonym: Encephalitis due to congenital syphilis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: Congenital syphilitic encephalitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:32735002
annotated source: congenital syphilitic encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: Encephalitis due to congenital syphilis
database_cross_reference: SNOMEDCT_2005_07_31:192699001
annotated source: congenital syphilitic encephalitis
annotated property: has_exact_synonym

filariasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
id: DOID:1080
database_cross_reference: ICD10CM:B74
database_cross_reference: ICD10CM:B74.9
database_cross_reference: ICD9CM:125.9
database_cross_reference: MSH:D005368
database_cross_reference: NCI:C34611
database_cross_reference: SNOMEDCT_US_2015_03_01:105706003
database_cross_reference: SNOMEDCT_US_2015_03_01:187161002
database_cross_reference: SNOMEDCT_US_2015_03_01:187532008
database_cross_reference: SNOMEDCT_US_2015_03_01:50342004
database_cross_reference: UMLS_CUI:C0016085
has_exact_synonym: disease due to superfamily Filarioidea (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:105706003
annotated target: disease due to superfamily Filarioidea (disorder)
annotated source: filariasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
database_cross_reference: url:http://en.wikipedia.org/wiki/Filariasis
annotated source: filariasis
annotated property: definition

acute gonococcal epididymo-orchitis
type: Class
subclass of: DOID 9401
id: DOID:10802
has_exact_synonym: Gonococcal epididymo-orchitis (acute)
database_cross_reference: ICD9CM:098.13
database_cross_reference: SNOMEDCT_US_2015_03_01:186912008
database_cross_reference: SNOMEDCT_US_2015_03_01:30168008
database_cross_reference: UMLS_CUI:C0153193
has_exact_synonym: acute gonococcal epididymo-orchitis (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: Gonococcal epididymo-orchitis (acute)
database_cross_reference: ICD9CM_2006:098.13
annotated source: acute gonococcal epididymo-orchitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:30168008
annotated target: acute gonococcal epididymo-orchitis (disorder)
annotated source: acute gonococcal epididymo-orchitis
annotated property: has_exact_synonym

Haemophilus influenzae meningitis
type: Class
id: DOID:10803
has_exact_synonym: Haemophilus meningitis (disorder)
has_exact_synonym: Hemophilus meningitis
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: Haemophilus meningitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:192643004
annotated source: Haemophilus influenzae meningitis
annotated property: has_exact_synonym

Axiom
annotated target: Hemophilus meningitis
database_cross_reference: ICD9CM_2006:320.0
annotated source: Haemophilus influenzae meningitis
annotated property: has_exact_synonym

gastric ulcer
type: Class
subclass of: DOID 750
has_alternative_id: DOID:10807
id: DOID:10808
has_alternative_id: DOID:10809
has_alternative_id: DOID:12047
has_alternative_id: DOID:12057
has_alternative_id: DOID:12068
has_alternative_id: DOID:12069
has_alternative_id: DOID:12806
has_alternative_id: DOID:13124
has_alternative_id: DOID:13125
has_alternative_id: DOID:241
has_alternative_id: DOID:242
database_cross_reference: ICD10CM:K25
database_cross_reference: ICD9CM:531
database_cross_reference: MSH:D013276
database_cross_reference: NCI:C3388
database_cross_reference: SNOMEDCT_US_2015_03_01:155681009
database_cross_reference: SNOMEDCT_US_2015_03_01:155690002
database_cross_reference: SNOMEDCT_US_2015_03_01:196627009
database_cross_reference: SNOMEDCT_US_2015_03_01:196642007
database_cross_reference: SNOMEDCT_US_2015_03_01:196649003
database_cross_reference: SNOMEDCT_US_2015_03_01:196650003
database_cross_reference: SNOMEDCT_US_2015_03_01:266436006
database_cross_reference: SNOMEDCT_US_2015_03_01:397825006
database_cross_reference: SNOMEDCT_US_2015_03_01:6034002
database_cross_reference: UMLS_CUI:C0038358
has_exact_synonym: acute gastric ulcer with haemorrhage and perforation
has_exact_synonym: acute gastric ulcer with hemorrhage AND obstruction (disorder)
has_exact_synonym: acute gastric ulcer with hemorrhage AND perforation
has_exact_synonym: acute gastric ulcer with hemorrhage AND perforation (disorder)
has_exact_synonym: acute gastric ulcer with hemorrhage AND perforation [dup] (disorder)
has_exact_synonym: acute gastric ulcer with hemorrhage AND with perforation but without obstruction
has_exact_synonym: acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder)
has_exact_synonym: acute gastric ulcer with hemorrhage and obstruction
has_exact_synonym: acute gastric ulcer with hemorrhage and perforation
has_exact_synonym: acute gastric ulcer with hemorrhage and perforation, with obstruction
has_exact_synonym: acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
has_exact_synonym: acute gastric ulcer with hemorrhage, with obstruction
has_exact_synonym: acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder)
has_exact_synonym: acute gastric ulcer with perforation
has_exact_synonym: acute gastric ulcer with perforation AND obstruction
has_exact_synonym: acute gastric ulcer with perforation AND obstruction (disorder)
has_exact_synonym: acute gastric ulcer with perforation, with obstruction
has_exact_synonym: acute gastric ulcer without hemorrhage and without perforation
has_exact_synonym: acute gastric ulcer without hemorrhage, without perforation AND without obstruction
has_exact_synonym: acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder)
has_exact_synonym: acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
has_exact_synonym: bleeding acute gastric ulcer
has_exact_synonym: chronic gastric ulcer without hemorrhage AND without perforation
has_exact_synonym: chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
has_exact_synonym: chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder)
has_exact_synonym: chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:531.71
annotated target: chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:531.01
annotated target: acute gastric ulcer with hemorrhage, with obstruction
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:531.2
annotated target: acute gastric ulcer with hemorrhage and perforation
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:43694004
annotated target: acute gastric ulcer with perforation AND obstruction (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:531.20
annotated target: acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:46708007
annotated target: acute gastric ulcer with hemorrhage AND obstruction (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196631003
annotated target: acute gastric ulcer with hemorrhage AND perforation [dup] (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:17067009
annotated target: acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:531.30
annotated target: acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:60531007
annotated target: chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:53337006
annotated target: acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155684001
annotated target: acute gastric ulcer with haemorrhage and perforation
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:48974009
annotated target: acute gastric ulcer with hemorrhage AND perforation (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:531.11
annotated target: acute gastric ulcer with perforation, with obstruction
annotated source: gastric ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:54053008
annotated target: acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder)
annotated source: gastric ulcer
annotated property: has_exact_synonym

mansonelliasis
type: Class
subclass of: filariasis
definition: A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
id: DOID:1081
database_cross_reference: ICD10CM:B74.4
database_cross_reference: MSH:D008368
has_exact_synonym: Mansonelliasis (disorder)
database_cross_reference: NCI:C84882
database_cross_reference: SNOMEDCT_US_2015_03_01:240849009
database_cross_reference: UMLS_CUI:C0024759
has_obo_namespace: disease_ontology

Axiom
annotated target: A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
database_cross_reference: url:http://en.wikipedia.org/wiki/Mansonelliasis
annotated source: mansonelliasis
annotated property: definition

Axiom
annotated target: Mansonelliasis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:240849009
annotated source: mansonelliasis
annotated property: has_exact_synonym

tibialis tendinitis
type: Class
subclass of: DOID 971
id: DOID:10810
database_cross_reference: ICD9CM:726.72
database_cross_reference: SNOMEDCT_US_2015_03_01:50127006
has_exact_synonym: Tibialis tendinitis (disorder)
database_cross_reference: UMLS_CUI:C0158321
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:50127006
annotated target: Tibialis tendinitis (disorder)
annotated source: tibialis tendinitis
annotated property: has_exact_synonym

nasal cavity cancer
type: Class
subclass of: respiratory system cancer
subclass of: DOID 2163
definition: A respiratory system cancer that is located_in the nasal cavity.
id: DOID:10811
database_cross_reference: ICD10CM:C30.0
database_cross_reference: ICD9CM:160.0
database_cross_reference: NCI:C4918
database_cross_reference: SNOMEDCT_US_2015_03_01:187832001
database_cross_reference: SNOMEDCT_US_2015_03_01:363422006
database_cross_reference: SNOMEDCT_US_2015_03_01:93917007
database_cross_reference: UMLS_CUI:C0728864
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of nasal cavities
has_exact_synonym: malignant tumor of the nasal cavity
in_subset: TopNodes DOcancerslim

Axiom
annotated target: A respiratory system cancer that is located_in the nasal cavity.
database_cross_reference: url:http://en.wikipedia.org/wiki/Nasal_cavity
annotated source: nasal cavity cancer
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:160.0
annotated target: malignant neoplasm of nasal cavities
annotated source: nasal cavity cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4918
annotated target: malignant tumor of the nasal cavity
annotated source: nasal cavity cancer
annotated property: has_exact_synonym

nasal cavity olfactory neuroblastoma
type: Class
subclass of: nasal cavity cancer
subclass of: DOID 369
id: DOID:10812
database_cross_reference: NCI:C7604
has_exact_synonym: Olfactory neuroblastoma of the nasal cavity
database_cross_reference: UMLS_CUI:C1334923
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C7604
annotated target: Olfactory neuroblastoma of the nasal cavity
annotated source: nasal cavity olfactory neuroblastoma
annotated property: has_exact_synonym

nasal cavity lymphoma
type: Class
subclass of: lymphoma
subclass of: nasal cavity cancer
id: DOID:10813
has_exact_synonym: Lymphoma of the nasal cavity
database_cross_reference: NCI:C6074
database_cross_reference: UMLS_CUI:C1334921
has_obo_namespace: disease_ontology
has_exact_synonym: lymphoma of nasal cavity

Axiom
annotated target: Lymphoma of the nasal cavity
database_cross_reference: NCI2004_11_17:C6074
annotated source: nasal cavity lymphoma
annotated property: has_exact_synonym

recurrent duodenal cancer
type: Class
id: DOID:10815
has_obo_namespace: disease_ontology
has_exact_synonym: recurrent malignant Duodenal neoplasm
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C9263
annotated target: recurrent malignant Duodenal neoplasm
annotated source: recurrent duodenal cancer
annotated property: has_exact_synonym

duodenum adenocarcinoma
type: Class
subclass of: duodenum cancer
subclass of: DOID 4906
definition: A duodenum cancer that derives_from epithelial cells of glandular origin.
id: DOID:10816
has_exact_synonym: Duodenal adenocarcinoma
database_cross_reference: NCI:C7889
database_cross_reference: SNOMEDCT_US_2015_03_01:408644002
database_cross_reference: UMLS_CUI:C0278804
has_related_synonym: adenocarcinoma of duodenum
has_exact_synonym: adenocarcinoma of duodenum (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: A duodenum cancer that derives_from epithelial cells of glandular origin.
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma
annotated source: duodenum adenocarcinoma
annotated property: definition

Axiom
annotated target: Duodenal adenocarcinoma
database_cross_reference: NCI2004_11_17:C7889
annotated source: duodenum adenocarcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:408644002
annotated target: adenocarcinoma of duodenum (disorder)
annotated source: duodenum adenocarcinoma
annotated property: has_exact_synonym

sexual sadism
type: Class
subclass of: sexual disorder
id: DOID:10817
database_cross_reference: ICD10CM:F65.52
database_cross_reference: ICD9CM:302.84
database_cross_reference: MSH:D012448
database_cross_reference: NCI:C94358
database_cross_reference: SNOMEDCT_US_2015_03_01:59394009
database_cross_reference: UMLS_CUI:C0036913
has_obo_namespace: disease_ontology

leptospiral meningitis
type: Class
has_exact_synonym: Aseptic leptospiral meningitis
has_exact_synonym: Aseptic leptospiral meningitis (disorder)
id: DOID:10818
has_exact_synonym: Leptospiral meningitis (aseptic)
has_exact_synonym: Leptospiral meningitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: Aseptic leptospiral meningitis
database_cross_reference: MTHICD9_2006:100.81
annotated source: leptospiral meningitis
annotated property: has_exact_synonym

Axiom
annotated target: Leptospiral meningitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:186956008
annotated source: leptospiral meningitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:100.81
annotated target: Leptospiral meningitis (aseptic)
annotated source: leptospiral meningitis
annotated property: has_exact_synonym

Axiom
annotated target: Aseptic leptospiral meningitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:25957002
annotated source: leptospiral meningitis
annotated property: has_exact_synonym

dirofilariasis
type: Class
subclass of: filariasis
subclass of: DOID 37
definition: A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
id: DOID:1082
has_exact_synonym: Dirofilaria infectious disease
database_cross_reference: ICD10CM:B74.8
has_exact_synonym: Infection by Dirofilaria (disorder)
database_cross_reference: MSH:D004184
database_cross_reference: SNOMEDCT_US_2015_03_01:73328005
database_cross_reference: UMLS_CUI:C0012602
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
database_cross_reference: url:http://emedicine.medscape.com/article/236698-overview
annotated source: dirofilariasis
annotated property: definition

Axiom
annotated target: Infection by Dirofilaria (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:73328005
annotated source: dirofilariasis
annotated property: has_exact_synonym

Axiom
annotated target: Dirofilaria infectious disease
database_cross_reference: MTHICD9_2006:125.6
annotated source: dirofilariasis
annotated property: has_exact_synonym

malignant essential hypertension
type: Class
subclass of: malignant hypertension
subclass of: essential hypertension
has_exact_synonym: Accelerated essential hypertension
id: DOID:10823
database_cross_reference: ICD9CM:401.0
database_cross_reference: NCI:C34802
database_cross_reference: SNOMEDCT_US_2015_03_01:1218009
database_cross_reference: SNOMEDCT_US_2015_03_01:78975002
database_cross_reference: UMLS_CUI:C0024588
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Essential hypertension
has_exact_synonym: malignant essential hypertension (disorder)

Axiom
annotated target: Accelerated essential hypertension
database_cross_reference: SNOMEDCT_2005_07_31:1218009
annotated source: malignant essential hypertension
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C34802
annotated target: malignant Essential hypertension
annotated source: malignant essential hypertension
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:78975002
annotated target: malignant essential hypertension (disorder)
annotated source: malignant essential hypertension
annotated property: has_exact_synonym

malignant hypertension
type: Class
subclass of: hypertension
id: DOID:10824
database_cross_reference: MSH:D006974
database_cross_reference: NCI:C3118
database_cross_reference: SNOMEDCT_US_2015_03_01:155301003
database_cross_reference: SNOMEDCT_US_2015_03_01:286951002
database_cross_reference: SNOMEDCT_US_2015_03_01:70272006
database_cross_reference: UMLS_CUI:C0020540
has_obo_namespace: disease_ontology

essential hypertension
type: Class
subclass of: hypertension
definition: A hypertension with no known cause. It is the most common type of hypertension.
id: DOID:10825
database_cross_reference: ICD10CM:I10
database_cross_reference: ICD9CM:401
database_cross_reference: MSH:C562386
database_cross_reference: NCI:C3478
database_cross_reference: OMIM:145500
database_cross_reference: OMIM:603918
database_cross_reference: OMIM:604329
database_cross_reference: OMIM:607329
database_cross_reference: OMIM:608742
database_cross_reference: OMIM:610261
database_cross_reference: OMIM:610262
database_cross_reference: OMIM:610948
database_cross_reference: OMIM:611014
database_cross_reference: ORDO:243761
database_cross_reference: SNOMEDCT_US_2015_03_01:155296003
database_cross_reference: SNOMEDCT_US_2015_03_01:194757006
database_cross_reference: SNOMEDCT_US_2015_03_01:194760004
database_cross_reference: SNOMEDCT_US_2015_03_01:266228004
database_cross_reference: SNOMEDCT_US_2015_03_01:59621000
database_cross_reference: UMLS_CUI:C0085580
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: idiopathic hypertension
has_exact_synonym: primary hypertension
in_subset: DO MGI slim

Axiom
database_cross_reference: NCI2004_11_17:C3478
annotated target: primary hypertension
annotated source: essential hypertension
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:4003-0017
annotated target: idiopathic hypertension
annotated source: essential hypertension
annotated property: has_exact_synonym

Axiom
annotated target: A hypertension with no known cause. It is the most common type of hypertension.
database_cross_reference: url:http://en.wikipedia.org/wiki/Essential_hypertension
database_cross_reference: url:http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html
annotated source: essential hypertension
annotated property: definition

gender identity disorder in adolescent or adult
type: Class
id: DOID:10827
has_obo_namespace: disease_ontology
deprecated: true

voyeurism
type: Class
subclass of: paraphilia disorder
id: DOID:10834
database_cross_reference: ICD10CM:F65.3
database_cross_reference: ICD9CM:302.82
database_cross_reference: MSH:D014843
database_cross_reference: NCI:C94360
database_cross_reference: SNOMEDCT_US_2015_03_01:192515002
database_cross_reference: SNOMEDCT_US_2015_03_01:63835008
database_cross_reference: UMLS_CUI:C0042979
has_obo_namespace: disease_ontology

chylocele of tunica vaginalis
type: Class
subclass of: DOID 48
has_exact_synonym: Chylocele of tunica vaginalis (disorder)
id: DOID:10835
database_cross_reference: ICD9CM:608.84
database_cross_reference: SNOMEDCT_US_2015_03_01:7864001
database_cross_reference: UMLS_CUI:C0156315
has_obo_namespace: disease_ontology

Axiom
annotated target: Chylocele of tunica vaginalis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:7864001
annotated source: chylocele of tunica vaginalis
annotated property: has_exact_synonym

diabetes mellitus with hyperosmolarity
type: Class
id: DOID:10836
has_obo_namespace: disease_ontology
deprecated: true

diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled
type: Class
id: DOID:10837
has_exact_synonym: Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled
has_exact_synonym: Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled
database_cross_reference: ICD9CM_2006:250.21
annotated source: diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled
annotated property: has_exact_synonym

Axiom
annotated target: Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled
database_cross_reference: MTHICD9_2006:250.21
annotated source: diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled
annotated property: has_exact_synonym

diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled
type: Class
id: DOID:10838
has_exact_synonym: Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled
has_exact_synonym: Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled
database_cross_reference: MTHICD9_2006:250.23
annotated source: diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled
annotated property: has_exact_synonym

Axiom
annotated target: Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled
database_cross_reference: ICD9CM_2006:250.23
annotated source: diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled
annotated property: has_exact_synonym

Eastern equine encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma.
id: DOID:10841
has_related_synonym: EEE
database_cross_reference: ICD10CM:A83.2
database_cross_reference: ICD9CM:062.2
database_cross_reference: MSH:D020242
has_exact_synonym: Neuroinvasive Eastern equine encephalitis virus infection
database_cross_reference: SNOMEDCT_US_2015_03_01:40177004
database_cross_reference: SNOMEDCT_US_2015_03_01:416925005
database_cross_reference: SNOMEDCT_US_2015_03_01:417496004
database_cross_reference: UMLS_CUI:C0153065
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma.
database_cross_reference: url:http://www.cdc.gov/EasternEquineEncephalitis/index.html
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm
database_cross_reference: url:http://www.ncagr.gov/vet/FactSheets/EEE.htm
annotated source: Eastern equine encephalitis
annotated property: definition

Axiom
annotated target: Neuroinvasive Eastern equine encephalitis virus infection
database_cross_reference: SNOMEDCT_2005_07_31:417496004
annotated source: Eastern equine encephalitis
annotated property: has_exact_synonym

Murray Valley encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
has_exact_synonym: Australian X disease
has_exact_synonym: Australian encephalitis
id: DOID:10842
database_cross_reference: ICD10CM:A83.4
database_cross_reference: ICD9CM:062.4
database_cross_reference: SNOMEDCT_US_2015_03_01:66454007
database_cross_reference: UMLS_CUI:C0153066
has_obo_namespace: disease_ontology

Axiom
annotated target: Australian X disease
database_cross_reference: MTHICD9_2006:062.4
annotated source: Murray Valley encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: Australian encephalitis
database_cross_reference: ICD9CM_2006:062.4
annotated source: Murray Valley encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
database_cross_reference: url:http://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/13007862
annotated source: Murray Valley encephalitis
annotated property: definition

Western equine encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
id: DOID:10843
database_cross_reference: ICD10CM:A83.1
database_cross_reference: ICD9CM:062.1
database_cross_reference: MSH:D020241
database_cross_reference: NCI:C85227
database_cross_reference: SNOMEDCT_US_2015_03_01:47523006
database_cross_reference: UMLS_CUI:C0153064
has_related_synonym: WEE
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm
annotated source: Western equine encephalitis
annotated property: definition

Japanese encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
id: DOID:10844
database_cross_reference: ICD10CM:A83.0
database_cross_reference: ICD9CM:062.0
has_exact_synonym: Japanese B encephalitis
database_cross_reference: MSH:D004672
database_cross_reference: NCI:C34577
database_cross_reference: SNOMEDCT_US_2015_03_01:154345006
database_cross_reference: SNOMEDCT_US_2015_03_01:266194002
database_cross_reference: SNOMEDCT_US_2015_03_01:52947006
database_cross_reference: UMLS_CUI:C0014057
has_obo_namespace: disease_ontology

Axiom
annotated target: Japanese B encephalitis
database_cross_reference: MTHICD9_2006:062.0
annotated source: Japanese encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm
annotated source: Japanese encephalitis
annotated property: definition

St. Louis encephalitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
id: DOID:10845
database_cross_reference: ICD10CM:A83.3
database_cross_reference: ICD9CM:062.3
database_cross_reference: MSH:D004674
has_exact_synonym: Neuroinvasive St. Louis encephalitis virus infection
database_cross_reference: SNOMEDCT_US_2015_03_01:10429004
database_cross_reference: SNOMEDCT_US_2015_03_01:417192005
database_cross_reference: SNOMEDCT_US_2015_03_01:417607009
database_cross_reference: UMLS_CUI:C0014060
has_obo_namespace: disease_ontology

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html
annotated source: St. Louis encephalitis
annotated property: definition

Axiom
annotated target: Neuroinvasive St. Louis encephalitis virus infection
database_cross_reference: SNOMEDCT_2005_07_31:417607009
annotated source: St. Louis encephalitis
annotated property: has_exact_synonym

angiodysplasia of intestine
type: Class
subclass of: DOID 2494
subclass of: DOID 5295
id: DOID:10846
database_cross_reference: ICD9CM:569.84
database_cross_reference: SNOMEDCT_US_2015_03_01:235853006
database_cross_reference: SNOMEDCT_US_2015_03_01:32868004
database_cross_reference: UMLS_CUI:C0267367
has_obo_namespace: disease_ontology

intrauterine hypoxia and birth asphyxia
type: Class
id: DOID:10848
has_obo_namespace: disease_ontology
deprecated: true

sexual masochism
type: Class
subclass of: sexual disorder
id: DOID:10849
database_cross_reference: ICD10CM:F65.51
database_cross_reference: ICD9CM:302.83
database_cross_reference: MSH:D008398
database_cross_reference: NCI:C94356
database_cross_reference: SNOMEDCT_US_2015_03_01:248104007
database_cross_reference: SNOMEDCT_US_2015_03_01:51239001
database_cross_reference: UMLS_CUI:C0036908
has_obo_namespace: disease_ontology

Edwards syndrome
type: Class
subclass of: chromosomal disease
has_exact_synonym: Complete trisomy 18 syndrome (disorder)
id: DOID:1085
has_exact_synonym: E3 Trisomy
database_cross_reference: ICD10CM:Q91.3
database_cross_reference: ICD9CM:758.2
database_cross_reference: MSH:C580500
database_cross_reference: NCI:C101362
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2015_03_01:157022000
database_cross_reference: SNOMEDCT_US_2015_03_01:205626006
database_cross_reference: SNOMEDCT_US_2015_03_01:254265001
database_cross_reference: SNOMEDCT_US_2015_03_01:51500006
database_cross_reference: UMLS_CUI:C0152096
has_obo_namespace: disease_ontology
has_exact_synonym: trisomy 18

Axiom
annotated target: E3 Trisomy
database_cross_reference: NCI2004_11_17:C36626
annotated source: Edwards syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Complete trisomy 18 syndrome (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:51500006
annotated source: Edwards syndrome
annotated property: has_exact_synonym

middle ear cholesterol granuloma
type: Class
subclass of: otitis media
definition: A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
has_exact_synonym: Cholesterin Granuloma of middle ear
has_exact_synonym: Cholesterin granuloma
has_exact_synonym: Cholesterin granuloma of middle ear
id: DOID:10852
database_cross_reference: ICD9CM:385.82
database_cross_reference: NCI:C3655
database_cross_reference: SNOMEDCT_US_2015_03_01:28371001
database_cross_reference: UMLS_CUI:C0155492
has_obo_namespace: disease_ontology

Axiom
annotated target: Cholesterin granuloma of middle ear
database_cross_reference: ICD9CM_2006:385.82
annotated source: middle ear cholesterol granuloma
annotated property: has_exact_synonym

Axiom
annotated target: Cholesterin granuloma
database_cross_reference: SNOMEDCT_2005_07_31:28371001
annotated source: middle ear cholesterol granuloma
annotated property: has_exact_synonym

Axiom
annotated target: Cholesterin Granuloma of middle ear
database_cross_reference: NCI2004_11_17:C3655
annotated source: middle ear cholesterol granuloma
annotated property: has_exact_synonym

Axiom
annotated target: A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
database_cross_reference: url:http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16354369
annotated source: middle ear cholesterol granuloma
annotated property: definition

salivary gland disease
type: Class
subclass of: DOID 403
id: DOID:10854
has_alternative_id: DOID:12898
database_cross_reference: ICD9CM:527.8
has_exact_synonym: Non-neoplastic Salivary gland disease
has_exact_synonym: Salivary gland disease
database_cross_reference: UMLS_CUI:C0029773
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C27662
annotated target: Non-neoplastic Salivary gland disease
annotated source: salivary gland disease
annotated property: has_exact_synonym

congenital chromosomal disease
type: Class
id: DOID:1086
has_obo_namespace: disease_ontology
deprecated: true

paralytic squint
type: Class
subclass of: DOID 540
id: DOID:10863
database_cross_reference: ICD10CM:H49
database_cross_reference: ICD10CM:H49.9
database_cross_reference: ICD9CM:378.5
database_cross_reference: ICD9CM:378.50
has_exact_synonym: Incomitant dissociation
has_exact_synonym: Incomitant dissociation (disorder)
has_exact_synonym: Paralytic squint NOS (disorder)
has_exact_synonym: Paralytic strabismus
has_exact_synonym: Paralytic strabismus (disorder)
has_exact_synonym: Paralytic strabismus, unspecified
database_cross_reference: SNOMEDCT_US_2015_03_01:12942001
database_cross_reference: SNOMEDCT_US_2015_03_01:194117002
database_cross_reference: SNOMEDCT_US_2015_03_01:194120005
database_cross_reference: SNOMEDCT_US_2015_03_01:400942002
database_cross_reference: UMLS_CUI:C0152221
has_exact_synonym: Unspecified paralytic strabismus (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194117002
annotated target: Unspecified paralytic strabismus (disorder)
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
annotated target: Paralytic squint NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:194120005
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
annotated target: Incomitant dissociation
database_cross_reference: SNOMEDCT_2005_07_31:155195008
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
annotated target: Paralytic strabismus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:400942002
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
annotated target: Incomitant dissociation
database_cross_reference: SNOMEDCT_2005_07_31:246745004
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
annotated target: Incomitant dissociation (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:12942001
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:378.5
annotated target: Paralytic strabismus
annotated source: paralytic squint
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:378.50
annotated target: Paralytic strabismus, unspecified
annotated source: paralytic squint
annotated property: has_exact_synonym

partial third-nerve palsy
type: Class
subclass of: paralytic squint
id: DOID:10864
database_cross_reference: ICD9CM:378.51
database_cross_reference: MSH:D015840
has_exact_synonym: Partial third nerve palsy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:194118007
database_cross_reference: SNOMEDCT_US_2015_03_01:3171005
database_cross_reference: SNOMEDCT_US_2015_03_01:420289002
has_exact_synonym: Third nerve palsy with pupil sparing
has_exact_synonym: Third or oculomotor nerve palsy, partial
database_cross_reference: UMLS_CUI:C0271370
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194118007
annotated target: Third nerve palsy with pupil sparing
annotated source: partial third-nerve palsy
annotated property: has_exact_synonym

Axiom
annotated target: Partial third nerve palsy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:3171005
annotated source: partial third-nerve palsy
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:378.51
annotated target: Third or oculomotor nerve palsy, partial
annotated source: partial third-nerve palsy
annotated property: has_exact_synonym

abducens nerve disease
type: Class
subclass of: DOID 3817
has_exact_synonym: Abducens nerve disorder
has_exact_synonym: Abducens nerve weakness
id: DOID:10865
database_cross_reference: ICD10CM:H49.2
database_cross_reference: ICD9CM:378.54
has_exact_synonym: Lateral rectus muscle denervation paresis
has_exact_synonym: Lateral rectus muscle innervation disorder
database_cross_reference: MSH:D020434
database_cross_reference: NCI:C27592
database_cross_reference: NCI:C27593
database_cross_reference: OMIM:100200
database_cross_reference: SNOMEDCT_US_2015_03_01:14720007
database_cross_reference: SNOMEDCT_US_2015_03_01:230533001
database_cross_reference: SNOMEDCT_US_2015_03_01:398760006
database_cross_reference: SNOMEDCT_US_2015_03_01:398925009
database_cross_reference: SNOMEDCT_US_2015_03_01:398963001
database_cross_reference: SNOMEDCT_US_2015_03_01:46587002
database_cross_reference: SNOMEDCT_US_2015_03_01:4892003
database_cross_reference: SNOMEDCT_US_2015_03_01:82373004
has_exact_synonym: Sixth cranial nerve disorder, NOS
has_exact_synonym: Sixth nerve palsy (disorder)
has_exact_synonym: Sixth or abducens nerve palsy
database_cross_reference: UMLS_CUI:C0271355
has_exact_synonym: VIth nerve Paralysis
has_exact_synonym: VIth nerve disorder
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of abducent nerve

Axiom
annotated target: Lateral rectus muscle denervation paresis
database_cross_reference: SNOMEDCT_2005_07_31:46587002
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:378.54
annotated target: Sixth or abducens nerve palsy
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
annotated target: Abducens nerve disorder
database_cross_reference: SNOMEDCT_2005_07_31:398925009
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:14720007
annotated target: Sixth nerve palsy (disorder)
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C27593
annotated target: VIth nerve disorder
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
annotated target: Lateral rectus muscle denervation paresis
database_cross_reference: SNOMEDCT_2005_07_31:398760006
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
annotated target: Lateral rectus muscle innervation disorder
database_cross_reference: SNOMEDCT_2005_07_31:4892003
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C27592
annotated target: VIth nerve Paralysis
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:82373004
annotated target: Sixth cranial nerve disorder, NOS
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
annotated target: Abducens nerve weakness
database_cross_reference: SNOMEDCT_2005_07_31:398963001
annotated source: abducens nerve disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:230533001
annotated target: disorder of abducent nerve
annotated source: abducens nerve disease
annotated property: has_exact_synonym

total third-nerve palsy
type: Class
subclass of: paralytic squint
id: DOID:10866
database_cross_reference: ICD9CM:378.52
database_cross_reference: MSH:D015840
database_cross_reference: SNOMEDCT_US_2015_03_01:194119004
database_cross_reference: SNOMEDCT_US_2015_03_01:85522003
has_exact_synonym: Third nerve palsy with pupil involved
has_exact_synonym: Third or oculomotor nerve palsy, total
has_exact_synonym: Total third nerve palsy (disorder)
database_cross_reference: UMLS_CUI:C0271371
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:85522003
annotated target: Total third nerve palsy (disorder)
annotated source: total third-nerve palsy
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:378.52
annotated target: Third or oculomotor nerve palsy, total
annotated source: total third-nerve palsy
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194119004
annotated target: Third nerve palsy with pupil involved
annotated source: total third-nerve palsy
annotated property: has_exact_synonym

fourth cranial nerve palsy
type: Class
subclass of: paralytic squint
id: DOID:10869
has_exact_synonym: Fourth nerve palsy (disorder)
has_exact_synonym: Fourth or trochlear nerve palsy
has_obo_namespace: disease_ontology

Axiom
annotated target: Fourth or trochlear nerve palsy
database_cross_reference: ICD9CM_2006:378.53
annotated source: fourth cranial nerve palsy
annotated property: has_exact_synonym

Axiom
annotated target: Fourth nerve palsy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:20610004
annotated source: fourth cranial nerve palsy
annotated property: has_exact_synonym

age related macular degeneration
type: Class
subclass of: DOID 2007
definition: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
id: DOID:10871
database_cross_reference: EFO:0001365
database_cross_reference: ICD10CM:H35.30
database_cross_reference: ICD9CM:362.50
database_cross_reference: MSH:D008268
database_cross_reference: NCI:C84391
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:153800
database_cross_reference: OMIM:603075
database_cross_reference: OMIM:608895
database_cross_reference: OMIM:610149
database_cross_reference: OMIM:610698
database_cross_reference: OMIM:611378
database_cross_reference: OMIM:611488
database_cross_reference: OMIM:611953
database_cross_reference: OMIM:613757
database_cross_reference: OMIM:613761
database_cross_reference: OMIM:613778
database_cross_reference: OMIM:613784
database_cross_reference: OMIM:615439
database_cross_reference: OMIM:615489
database_cross_reference: OMIM:615591
database_cross_reference: SNOMEDCT_US_2015_03_01:155112007
database_cross_reference: SNOMEDCT_US_2015_03_01:18222007
database_cross_reference: SNOMEDCT_US_2015_03_01:193384000
database_cross_reference: SNOMEDCT_US_2015_03_01:193385004
database_cross_reference: SNOMEDCT_US_2015_03_01:267718000
database_cross_reference: SNOMEDCT_US_2015_03_01:302891003
has_exact_synonym: Senile macular degeneration
has_exact_synonym: Senile macular retinal degeneration
database_cross_reference: UMLS_CUI:C0242383
has_exact_synonym: age-related macular degeneration
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193384000
annotated target: Senile macular degeneration
annotated source: age related macular degeneration
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:302891003
annotated target: Senile macular retinal degeneration
annotated source: age related macular degeneration
annotated property: has_exact_synonym

Axiom
annotated target: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
database_cross_reference: url:http://en.wikipedia.org/wiki/Macular_degeneration
database_cross_reference: url:http://www.nei.nih.gov/health/maculardegen/armd_facts.asp
annotated source: age related macular degeneration
annotated property: definition

Kuhnt-Junius degeneration
type: Class
subclass of: DOID 2007
id: DOID:10873
has_exact_synonym: Exudative senile macular degeneration of retina
database_cross_reference: ICD10CM:H35.32
database_cross_reference: ICD9CM:362.52
has_exact_synonym: Kuhnt-Junius degeneration (disorder)
has_exact_synonym: Neovascular age-related macular degeneration
database_cross_reference: SNOMEDCT_US_2015_03_01:11290001
database_cross_reference: SNOMEDCT_US_2015_03_01:16018000
database_cross_reference: SNOMEDCT_US_2015_03_01:414173003
has_exact_synonym: Senile macular degeneration, wet
database_cross_reference: UMLS_CUI:C0271084
has_exact_synonym: Wet senile macular retinal degeneration
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:362.52
annotated target: Senile macular degeneration, wet
annotated source: Kuhnt-Junius degeneration
annotated property: has_exact_synonym

Axiom
annotated target: Kuhnt-Junius degeneration (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:11290001
annotated source: Kuhnt-Junius degeneration
annotated property: has_exact_synonym

Axiom
annotated target: Neovascular age-related macular degeneration
database_cross_reference: SNOMEDCT_2005_07_31:414173003
annotated source: Kuhnt-Junius degeneration
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:16018000
annotated target: Wet senile macular retinal degeneration
annotated source: Kuhnt-Junius degeneration
annotated property: has_exact_synonym

Axiom
annotated target: Exudative senile macular degeneration of retina
database_cross_reference: ICD9CM_2006:362.52
annotated source: Kuhnt-Junius degeneration
annotated property: has_exact_synonym

premature labor
type: Class
id: DOID:10875
has_exact_synonym: LABOR PREMATURE
has_exact_synonym: Labour - premature
has_exact_synonym: Premature labor (finding)
has_exact_synonym: Premature labour
has_obo_namespace: disease_ontology
has_exact_synonym: premature labor
deprecated: true

Axiom
annotated target: Premature labor (finding)
database_cross_reference: SNOMEDCT_2005_07_31:6383007
annotated source: premature labor
annotated property: has_exact_synonym

Axiom
annotated target: Premature labour
database_cross_reference: SNOMEDCT_2005_07_31:199046005
annotated source: premature labor
annotated property: has_exact_synonym

Axiom
annotated target: LABOR PREMATURE
database_cross_reference: MTH:NOCODE
annotated source: premature labor
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2401-7840
annotated target: premature labor
annotated source: premature labor
annotated property: has_exact_synonym

Axiom
annotated target: Premature labour
database_cross_reference: SNOMEDCT_2005_07_31:156120003
annotated source: premature labor
annotated property: has_exact_synonym

Axiom
annotated target: Labour - premature
database_cross_reference: SNOMEDCT_2005_07_31:156118001
annotated source: premature labor
annotated property: has_exact_synonym

Axiom
annotated target: Labour - premature
database_cross_reference: SNOMEDCT_2005_07_31:267310009
annotated source: premature labor
annotated property: has_exact_synonym

disorganized type schizophrenia chronic state with acute exacerbation
type: Class
id: DOID:10877
has_obo_namespace: disease_ontology
deprecated: true

meningocele
type: Class
subclass of: spina bifida
id: DOID:1088
database_cross_reference: MSH:D008588
has_exact_synonym: Meningocele (disorder)
has_exact_synonym: Meningocele [Ambiguous]
has_exact_synonym: Meningocele, NOS
database_cross_reference: SNOMEDCT_US_2015_03_01:156890007
database_cross_reference: SNOMEDCT_US_2015_03_01:171131006
database_cross_reference: SNOMEDCT_US_2015_03_01:253121009
database_cross_reference: SNOMEDCT_US_2015_03_01:268308005
database_cross_reference: SNOMEDCT_US_2015_03_01:32941003
database_cross_reference: UMLS_CUI:C0025299
has_obo_namespace: disease_ontology

Axiom
annotated target: Meningocele, NOS
database_cross_reference: SNOMEDCT_2005_07_31:32941003
annotated source: meningocele
annotated property: has_exact_synonym

Axiom
annotated target: Meningocele (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:171131006
annotated source: meningocele
annotated property: has_exact_synonym

Axiom
annotated target: Meningocele [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:253121009
annotated source: meningocele
annotated property: has_exact_synonym

iliac vein thrombophlebitis
type: Class
subclass of: DOID 3875
id: DOID:10880
database_cross_reference: ICD10CM:I80.21
database_cross_reference: ICD9CM:451.81
has_exact_synonym: Phlebitis and thrombophlebitis of the iliac vein NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:195429006
database_cross_reference: UMLS_CUI:C0155772
has_obo_namespace: disease_ontology

Axiom
annotated target: Phlebitis and thrombophlebitis of the iliac vein NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195429006
annotated source: iliac vein thrombophlebitis
annotated property: has_exact_synonym

hand, foot and mouth disease
type: Class
subclass of: DOID 37
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
id: DOID:10881
database_cross_reference: ICD10CM:B08.4
database_cross_reference: ICD9CM:074.3
database_cross_reference: MSH:D006232
database_cross_reference: SNOMEDCT_US_2015_03_01:154357002
database_cross_reference: SNOMEDCT_US_2015_03_01:175497008
database_cross_reference: SNOMEDCT_US_2015_03_01:186664000
database_cross_reference: SNOMEDCT_US_2015_03_01:266108008
database_cross_reference: SNOMEDCT_US_2015_03_01:67171006
database_cross_reference: UMLS_CUI:C0018572
has_exact_synonym: Vesicular stomatitis and exanthem
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:074.3
annotated target: Vesicular stomatitis and exanthem
annotated source: hand, foot and mouth disease
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm
annotated source: hand, foot and mouth disease
annotated property: definition

epidemic pleurodynia
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache.
has_exact_synonym: Bamble disease
has_exact_synonym: Bornholm disease
id: DOID:10882
has_exact_synonym: Epidemic pleurisy
has_exact_synonym: Epidemic, myositis
database_cross_reference: ICD10CM:B33.0
database_cross_reference: ICD9CM:074.1
database_cross_reference: MSH:D011000
database_cross_reference: SNOMEDCT_US_2015_03_01:154356006
database_cross_reference: SNOMEDCT_US_2015_03_01:83264000
database_cross_reference: UMLS_CUI:C0032238
has_exact_synonym: devil's grip
has_obo_namespace: disease_ontology
has_exact_synonym: epidemic myalgia

Axiom
annotated target: Epidemic pleurisy
database_cross_reference: SNOMEDCT_2005_07_31:154356006
annotated source: epidemic pleurodynia
annotated property: has_exact_synonym

Axiom
annotated target: Epidemic, myositis
database_cross_reference: MTHICD9_2006:074.1
annotated source: epidemic pleurodynia
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache.
database_cross_reference: url:http://emedicine.medscape.com/article/300049-overview
annotated source: epidemic pleurodynia
annotated property: definition

herpangina
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
id: DOID:10883
database_cross_reference: ICD10CM:B08.5
database_cross_reference: ICD9CM:074.0
database_cross_reference: MSH:D006557
database_cross_reference: SNOMEDCT_US_2015_03_01:154358007
database_cross_reference: SNOMEDCT_US_2015_03_01:186659004
database_cross_reference: SNOMEDCT_US_2015_03_01:266197009
database_cross_reference: SNOMEDCT_US_2015_03_01:274102007
database_cross_reference: SNOMEDCT_US_2015_03_01:37428001
database_cross_reference: UMLS_CUI:C0019338
has_exact_synonym: Vesicular pharyngitis
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:074.0
annotated target: Vesicular pharyngitis
annotated source: herpangina
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
database_cross_reference: url:http://emedicine.medscape.com/article/218502-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Herpangina
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm
annotated source: herpangina
annotated property: definition

lepromatous leprosy
type: Class
subclass of: leprosy
definition: A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.
id: DOID:10887
database_cross_reference: ICD10CM:A30.5
database_cross_reference: ICD9CM:030.0
has_exact_synonym: Lepromatous leprosy (disorder)
has_exact_synonym: Lepromatous leprosy [type L]
database_cross_reference: MSH:D015440
database_cross_reference: SNOMEDCT_US_2015_03_01:21560005
database_cross_reference: UMLS_CUI:C0023348
has_obo_namespace: disease_ontology
has_exact_synonym: type L leprosy
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: Lepromatous leprosy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:21560005
annotated source: lepromatous leprosy
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:030.0
annotated target: type L leprosy
annotated source: lepromatous leprosy
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:030.0
annotated target: Lepromatous leprosy [type L]
annotated source: lepromatous leprosy
annotated property: has_exact_synonym

Axiom
annotated target: A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.
database_cross_reference: url:http://emedicine.medscape.com/article/1104977-clinical#a0217
annotated source: lepromatous leprosy
annotated property: definition

tethered spinal cord syndrome
type: Class
subclass of: DOID 319
id: DOID:1089
database_cross_reference: ICD10CM:Q05
database_cross_reference: ICD10CM:Q05.9
database_cross_reference: ICD9CM:741
database_cross_reference: MSH:D016135
database_cross_reference: NCI:C101214
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2015_03_01:156888006
database_cross_reference: SNOMEDCT_US_2015_03_01:204017003
database_cross_reference: SNOMEDCT_US_2015_03_01:67531005
database_cross_reference: UMLS_CUI:C0080178
has_obo_namespace: disease_ontology
has_exact_synonym: spinal dysraphism

hypospadias
type: Class
subclass of: physical disorder
definition: A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
id: DOID:10892
database_cross_reference: EFOpat_id:3299
database_cross_reference: ICD10CM:Q54
database_cross_reference: ICD10CM:Q54.9
database_cross_reference: MSH:D007021
database_cross_reference: NCI:C40341
database_cross_reference: OMIM:146450
database_cross_reference: OMIM:300633
database_cross_reference: OMIM:300758
database_cross_reference: OMIM:300856
database_cross_reference: ORDO:440
database_cross_reference: SNOMEDCT_US_2015_03_01:416010008
database_cross_reference: UMLS_CUI:C0848558
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: familial hypospadias
in_subset: DO MGI slim

Axiom
annotated target: A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypospadias
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=hypospadias
annotated source: hypospadias
annotated property: definition

leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
type: Class
id: DOID:10901
has_exact_synonym: Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb
has_exact_synonym: Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)
has_exact_synonym: Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:188648000
annotated source: leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:202.44
annotated target: Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb
annotated source: leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
annotated property: has_exact_synonym

Axiom
annotated target: Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:93147005
annotated source: leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
annotated property: has_exact_synonym

pulmonary actinomycosis
type: Class
definition: An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.
id: DOID:10902
has_obo_namespace: disease_ontology
has_exact_synonym: pulmonary actinomycotic infection
has_exact_synonym: thoracic actinomycosis
deprecated: true
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000074.htm
annotated source: pulmonary actinomycosis
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:039.1
annotated target: pulmonary actinomycotic infection
annotated source: pulmonary actinomycosis
annotated property: has_exact_synonym

microcephaly
type: Class
subclass of: DOID 2490
id: DOID:10907
database_cross_reference: ICD10CM:Q02
database_cross_reference: ICD9CM:742.1
database_cross_reference: MSH:D008831
has_exact_synonym: Microcephalus
database_cross_reference: NCI:C85874
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:251200
database_cross_reference: OMIM:604321
database_cross_reference: OMIM:604804
database_cross_reference: OMIM:608393
database_cross_reference: OMIM:608716
database_cross_reference: OMIM:612703
database_cross_reference: SNOMEDCT_US_2015_03_01:156893009
database_cross_reference: SNOMEDCT_US_2015_03_01:1829003
database_cross_reference: SNOMEDCT_US_2015_03_01:204030002
database_cross_reference: SNOMEDCT_US_2015_03_01:204031003
database_cross_reference: UMLS_CUI:C0025958
has_obo_namespace: disease_ontology
has_exact_synonym: microencephaly

Axiom
database_cross_reference: CSP2005:0723-5649
annotated target: microencephaly
annotated source: microcephaly
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:742.1
annotated target: Microcephalus
annotated source: microcephaly
annotated property: has_exact_synonym

hydrocephalus
type: Class
subclass of: DOID 1443
definition: A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
id: DOID:10908
database_cross_reference: ICD10CM:G91
database_cross_reference: ICD10CM:G91.9
database_cross_reference: MSH:D006849
database_cross_reference: NCI:C3111
database_cross_reference: OMIM:123155
database_cross_reference: OMIM:236600
database_cross_reference: OMIM:236635
database_cross_reference: OMIM:307000
database_cross_reference: OMIM:615219
database_cross_reference: ORDO:2182
database_cross_reference: ORDO:2185
database_cross_reference: SNOMEDCT_US_2015_03_01:154995000
database_cross_reference: SNOMEDCT_US_2015_03_01:154997008
database_cross_reference: SNOMEDCT_US_2015_03_01:192807008
database_cross_reference: SNOMEDCT_US_2015_03_01:230745008
database_cross_reference: SNOMEDCT_US_2015_03_01:267687006
database_cross_reference: UMLS_CUI:C0020255
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
has_exact_synonym: hydrocephalus, X-linked
has_exact_synonym: hydrocephalus, nonsyndromic, autosomal recessive
in_subset: DO MGI slim

Axiom
database_cross_reference: OMIM:236600
annotated target: hydrocephalus, nonsyndromic, autosomal recessive
annotated source: hydrocephalus
annotated property: has_exact_synonym

Axiom
annotated target: A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hydrocephalus
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=hydrocephalus
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956
annotated source: hydrocephalus
annotated property: definition

Axiom
database_cross_reference: MSH:C536078
annotated target: hydrocephalus, X-linked
annotated source: hydrocephalus
annotated property: has_exact_synonym

tooth disease
type: Class
subclass of: DOID 403
id: DOID:1091
database_cross_reference: MSH:D014076
database_cross_reference: NCI:C35077
database_cross_reference: SNOMEDCT_US_2015_03_01:155631000
database_cross_reference: SNOMEDCT_US_2015_03_01:234947003
database_cross_reference: SNOMEDCT_US_2015_03_01:266485001
database_cross_reference: SNOMEDCT_US_2015_03_01:367503003
database_cross_reference: SNOMEDCT_US_2015_03_01:72722003
database_cross_reference: UMLS_CUI:C0040435
has_exact_synonym: dental disorder
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: CSP2005:0828-0533
annotated target: dental disorder
annotated source: tooth disease
annotated property: has_exact_synonym

echovirus meningitis
type: Class
definition: A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness.
id: DOID:10910
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness.
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf
annotated source: echovirus meningitis
annotated property: definition

echovirus infectious disease
type: Class
definition: An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites.
id: DOID:10911
has_related_synonym: Enteric cytopathic human orphan virus infection
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites.
database_cross_reference: url:http://en.wikipedia.org/wiki/Echovirus
annotated source: echovirus infectious disease
annotated property: definition

benign essential hypertension
type: Class
subclass of: essential hypertension
id: DOID:10913
database_cross_reference: ICD9CM:401.1
database_cross_reference: NCI:C3656
database_cross_reference: SNOMEDCT_US_2015_03_01:1201005
database_cross_reference: SNOMEDCT_US_2015_03_01:194758001
database_cross_reference: UMLS_CUI:C0155583
has_exact_synonym: benign Essential hypertension
has_exact_synonym: benign essential hypertension (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:1201005
annotated target: benign essential hypertension (disorder)
annotated source: benign essential hypertension
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3656
annotated target: benign Essential hypertension
annotated source: benign essential hypertension
annotated property: has_exact_synonym

amnestic disorder
type: Class
subclass of: DOID 1561
definition: A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
has_exact_synonym: Amnestic syndrome
id: DOID:10914
has_alternative_id: DOID:4544
database_cross_reference: ICD10CM:R41.3
database_cross_reference: ICD9CM:294.0
has_exact_synonym: Korsakoff's psychosis or syndrome
database_cross_reference: MSH:D000647
database_cross_reference: NCI:C2867
database_cross_reference: SNOMEDCT_US_2015_03_01:162199006
database_cross_reference: SNOMEDCT_US_2015_03_01:247606008
database_cross_reference: SNOMEDCT_US_2015_03_01:3298001
database_cross_reference: SNOMEDCT_US_2015_03_01:386807006
database_cross_reference: SNOMEDCT_US_2015_03_01:48167000
database_cross_reference: SNOMEDCT_US_2015_03_01:78461004
database_cross_reference: UMLS_CUI:C0002622
database_cross_reference: UMLS_CUI:C0002625
has_exact_synonym: amnesia
has_obo_namespace: disease_ontology

Axiom
annotated target: Korsakoff's psychosis or syndrome
database_cross_reference: MTHICD9_2006:294.0
annotated source: amnestic disorder
annotated property: has_exact_synonym

Axiom
annotated target: A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
database_cross_reference: url:http://en.wikipedia.org/wiki/Amnesia
database_cross_reference: url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html
annotated source: amnestic disorder
annotated property: definition

Axiom
annotated target: Amnestic syndrome
database_cross_reference: NCI2004_11_17:C35764
annotated source: amnestic disorder
annotated property: has_exact_synonym

Wernicke-Korsakoff syndrome
type: Class
subclass of: DOID 5113
id: DOID:10915
has_exact_synonym: Korsakoff Syndrome
has_exact_synonym: Korsakoff's psychosis (disorder)
has_exact_synonym: Korsakoff's syndrome
has_exact_synonym: Korsakov psychosis
has_exact_synonym: Korsakov's psychosis
database_cross_reference: MSH:D020915
database_cross_reference: NCI:C35764
database_cross_reference: NCI:C84803
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:277730
database_cross_reference: SNOMEDCT_US_2015_03_01:154854002
database_cross_reference: SNOMEDCT_US_2015_03_01:191470004
database_cross_reference: SNOMEDCT_US_2015_03_01:191472007
database_cross_reference: SNOMEDCT_US_2015_03_01:268745002
database_cross_reference: SNOMEDCT_US_2015_03_01:69482004
database_cross_reference: UMLS_CUI:C0349464
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: CSP2005:2042-6017
annotated target: Korsakoff's syndrome
annotated source: Wernicke-Korsakoff syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Korsakoff's psychosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:69482004
annotated source: Wernicke-Korsakoff syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Korsakov's psychosis
database_cross_reference: SNOMEDCT_2005_07_31:268745002
annotated source: Wernicke-Korsakoff syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Korsakov psychosis
database_cross_reference: SNOMEDCT_2005_07_31:191470004
annotated source: Wernicke-Korsakoff syndrome
annotated property: has_exact_synonym

transsexuality with asexual history
type: Class
id: DOID:10918
has_exact_synonym: Trans-sexualism with asexual history
has_exact_synonym: Transsexuality with asexual history (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191783002
annotated target: Transsexuality with asexual history (disorder)
annotated source: transsexuality with asexual history
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:302.51
annotated target: Trans-sexualism with asexual history
annotated source: transsexuality with asexual history
annotated property: has_exact_synonym

transsexualism
type: Class
subclass of: DOID 1234
definition: A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
id: DOID:10919
database_cross_reference: ICD9CM:302.50
database_cross_reference: SNOMEDCT_US_2015_03_01:191782007
database_cross_reference: UMLS_CUI:C0040630
has_obo_namespace: disease_ontology

Axiom
annotated target: A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
database_cross_reference: url:http://en.wikipedia.org/wiki/Transsexualism
annotated source: transsexualism
annotated property: definition

Siberian tick typhus
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
has_alternative_id: DOID:0050054
has_alternative_id: DOID:0050055
id: DOID:10921
database_cross_reference: ICD10CM:A77.2
database_cross_reference: ICD9CM:082.2
has_exact_synonym: North Asian tick fever
has_exact_synonym: North Asian tick fever (disorder) [Ambiguous]
has_exact_synonym: North Asian tick fever NOS (disorder)
has_exact_synonym: North Asian tick typhus (disorder)
has_exact_synonym: Rickettsia sibirica spotted fever
database_cross_reference: SNOMEDCT_US_2015_03_01:186781003
database_cross_reference: SNOMEDCT_US_2015_03_01:186782005
database_cross_reference: SNOMEDCT_US_2015_03_01:186783000
database_cross_reference: SNOMEDCT_US_2015_03_01:7692008
has_exact_synonym: Siberian tick typhus (disorder)
database_cross_reference: UMLS_CUI:C0549160
has_obo_namespace: disease_ontology
has_exact_synonym: manchurian typhus
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: North Asian tick typhus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:186781003
annotated source: Siberian tick typhus
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186782005
annotated target: Siberian tick typhus (disorder)
annotated source: Siberian tick typhus
annotated property: has_exact_synonym

Axiom
annotated target: North Asian tick fever (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:7692008
annotated source: Siberian tick typhus
annotated property: has_exact_synonym

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: Siberian tick typhus
annotated property: definition

Axiom
annotated target: North Asian tick fever NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:186783000
annotated source: Siberian tick typhus
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:082.2
annotated target: North Asian tick fever
annotated source: Siberian tick typhus
annotated property: has_exact_synonym

sickle-cell crisis
type: Class
id: DOID:10922
has_exact_synonym: Hb-S disease with mention of crisis
has_exact_synonym: Hemoglobin S disease with crisis (disorder)
has_exact_synonym: Hemoglobin SS disease with crisis (disorder)
has_exact_synonym: Sickle cell anemia with crisis (disorder)
has_obo_namespace: disease_ontology
has_exact_synonym: sickle cell crisis
deprecated: true

Axiom
annotated target: Hemoglobin SS disease with crisis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:417425009
annotated source: sickle-cell crisis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1418-5715
annotated target: sickle cell crisis
annotated source: sickle-cell crisis
annotated property: has_exact_synonym

Axiom
annotated target: Hb-S disease with mention of crisis
database_cross_reference: ICD9CM_2006:282.62
annotated source: sickle-cell crisis
annotated property: has_exact_synonym

Axiom
annotated target: Hemoglobin S disease with crisis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:72279006
annotated source: sickle-cell crisis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191197002
annotated target: Sickle cell anemia with crisis (disorder)
annotated source: sickle-cell crisis
annotated property: has_exact_synonym

sickle cell anemia
type: Class
subclass of: autosomal recessive disease
id: DOID:10923
has_alternative_id: DOID:12924
has_alternative_id: DOID:13024
database_cross_reference: EFOpat_id:125
has_exact_synonym: Hb SC disease
has_exact_synonym: Hb-S/Hb-C disease
has_exact_synonym: Hb-SS disease without crisis
has_exact_synonym: Hemoglobin S disease without crisis (disorder)
database_cross_reference: ICD10CM:D57
database_cross_reference: ICD10CM:D57.1
database_cross_reference: ICD10CM:D57.2
database_cross_reference: ICD10CM:D57.20
database_cross_reference: ICD9CM:282.6
database_cross_reference: ICD9CM:282.60
database_cross_reference: ICD9CM:282.63
database_cross_reference: MSH:D000755
database_cross_reference: MSH:D006450
database_cross_reference: NCI:C34383
database_cross_reference: NCI:C34676
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:603903
database_cross_reference: SNOMEDCT_US_2015_03_01:127040003
database_cross_reference: SNOMEDCT_US_2015_03_01:154798006
database_cross_reference: SNOMEDCT_US_2015_03_01:191194009
database_cross_reference: SNOMEDCT_US_2015_03_01:191195005
database_cross_reference: SNOMEDCT_US_2015_03_01:191199004
database_cross_reference: SNOMEDCT_US_2015_03_01:276267006
database_cross_reference: SNOMEDCT_US_2015_03_01:35434009
database_cross_reference: SNOMEDCT_US_2015_03_01:417357006
database_cross_reference: SNOMEDCT_US_2015_03_01:80046004
has_exact_synonym: Sickle-cell/Hb-C disease without crisis
database_cross_reference: UMLS_CUI:C0002895
database_cross_reference: UMLS_CUI:C0019034
has_obo_namespace: disease_ontology
has_exact_synonym: drepanocytosis
has_exact_synonym: hemoglobin SC disease

Axiom
database_cross_reference: ICD9CM_2006:282.63
annotated target: Sickle-cell/Hb-C disease without crisis
annotated source: sickle cell anemia
annotated property: has_exact_synonym

Axiom
annotated target: Hb SC disease
database_cross_reference: SNOMEDCT_2005_07_31:35434009
annotated source: sickle cell anemia
annotated property: has_exact_synonym

Axiom
annotated target: Hemoglobin S disease without crisis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:21976009
annotated source: sickle cell anemia
annotated property: has_exact_synonym

Axiom
annotated target: Hb-S/Hb-C disease
database_cross_reference: MTHICD9_2006:282.63
annotated source: sickle cell anemia
annotated property: has_exact_synonym

catatonic type schizophrenia chronic state
type: Class
id: DOID:10924
has_obo_namespace: disease_ontology
deprecated: true

catatonic schizophrenia
type: Class
id: DOID:10925
has_obo_namespace: disease_ontology
deprecated: true

gastrojejunal ulcer
type: Class
subclass of: DOID 750
has_alternative_id: DOID:10926
id: DOID:10927
has_alternative_id: DOID:10928
has_alternative_id: DOID:10929
has_alternative_id: DOID:12230
has_alternative_id: DOID:12232
has_alternative_id: DOID:14085
has_alternative_id: DOID:14137
has_alternative_id: DOID:9522
has_alternative_id: DOID:9523
has_alternative_id: DOID:9524
database_cross_reference: ICD10CM:K28.0
database_cross_reference: ICD9CM:534.0
database_cross_reference: SNOMEDCT_US_2015_03_01:196709002
database_cross_reference: SNOMEDCT_US_2015_03_01:63954007
database_cross_reference: UMLS_CUI:C0156042
has_exact_synonym: acute gastrojejunal ulcer with hemorrhage
has_exact_synonym: acute gastrojejunal ulcer with hemorrhage AND obstruction
has_exact_synonym: acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder)
has_exact_synonym: acute gastrojejunal ulcer with hemorrhage AND perforation
has_exact_synonym: acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction
has_exact_synonym: acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder)
has_exact_synonym: acute gastrojejunal ulcer with perforation
has_exact_synonym: acute gastrojejunal ulcer with perforation AND obstruction
has_exact_synonym: acute gastrojejunal ulcer with perforation AND obstruction (disorder)
has_exact_synonym: acute gastrojejunal ulcer with perforation, with obstruction
has_exact_synonym: acute gastrojejunal ulcer without hemorrhage AND without perforation
has_exact_synonym: acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
has_exact_synonym: acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)
has_exact_synonym: acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
has_exact_synonym: acute gastrojejunal ulcer, with hemorrhage, with obstruction
has_exact_synonym: chronic gastrojejunal ulcer without hemorrhage AND without perforation
has_exact_synonym: chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
has_exact_synonym: chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)
has_exact_synonym: chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:534.11
annotated target: acute gastrojejunal ulcer with perforation, with obstruction
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:72408002
annotated target: acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder)
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:58711008
annotated target: acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder)
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:534.70
annotated target: chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:534.30
annotated target: acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:72219001
annotated target: acute gastrojejunal ulcer with perforation AND obstruction (disorder)
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:534.01
annotated target: acute gastrojejunal ulcer, with hemorrhage, with obstruction
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:41626001
annotated target: chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:77987006
annotated target: acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder)
annotated source: gastrojejunal ulcer
annotated property: has_exact_synonym

borderline personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
id: DOID:10930
database_cross_reference: ICD10CM:F60.3
database_cross_reference: ICD9CM:301.83
database_cross_reference: MSH:D001883
database_cross_reference: NCI:C92633
database_cross_reference: SNOMEDCT_US_2015_03_01:192488005
database_cross_reference: SNOMEDCT_US_2015_03_01:20010003
database_cross_reference: UMLS_CUI:C0006012
has_obo_namespace: disease_ontology

Axiom
annotated target: A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
database_cross_reference: url:http://en.wikipedia.org/wiki/Borderline_personality_disorder
annotated source: borderline personality disorder
annotated property: definition

dependent personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that is characterized by a pervasive psychological dependence on other people.
id: DOID:10931
database_cross_reference: ICD10CM:F60.7
database_cross_reference: ICD9CM:301.6
database_cross_reference: MSH:D003859
database_cross_reference: NCI:C92637
database_cross_reference: SNOMEDCT_US_2015_03_01:191768007
database_cross_reference: SNOMEDCT_US_2015_03_01:192492003
database_cross_reference: SNOMEDCT_US_2015_03_01:84466009
database_cross_reference: UMLS_CUI:C0011548
has_obo_namespace: disease_ontology

Axiom
annotated target: A personality disorder that is characterized by a pervasive psychological dependence on other people.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dependent_personality_disorder
annotated source: dependent personality disorder
annotated property: definition

obsessive-compulsive personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
has_related_synonym: Anankastic personality disorder
id: DOID:10932
database_cross_reference: ICD10CM:F60.5
database_cross_reference: ICD9CM:301.4
database_cross_reference: MSH:D003193
database_cross_reference: NCI:C92638
has_exact_synonym: OCPD
has_related_synonym: Obsessional personality
database_cross_reference: SNOMEDCT_US_2015_03_01:112091009
database_cross_reference: SNOMEDCT_US_2015_03_01:1376001
database_cross_reference: SNOMEDCT_US_2015_03_01:154899005
database_cross_reference: SNOMEDCT_US_2015_03_01:191760000
database_cross_reference: SNOMEDCT_US_2015_03_01:191761001
database_cross_reference: SNOMEDCT_US_2015_03_01:191762008
database_cross_reference: SNOMEDCT_US_2015_03_01:192490006
database_cross_reference: SNOMEDCT_US_2015_03_01:271200007
database_cross_reference: UMLS_CUI:C0009595
has_obo_namespace: disease_ontology

Axiom
annotated target: Anankastic personality disorder
database_cross_reference: SNOMEDCT_2005_07_31:191762008
annotated source: obsessive-compulsive personality disorder
annotated property: has_related_synonym

Axiom
annotated target: A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
database_cross_reference: url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder
annotated source: obsessive-compulsive personality disorder
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:301.4
annotated target: Obsessional personality
annotated source: obsessive-compulsive personality disorder
annotated property: has_related_synonym

obsessive-compulsive disorder
type: Class
subclass of: DOID 2030
definition: An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
has_exact_synonym: Anancastic neurosis
id: DOID:10933
database_cross_reference: ICD10CM:F42
database_cross_reference: ICD9CM:300.3
database_cross_reference: MSH:D009771
database_cross_reference: NCI:C88411
database_cross_reference: SNOMEDCT_US_2015_03_01:191736004
database_cross_reference: SNOMEDCT_US_2015_03_01:191739006
database_cross_reference: SNOMEDCT_US_2015_03_01:192406007
database_cross_reference: SNOMEDCT_US_2015_03_01:192411009
database_cross_reference: SNOMEDCT_US_2015_03_01:71478004
database_cross_reference: UMLS_CUI:C0028768
has_obo_namespace: disease_ontology
has_exact_synonym: obsessive compulsive disorder

Axiom
annotated target: An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001926/
annotated source: obsessive-compulsive disorder
annotated property: definition

Axiom
annotated target: Anancastic neurosis
database_cross_reference: MTHICD9_2006:300.3
annotated source: obsessive-compulsive disorder
annotated property: has_exact_synonym

multiple personality disorder
type: Class
subclass of: dissociative disorder
definition: A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
id: DOID:10934
has_exact_synonym: Dissociative identity disorder
database_cross_reference: ICD10CM:F44.81
database_cross_reference: ICD9CM:300.14
database_cross_reference: MSH:D009105
database_cross_reference: NCI:C94330
database_cross_reference: SNOMEDCT_US_2015_03_01:192428007
database_cross_reference: SNOMEDCT_US_2015_03_01:31611000
database_cross_reference: UMLS_CUI:C0026773
has_obo_namespace: disease_ontology

Axiom
annotated target: A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
database_cross_reference: url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder
annotated source: multiple personality disorder
annotated property: definition

Axiom
annotated target: Dissociative identity disorder
database_cross_reference: ICD9CM_2006:300.14
annotated source: multiple personality disorder
annotated property: has_exact_synonym

dissociative disorder
type: Class
subclass of: DOID 150
definition: A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
id: DOID:10935
has_alternative_id: DOID:4963
database_cross_reference: ICD10CM:F44.9
database_cross_reference: ICD10CM:F48.9
database_cross_reference: ICD9CM:300.15
database_cross_reference: ICD9CM:300.9
database_cross_reference: MSH:D004213
database_cross_reference: NCI:C92197
database_cross_reference: SNOMEDCT_US_2015_03_01:154883004
database_cross_reference: SNOMEDCT_US_2015_03_01:44376007
database_cross_reference: UMLS_CUI:C0012746
database_cross_reference: UMLS_CUI:C0041857
has_obo_namespace: disease_ontology
has_exact_synonym: dissociative disease
has_exact_synonym: dissociative reaction

Axiom
database_cross_reference: CSP2005:2483-7018
annotated target: dissociative reaction
annotated source: dissociative disorder
annotated property: has_exact_synonym

Axiom
annotated target: A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
database_cross_reference: url:http://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html
annotated source: dissociative disorder
annotated property: definition

schizoid personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
id: DOID:10936
database_cross_reference: ICD10CM:F60.1
database_cross_reference: ICD9CM:301.2
database_cross_reference: ICD9CM:301.20
database_cross_reference: MSH:D012557
database_cross_reference: NCI:C92631
database_cross_reference: SNOMEDCT_US_2015_03_01:191756003
database_cross_reference: SNOMEDCT_US_2015_03_01:191758002
database_cross_reference: SNOMEDCT_US_2015_03_01:192486009
database_cross_reference: SNOMEDCT_US_2015_03_01:52954000
database_cross_reference: UMLS_CUI:C0036339
has_obo_namespace: disease_ontology

Axiom
annotated target: A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
database_cross_reference: url:http://en.wikipedia.org/wiki/Schizoid_personality_disorder
annotated source: schizoid personality disorder
annotated property: definition

impulse control disorder
type: Class
subclass of: DOID 150
definition: A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
id: DOID:10937
database_cross_reference: ICD10CM:F63.9
database_cross_reference: ICD9CM:312.30
database_cross_reference: MSH:D007174
database_cross_reference: NCI:C34723
database_cross_reference: SNOMEDCT_US_2015_03_01:192095006
database_cross_reference: SNOMEDCT_US_2015_03_01:192098008
database_cross_reference: SNOMEDCT_US_2015_03_01:66347000
database_cross_reference: UMLS_CUI:C0021122
has_obo_namespace: disease_ontology

Axiom
annotated target: A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
database_cross_reference: url:http://www.forensicpsychiatry.ca/impulse/overview.htm
annotated source: impulse control disorder
annotated property: definition

paranoid personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
id: DOID:10938
database_cross_reference: ICD10CM:F60.0
database_cross_reference: ICD9CM:301.0
database_cross_reference: MSH:D010260
database_cross_reference: NCI:C92630
database_cross_reference: SNOMEDCT_US_2015_03_01:13601005
database_cross_reference: SNOMEDCT_US_2015_03_01:154896003
database_cross_reference: SNOMEDCT_US_2015_03_01:191750009
database_cross_reference: SNOMEDCT_US_2015_03_01:192485008
database_cross_reference: SNOMEDCT_US_2015_03_01:270529002
database_cross_reference: UMLS_CUI:C0030477
has_obo_namespace: disease_ontology

Axiom
annotated target: A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
database_cross_reference: url:http://en.wikipedia.org/wiki/Paranoid_personality_disorder
annotated source: paranoid personality disorder
annotated property: definition

antisocial personality disorder
type: Class
subclass of: DOID 1510
definition: A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
has_exact_synonym: Asocial personality
id: DOID:10939
has_exact_synonym: Dissocial personality disorder
database_cross_reference: ICD10CM:F60.2
database_cross_reference: ICD9CM:301.7
database_cross_reference: MSH:D000987
database_cross_reference: NCI:C88413
has_exact_synonym: Psychopath.personality
has_exact_synonym: Psychopathic personality
has_exact_synonym: Psychopathic personality disorder
database_cross_reference: SNOMEDCT_US_2015_03_01:191769004
database_cross_reference: SNOMEDCT_US_2015_03_01:191777000
database_cross_reference: SNOMEDCT_US_2015_03_01:192487000
database_cross_reference: SNOMEDCT_US_2015_03_01:26665006
database_cross_reference: SNOMEDCT_US_2015_03_01:268759009
database_cross_reference: UMLS_CUI:C0003431
has_obo_namespace: disease_ontology
has_exact_synonym: sociopathic personality

Axiom
annotated target: Psychopath.personality
database_cross_reference: SNOMEDCT_2005_07_31:268759009
annotated source: antisocial personality disorder
annotated property: has_exact_synonym

Axiom
annotated target: Dissocial personality disorder
database_cross_reference: SNOMEDCT_2005_07_31:192487000
annotated source: antisocial personality disorder
annotated property: has_exact_synonym

Axiom
annotated target: A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
database_cross_reference: url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder
annotated source: antisocial personality disorder
annotated property: definition

Axiom
annotated target: Psychopathic personality
database_cross_reference: SNOMEDCT_2005_07_31:191777000
annotated source: antisocial personality disorder
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2483-7185
annotated target: sociopathic personality
annotated source: antisocial personality disorder
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:301.9
annotated target: Psychopathic personality disorder
annotated source: antisocial personality disorder
annotated property: has_exact_synonym

Axiom
annotated target: Asocial personality
database_cross_reference: MTHICD9_2006:301.7
annotated source: antisocial personality disorder
annotated property: has_exact_synonym

attention deficit hyperactivity disorder
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age.
has_exact_synonym: ADHD
has_alternative_id: DOID:1093
id: DOID:1094
database_cross_reference: EFO:0003888
database_cross_reference: ICD9CM:314.8
database_cross_reference: MSH:D001289
database_cross_reference: NCI:C35092
database_cross_reference: OMIM:143465
database_cross_reference: OMIM:608903
database_cross_reference: OMIM:608904
database_cross_reference: OMIM:608905
database_cross_reference: OMIM:608906
database_cross_reference: OMIM:612311
database_cross_reference: OMIM:612312
database_cross_reference: OMIM:613003
database_cross_reference: UMLS_CUI:C0041671
database_cross_reference: UMLS_CUI:C0154629
comment: Xref MGI.
has_exact_synonym: attention deficit disorder
has_obo_namespace: disease_ontology
has_exact_synonym: hyperkinetic disorder
in_subset: DO MGI slim

Axiom
annotated target: A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age.
database_cross_reference: url:http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder
annotated source: attention deficit hyperactivity disorder
annotated property: definition

intracranial aneurysm
type: Class
subclass of: DOID 3527
id: DOID:10941
database_cross_reference: EFO:0003870
database_cross_reference: MSH:D002532
database_cross_reference: NCI:C34458
database_cross_reference: SNOMEDCT_US_2015_03_01:128609009
database_cross_reference: SNOMEDCT_US_2015_03_01:42994005
database_cross_reference: UMLS_CUI:C0007766
has_exact_synonym: brain aneurysm
has_obo_namespace: disease_ontology

tongue disease
type: Class
subclass of: DOID 403
id: DOID:10944
database_cross_reference: ICD10CM:K14
database_cross_reference: ICD10CM:K14.9
database_cross_reference: ICD9CM:529.9
database_cross_reference: MSH:D014060
database_cross_reference: SNOMEDCT_US_2015_03_01:155533008
database_cross_reference: SNOMEDCT_US_2015_03_01:155665004
database_cross_reference: SNOMEDCT_US_2015_03_01:155667007
database_cross_reference: SNOMEDCT_US_2015_03_01:196595001
database_cross_reference: SNOMEDCT_US_2015_03_01:266496009
database_cross_reference: SNOMEDCT_US_2015_03_01:69244009
database_cross_reference: UMLS_CUI:C0040409
has_obo_namespace: disease_ontology

nephritis
type: Class
subclass of: DOID 557
id: DOID:10952
database_cross_reference: ICD10CM:N05
database_cross_reference: ICD10CM:N08
database_cross_reference: MSH:D009393
database_cross_reference: NCI:C26833
database_cross_reference: SNOMEDCT_US_2015_03_01:155853001
database_cross_reference: SNOMEDCT_US_2015_03_01:266615001
database_cross_reference: SNOMEDCT_US_2015_03_01:274107001
database_cross_reference: SNOMEDCT_US_2015_03_01:52845002
database_cross_reference: UMLS_CUI:C0027697
has_obo_namespace: disease_ontology

strongyloidiasis
type: Class
subclass of: DOID 883
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
has_alternative_id: DOID:0050008
id: DOID:10955
database_cross_reference: ICD10CM:B78
database_cross_reference: ICD10CM:B78.9
database_cross_reference: ICD9CM:127.2
has_exact_synonym: Infection by Strongyloides (disorder)
database_cross_reference: MSH:D013322
database_cross_reference: SNOMEDCT_US_2015_03_01:1214006
database_cross_reference: SNOMEDCT_US_2015_03_01:187177001
database_cross_reference: SNOMEDCT_US_2015_03_01:187537002
database_cross_reference: UMLS_CUI:C0038463
has_obo_namespace: disease_ontology
has_exact_synonym: disseminated strongyloidiasis

Axiom
annotated target: Infection by Strongyloides (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:1214006
annotated source: strongyloidiasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Strongyloidiasis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm
annotated source: strongyloidiasis
annotated property: definition

Enterobacter aerogenes intestinal infectious disease
type: Class
definition: An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.
id: DOID:10957
has_obo_namespace: disease_ontology
has_exact_synonym: intestinal infection due to aerobacter aerogenes
deprecated: true

Axiom
annotated target: An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.
database_cross_reference: url:http://emedicine.medscape.com/article/216845-overview
annotated source: Enterobacter aerogenes intestinal infectious disease
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:008.2
annotated target: intestinal infection due to aerobacter aerogenes
annotated source: Enterobacter aerogenes intestinal infectious disease
annotated property: has_exact_synonym

Salmonella arizonae intestinal infectious disease
type: Class
definition: A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea.
id: DOID:10958
has_obo_namespace: disease_ontology
has_exact_synonym: intestinal infectious disease due to arizona group of paracolon bacilli
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/14662995
annotated source: Salmonella arizonae intestinal infectious disease
annotated property: definition

Escherichia coli intestinal infectious disease
type: Class
definition: A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting.
id: DOID:10959
has_obo_namespace: disease_ontology
has_exact_synonym: intestinal infectious disease due to Escherichia coli
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting.
database_cross_reference: url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs125/en/
annotated source: Escherichia coli intestinal infectious disease
annotated property: definition

cholesteatoma of attic
type: Class
subclass of: cholesteatoma of middle ear
id: DOID:10963
database_cross_reference: ICD10CM:H71.0
database_cross_reference: ICD10CM:H71.00
database_cross_reference: ICD9CM:385.31
database_cross_reference: SNOMEDCT_US_2015_03_01:38708003
database_cross_reference: UMLS_CUI:C0155489
has_obo_namespace: disease_ontology

cholesteatoma of middle ear
type: Class
subclass of: DOID 5100
subclass of: DOID 869
has_exact_synonym: Cholesteatoma of middle ear
has_exact_synonym: Cholesteatoma of middle ear (disorder)
has_exact_synonym: Cholesteatoma of middle ear and mastoid
has_exact_synonym: Cholesteatoma of middle ear and/or mastoid
has_exact_synonym: Cholesteatoma of the middle ear
id: DOID:10964
has_alternative_id: DOID:11433
has_exact_synonym: Epidermosis of ear
has_exact_synonym: Epidermosis of middle ear
database_cross_reference: ICD10CM:H71
database_cross_reference: ICD9CM:385.32
database_cross_reference: ICD9CM:385.33
database_cross_reference: MSH:D018424
database_cross_reference: NCI:C3654
database_cross_reference: SNOMEDCT_US_2015_03_01:194339007
database_cross_reference: SNOMEDCT_US_2015_03_01:194340009
database_cross_reference: SNOMEDCT_US_2015_03_01:360584008
database_cross_reference: SNOMEDCT_US_2015_03_01:39911004
database_cross_reference: SNOMEDCT_US_2015_03_01:87688009
database_cross_reference: UMLS_CUI:C0008374
database_cross_reference: UMLS_CUI:C0155490
has_exact_synonym: Unspecified cholesteatoma (morphologic abnormality)
has_obo_namespace: disease_ontology
has_exact_synonym: middle ear cholesteatoma

Axiom
annotated target: Epidermosis of middle ear
database_cross_reference: SNOMEDCT_2005_07_31:39911004
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194338004
annotated target: Unspecified cholesteatoma (morphologic abnormality)
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
annotated target: Cholesteatoma of the middle ear
database_cross_reference: NCI2004_11_17:C3654
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
annotated target: Cholesteatoma of middle ear and/or mastoid
database_cross_reference: SNOMEDCT_2005_07_31:39911004
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
annotated target: Cholesteatoma of middle ear (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:87688009
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
annotated target: Cholesteatoma of middle ear and mastoid
database_cross_reference: ICD9CM_2006:385.33
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
annotated target: Epidermosis of ear
database_cross_reference: MTHICD9_2006:385.3
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

Axiom
annotated target: Cholesteatoma of middle ear
database_cross_reference: ICD9CM_2006:385.32
annotated source: cholesteatoma of middle ear
annotated property: has_exact_synonym

spastic diplegia
type: Class
subclass of: spastic cerebral palsy
definition: A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
id: DOID:10965
has_alternative_id: DOID:3778
has_exact_synonym: Diplegic infantile cerebral palsy
database_cross_reference: ICD10CM:G80.1
database_cross_reference: ICD9CM:343.0
has_exact_synonym: Infantile spastic cerebral palsy
has_exact_synonym: Little's disease
has_exact_synonym: Littles disease
database_cross_reference: MSH:D002547
database_cross_reference: NCI:C34781
database_cross_reference: SNOMEDCT_US_2015_03_01:1178005
database_cross_reference: SNOMEDCT_US_2015_03_01:192947000
database_cross_reference: SNOMEDCT_US_2015_03_01:275469001
database_cross_reference: SNOMEDCT_US_2015_03_01:281411007
has_exact_synonym: Spastic Diplegia
has_exact_synonym: Spastic diplegia (disorder)
database_cross_reference: UMLS_CUI:C0023882
database_cross_reference: UMLS_CUI:C0154695
has_exact_synonym: cerebral spastic infantile paralysis
has_obo_namespace: disease_ontology
has_exact_synonym: infantile diplegic cerebral palsy

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:281411007
annotated target: Spastic diplegia (disorder)
annotated source: spastic diplegia
annotated property: has_exact_synonym

Axiom
annotated target: Littles disease
database_cross_reference: SNOMEDCT_2005_07_31:192947000
annotated source: spastic diplegia
annotated property: has_exact_synonym

Axiom
annotated target: Diplegic infantile cerebral palsy
database_cross_reference: ICD9CM_2006:343.0
annotated source: spastic diplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile spastic cerebral palsy
database_cross_reference: SNOMEDCT_2005_07_31:1178005
annotated source: spastic diplegia
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0723-4729
annotated target: cerebral spastic infantile paralysis
annotated source: spastic diplegia
annotated property: has_exact_synonym

Axiom
annotated target: A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
database_cross_reference: url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic
annotated source: spastic diplegia
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C34781
annotated target: Spastic Diplegia
annotated source: spastic diplegia
annotated property: has_exact_synonym

lipoid nephrosis
type: Class
subclass of: DOID 1184
subclass of: DOID 2921
id: DOID:10966
database_cross_reference: ICD10CM:N04
database_cross_reference: MSH:D009402
has_exact_synonym: Minimal Change Glomerulonephritis
has_exact_synonym: Minimal change disease (disorder)
has_exact_synonym: Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis
has_exact_synonym: Nephrotic syndrome with lesion of minimal change glomerulonephritis
has_exact_synonym: Nephrotic syndrome with lesion of minimal change nephrotic syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:197592009
database_cross_reference: SNOMEDCT_US_2015_03_01:44785005
database_cross_reference: UMLS_CUI:C0027721
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C35540
annotated target: Nephrotic syndrome with Lesion of Minimal Change Glomerulonephritis
annotated source: lipoid nephrosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:581.3
annotated target: Nephrotic syndrome with lesion of minimal change glomerulonephritis
annotated source: lipoid nephrosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:581.3
annotated target: Nephrotic syndrome with lesion of minimal change nephrotic syndrome
annotated source: lipoid nephrosis
annotated property: has_exact_synonym

Axiom
annotated target: Minimal Change Glomerulonephritis
database_cross_reference: NCI2004_11_17:C34844
annotated source: lipoid nephrosis
annotated property: has_exact_synonym

Axiom
annotated target: Minimal change disease (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:44785005
annotated source: lipoid nephrosis
annotated property: has_exact_synonym

spastic hemiplegia
type: Class
subclass of: spastic cerebral palsy
definition: A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
has_exact_synonym: Congenital hemiplegia
id: DOID:10967
has_exact_synonym: Hemiplegic cerebral palsy (disorder)
has_exact_synonym: Hemiplegic infantile cerebral palsy
database_cross_reference: ICD9CM:343.1
database_cross_reference: SNOMEDCT_US_2015_03_01:258714003
database_cross_reference: SNOMEDCT_US_2015_03_01:43486001
database_cross_reference: UMLS_CUI:C0270805
has_obo_namespace: disease_ontology
has_exact_synonym: hemiplegic cerebral palsy
has_exact_synonym: spastic hemiplegic cerebral palsy

Axiom
annotated target: Hemiplegic infantile cerebral palsy
database_cross_reference: ICD9CM_2006:343.1
annotated source: spastic hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Hemiplegic cerebral palsy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:43486001
annotated source: spastic hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Congenital hemiplegia
database_cross_reference: MTHICD9_2006:343.1
annotated source: spastic hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
database_cross_reference: url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic
annotated source: spastic hemiplegia
annotated property: definition

spastic monoplegia
type: Class
subclass of: spastic cerebral palsy
definition: A spastic cerebral palsy that affects only one limb.
id: DOID:10968
database_cross_reference: ICD9CM:343.3
database_cross_reference: MSH:D002547
has_exact_synonym: Monoplegic infantile cerebral palsy
database_cross_reference: UMLS_CUI:C0154698
has_obo_namespace: disease_ontology
has_exact_synonym: infantile monoplegic cerebral palsy
has_exact_synonym: spastic monoplegic cerebral palsy

Axiom
database_cross_reference: ICD9CM_2006:343.3
annotated target: Monoplegic infantile cerebral palsy
annotated source: spastic monoplegia
annotated property: has_exact_synonym

Axiom
annotated target: A spastic cerebral palsy that affects only one limb.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic
annotated source: spastic monoplegia
annotated property: definition

hemiplegia
type: Class
subclass of: DOID 331
id: DOID:10969
database_cross_reference: ICD9CM:343.4
has_exact_synonym: Infantile hemiplegia
has_exact_synonym: Infantile hemiplegia (disorder)
has_exact_synonym: Infantile hemiplegia NOS
has_exact_synonym: Infantile hemiplegia NOS (disorder)
has_exact_synonym: Infantile hemiplegia [Ambiguous]
database_cross_reference: MSH:D006429
has_exact_synonym: Postnatal infantile hemiplegia NOS
database_cross_reference: SNOMEDCT_US_2015_03_01:155024003
database_cross_reference: SNOMEDCT_US_2015_03_01:155025002
database_cross_reference: SNOMEDCT_US_2015_03_01:155026001
database_cross_reference: SNOMEDCT_US_2015_03_01:1593000
database_cross_reference: SNOMEDCT_US_2015_03_01:192952005
database_cross_reference: SNOMEDCT_US_2015_03_01:192955007
database_cross_reference: SNOMEDCT_US_2015_03_01:267696006
database_cross_reference: UMLS_CUI:C0392550
has_obo_namespace: disease_ontology

Axiom
annotated target: Infantile hemiplegia
database_cross_reference: SNOMEDCT_2005_07_31:267696006
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:343.4
annotated target: Postnatal infantile hemiplegia NOS
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:343.4
annotated target: Infantile hemiplegia
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile hemiplegia
database_cross_reference: SNOMEDCT_2005_07_31:155025002
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile hemiplegia [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:192952005
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile hemiplegia
database_cross_reference: SNOMEDCT_2005_07_31:155024003
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile hemiplegia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:1593000
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile hemiplegia NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:192955007
annotated source: hemiplegia
annotated property: has_exact_synonym

Axiom
annotated target: Infantile hemiplegia NOS
database_cross_reference: SNOMEDCT_2005_07_31:155026001
annotated source: hemiplegia
annotated property: has_exact_synonym

hydrops fetalis
type: Class
id: DOID:1097
definition: Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis.
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis.
database_cross_reference: stedman:rlc
annotated source: hydrops fetalis
annotated property: definition

spastic quadriplegia
type: Class
subclass of: spastic cerebral palsy
definition: A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.
id: DOID:10970
database_cross_reference: ICD9CM:343.2
database_cross_reference: MSH:D002547
database_cross_reference: OMIM:603513
database_cross_reference: OMIM:612900
database_cross_reference: ORDO:210141
database_cross_reference: SNOMEDCT_US_2015_03_01:192953000
database_cross_reference: SNOMEDCT_US_2015_03_01:275468009
database_cross_reference: UMLS_CUI:C0154697
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: quadriplegic infantile cerebral palsy
has_exact_synonym: spastic quadriplegic cerebral palsy
has_exact_synonym: tetraplegic infantile cerebral palsy
in_subset: DO MGI slim

Axiom
database_cross_reference: ICD9CM_2006:343.2
annotated target: quadriplegic infantile cerebral palsy
annotated source: spastic quadriplegia
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:343.2
annotated target: tetraplegic infantile cerebral palsy
annotated source: spastic quadriplegia
annotated property: has_exact_synonym

Axiom
annotated target: A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.
database_cross_reference: url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic
annotated source: spastic quadriplegia
annotated property: definition

acute salpingo-oophoritis
type: Class
subclass of: salpingo-oophoritis
id: DOID:10971
database_cross_reference: ICD10CM:N70.0
database_cross_reference: ICD10CM:N70.03
database_cross_reference: ICD9CM:614.0
database_cross_reference: SNOMEDCT_US_2015_03_01:155969007
database_cross_reference: SNOMEDCT_US_2015_03_01:198132003
database_cross_reference: SNOMEDCT_US_2015_03_01:198134002
database_cross_reference: SNOMEDCT_US_2015_03_01:198139007
database_cross_reference: SNOMEDCT_US_2015_03_01:266581008
database_cross_reference: UMLS_CUI:C0156327
has_exact_synonym: acute salpingitis &/or oophoritis
has_exact_synonym: acute salpingitis and oophoritis
has_exact_synonym: acute salpingitis and oophoritis NOS (disorder)
has_exact_synonym: acute salpingo-oophoritis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266581008
annotated target: acute salpingo-oophoritis (disorder)
annotated source: acute salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198132003
annotated target: acute salpingitis &/or oophoritis
annotated source: acute salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:614.0
annotated target: acute salpingitis and oophoritis
annotated source: acute salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198139007
annotated target: acute salpingitis and oophoritis NOS (disorder)
annotated source: acute salpingo-oophoritis
annotated property: has_exact_synonym

salpingo-oophoritis
type: Class
subclass of: oophoritis
subclass of: DOID 5733
id: DOID:10972
database_cross_reference: ICD10CM:N70
database_cross_reference: ICD10CM:N70.9
database_cross_reference: ICD10CM:N70.93
database_cross_reference: ICD9CM:614.2
database_cross_reference: SNOMEDCT_US_2015_03_01:155971007
database_cross_reference: SNOMEDCT_US_2015_03_01:198147007
database_cross_reference: SNOMEDCT_US_2015_03_01:198150005
database_cross_reference: SNOMEDCT_US_2015_03_01:198153007
database_cross_reference: SNOMEDCT_US_2015_03_01:266650009
database_cross_reference: SNOMEDCT_US_2015_03_01:46536000
has_exact_synonym: Salpingitis and oophoritis not specified as acute, subacute, or chronic
has_exact_synonym: Salpingitis and oophoritis unspecified (disorder)
has_exact_synonym: Salpingitis/oophoritis NOS
has_exact_synonym: Salpingitis/oophoritis NOS (disorder)
has_exact_synonym: Salpingo-oophoritis unspecified (disorder)
has_exact_synonym: Tubo-ovarian inflammatory disease
has_exact_synonym: Tubo-ovarian inflammatory disease (disorder)
database_cross_reference: UMLS_CUI:C0036133
has_exact_synonym: Unspecified salpingitis and oophoritis NOS (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:614.2
annotated target: Tubo-ovarian inflammatory disease
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:614.2
annotated target: Salpingitis and oophoritis not specified as acute, subacute, or chronic
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155971007
annotated target: Salpingitis/oophoritis NOS
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266650009
annotated target: Salpingitis/oophoritis NOS (disorder)
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198147007
annotated target: Salpingitis and oophoritis unspecified (disorder)
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:46536000
annotated target: Tubo-ovarian inflammatory disease (disorder)
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198150005
annotated target: Salpingo-oophoritis unspecified (disorder)
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:198153007
annotated target: Unspecified salpingitis and oophoritis NOS (disorder)
annotated source: salpingo-oophoritis
annotated property: has_exact_synonym

acute salpingitis
type: Class
subclass of: DOID 5733
id: DOID:10973
database_cross_reference: ICD10CM:N70.01
database_cross_reference: NCI:C40120
database_cross_reference: SNOMEDCT_US_2015_03_01:8912009
database_cross_reference: UMLS_CUI:C0269038
has_exact_synonym: acute Salpingitis
has_exact_synonym: acute salpingitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:8912009
annotated target: acute salpingitis (disorder)
annotated source: acute salpingitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C40120
annotated target: acute Salpingitis
annotated source: acute salpingitis
annotated property: has_exact_synonym

oophoritis
type: Class
subclass of: ovarian disease
id: DOID:10974
database_cross_reference: ICD10CM:N70.92
database_cross_reference: MSH:D009869
has_exact_synonym: Oophoritis (disorder)
has_exact_synonym: Oophoritis unspecified (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:155968004
database_cross_reference: SNOMEDCT_US_2015_03_01:198148002
database_cross_reference: SNOMEDCT_US_2015_03_01:266648001
database_cross_reference: SNOMEDCT_US_2015_03_01:76047005
database_cross_reference: UMLS_CUI:C0029051
has_obo_namespace: disease_ontology

Axiom
annotated target: Oophoritis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:76047005
annotated source: oophoritis
annotated property: has_exact_synonym

Axiom
annotated target: Oophoritis unspecified (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:198148002
annotated source: oophoritis
annotated property: has_exact_synonym

membranous glomerulonephritis
type: Class
subclass of: DOID 2921
id: DOID:10976
database_cross_reference: EFO:0004254
database_cross_reference: ICD10CM:N03.2
database_cross_reference: MSH:D015433
has_exact_synonym: Membranous Glomerulonephritis
has_exact_synonym: Membranous glomerulonephritis
has_exact_synonym: Membranous glomerulonephritis (disorder)
has_exact_synonym: Membranous nephropathy NOS
database_cross_reference: NCI:C34645
database_cross_reference: SNOMEDCT_US_2015_03_01:197710000
database_cross_reference: SNOMEDCT_US_2015_03_01:77182004
database_cross_reference: UMLS_CUI:C0017665
has_obo_namespace: disease_ontology
has_exact_synonym: membranous nephropathy

Axiom
annotated target: Membranous glomerulonephritis
database_cross_reference: SNOMEDCT_2005_07_31:197710000
annotated source: membranous glomerulonephritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:583.1
annotated target: Membranous nephropathy NOS
annotated source: membranous glomerulonephritis
annotated property: has_exact_synonym

Axiom
annotated target: Membranous glomerulonephritis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:77182004
annotated source: membranous glomerulonephritis
annotated property: has_exact_synonym

Axiom
annotated target: Membranous Glomerulonephritis
database_cross_reference: NCI2004_11_17:C34645
annotated source: membranous glomerulonephritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:4006-0062
annotated target: membranous nephropathy
annotated source: membranous glomerulonephritis
annotated property: has_exact_synonym

poliovirus type III nonparalytic poliomyelitis
type: Class
definition: A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
id: DOID:10978
has_exact_synonym: acute nonparalytic poliomyelitis poliovirus type III
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
database_cross_reference: url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf
annotated source: poliovirus type III nonparalytic poliomyelitis
annotated property: definition

poliovirus type I nonparalytic poliomyelitis
type: Class
definition: A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
id: DOID:10979
has_exact_synonym: acute nonparalytic poliomyelitis poliovirus type I
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
database_cross_reference: url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf
annotated source: poliovirus type I nonparalytic poliomyelitis
annotated property: definition

fetal erythroblastosis
type: Class
subclass of: microcytic anemia
has_exact_synonym: (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)
id: DOID:1098
has_exact_synonym: EF - Erythroblastosis foetalis
database_cross_reference: ICD10CM:P55
database_cross_reference: ICD10CM:P55.9
database_cross_reference: ICD9CM:773
database_cross_reference: ICD9CM:773.2
database_cross_reference: MSH:D004899
database_cross_reference: NCI:C101304
database_cross_reference: SNOMEDCT_US_2015_03_01:111468003
database_cross_reference: SNOMEDCT_US_2015_03_01:123307003
database_cross_reference: SNOMEDCT_US_2015_03_01:157130001
database_cross_reference: SNOMEDCT_US_2015_03_01:206429000
database_cross_reference: SNOMEDCT_US_2015_03_01:206430005
database_cross_reference: SNOMEDCT_US_2015_03_01:206431009
database_cross_reference: SNOMEDCT_US_2015_03_01:206436004
database_cross_reference: SNOMEDCT_US_2015_03_01:25121006
database_cross_reference: SNOMEDCT_US_2015_03_01:268878003
database_cross_reference: SNOMEDCT_US_2015_03_01:276577009
database_cross_reference: SNOMEDCT_US_2015_03_01:33130007
database_cross_reference: SNOMEDCT_US_2015_03_01:387705004
database_cross_reference: UMLS_CUI:C0014761
has_obo_namespace: disease_ontology
has_exact_synonym: erythroblastosis fetalis

Axiom
annotated target: (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)
database_cross_reference: SNOMEDCT_2005_07_31:206430005
annotated source: fetal erythroblastosis
annotated property: has_exact_synonym

Axiom
annotated target: EF - Erythroblastosis foetalis
database_cross_reference: SNOMEDCT_2005_07_31:387705004
annotated source: fetal erythroblastosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0441-2309
annotated target: erythroblastosis fetalis
annotated source: fetal erythroblastosis
annotated property: has_exact_synonym

poliovirus type II nonparalytic poliomyelitis
type: Class
definition: A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
id: DOID:10980
has_exact_synonym: acute nonparalytic poliomyelitis poliovirus type II
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
database_cross_reference: url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf
annotated source: poliovirus type II nonparalytic poliomyelitis
annotated property: definition

Alport syndrome
type: Class
subclass of: autosomal recessive disease
definition: A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
id: DOID:10983
has_exact_synonym: Hereditary Nephritis
database_cross_reference: MSH:D009394
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:104200
database_cross_reference: OMIM:203780
database_cross_reference: OMIM:301050
database_cross_reference: SNOMEDCT_US_2015_03_01:399340005
database_cross_reference: SNOMEDCT_US_2015_03_01:57333009
database_cross_reference: UMLS_CUI:C0027706
has_obo_namespace: disease_ontology

Axiom
annotated target: A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alport_syndrome
annotated source: Alport syndrome
annotated property: definition

Axiom
annotated target: Hereditary Nephritis
database_cross_reference: NCI2004_11_17:C34842
annotated source: Alport syndrome
annotated property: has_exact_synonym

discitis
type: Class
subclass of: DOID 1222
id: DOID:10986
database_cross_reference: ICD10CM:M46.4
database_cross_reference: MSH:D015299
database_cross_reference: SNOMEDCT_US_2015_03_01:2304001
database_cross_reference: UMLS_CUI:C0012624
has_exact_synonym: discitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:2304001
annotated target: discitis (disorder)
annotated source: discitis
annotated property: has_exact_synonym

conjunctival vascular disease
type: Class
subclass of: DOID 4251
has_exact_synonym: Conjunctival vascular abnormality NOS (disorder)
id: DOID:10989
database_cross_reference: ICD10CM:H11.41
database_cross_reference: ICD9CM:372.74
database_cross_reference: NCI:C35116
database_cross_reference: SNOMEDCT_US_2015_03_01:193900004
database_cross_reference: SNOMEDCT_US_2015_03_01:74100001
database_cross_reference: UMLS_CUI:C0042370
has_obo_namespace: disease_ontology
has_exact_synonym: vascular abnormalities of conjunctiva
has_exact_synonym: vascular abnormality of conjunctiva (disorder)

Axiom
database_cross_reference: ICD9CM_2006:372.74
annotated target: vascular abnormalities of conjunctiva
annotated source: conjunctival vascular disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:74100001
annotated target: vascular abnormality of conjunctiva (disorder)
annotated source: conjunctival vascular disease
annotated property: has_exact_synonym

Axiom
annotated target: Conjunctival vascular abnormality NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193900004
annotated source: conjunctival vascular disease
annotated property: has_exact_synonym

alpha thalassemia
type: Class
subclass of: thalassemia
has_exact_synonym: Alpha thalassaemia
definition: Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
id: DOID:1099
has_exact_synonym: Hemoglobin H disease
database_cross_reference: ICD10CM:D56.0
database_cross_reference: ICD9CM:282.43
database_cross_reference: MSH:D017085
database_cross_reference: NCI:C34368
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:141750
database_cross_reference: OMIM:141800
database_cross_reference: OMIM:301040
database_cross_reference: OMIM:604131
database_cross_reference: OMIM:613978
database_cross_reference: SNOMEDCT_US_2015_03_01:191186002
database_cross_reference: SNOMEDCT_US_2015_03_01:68913001
database_cross_reference: UMLS_CUI:C0002312
has_exact_synonym: alpha-Thalassemia
has_obo_namespace: disease_ontology

Axiom
annotated target: Hemoglobin H disease
database_cross_reference: NCI2004_11_17:C34368
annotated source: alpha thalassemia
annotated property: has_exact_synonym

Axiom
annotated target: Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
database_cross_reference: url:http://en.wikipedia.org/wiki/Alpha_Thalassemia
annotated source: alpha thalassemia
annotated property: definition

Axiom
annotated target: Alpha thalassaemia
database_cross_reference: SNOMEDCT_2005_07_31:191186002
annotated source: alpha thalassemia
annotated property: has_exact_synonym

basal ganglia cerebrovascular disease
type: Class
subclass of: DOID 6713
subclass of: DOID 679
id: DOID:10991
database_cross_reference: MSH:D020144
database_cross_reference: UMLS_CUI:C0751739
has_obo_namespace: disease_ontology

acute hemorrhagic leukoencephalitis
type: Class
subclass of: DOID 639
definition: A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
has_exact_synonym: AHL
id: DOID:10992
database_cross_reference: MSH:D004684
database_cross_reference: NCI:C84535
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:606752
database_cross_reference: SNOMEDCT_US_2015_03_01:72986009
database_cross_reference: UMLS_CUI:C0014077
has_exact_synonym: Weston-Hurst syndrome
has_exact_synonym: acute haemorrhagic leucoencephalitis of Weston Hurst
has_exact_synonym: acute hemorrhagic encephalomyelitis
has_exact_synonym: acute necrotizing hemorrhagic leukoencephalitis
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:72986009
annotated target: acute haemorrhagic leucoencephalitis of Weston Hurst
annotated source: acute hemorrhagic leukoencephalitis
annotated property: has_exact_synonym

Axiom
annotated target: AHL
database_cross_reference: OMIM:606752
annotated source: acute hemorrhagic leukoencephalitis
annotated property: has_exact_synonym

Axiom
annotated target: A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
database_cross_reference: url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1
annotated source: acute hemorrhagic leukoencephalitis
annotated property: definition

postinfectious encephalitis
type: Class
id: DOID:10993
has_exact_synonym: Post-infectious encephalitis (disorder)
has_exact_synonym: Post-infectious encephalitis NOS (disorder)
has_exact_synonym: Postinfective encephalitis
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Post-infectious encephalitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:192727001
annotated source: postinfectious encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: Post-infectious encephalitis NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:192729003
annotated source: postinfectious encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: Postinfective encephalitis
database_cross_reference: SNOMEDCT_2005_07_31:154989001
annotated source: postinfectious encephalitis
annotated property: has_exact_synonym

Axiom
annotated target: Postinfective encephalitis
database_cross_reference: SNOMEDCT_2005_07_31:267683005
annotated source: postinfectious encephalitis
annotated property: has_exact_synonym

immature cataract
type: Class
subclass of: DOID 9669
id: DOID:10997
database_cross_reference: ICD10CM:H25.09
has_exact_synonym: Immature cataract NOS (disorder)
has_exact_synonym: Incipient cataract (disorder)
has_exact_synonym: Incipient cataract NOS (disorder)
has_exact_synonym: Incipient senile cataract
database_cross_reference: SNOMEDCT_US_2015_03_01:193584004
database_cross_reference: SNOMEDCT_US_2015_03_01:52421005
database_cross_reference: UMLS_CUI:C0271163
has_exact_synonym: Water clefts
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:366.12
annotated target: Water clefts
annotated source: immature cataract
annotated property: has_exact_synonym

Axiom
annotated target: Incipient cataract NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193584004
annotated source: immature cataract
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:366.12
annotated target: Incipient senile cataract
annotated source: immature cataract
annotated property: has_exact_synonym

Axiom
annotated target: Immature cataract NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193585003
annotated source: immature cataract
annotated property: has_exact_synonym

Axiom
annotated target: Incipient cataract (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:52421005
annotated source: immature cataract
annotated property: has_exact_synonym

chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis
type: Class
id: DOID:10998
has_obo_namespace: disease_ontology
deprecated: true

lens disease
type: Class
subclass of: DOID 5614
id: DOID:110
database_cross_reference: ICD10CM:H25-H28
database_cross_reference: ICD10CM:H27.9
database_cross_reference: MSH:D007905
database_cross_reference: NCI:C26812
database_cross_reference: SNOMEDCT_US_2015_03_01:10810001
database_cross_reference: SNOMEDCT_US_2015_03_01:194158009
database_cross_reference: SNOMEDCT_US_2015_03_01:194613002
database_cross_reference: UMLS_CUI:C0023308
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of lens
has_exact_synonym: lens disorder

Axiom
database_cross_reference: CSP2005:1114-9053
annotated target: lens disorder
annotated source: lens disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194613002
annotated target: disorder of lens
annotated source: lens disease
annotated property: has_exact_synonym

ovarian disease
type: Class
subclass of: DOID 229
id: DOID:1100
database_cross_reference: MSH:D010049
database_cross_reference: NCI:C26841
has_exact_synonym: Ovarian disorder
database_cross_reference: SNOMEDCT_US_2015_03_01:5552004
database_cross_reference: UMLS_CUI:C0029928
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of ovary (disorder)
has_exact_synonym: ovary disorder

Axiom
database_cross_reference: CSP2005:2587-6126
annotated target: ovary disorder
annotated source: ovarian disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C26841
annotated target: Ovarian disorder
annotated source: ovarian disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:5552004
annotated target: disorder of ovary (disorder)
annotated source: ovarian disease
annotated property: has_exact_synonym

progressive iris atrophy
type: Class
id: DOID:11000
has_exact_synonym: Essential iris atrophy (disorder)
has_exact_synonym: Essential or progressive iris atrophy
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Essential or progressive iris atrophy
database_cross_reference: ICD9CM_2006:364.51
annotated source: progressive iris atrophy
annotated property: has_exact_synonym

Axiom
annotated target: Essential iris atrophy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:25913001
annotated source: progressive iris atrophy
annotated property: has_exact_synonym

Iris and ciliary body degeneration
type: Class
id: DOID:11001
has_obo_namespace: disease_ontology
deprecated: true

Iridoschisis
type: Class
id: DOID:11002
has_exact_synonym: Iridoschisis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Iridoschisis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:5743005
annotated source: Iridoschisis
annotated property: has_exact_synonym

pupillary margin miotic cyst
type: Class
id: DOID:11003
has_exact_synonym: Miotic cyst of pupillary margin (disorder)
has_exact_synonym: Miotic cysts of pupillary margin
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Miotic cyst of pupillary margin (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:22681004
annotated source: pupillary margin miotic cyst
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:364.55
annotated target: Miotic cysts of pupillary margin
annotated source: pupillary margin miotic cyst
annotated property: has_exact_synonym

Atrophy of sphincter of iris
type: Class
id: DOID:11005
has_exact_synonym: degeneration of pupillary margin
has_exact_synonym: degeneration of pupillary margin (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:25859000
annotated target: degeneration of pupillary margin (disorder)
annotated source: Atrophy of sphincter of iris
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:364.54
annotated target: degeneration of pupillary margin
annotated source: Atrophy of sphincter of iris
annotated property: has_exact_synonym

anorectal stricture
type: Class
subclass of: DOID 3128
has_exact_synonym: Anorectal stricture (disorder)
id: DOID:11014
database_cross_reference: ICD10CM:K62.4
database_cross_reference: ICD9CM:569.2
database_cross_reference: MSH:C537771
database_cross_reference: SNOMEDCT_US_2015_03_01:155803007
database_cross_reference: SNOMEDCT_US_2015_03_01:197216007
database_cross_reference: SNOMEDCT_US_2015_03_01:197218008
database_cross_reference: SNOMEDCT_US_2015_03_01:68627009
has_exact_synonym: Stenosis of rectum and anus
has_exact_synonym: Stenosis of rectum and anus (disorder)
has_exact_synonym: Stenosis of rectum and anus NOS (disorder)
database_cross_reference: UMLS_CUI:C0156183
has_obo_namespace: disease_ontology

Axiom
annotated target: Anorectal stricture (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:68627009
annotated source: anorectal stricture
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:155803007
annotated target: Stenosis of rectum and anus
annotated source: anorectal stricture
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:197218008
annotated target: Stenosis of rectum and anus NOS (disorder)
annotated source: anorectal stricture
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:197216007
annotated target: Stenosis of rectum and anus (disorder)
annotated source: anorectal stricture
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:569.2
annotated target: Stenosis of rectum and anus
annotated source: anorectal stricture
annotated property: has_exact_synonym

postsurgical testicular hypofunction
type: Class
id: DOID:11018
has_exact_synonym: Post-surgical testicular hypofunction (disorder)
has_exact_synonym: Postablative testicular hypofunction
has_exact_synonym: Postablative testicular hypofunction (disorder)
has_exact_synonym: Postablative testicular hypofunction NOS (disorder)
has_exact_synonym: Postsurgical testicular hypofunction (disorder) [Ambiguous]
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Postablative testicular hypofunction (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:190552005
annotated source: postsurgical testicular hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Postsurgical testicular hypofunction (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:60237007
annotated source: postsurgical testicular hypofunction
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:257.1
annotated target: Postablative testicular hypofunction
annotated source: postsurgical testicular hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Postablative testicular hypofunction NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:190556008
annotated source: postsurgical testicular hypofunction
annotated property: has_exact_synonym

Axiom
annotated target: Post-surgical testicular hypofunction (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:190553000
annotated source: postsurgical testicular hypofunction
annotated property: has_exact_synonym

testicular dysfunction
type: Class
id: DOID:11019
has_obo_namespace: disease_ontology
deprecated: true

chronic glomerulonephritis with lesion of proliferative glomerulonephritis
type: Class
id: DOID:11020
has_exact_synonym: chronic glomerulonephritis with lesion of proliferative glomerulonephritis
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:582.0
annotated target: chronic glomerulonephritis with lesion of proliferative glomerulonephritis
annotated source: chronic glomerulonephritis with lesion of proliferative glomerulonephritis
annotated property: has_exact_synonym

chronic glomerulonephritis with lesion of membranous glomerulonephritis
type: Class
id: DOID:11027
has_exact_synonym: chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C34475
annotated target: chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis
annotated source: chronic glomerulonephritis with lesion of membranous glomerulonephritis
annotated property: has_exact_synonym

pseudopterygium
type: Class
subclass of: corneal disease
subclass of: conjunctival degeneration
id: DOID:11028
database_cross_reference: ICD9CM:372.52
database_cross_reference: SNOMEDCT_US_2015_03_01:66139007
database_cross_reference: UMLS_CUI:C0155161
has_obo_namespace: disease_ontology

pinguecula
type: Class
subclass of: conjunctival degeneration
id: DOID:11029
database_cross_reference: ICD10CM:H11.15
database_cross_reference: ICD9CM:372.51
database_cross_reference: MSH:D059407
has_exact_synonym: Pinguecula (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:155169006
database_cross_reference: SNOMEDCT_US_2015_03_01:267735001
database_cross_reference: SNOMEDCT_US_2015_03_01:87614000
database_cross_reference: UMLS_CUI:C0152255
has_obo_namespace: disease_ontology

Axiom
annotated target: Pinguecula (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:87614000
annotated source: pinguecula
annotated property: has_exact_synonym

malignant esophageal neoplasm by topographic region
type: Class
id: DOID:1103
has_obo_namespace: disease_ontology
deprecated: true

corneal edema
type: Class
subclass of: corneal disease
has_exact_synonym: CORNEAL EDEMA
has_exact_synonym: Corneal edema (disorder)
has_exact_synonym: Corneal edema NOS (disorder)
has_exact_synonym: Corneal edema, unspecified
has_exact_synonym: Corneal oedema
has_exact_synonym: Corneal oedema [Ambiguous]
id: DOID:11030
database_cross_reference: ICD10CM:H18.20
database_cross_reference: ICD9CM:371.2
database_cross_reference: ICD9CM:371.20
database_cross_reference: MSH:D015715
database_cross_reference: NCI:C50508
database_cross_reference: SNOMEDCT_US_2015_03_01:155158008
database_cross_reference: SNOMEDCT_US_2015_03_01:193811006
database_cross_reference: SNOMEDCT_US_2015_03_01:193812004
database_cross_reference: SNOMEDCT_US_2015_03_01:193817005
database_cross_reference: SNOMEDCT_US_2015_03_01:27194006
database_cross_reference: UMLS_CUI:C0010037
has_exact_synonym: Unspecified corneal edema (disorder)
has_exact_synonym: cornea edema
has_obo_namespace: disease_ontology

Axiom
annotated target: Corneal edema, unspecified
database_cross_reference: ICD9CM_2006:371.20
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:1114-8704
annotated target: cornea edema
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
annotated target: Corneal oedema
database_cross_reference: SNOMEDCT_2005_07_31:155158008
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
annotated target: Corneal edema (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:27194006
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
annotated target: CORNEAL EDEMA
database_cross_reference: MTH:NOCODE
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193812004
annotated target: Unspecified corneal edema (disorder)
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
annotated target: Corneal oedema [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:193811006
annotated source: corneal edema
annotated property: has_exact_synonym

Axiom
annotated target: Corneal edema NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193817005
annotated source: corneal edema
annotated property: has_exact_synonym

bullous keratopathy
type: Class
subclass of: corneal edema
has_exact_synonym: Bullous Keratopathy
has_exact_synonym: Bullous keratopathy (disorder)
id: DOID:11031
database_cross_reference: ICD10CM:H18.1
database_cross_reference: ICD9CM:371.23
database_cross_reference: NCI:C26970
database_cross_reference: SNOMEDCT_US_2015_03_01:193815002
database_cross_reference: SNOMEDCT_US_2015_03_01:57207003
database_cross_reference: UMLS_CUI:C0155111
has_obo_namespace: disease_ontology

Axiom
annotated target: Bullous Keratopathy
database_cross_reference: NCI2004_11_17:C26970
annotated source: bullous keratopathy
annotated property: has_exact_synonym

Axiom
annotated target: Bullous keratopathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:57207003
annotated source: bullous keratopathy
annotated property: has_exact_synonym

secondary corneal edema
type: Class
subclass of: corneal edema
id: DOID:11032
database_cross_reference: ICD10CM:H18.23
database_cross_reference: ICD9CM:371.22
database_cross_reference: SNOMEDCT_US_2015_03_01:193814003
database_cross_reference: SNOMEDCT_US_2015_03_01:27536004
database_cross_reference: UMLS_CUI:C0155110
has_obo_namespace: disease_ontology
has_exact_synonym: secondary corneal edema (disorder)
has_exact_synonym: secondary corneal edema [dup] (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193814003
annotated target: secondary corneal edema [dup] (disorder)
annotated source: secondary corneal edema
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:27536004
annotated target: secondary corneal edema (disorder)
annotated source: secondary corneal edema
annotated property: has_exact_synonym

idiopathic corneal edema
type: Class
subclass of: corneal edema
id: DOID:11033
database_cross_reference: ICD10CM:H18.22
database_cross_reference: ICD9CM:371.21
has_exact_synonym: Idiopathic corneal edema (disorder)
has_exact_synonym: Idiopathic corneal edema [dup] (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:1794009
database_cross_reference: SNOMEDCT_US_2015_03_01:193813009
database_cross_reference: UMLS_CUI:C0155109
has_obo_namespace: disease_ontology

Axiom
annotated target: Idiopathic corneal edema [dup] (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193813009
annotated source: idiopathic corneal edema
annotated property: has_exact_synonym

Axiom
annotated target: Idiopathic corneal edema (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:1794009
annotated source: idiopathic corneal edema
annotated property: has_exact_synonym

contact lens corneal edema
type: Class
subclass of: corneal edema
has_exact_synonym: Corneal edema due to wearing of contact lenses
id: DOID:11034
database_cross_reference: ICD9CM:371.24
database_cross_reference: SNOMEDCT_US_2015_03_01:193816001
database_cross_reference: SNOMEDCT_US_2015_03_01:49362009
database_cross_reference: UMLS_CUI:C0474442
has_obo_namespace: disease_ontology

Axiom
annotated target: Corneal edema due to wearing of contact lenses
database_cross_reference: ICD9CM_2006:371.24
annotated source: contact lens corneal edema
annotated property: has_exact_synonym

chronic rapidly progressive glomerulonephritis
type: Class
subclass of: DOID 2921
id: DOID:11036
database_cross_reference: ICD9CM:582.4
database_cross_reference: SNOMEDCT_US_2015_03_01:197614002
database_cross_reference: UMLS_CUI:C0341694
has_exact_synonym: chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis
has_exact_synonym: chronic rapidly progressive glomerulonephritis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:197614002
annotated target: chronic rapidly progressive glomerulonephritis (disorder)
annotated source: chronic rapidly progressive glomerulonephritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:582.4
annotated target: chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis
annotated source: chronic rapidly progressive glomerulonephritis
annotated property: has_exact_synonym

dissociative amnesia
type: Class
subclass of: dissociative disorder
definition: A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
id: DOID:11037
database_cross_reference: ICD10CM:F44.0
database_cross_reference: ICD9CM:300.12
database_cross_reference: MSH:D000647
database_cross_reference: NCI:C94328
database_cross_reference: SNOMEDCT_US_2015_03_01:191716000
database_cross_reference: SNOMEDCT_US_2015_03_01:192420000
database_cross_reference: SNOMEDCT_US_2015_03_01:84209002
database_cross_reference: UMLS_CUI:C0236795
has_obo_namespace: disease_ontology
has_exact_synonym: psychogenic amnesia

Axiom
database_cross_reference: CSP2005:2483-7018
annotated target: psychogenic amnesia
annotated source: dissociative amnesia
annotated property: has_exact_synonym

Axiom
annotated target: A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
database_cross_reference: url:http://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html
annotated source: dissociative amnesia
annotated property: definition

depersonalization disorder
type: Class
subclass of: dissociative disorder
definition: A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
id: DOID:11038
database_cross_reference: ICD9CM:300.6
database_cross_reference: MSH:D003861
database_cross_reference: NCI:C94331
has_exact_synonym: Neurotic derealization
database_cross_reference: SNOMEDCT_US_2015_03_01:70764005
database_cross_reference: UMLS_CUI:C0683416
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:300.6
annotated target: Neurotic derealization
annotated source: depersonalization disorder
annotated property: has_exact_synonym

Axiom
annotated target: A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
database_cross_reference: url:http://en.wikipedia.org/wiki/Depersonalization_disorder
annotated source: depersonalization disorder
annotated property: definition

Felty's syndrome
type: Class
subclass of: DOID 225
definition: A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
id: DOID:11042
has_exact_synonym: Felty syndrome
database_cross_reference: ICD10CM:M05.0
database_cross_reference: ICD10CM:M05.00
database_cross_reference: ICD9CM:714.1
database_cross_reference: MSH:D005258
database_cross_reference: NCI:C84712
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:134750
has_exact_synonym: Rheumatoid arthritis with splenoadenomegaly and leukopenia
database_cross_reference: SNOMEDCT_US_2015_03_01:156482001
database_cross_reference: SNOMEDCT_US_2015_03_01:57160007
database_cross_reference: UMLS_CUI:C0015773
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:714.1
annotated target: Rheumatoid arthritis with splenoadenomegaly and leukopenia
annotated source: Felty's syndrome
annotated property: has_exact_synonym

Axiom
annotated target: A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
database_cross_reference: url:http://emedicine.medscape.com/article/329734-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Felty%27s_syndrome
database_cross_reference: url:http://www.medicinenet.com/feltys_syndrome/article.htm
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm
annotated source: Felty's syndrome
annotated property: definition

gastroschisis
type: Class
subclass of: physical disorder
id: DOID:11044
has_exact_synonym: Gastroschisis (disorder)
database_cross_reference: ICD10CM:Q79.3
database_cross_reference: ICD9CM:756.73
database_cross_reference: MSH:D020139
database_cross_reference: NCI:C84725
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:230750
database_cross_reference: SNOMEDCT_US_2015_03_01:72951007
database_cross_reference: UMLS_CUI:C0265706
has_obo_namespace: disease_ontology

Axiom
annotated target: Gastroschisis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:72951007
annotated source: gastroschisis
annotated property: has_exact_synonym

meconium aspiration syndrome
type: Class
subclass of: DOID 850
id: DOID:11049
database_cross_reference: ICD10CM:P24.0
database_cross_reference: ICD10CM:P24.00
database_cross_reference: ICD10CM:P24.01
database_cross_reference: MSH:D008471
database_cross_reference: NCI:C87093
has_exact_synonym: Neonatal aspiration of meconium (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:14608006
database_cross_reference: SNOMEDCT_US_2015_03_01:157110000
database_cross_reference: SNOMEDCT_US_2015_03_01:206292002
database_cross_reference: SNOMEDCT_US_2015_03_01:278927005
database_cross_reference: SNOMEDCT_US_2015_03_01:85779008
database_cross_reference: UMLS_CUI:C0025048
has_obo_namespace: disease_ontology
has_exact_synonym: meconium aspiration

Axiom
annotated target: Neonatal aspiration of meconium (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:278927005
annotated source: meconium aspiration syndrome
annotated property: has_exact_synonym

esophageal metastasis
type: Class
id: DOID:1105
has_obo_namespace: disease_ontology
has_exact_synonym: metastatic tumor to the esophagus
deprecated: true

Axiom
database_cross_reference: NCI2004_11_17:C7479
annotated target: metastatic tumor to the esophagus
annotated source: esophageal metastasis
annotated property: has_exact_synonym

urinary bladder cancer
type: Class
subclass of: DOID 3996
definition: An urinary system cancer that results_in malignant growth located_in the urinary bladder.
id: DOID:11054
has_alternative_id: DOID:5428
database_cross_reference: ICD10CM:C67
database_cross_reference: ICD10CM:C67.9
database_cross_reference: ICD9CM:188
database_cross_reference: ICD9CM:188.9
database_cross_reference: KEGG:05219
database_cross_reference: MSH:D001749
database_cross_reference: NCI:C2901
database_cross_reference: NCI:C9334
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:109800
database_cross_reference: SNOMEDCT_US_2015_03_01:126885006
database_cross_reference: SNOMEDCT_US_2015_03_01:154540000
database_cross_reference: SNOMEDCT_US_2015_03_01:188248005
database_cross_reference: SNOMEDCT_US_2015_03_01:269607003
database_cross_reference: SNOMEDCT_US_2015_03_01:363455001
database_cross_reference: SNOMEDCT_US_2015_03_01:399326009
database_cross_reference: SNOMEDCT_US_2015_03_01:93689003
database_cross_reference: UMLS_CUI:C0005684
database_cross_reference: UMLS_CUI:C0005695
has_exact_synonym: bladder cancer
has_obo_namespace: disease_ontology
has_exact_synonym: tumor of the bladder
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: NCI2004_11_17:C2901
annotated target: tumor of the bladder
annotated source: urinary bladder cancer
annotated property: has_exact_synonym

Axiom
annotated target: An urinary system cancer that results_in malignant growth located_in the urinary bladder.
database_cross_reference: url:http://en.wikipedia.org/wiki/Bladder_cancer
annotated source: urinary bladder cancer
annotated property: definition

pasteurellosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
id: DOID:11055
database_cross_reference: ICD10CM:A28.0
database_cross_reference: ICD9CM:027.2
database_cross_reference: MSH:D010326
has_exact_synonym: Pasteurella infection
has_exact_synonym: Pasteurella infectious disease
database_cross_reference: SNOMEDCT_US_2015_03_01:186328008
database_cross_reference: SNOMEDCT_US_2015_03_01:266086006
database_cross_reference: SNOMEDCT_US_2015_03_01:276199008
database_cross_reference: SNOMEDCT_US_2015_03_01:83172007
database_cross_reference: UMLS_CUI:C0030636
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
database_cross_reference: url:http://emedicine.medscape.com/article/224920-clinical#a0217
database_cross_reference: url:http://en.wikipedia.org/wiki/Pasteurellosis
annotated source: pasteurellosis
annotated property: definition

Axiom
annotated target: Pasteurella infection
database_cross_reference: SNOMEDCT_2005_07_31:276199008
annotated source: pasteurellosis
annotated property: has_exact_synonym

Pasteurella hemorrhagic septicemia
type: Class
id: DOID:11056
has_obo_namespace: disease_ontology
has_exact_synonym: hemorrhagic septicemia
deprecated: true
in_subset: GOLD
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

esophagus lymphoma
type: Class
subclass of: lymphoma
subclass of: DOID 5041
id: DOID:1106
has_exact_synonym: Lymphoma of esophagus
database_cross_reference: NCI:C5687
database_cross_reference: UMLS_CUI:C1333459
has_obo_namespace: disease_ontology

Axiom
annotated target: Lymphoma of esophagus
database_cross_reference: NCI2004_11_17:C5687
annotated source: esophagus lymphoma
annotated property: has_exact_synonym

placenta praevia
type: Class
subclass of: DOID 780
definition: A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
id: DOID:11060
database_cross_reference: ICD10CM:O44
database_cross_reference: MSH:D010923
database_cross_reference: NCI:C26858
database_cross_reference: SNOMEDCT_US_2015_03_01:157059004
database_cross_reference: SNOMEDCT_US_2015_03_01:198930005
database_cross_reference: SNOMEDCT_US_2015_03_01:36813001
database_cross_reference: UMLS_CUI:C0032046
has_obo_namespace: disease_ontology

Axiom
annotated target: A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
database_cross_reference: url:http://en.wikipedia.org/wiki/Placenta_previa
annotated source: placenta praevia
annotated property: definition

esophageal carcinoma
type: Class
subclass of: DOID 305
subclass of: DOID 5041
definition: A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
id: DOID:1107
database_cross_reference: EFO:0002916
database_cross_reference: NCI:C3513
database_cross_reference: SNOMEDCT_US_2015_03_01:154441003
database_cross_reference: SNOMEDCT_US_2015_03_01:255079005
database_cross_reference: SNOMEDCT_US_2015_03_01:372138000
database_cross_reference: SNOMEDCT_US_2015_03_01:93785002
database_cross_reference: UMLS_CUI:C0152018
has_exact_synonym: cancer of esophagus
has_exact_synonym: cancer of oesophagus
has_exact_synonym: carcinoma OF ESOPHAGUS
has_exact_synonym: carcinoma of esophagus (disorder)
has_exact_synonym: carcinoma of oesophagus
has_obo_namespace: disease_ontology
in_subset: DO cancer slim

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:255079005
annotated target: carcinoma of esophagus (disorder)
annotated source: esophageal carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:372138000
annotated target: carcinoma of esophagus (disorder)
annotated source: esophageal carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154441003
annotated target: carcinoma of oesophagus
annotated source: esophageal carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93785002
annotated target: cancer of oesophagus
annotated source: esophageal carcinoma
annotated property: has_exact_synonym

Axiom
annotated target: A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: url:http://en.wikipedia.org/wiki/Esophageal_cancer
annotated source: esophageal carcinoma
annotated property: definition

Axiom
database_cross_reference: MTH:NOCODE
annotated target: carcinoma OF ESOPHAGUS
annotated source: esophageal carcinoma
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C3513
annotated target: cancer of esophagus
annotated source: esophageal carcinoma
annotated property: has_exact_synonym

cyst of thyroid
type: Class
has_exact_synonym: Cyst of the Thyroid gland
has_exact_synonym: Cyst of thyroid
has_exact_synonym: Cyst of thyroid (disorder)
id: DOID:11074
has_exact_synonym: Thyroid cyst
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Cyst of the Thyroid gland
database_cross_reference: NCI2004_11_17:C3667
annotated source: cyst of thyroid
annotated property: has_exact_synonym

Axiom
annotated target: Cyst of thyroid (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:72325004
annotated source: cyst of thyroid
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154669004
annotated target: Thyroid cyst
annotated source: cyst of thyroid
annotated property: has_exact_synonym

Axiom
annotated target: Cyst of thyroid
database_cross_reference: ICD9CM_2006:246.2
annotated source: cyst of thyroid
annotated property: has_exact_synonym

Brucella suis brucellosis
type: Class
subclass of: brucellosis
definition: A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue.
id: DOID:11076
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue.
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm
annotated source: Brucella suis brucellosis
annotated property: definition

brucellosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
has_related_synonym: Bang's disease
has_alternative_id: DOID:0050060
id: DOID:11077
has_related_synonym: Gibraltar fever
database_cross_reference: ICD10CM:A23
database_cross_reference: ICD10CM:A23.9
database_cross_reference: ICD9CM:023
database_cross_reference: ICD9CM:023.9
database_cross_reference: MSH:D002006
has_related_synonym: Malta fever
has_exact_synonym: Maltese fever
has_related_synonym: Mediterranean fever
database_cross_reference: NCI:C84602
database_cross_reference: SNOMEDCT_US_2015_03_01:111804008
database_cross_reference: SNOMEDCT_US_2015_03_01:154296006
database_cross_reference: SNOMEDCT_US_2015_03_01:186310006
database_cross_reference: SNOMEDCT_US_2015_03_01:187304000
database_cross_reference: SNOMEDCT_US_2015_03_01:75702008
database_cross_reference: UMLS_CUI:C0006309
has_obo_namespace: disease_ontology
has_exact_synonym: undulant fever
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
database_cross_reference: url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm
annotated source: brucellosis
annotated property: definition

leech infestation
type: Class
subclass of: DOID 4110
definition: A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
id: DOID:11079
has_exact_synonym: Hirudiniasis
database_cross_reference: ICD10CM:B88.3
database_cross_reference: ICD9CM:134.2
has_exact_synonym: Leech infestation (disorder)
has_exact_synonym: Leeches
database_cross_reference: SNOMEDCT_US_2015_03_01:154423006
database_cross_reference: SNOMEDCT_US_2015_03_01:266225001
database_cross_reference: SNOMEDCT_US_2015_03_01:64351000
database_cross_reference: UMLS_CUI:C0019575
has_obo_namespace: disease_ontology

Axiom
annotated target: A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
database_cross_reference: url:http://en.wikipedia.org/wiki/Leech
database_cross_reference: url:http://www.plosone.org/article/info:doi/10.1371/journal.pone.0010057
annotated source: leech infestation
annotated property: definition

Axiom
annotated target: Leeches
database_cross_reference: MTHICD9_2006:134.2
annotated source: leech infestation
annotated property: has_exact_synonym

Axiom
annotated target: Leech infestation (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:64351000
annotated source: leech infestation
annotated property: has_exact_synonym

Axiom
annotated target: Hirudiniasis
database_cross_reference: ICD9CM_2006:134.2
annotated source: leech infestation
annotated property: has_exact_synonym

esophagus melanoma
type: Class
subclass of: DOID 1909
subclass of: DOID 5041
id: DOID:1108
database_cross_reference: NCI:C5707
database_cross_reference: UMLS_CUI:C1333460
has_obo_namespace: disease_ontology
has_exact_synonym: melanoma of esophagus

Axiom
database_cross_reference: NCI2004_11_17:C5707
annotated target: melanoma of esophagus
annotated source: esophagus melanoma
annotated property: has_exact_synonym

myiasis
type: Class
subclass of: DOID 4110
definition: A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
id: DOID:11080
database_cross_reference: ICD10CM:B87
database_cross_reference: ICD10CM:B87.9
database_cross_reference: ICD9CM:134.0
has_exact_synonym: Infestation by fly larvae (disorder)
has_exact_synonym: Infestation by maggots
database_cross_reference: MSH:D009198
has_exact_synonym: Maggot infestation
has_exact_synonym: Myiasis, unspecified
has_exact_synonym: Myiasis, unspecified (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:154423006
database_cross_reference: SNOMEDCT_US_2015_03_01:187224004
database_cross_reference: SNOMEDCT_US_2015_03_01:187547004
database_cross_reference: SNOMEDCT_US_2015_03_01:266225001
database_cross_reference: SNOMEDCT_US_2015_03_01:60412004
database_cross_reference: UMLS_CUI:C0027030
has_obo_namespace: disease_ontology

Axiom
annotated target: Infestation by maggots
database_cross_reference: MTHICD9_2006:134.0
annotated source: myiasis
annotated property: has_exact_synonym

Axiom
annotated target: Myiasis, unspecified (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187547004
annotated source: myiasis
annotated property: has_exact_synonym

Axiom
annotated target: Myiasis, unspecified
database_cross_reference: SNOMEDCT_2005_07_31:187224004
annotated source: myiasis
annotated property: has_exact_synonym

Axiom
annotated target: A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
database_cross_reference: url:http://en.wikipedia.org/wiki/Myiasis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm
annotated source: myiasis
annotated property: definition

Axiom
annotated target: Infestation by fly larvae (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:60412004
annotated source: myiasis
annotated property: has_exact_synonym

Axiom
annotated target: Maggot infestation
database_cross_reference: SNOMEDCT_2005_07_31:266225001
annotated source: myiasis
annotated property: has_exact_synonym

chorioretinal scar
type: Class
subclass of: DOID 5679
id: DOID:11086
database_cross_reference: ICD10CM:H31.0
database_cross_reference: ICD10CM:H31.00
database_cross_reference: ICD9CM:363.3
database_cross_reference: ICD9CM:363.30
database_cross_reference: SNOMEDCT_US_2015_03_01:193455005
database_cross_reference: SNOMEDCT_US_2015_03_01:193460009
database_cross_reference: SNOMEDCT_US_2015_03_01:53854005
database_cross_reference: UMLS_CUI:C0008512
has_obo_namespace: disease_ontology

asphyxia neonatorum
type: Class
subclass of: DOID 1579
has_exact_synonym: Asphyxia - birth
has_exact_synonym: Asphyxia NOS in liveborn infant
has_exact_synonym: Asphyxia, in liveborn infant (disorder)
has_exact_synonym: Birth asphyxia (disorder)
id: DOID:11088
database_cross_reference: ICD10CM:P84
database_cross_reference: ICD9CM:768.9
has_exact_synonym: Liveborn with birth asphyxia NOS
has_exact_synonym: Liveborn with birth asphyxia NOS (disorder)
database_cross_reference: MSH:D001238
database_cross_reference: SNOMEDCT_US_2015_03_01:157098009
database_cross_reference: SNOMEDCT_US_2015_03_01:206278008
database_cross_reference: SNOMEDCT_US_2015_03_01:268831004
database_cross_reference: SNOMEDCT_US_2015_03_01:268873007
database_cross_reference: SNOMEDCT_US_2015_03_01:28314004
database_cross_reference: SNOMEDCT_US_2015_03_01:413654009
database_cross_reference: UMLS_CUI:C0004045
has_exact_synonym: Unspecified severity of birth asphyxia in liveborn infant
has_obo_namespace: disease_ontology
has_exact_synonym: postnatal asphyxia

Axiom
annotated target: Asphyxia - birth
database_cross_reference: SNOMEDCT_2005_07_31:268873007
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
annotated target: Birth asphyxia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:413654009
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
annotated target: Liveborn with birth asphyxia NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:268831004
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
annotated target: Asphyxia, in liveborn infant (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:28314004
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:768.9
annotated target: Unspecified severity of birth asphyxia in liveborn infant
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
annotated target: Asphyxia NOS in liveborn infant
database_cross_reference: MTHICD9_2006:768.9
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
annotated target: Asphyxia - birth
database_cross_reference: SNOMEDCT_2005_07_31:157098009
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
annotated target: Liveborn with birth asphyxia NOS
database_cross_reference: SNOMEDCT_2005_07_31:206278008
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0726-3340
annotated target: postnatal asphyxia
annotated source: asphyxia neonatorum
annotated property: has_exact_synonym

extracutaneous melanoma
type: Class
id: DOID:1109
has_obo_namespace: disease_ontology
deprecated: true

perinatal respiratory disorder
type: Class
id: DOID:11091
has_exact_synonym: Perinatal respiratory problems NOS
has_exact_synonym: Perinatal respiratory problems NOS (disorder)
has_exact_synonym: Unspecified respiratory condition of fetus and newborn
has_obo_namespace: disease_ontology
has_exact_synonym: respiratory condition of fetus OR newborn (disorder)
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:17849001
annotated target: respiratory condition of fetus OR newborn (disorder)
annotated source: perinatal respiratory disorder
annotated property: has_exact_synonym

Axiom
annotated target: Perinatal respiratory problems NOS
database_cross_reference: SNOMEDCT_2005_07_31:157108002
annotated source: perinatal respiratory disorder
annotated property: has_exact_synonym

Axiom
annotated target: Perinatal respiratory problems NOS
database_cross_reference: SNOMEDCT_2005_07_31:157115005
annotated source: perinatal respiratory disorder
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:770.9
annotated target: Unspecified respiratory condition of fetus and newborn
annotated source: perinatal respiratory disorder
annotated property: has_exact_synonym

Axiom
annotated target: Perinatal respiratory problems NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:206327004
annotated source: perinatal respiratory disorder
annotated property: has_exact_synonym

Salmonella gastroenteritis
type: Class
definition: A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness.
id: DOID:11092
has_exact_synonym: Enteric paratyphosis
has_exact_synonym: Salmonella food poisoning
has_exact_synonym: Salmonella food poisoning (disorder)
has_exact_synonym: Salmonella gastroenteritis
has_exact_synonym: Salmonella gastroenteritis (disorder)
has_exact_synonym: Salmonella gastroenteritis [Ambiguous]
has_exact_synonym: Salmonellosis
has_exact_synonym: Salmonellosis (& [gastroenteritis] or [food poisoning])
has_obo_namespace: disease_ontology
deprecated: true
in_subset: GOLD
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
database_cross_reference: MTHICD9_2006:003.0
annotated target: Salmonellosis
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:302229004
annotated target: Salmonella food poisoning (disorder)
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154271008
annotated target: Salmonella gastroenteritis
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:266072007
annotated target: Salmonella gastroenteritis [Ambiguous]
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:003.0
annotated target: Salmonella gastroenteritis
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
annotated target: A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/12631900
annotated source: Salmonella gastroenteritis
annotated property: definition

Axiom
annotated target: Enteric paratyphosis
database_cross_reference: SNOMEDCT_2005_07_31:170879007
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:42338000
annotated target: Salmonella gastroenteritis (disorder)
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186094005
annotated target: Salmonellosis (& [gastroenteritis] or [food poisoning])
annotated source: Salmonella gastroenteritis
annotated property: has_exact_synonym

bacterial gastroenteritis
type: Class
definition: A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting.
has_exact_synonym: Bacterial gastroenteritis (disorder)
has_alternative_id: DOID:0050128
id: DOID:11093
has_exact_synonym: Gastroenteritis - bact.
has_exact_synonym: bacterial diarrhea
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Gastroenteritis - bact.
database_cross_reference: SNOMEDCT_2005_07_31:266173000
annotated source: bacterial gastroenteritis
annotated property: has_exact_synonym

Axiom
annotated target: A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000254.htm
annotated source: bacterial gastroenteritis
annotated property: definition

Axiom
annotated target: Bacterial gastroenteritis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:274080003
annotated source: bacterial gastroenteritis
annotated property: has_exact_synonym

Axiom
annotated target: Gastroenteritis - bact.
database_cross_reference: SNOMEDCT_2005_07_31:154268000
annotated source: bacterial gastroenteritis
annotated property: has_exact_synonym

renal syphilis
type: Class
id: DOID:11096
has_exact_synonym: Syphilis of kidney
has_exact_synonym: Syphilis of kidney (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: ICD9CM_2006:095.4
annotated target: Syphilis of kidney
annotated source: renal syphilis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:59530001
annotated target: Syphilis of kidney (disorder)
annotated source: renal syphilis
annotated property: has_exact_synonym

pulmonary syphilis
type: Class
definition: A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever.
id: DOID:11097
has_exact_synonym: Syphilis of lung (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
annotated target: A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever.
database_cross_reference: url:http://sti.bmj.com/cgi/reprint/4/4/290.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf
annotated source: pulmonary syphilis
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:8555001
annotated target: Syphilis of lung (disorder)
annotated source: pulmonary syphilis
annotated property: has_exact_synonym

primary Rickettsiaceae infectious disease
type: Class
id: DOID:11099
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

gastrointestinal melanoma
type: Class
id: DOID:1110
has_obo_namespace: disease_ontology
deprecated: true

Q fever
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
id: DOID:11100
database_cross_reference: ICD10CM:A78
database_cross_reference: ICD9CM:083.0
has_exact_synonym: Infection due to Coxiella burnetii (disorder)
database_cross_reference: MSH:D011778
database_cross_reference: NCI:C34970
database_cross_reference: SNOMEDCT_US_2015_03_01:154375001
database_cross_reference: SNOMEDCT_US_2015_03_01:186788009
database_cross_reference: SNOMEDCT_US_2015_03_01:260588007
database_cross_reference: SNOMEDCT_US_2015_03_01:266205000
database_cross_reference: SNOMEDCT_US_2015_03_01:86012006
database_cross_reference: UMLS_CUI:C0034362
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
database_cross_reference: url:http://en.wikipedia.org/wiki/Q_fever
database_cross_reference: url:http://www.cdc.gov/qfever/symptoms/index.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/15021054
annotated source: Q fever
annotated property: definition

Axiom
annotated target: Infection due to Coxiella burnetii (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:260588007
annotated source: Q fever
annotated property: has_exact_synonym

trench fever
type: Class
subclass of: bartonellosis
definition: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back.
id: DOID:11101
has_exact_synonym: His-Werner disease
database_cross_reference: ICD10CM:A79.0
database_cross_reference: ICD9CM:083.1
database_cross_reference: MSH:D014205
has_exact_synonym: Quintan fever
database_cross_reference: SNOMEDCT_US_2015_03_01:82214002
has_exact_synonym: Trench fever
has_exact_synonym: Trench fever (disorder)
database_cross_reference: UMLS_CUI:C0040830
has_exact_synonym: Wolhynian fever
has_obo_namespace: disease_ontology
has_exact_synonym: shin bone fever
has_exact_synonym: tibialgic fever
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: ICD9CM_2006:083.1
annotated target: Trench fever
annotated source: trench fever
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:083.1
annotated target: Wolhynian fever
annotated source: trench fever
annotated property: has_exact_synonym

Axiom
annotated target: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back.
database_cross_reference: url:http://emedicine.medscape.com/article/230294-clinical
database_cross_reference: url:http://en.wikipedia.org/wiki/Trench_fever
annotated source: trench fever
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:82214002
annotated target: Trench fever (disorder)
annotated source: trench fever
annotated property: has_exact_synonym

bartonellosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
has_exact_synonym: Bartonella infectious disease
id: DOID:11102
database_cross_reference: ICD10CM:A44
database_cross_reference: ICD10CM:A44.9
database_cross_reference: ICD9CM:088.0
database_cross_reference: MSH:D001474
database_cross_reference: NCI:C84586
has_exact_synonym: Rochalimaea infection (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:17116008
database_cross_reference: SNOMEDCT_US_2015_03_01:186824002
database_cross_reference: SNOMEDCT_US_2015_03_01:187340003
database_cross_reference: SNOMEDCT_US_2015_03_01:240454008
database_cross_reference: SNOMEDCT_US_2015_03_01:240623002
database_cross_reference: SNOMEDCT_US_2015_03_01:266123003
database_cross_reference: UMLS_CUI:C0004771
has_exact_synonym: bartonelliasis
has_obo_namespace: disease_ontology
in_subset: GOLD
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: CSP2005:2623-6984
annotated target: bartonelliasis
annotated source: bartonellosis
annotated property: has_exact_synonym

Axiom
annotated target: Rochalimaea infection (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:240623002
annotated source: bartonellosis
annotated property: has_exact_synonym

Axiom
annotated target: A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
database_cross_reference: url:http://en.wikipedia/org/wiki/Bartonellosis
annotated source: bartonellosis
annotated property: definition

rickettsialpox
type: Class
subclass of: spotted fever
definition: A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash.
has_alternative_id: DOID:0050037
id: DOID:11103
database_cross_reference: ICD10CM:A79.1
database_cross_reference: ICD9CM:083.2
database_cross_reference: MSH:D012288
has_exact_synonym: Rickettsia akari spotted fever
database_cross_reference: SNOMEDCT_US_2015_03_01:75096007
database_cross_reference: UMLS_CUI:C0035597
has_exact_synonym: Vesicular rickettsiosis
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash.
database_cross_reference: url:http://emedicine.medscape.com/article/227956-overview#a0104
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: rickettsialpox
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:083.2
annotated target: Vesicular rickettsiosis
annotated source: rickettsialpox
annotated property: has_exact_synonym

spotted fever
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
id: DOID:11104
database_cross_reference: ICD10CM:A77
database_cross_reference: ICD10CM:A77.9
database_cross_reference: ICD9CM:082.0
database_cross_reference: SNOMEDCT_US_2015_03_01:186771002
database_cross_reference: SNOMEDCT_US_2015_03_01:186773004
database_cross_reference: SNOMEDCT_US_2015_03_01:187385002
has_exact_synonym: Spotted fever group rickettsial disease (disorder)
database_cross_reference: UMLS_CUI:C0038041
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
database_cross_reference: url:http://emedicine.medscape.com/article/785659-overview#a0104
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated source: spotted fever
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186771002
annotated target: Spotted fever group rickettsial disease (disorder)
annotated source: spotted fever
annotated property: has_exact_synonym

fundus albipunctatus
type: Class
subclass of: DOID 8501
definition: A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
id: DOID:11105
database_cross_reference: ICD10CM:H35.52
database_cross_reference: ICD9CM:362.74
database_cross_reference: MSH:C562733
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:136880
has_exact_synonym: Pigmentary retinal dystrophy
database_cross_reference: SNOMEDCT_US_2015_03_01:68222009
database_cross_reference: UMLS_CUI:C0311338
has_obo_namespace: disease_ontology
has_exact_synonym: retinitis punctata albescens

Axiom
database_cross_reference: ICD9CM_2006:362.74
annotated target: Pigmentary retinal dystrophy
annotated source: fundus albipunctatus
annotated property: has_exact_synonym

Axiom
annotated target: A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
database_cross_reference: url:http://www.omim.org/entry/136880
annotated source: fundus albipunctatus
annotated property: definition

glaucoma associated with anterior segment anomaly
type: Class
id: DOID:11106
has_exact_synonym: Glaucoma associated with anterior segment anomaly (disorder)
has_exact_synonym: Glaucoma associated with other anterior segment anomalies
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Glaucoma associated with other anterior segment anomalies
database_cross_reference: ICD9CM_2006:365.43
annotated source: glaucoma associated with anterior segment anomaly
annotated property: has_exact_synonym

Axiom
annotated target: Glaucoma associated with anterior segment anomaly (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:45623002
annotated source: glaucoma associated with anterior segment anomaly
annotated property: has_exact_synonym

glaucoma associated with ocular disorder
type: Class
id: DOID:11107
has_obo_namespace: disease_ontology
deprecated: true

malignant neoplasm of cervical part of esophagus
type: Class
id: DOID:1111
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of cervical esophagus
has_exact_synonym: malignant neoplasm of cervical oesophagus
has_exact_synonym: malignant neoplasm of the cervical esophagus
has_exact_synonym: malignant tumor of cervical part of esophagus (disorder)
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93750002
annotated target: malignant neoplasm of cervical oesophagus
annotated source: malignant neoplasm of cervical part of esophagus
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:150.0
annotated target: malignant neoplasm of cervical esophagus
annotated source: malignant neoplasm of cervical part of esophagus
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187722004
annotated target: malignant tumor of cervical part of esophagus (disorder)
annotated source: malignant neoplasm of cervical part of esophagus
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4763
annotated target: malignant neoplasm of the cervical esophagus
annotated source: malignant neoplasm of cervical part of esophagus
annotated property: has_exact_synonym

psychosexual dysfunction with female orgasmic disease
type: Class
id: DOID:11110
has_obo_namespace: disease_ontology
deprecated: true

hydronephrosis
type: Class
subclass of: DOID 5200
id: DOID:11111
database_cross_reference: ICD10CM:N13.30
database_cross_reference: ICD9CM:591
database_cross_reference: MSH:D006869
database_cross_reference: NCI:C26796
database_cross_reference: SNOMEDCT_US_2015_03_01:155866001
database_cross_reference: SNOMEDCT_US_2015_03_01:197791000
database_cross_reference: SNOMEDCT_US_2015_03_01:43064006
database_cross_reference: UMLS_CUI:C0020295
has_obo_namespace: disease_ontology

syphilitic retrobulbar neuritis
type: Class
id: DOID:11118
has_exact_synonym: Syphilitic retrobulbar neuritis (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:36276008
annotated target: Syphilitic retrobulbar neuritis (disorder)
annotated source: syphilitic retrobulbar neuritis
annotated property: has_exact_synonym

Gilles de la Tourette syndrome
type: Class
subclass of: DOID 2769
definition: A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
id: DOID:11119
database_cross_reference: EFO:0004895
has_exact_synonym: Guinon's disease
database_cross_reference: ICD10CM:F95.2
database_cross_reference: ICD9CM:307.23
database_cross_reference: MSH:D005879
database_cross_reference: NCI:C35078
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:137580
has_exact_synonym: Psychogenic tics
database_cross_reference: SNOMEDCT_US_2015_03_01:154936002
database_cross_reference: SNOMEDCT_US_2015_03_01:192624004
database_cross_reference: SNOMEDCT_US_2015_03_01:268778009
database_cross_reference: SNOMEDCT_US_2015_03_01:39098006
database_cross_reference: SNOMEDCT_US_2015_03_01:5158005
has_exact_synonym: Tourette syndrome
database_cross_reference: UMLS_CUI:C0040517
has_obo_namespace: disease_ontology
has_exact_synonym: motor-verbal tic disorder

Axiom
annotated target: A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
database_cross_reference: url:http://emedicine.medscape.com/article/1182258-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Tic_disorder
database_cross_reference: url:http://en.wikipedia.org/wiki/Tourette%27s_disorder
annotated source: Gilles de la Tourette syndrome
annotated property: definition

Axiom
database_cross_reference: CSP2005:2042-5068
annotated target: Guinon's disease
annotated source: Gilles de la Tourette syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:307.23
annotated target: motor-verbal tic disorder
annotated source: Gilles de la Tourette syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Psychogenic tics
database_cross_reference: SNOMEDCT_2005_07_31:268778009
annotated source: Gilles de la Tourette syndrome
annotated property: has_exact_synonym

neck cancer
type: Class
id: DOID:1112
has_related_synonym: cancer of neck
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of neck
has_exact_synonym: malignant neoplasm of neck NOS (disorder)
has_exact_synonym: malignant tumor of neck (disorder)
has_exact_synonym: malignant tumor of the neck
has_exact_synonym: neck cancer
deprecated: true

Axiom
database_cross_reference: CSP2005:2005-4325
annotated target: neck cancer
annotated source: neck cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4940
annotated target: malignant tumor of the neck
annotated source: neck cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:93922007
annotated target: malignant neoplasm of neck
annotated source: neck cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:188358006
annotated target: malignant neoplasm of neck NOS (disorder)
annotated source: neck cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:363489000
annotated target: malignant tumor of neck (disorder)
annotated source: neck cancer
annotated property: has_exact_synonym

psychologic dyspareunia
type: Class
subclass of: psychosexual disorder
id: DOID:11120
has_exact_synonym: Dyspareunia, psychogenic
database_cross_reference: ICD10CM:F52.6
database_cross_reference: ICD9CM:302.76
has_exact_synonym: Non-organic dyspareunia
has_exact_synonym: Psychologic dyspareunia (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:154905005
database_cross_reference: SNOMEDCT_US_2015_03_01:192470002
database_cross_reference: SNOMEDCT_US_2015_03_01:268762007
database_cross_reference: SNOMEDCT_US_2015_03_01:41021005
database_cross_reference: UMLS_CUI:C0154466
has_obo_namespace: disease_ontology

Axiom
annotated target: Dyspareunia, psychogenic
database_cross_reference: ICD9CM_2006:302.76
annotated source: psychologic dyspareunia
annotated property: has_exact_synonym

Axiom
annotated target: Non-organic dyspareunia
database_cross_reference: SNOMEDCT_2005_07_31:192470002
annotated source: psychologic dyspareunia
annotated property: has_exact_synonym

Axiom
annotated target: Psychologic dyspareunia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:41021005
annotated source: psychologic dyspareunia
annotated property: has_exact_synonym

pulpitis
type: Class
subclass of: DOID 5330
id: DOID:11121
database_cross_reference: ICD10CM:K04.0
database_cross_reference: ICD9CM:522.0
database_cross_reference: MSH:D011671
database_cross_reference: NCI:C52595
database_cross_reference: SNOMEDCT_US_2015_03_01:155638006
database_cross_reference: SNOMEDCT_US_2015_03_01:196331007
database_cross_reference: SNOMEDCT_US_2015_03_01:32620007
database_cross_reference: UMLS_CUI:C0034103
has_obo_namespace: disease_ontology
has_exact_synonym: pulpitis (disorder)
has_exact_synonym: pulpitis NOS (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:32620007
annotated target: pulpitis (disorder)
annotated source: pulpitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196331007
annotated target: pulpitis NOS (disorder)
annotated source: pulpitis
annotated property: has_exact_synonym

Henoch-Schoenlein purpura
type: Class
subclass of: DOID 9809
has_exact_synonym: Allergic purpura
has_exact_synonym: Allergic purpura (disorder)
has_exact_synonym: Allergic purpura NOS (disorder)
has_exact_synonym: Autoimmune purpura (disorder) [Ambiguous]
id: DOID:11123
has_exact_synonym: Henoch-Sch?nlein purpura
has_exact_synonym: Henoch-Sch@nlein purpura
has_exact_synonym: Henoch-Scholein purpura
has_exact_synonym: Henoch-Schonlein Purpura
has_exact_synonym: Henoch-Schonlein purpura (disorder)
database_cross_reference: ICD10CM:D69.0
database_cross_reference: ICD9CM:287.0
database_cross_reference: MSH:D011695
database_cross_reference: NCI:C34963
has_exact_synonym: Purpura, autoimmune
has_exact_synonym: Purpura: [allergic] or [Henoch-Schonlein allergy]
database_cross_reference: SNOMEDCT_US_2015_03_01:154823001
database_cross_reference: SNOMEDCT_US_2015_03_01:191305009
database_cross_reference: SNOMEDCT_US_2015_03_01:191306005
database_cross_reference: SNOMEDCT_US_2015_03_01:191308006
database_cross_reference: SNOMEDCT_US_2015_03_01:21148002
database_cross_reference: SNOMEDCT_US_2015_03_01:246074004
database_cross_reference: SNOMEDCT_US_2015_03_01:267565009
database_cross_reference: SNOMEDCT_US_2015_03_01:31912009
database_cross_reference: SNOMEDCT_US_2015_03_01:367437009
database_cross_reference: UMLS_CUI:C0034152
has_obo_namespace: disease_ontology

Axiom
annotated target: Allergic purpura
database_cross_reference: ICD9CM_2006:287.0
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:287.0
annotated target: Purpura, autoimmune
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Autoimmune purpura (disorder) [Ambiguous]
database_cross_reference: SNOMEDCT_2005_07_31:31912009
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:4006-0049
annotated target: Henoch-Scholein purpura
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Allergic purpura NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:191308006
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Allergic purpura (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:21148002
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Henoch-Schonlein purpura (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:191306005
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Henoch-Sch@nlein purpura
database_cross_reference: SNOMEDCT_2005_07_31:367437009
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Henoch-Schonlein Purpura
database_cross_reference: NCI2004_11_17:C34963
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Henoch-Sch?nlein purpura
database_cross_reference: SNOMEDCT_2005_07_31:246074004
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Allergic purpura
database_cross_reference: SNOMEDCT_2005_07_31:191305009
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Purpura: [allergic] or [Henoch-Schonlein allergy]
database_cross_reference: SNOMEDCT_2005_07_31:154823001
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

Axiom
annotated target: Purpura: [allergic] or [Henoch-Schonlein allergy]
database_cross_reference: SNOMEDCT_2005_07_31:267565009
annotated source: Henoch-Schoenlein purpura
annotated property: has_exact_synonym

qualitative platelet defect
type: Class
subclass of: DOID 2218
id: DOID:11125
database_cross_reference: ICD10CM:D69.1
database_cross_reference: ICD9CM:287.1
has_exact_synonym: Qualitative platelet deficiency NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:191309003
database_cross_reference: SNOMEDCT_US_2015_03_01:191311007
database_cross_reference: SNOMEDCT_US_2015_03_01:267532001
database_cross_reference: UMLS_CUI:C0235604
has_obo_namespace: disease_ontology

Axiom
annotated target: Qualitative platelet deficiency NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:191311007
annotated source: qualitative platelet defect
annotated property: has_exact_synonym

acquired thrombocytopenia
type: Class
subclass of: DOID 1588
id: DOID:11126
database_cross_reference: ICD10CM:D69.5
database_cross_reference: ICD9CM:287.4
database_cross_reference: SNOMEDCT_US_2015_03_01:154826009
database_cross_reference: SNOMEDCT_US_2015_03_01:191325008
database_cross_reference: SNOMEDCT_US_2015_03_01:267537007
database_cross_reference: SNOMEDCT_US_2015_03_01:74576004
database_cross_reference: UMLS_CUI:C0154301
has_exact_synonym: acquired thrombocytopenia (disorder)
has_obo_namespace: disease_ontology
has_exact_synonym: secondary thrombocytopenia
has_exact_synonym: secondary thrombocytopenia NOS
has_exact_synonym: secondary thrombocytopenia NOS (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:74576004
annotated target: acquired thrombocytopenia (disorder)
annotated source: acquired thrombocytopenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:287.4
annotated target: secondary thrombocytopenia
annotated source: acquired thrombocytopenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191325008
annotated target: secondary thrombocytopenia NOS
annotated source: acquired thrombocytopenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:154826009
annotated target: secondary thrombocytopenia
annotated source: acquired thrombocytopenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:267537007
annotated target: secondary thrombocytopenia NOS (disorder)
annotated source: acquired thrombocytopenia
annotated property: has_exact_synonym

dislocation of ear ossicle
type: Class
subclass of: DOID 2742
id: DOID:11129
database_cross_reference: ICD9CM:385.23
database_cross_reference: UMLS_CUI:C0155487
has_obo_namespace: disease_ontology

malignant esophageal neoplasm by anatomic region
type: Class
id: DOID:1113
has_obo_namespace: disease_ontology
deprecated: true

secondary hypertension
type: Class
subclass of: hypertension
id: DOID:11130
database_cross_reference: ICD10CM:I15
database_cross_reference: ICD10CM:I15.9
database_cross_reference: ICD9CM:405
database_cross_reference: ICD9CM:405.9
database_cross_reference: NCI:C3657
database_cross_reference: SNOMEDCT_US_2015_03_01:155300002
database_cross_reference: SNOMEDCT_US_2015_03_01:194789002
database_cross_reference: SNOMEDCT_US_2015_03_01:194792003
database_cross_reference: SNOMEDCT_US_2015_03_01:31992008
database_cross_reference: UMLS_CUI:C0155616
has_obo_namespace: disease_ontology

prostatic hypertrophy
type: Class
subclass of: DOID 47
id: DOID:11132
has_obo_namespace: disease_ontology

prostatic cyst
type: Class
subclass of: prostatic hypertrophy
has_exact_synonym: Cyst of prostate
id: DOID:11133
database_cross_reference: ICD10CM:N42.83
database_cross_reference: ICD9CM:600.3
has_exact_synonym: Prostatic cyst (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:409658007
database_cross_reference: UMLS_CUI:C1443972
has_obo_namespace: disease_ontology

Axiom
annotated target: Cyst of prostate
database_cross_reference: ICD9CM_2006:600.3
annotated source: prostatic cyst
annotated property: has_exact_synonym

Axiom
annotated target: Prostatic cyst (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:409658007
annotated source: prostatic cyst
annotated property: has_exact_synonym

prolapse of lacrimal gland
type: Class
subclass of: DOID 1400
id: DOID:11134
has_exact_synonym: Dislocation of lacrimal gland
has_exact_synonym: Dislocation of lacrimal gland (disorder)
database_cross_reference: ICD10CM:H04.16
database_cross_reference: ICD9CM:375.16
database_cross_reference: SNOMEDCT_US_2015_03_01:84777002
database_cross_reference: UMLS_CUI:C0155231
has_obo_namespace: disease_ontology

Axiom
annotated target: Dislocation of lacrimal gland (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:84777002
annotated source: prolapse of lacrimal gland
annotated property: has_exact_synonym

Axiom
annotated target: Dislocation of lacrimal gland
database_cross_reference: ICD9CM_2006:375.16
annotated source: prolapse of lacrimal gland
annotated property: has_exact_synonym

esophagus sarcoma
type: Class
subclass of: sarcoma
subclass of: DOID 5041
definition: An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
id: DOID:1114
database_cross_reference: NCI:C5341
database_cross_reference: UMLS_CUI:C1333466
has_obo_namespace: disease_ontology
has_related_synonym: esophageal sarcoma

Axiom
annotated target: An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sarcoma
annotated source: esophagus sarcoma
annotated property: definition

anthrax septicemia
type: Class
has_exact_synonym: Anthrax septicemia (disorder)
id: DOID:11144
has_obo_namespace: disease_ontology
deprecated: true
in_subset: GOLD
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: Anthrax septicemia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:14972006
annotated source: anthrax septicemia
annotated property: has_exact_synonym

Pars plana primary cyst
type: Class
id: DOID:11145
has_obo_namespace: disease_ontology
has_exact_synonym: primary cyst of pars plana
has_exact_synonym: primary cyst of pars plana (disorder)
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:47269005
annotated target: primary cyst of pars plana (disorder)
annotated source: Pars plana primary cyst
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:364.63
annotated target: primary cyst of pars plana
annotated source: Pars plana primary cyst
annotated property: has_exact_synonym

vascular lesions of cord complicating labor and delivery
type: Class
has_alternative_id: DOID:11146
id: DOID:11147
has_alternative_id: DOID:14083
has_exact_synonym: antepartum vascular lesions of cord complicating labor and delivery
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: vascular lesions of cord complicating labor and delivery, delivered

hypersecretion glaucoma
type: Class
subclass of: DOID 1686
id: DOID:11148
database_cross_reference: ICD10CM:H40.82
database_cross_reference: ICD9CM:365.81
database_cross_reference: SNOMEDCT_US_2015_03_01:29369005
database_cross_reference: UMLS_CUI:C0154968
has_obo_namespace: disease_ontology
has_exact_synonym: hypersecretion glaucoma (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:29369005
annotated target: hypersecretion glaucoma (disorder)
annotated source: hypersecretion glaucoma
annotated property: has_exact_synonym

aqueous misdirection
type: Class
subclass of: DOID 1686
id: DOID:11149
database_cross_reference: ICD10CM:H40.83
database_cross_reference: ICD9CM:365.83
database_cross_reference: UMLS_CUI:C1135189
has_obo_namespace: disease_ontology

sarcoma
type: Class
subclass of: cell type cancer
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
id: DOID:1115
has_alternative_id: DOID:3936
database_cross_reference: ICD10CM:C49
database_cross_reference: ICD9CM:171
database_cross_reference: ICD9CM:171.9
database_cross_reference: SNOMEDCT_US_2015_03_01:187985009
database_cross_reference: SNOMEDCT_US_2015_03_01:93765001
database_cross_reference: UMLS_CUI:C0153519
has_exact_synonym: connective and soft tissue neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: tumor of soft tissue and skeleton
in_subset: DO cancer slim
in_subset: TopNodes DOcancerslim

Axiom
database_cross_reference: NCI2004_11_17:C3810
annotated target: tumor of soft tissue and skeleton
annotated source: sarcoma
annotated property: has_exact_synonym

Axiom
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/Sarcoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Sarcoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45562
annotated source: sarcoma
annotated property: definition

glaucoma due to raised episcleral venous pressure
type: Class
id: DOID:11150
has_exact_synonym: Glaucoma with increased episcleral venous pressure
has_exact_synonym: Glaucoma with increased episcleral venous pressure (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Glaucoma with increased episcleral venous pressure
database_cross_reference: ICD9CM_2006:365.82
annotated source: glaucoma due to raised episcleral venous pressure
annotated property: has_exact_synonym

Axiom
annotated target: Glaucoma with increased episcleral venous pressure (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:34623005
annotated source: glaucoma due to raised episcleral venous pressure
annotated property: has_exact_synonym

cholecystolithiasis
type: Class
subclass of: gallbladder disease
id: DOID:11151
database_cross_reference: MSH:D041761
database_cross_reference: NCI:C34443
database_cross_reference: SNOMEDCT_US_2015_03_01:197376000
database_cross_reference: SNOMEDCT_US_2015_03_01:235919008
database_cross_reference: SNOMEDCT_US_2015_03_01:266541001
database_cross_reference: SNOMEDCT_US_2015_03_01:44900007
database_cross_reference: UMLS_CUI:C0947622
has_obo_namespace: disease_ontology

miliaria rubra
type: Class
subclass of: DOID 1382
id: DOID:11153
database_cross_reference: ICD10CM:L74.0
database_cross_reference: ICD10CM:L74.2
database_cross_reference: ICD9CM:705.1
database_cross_reference: MSH:D008883
has_exact_synonym: Miliaria crystallina (disorder)
has_exact_synonym: Miliaria rubra
has_exact_synonym: Prickly heat
has_exact_synonym: Prickly heat (disorder)
has_exact_synonym: Prickly heat - miliaria
has_exact_synonym: Prickly heat NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:156415007
database_cross_reference: SNOMEDCT_US_2015_03_01:201190003
database_cross_reference: SNOMEDCT_US_2015_03_01:201194007
database_cross_reference: SNOMEDCT_US_2015_03_01:201197000
database_cross_reference: SNOMEDCT_US_2015_03_01:267813002
database_cross_reference: SNOMEDCT_US_2015_03_01:44279002
database_cross_reference: SNOMEDCT_US_2015_03_01:72658003
has_exact_synonym: Sudamina
database_cross_reference: UMLS_CUI:C0162423
has_obo_namespace: disease_ontology

Axiom
annotated target: Miliaria crystallina (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:44279002
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:705.1
annotated target: Sudamina
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
annotated target: Prickly heat (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:72658003
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
annotated target: Prickly heat NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:201197000
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:705.1
annotated target: Prickly heat
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
annotated target: Miliaria rubra
database_cross_reference: SNOMEDCT_2005_07_31:156415007
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
annotated target: Miliaria rubra
database_cross_reference: SNOMEDCT_2005_07_31:201194007
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
annotated target: Miliaria rubra
database_cross_reference: SNOMEDCT_2005_07_31:267813002
annotated source: miliaria rubra
annotated property: has_exact_synonym

Axiom
annotated target: Prickly heat - miliaria
database_cross_reference: SNOMEDCT_2005_07_31:201190003
annotated source: miliaria rubra
annotated property: has_exact_synonym

hypohidrosis
type: Class
subclass of: DOID 1383
id: DOID:11155
has_exact_synonym: Hypohidrosis (disorder)
database_cross_reference: ICD10CM:L74.4
database_cross_reference: MSH:D007007
database_cross_reference: NCI:C34718
has_exact_synonym: Oligohidrosis
database_cross_reference: SNOMEDCT_US_2015_03_01:201189007
database_cross_reference: SNOMEDCT_US_2015_03_01:45004005
database_cross_reference: UMLS_CUI:C0020620
has_obo_namespace: disease_ontology

Axiom
annotated target: Oligohidrosis
database_cross_reference: SNOMEDCT_2005_07_31:201189007
annotated source: hypohidrosis
annotated property: has_exact_synonym

Axiom
annotated target: Hypohidrosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:45004005
annotated source: hypohidrosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:705.0
annotated target: Oligohidrosis
annotated source: hypohidrosis
annotated property: has_exact_synonym

anhidrosis
type: Class
subclass of: DOID 1383
has_exact_synonym: Adiaphoresis
has_exact_synonym: Anhidrosis (disorder)
id: DOID:11156
database_cross_reference: ICD10CM:L74.4
database_cross_reference: ICD9CM:705.0
database_cross_reference: MSH:D007007
database_cross_reference: NCI:C34385
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:206600
database_cross_reference: SNOMEDCT_US_2015_03_01:14662005
database_cross_reference: SNOMEDCT_US_2015_03_01:156414006
database_cross_reference: SNOMEDCT_US_2015_03_01:201189007
database_cross_reference: SNOMEDCT_US_2015_03_01:39659002
database_cross_reference: UMLS_CUI:C0003028
has_exact_synonym: absence of sweating (finding)
has_obo_namespace: disease_ontology

Axiom
annotated target: Anhidrosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:39659002
annotated source: anhidrosis
annotated property: has_exact_synonym

Axiom
annotated target: Adiaphoresis
database_cross_reference: NCI2004_11_17:C34385
annotated source: anhidrosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:14662005
annotated target: absence of sweating (finding)
annotated source: anhidrosis
annotated property: has_exact_synonym

disorder of optic chiasm associated with non-pituitary neoplasm
type: Class
id: DOID:11158
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of optic chiasm associated with non-pituitary neoplasm (disorder)
has_exact_synonym: disorder of optic chiasm associated with other neoplasm
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:377.52
annotated target: disorder of optic chiasm associated with other neoplasm
annotated source: disorder of optic chiasm associated with non-pituitary neoplasm
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:64246009
annotated target: disorder of optic chiasm associated with non-pituitary neoplasm (disorder)
annotated source: disorder of optic chiasm associated with non-pituitary neoplasm
annotated property: has_exact_synonym

pertussis
type: Class
subclass of: commensal bacterial infectious disease
definition: A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
id: DOID:1116
has_alternative_id: DOID:11333
has_alternative_id: DOID:11751
database_cross_reference: KEGG:05133
database_cross_reference: MSH:D001885
database_cross_reference: SNOMEDCT_US_2015_03_01:26484003
database_cross_reference: UMLS_CUI:C0006015
has_exact_synonym: WC - Whooping cough
has_exact_synonym: bordetella infection
has_obo_namespace: disease_ontology
has_exact_synonym: whooping cough
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
database_cross_reference: url:http://en.wikipedia.org/wiki/Pertussis
database_cross_reference: url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800
annotated source: pertussis
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:27836007
annotated target: WC - Whooping cough
annotated source: pertussis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0368-3326
annotated target: whooping cough
annotated source: pertussis
annotated property: has_exact_synonym

neonatal respiratory failure
type: Class
subclass of: respiratory failure
id: DOID:11161
database_cross_reference: ICD10CM:P28.5
database_cross_reference: ICD9CM:770.84
has_exact_synonym: Neonatal respiratory failure (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:206317005
database_cross_reference: SNOMEDCT_US_2015_03_01:95619009
database_cross_reference: UMLS_CUI:C0521648
has_obo_namespace: disease_ontology
has_exact_synonym: respiratory failure of newborn

Axiom
database_cross_reference: ICD9CM_2006:770.84
annotated target: respiratory failure of newborn
annotated source: neonatal respiratory failure
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:206317005
annotated target: respiratory failure of newborn
annotated source: neonatal respiratory failure
annotated property: has_exact_synonym

Axiom
annotated target: Neonatal respiratory failure (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:95619009
annotated source: neonatal respiratory failure
annotated property: has_exact_synonym

respiratory failure
type: Class
subclass of: DOID 850
definition: A lung disease characterized by inadequate gas exchange by the respiratory system.
id: DOID:11162
has_alternative_id: DOID:11391
has_alternative_id: DOID:11392
has_alternative_id: DOID:11393
database_cross_reference: ICD10CM:J96.0
database_cross_reference: ICD9CM:518.81
database_cross_reference: NCI:C27043
database_cross_reference: SNOMEDCT_US_2015_03_01:65710008
database_cross_reference: UMLS_CUI:C0264490
has_exact_synonym: acute and chronic respiratory failure
has_exact_synonym: acute respiratory Failure
has_exact_synonym: acute-on-chronic respiratory failure (disorder)
has_exact_synonym: chronic respiratory failure
has_obo_namespace: disease_ontology
has_exact_synonym: respiratory insufficiency/failure

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:67905004
annotated target: acute-on-chronic respiratory failure (disorder)
annotated source: respiratory failure
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2596-8662
annotated target: respiratory insufficiency/failure
annotated source: respiratory failure
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C27043
annotated target: acute respiratory Failure
annotated source: respiratory failure
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:518.84
annotated target: acute and chronic respiratory failure
annotated source: respiratory failure
annotated property: has_exact_synonym

Axiom
annotated target: A lung disease characterized by inadequate gas exchange by the respiratory system.
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_failure
annotated source: respiratory failure
annotated property: definition

apnea of prematurity
type: Class
id: DOID:11163
has_obo_namespace: disease_ontology
has_exact_synonym: primary apnea of newborn
deprecated: true

band keratopathy
type: Class
subclass of: DOID 1237
has_exact_synonym: Band-shaped keratopathy
has_exact_synonym: Band-shaped keratopathy (disorder)
id: DOID:11164
database_cross_reference: ICD10CM:H18.42
database_cross_reference: ICD9CM:371.43
database_cross_reference: MSH:C562399
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:217500
database_cross_reference: SNOMEDCT_US_2015_03_01:35055000
database_cross_reference: UMLS_CUI:C0155120
has_obo_namespace: disease_ontology

Axiom
annotated target: Band-shaped keratopathy
database_cross_reference: ICD9CM_2006:371.43
annotated source: band keratopathy
annotated property: has_exact_synonym

Axiom
annotated target: Band-shaped keratopathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:35055000
annotated source: band keratopathy
annotated property: has_exact_synonym

common wart
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
id: DOID:11165
database_cross_reference: ICD10CM:B07
database_cross_reference: ICD10CM:B07.8
database_cross_reference: ICD9CM:078.1
database_cross_reference: MSH:D014860
database_cross_reference: NCI:C27087
database_cross_reference: NCI:C5028
database_cross_reference: SNOMEDCT_US_2015_03_01:123201004
database_cross_reference: SNOMEDCT_US_2015_03_01:154361008
database_cross_reference: SNOMEDCT_US_2015_03_01:186685000
database_cross_reference: SNOMEDCT_US_2015_03_01:186686004
database_cross_reference: SNOMEDCT_US_2015_03_01:266198004
database_cross_reference: SNOMEDCT_US_2015_03_01:30285000
database_cross_reference: SNOMEDCT_US_2015_03_01:367507002
database_cross_reference: SNOMEDCT_US_2015_03_01:57019003
database_cross_reference: SNOMEDCT_US_2015_03_01:75003008
database_cross_reference: UMLS_CUI:C0043037
has_obo_namespace: disease_ontology

Axiom
annotated target: A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
database_cross_reference: url:http://emedicine.medscape.com/article/219110-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Wart
annotated source: common wart
annotated property: definition

papillomavirus infectious disease
type: Class
definition: A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
id: DOID:11166
has_alternative_id: DOID:4146
has_exact_synonym: Human papilloma Virus Infection
has_exact_synonym: Human papilloma virus infection (disorder)
has_exact_synonym: Human papilloma virus infection, NOS
has_related_synonym: Tumor Virus Infections
has_obo_namespace: disease_ontology
has_exact_synonym: human papilloma virus infectious disease
deprecated: true

Axiom
annotated target: Human papilloma virus infection (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:240532009
annotated source: papillomavirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Human papilloma Virus Infection
database_cross_reference: NCI2004_11_17:C27851
annotated source: papillomavirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
database_cross_reference: url:http://emedicine.medscape.com/article/219110-overview
annotated source: papillomavirus infectious disease
annotated property: definition

Axiom
annotated target: Human papilloma virus infection, NOS
database_cross_reference: SNOMEDCT_2005_07_31:367507002
database_cross_reference: SNOMEDCT_2005_07_31:75003008
annotated source: papillomavirus infectious disease
annotated property: has_exact_synonym

uterine cervix condylomata acuminata
type: Class
definition: An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts.
has_exact_synonym: Condyloma of the Cervix Uteri
id: DOID:11167
has_obo_namespace: disease_ontology
deprecated: true
in_subset: sexually transmitted infectious disease

Axiom
annotated target: An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts.
database_cross_reference: url:http://emedicine.medscape.com/article/781735-overview
annotated source: uterine cervix condylomata acuminata
annotated property: definition

Axiom
annotated target: Condyloma of the Cervix Uteri
database_cross_reference: NCI2004_11_17:C8421
annotated source: uterine cervix condylomata acuminata
annotated property: has_exact_synonym

anogenital venereal wart
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
has_exact_synonym: Anogenital Human papilloma Virus Infectious Disease
has_exact_synonym: Anogenital warts (disorder)
has_related_synonym: Condyloma acuminatum
id: DOID:11168
has_alternative_id: DOID:7877
has_exact_synonym: Genital warts
database_cross_reference: ICD10CM:A63.0
database_cross_reference: ICD9CM:078.11
database_cross_reference: MSH:D003218
database_cross_reference: NCI:C2960
database_cross_reference: NCI:C4820
database_cross_reference: SNOMEDCT_US_2015_03_01:123157002
database_cross_reference: SNOMEDCT_US_2015_03_01:154361008
database_cross_reference: SNOMEDCT_US_2015_03_01:154365004
database_cross_reference: SNOMEDCT_US_2015_03_01:186688003
database_cross_reference: SNOMEDCT_US_2015_03_01:22020001
database_cross_reference: SNOMEDCT_US_2015_03_01:240542006
database_cross_reference: SNOMEDCT_US_2015_03_01:266113007
database_cross_reference: SNOMEDCT_US_2015_03_01:266198004
database_cross_reference: SNOMEDCT_US_2015_03_01:302812006
database_cross_reference: UMLS_CUI:C0009663
database_cross_reference: UMLS_CUI:C0554632
has_obo_namespace: disease_ontology
has_exact_synonym: genital wart virus infectious disease
has_exact_synonym: venereal wart
in_subset: sexually transmitted infectious disease

Axiom
annotated target: Anogenital warts (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:240542006
annotated source: anogenital venereal wart
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html
annotated source: anogenital venereal wart
annotated property: definition

Axiom
annotated target: Condyloma acuminatum
database_cross_reference: ICD9CM_2006:078.11
annotated source: anogenital venereal wart
annotated property: has_related_synonym

Axiom
database_cross_reference: CSP2005:2020-4312
annotated target: venereal wart
annotated source: anogenital venereal wart
annotated property: has_exact_synonym

Axiom
annotated target: Anogenital Human papilloma Virus Infectious Disease
database_cross_reference: NCI2004_11_17:C4820
annotated source: anogenital venereal wart
annotated property: has_exact_synonym

Axiom
annotated target: Genital warts
database_cross_reference: SNOMEDCT_2005_07_31:154365004
annotated source: anogenital venereal wart
annotated property: has_exact_synonym

vaginal condylomata acuminata
type: Class
definition: An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts.
id: DOID:11169
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: vaginal Condyloma Acuminatum
in_subset: sexually transmitted infectious disease

Axiom
annotated target: An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts.
database_cross_reference: url:http://emedicine.medscape.com/article/781735-overview
annotated source: vaginal condylomata acuminata
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C4947
annotated target: vaginal Condyloma Acuminatum
annotated source: vaginal condylomata acuminata
annotated property: has_exact_synonym

vulvar condylomata acuminata
type: Class
definition: An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts.
has_exact_synonym: Condyloma acuminata of vulva (disorder)
id: DOID:11170
has_exact_synonym: Vulvar Condyloma
has_obo_namespace: disease_ontology
deprecated: true
in_subset: sexually transmitted infectious disease

Axiom
annotated target: Condyloma acuminata of vulva (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:237110007
annotated source: vulvar condylomata acuminata
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4382
annotated target: Vulvar Condyloma
annotated source: vulvar condylomata acuminata
annotated property: has_exact_synonym

Axiom
annotated target: An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts.
database_cross_reference: url:http://emedicine.medscape.com/article/781735-overview
annotated source: vulvar condylomata acuminata
annotated property: definition

urethral condylomata acuminata
type: Class
definition: An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts.
id: DOID:11171
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: urethral Condylomata
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: NCI2004_11_17:C6169
annotated target: urethral Condylomata
annotated source: urethral condylomata acuminata
annotated property: has_exact_synonym

Axiom
annotated target: An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts.
database_cross_reference: url:http://emedicine.medscape.com/article/781735-overview
annotated source: urethral condylomata acuminata
annotated property: definition

anal condylomata acuminata
type: Class
definition: An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts.
has_exact_synonym: Condylomata of anus
id: DOID:11172
has_obo_namespace: disease_ontology
deprecated: true
in_subset: sexually transmitted infectious disease

Axiom
annotated target: An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts.
database_cross_reference: url:http://emedicine.medscape.com/article/781735-overview
annotated source: anal condylomata acuminata
annotated property: definition

Axiom
annotated target: Condylomata of anus
database_cross_reference: NCI2004_11_17:C4054
annotated source: anal condylomata acuminata
annotated property: has_exact_synonym

enophthalmos
type: Class
subclass of: DOID 930
id: DOID:11175
has_exact_synonym: Enophthalmos (disorder)
has_exact_synonym: Enophthalmos NOS (disorder)
has_exact_synonym: Enophthalmos, unspecified as to cause
database_cross_reference: ICD10CM:H05.4
database_cross_reference: ICD10CM:H05.40
database_cross_reference: ICD9CM:376.5
database_cross_reference: ICD9CM:376.50
database_cross_reference: MSH:D015841
database_cross_reference: NCI:C79552
database_cross_reference: SNOMEDCT_US_2015_03_01:155200004
database_cross_reference: SNOMEDCT_US_2015_03_01:194031000
database_cross_reference: SNOMEDCT_US_2015_03_01:267746003
database_cross_reference: SNOMEDCT_US_2015_03_01:80093006
database_cross_reference: UMLS_CUI:C0014306
has_obo_namespace: disease_ontology

Axiom
annotated target: Enophthalmos (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:80093006
annotated source: enophthalmos
annotated property: has_exact_synonym

Axiom
annotated target: Enophthalmos NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:194031000
annotated source: enophthalmos
annotated property: has_exact_synonym

Axiom
annotated target: Enophthalmos, unspecified as to cause
database_cross_reference: ICD9CM_2006:376.50
annotated source: enophthalmos
annotated property: has_exact_synonym

total internal ophthalmoplegia
type: Class
subclass of: eye accommodation disease
subclass of: DOID 238
id: DOID:11177
database_cross_reference: ICD9CM:367.52
database_cross_reference: SNOMEDCT_US_2015_03_01:193630009
database_cross_reference: SNOMEDCT_US_2015_03_01:86266009
has_exact_synonym: Total internal ophthalmoplegia (disorder)
has_exact_synonym: Total or complete internal ophthalmoplegia
database_cross_reference: UMLS_CUI:C0152197
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:367.52
annotated target: Total or complete internal ophthalmoplegia
annotated source: total internal ophthalmoplegia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:86266009
annotated target: Total internal ophthalmoplegia (disorder)
annotated source: total internal ophthalmoplegia
annotated property: has_exact_synonym

otitis media with effusion
type: Class
definition: A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media.
id: DOID:11179
has_exact_synonym: Glue ear
has_exact_synonym: Mucoid otitis media
has_exact_synonym: Mucoid otitis media NOS (disorder)
has_exact_synonym: Otitis media with effusion
has_exact_synonym: Otitis media with effusion - mucoid
has_exact_synonym: Otitis media, transudative
has_exact_synonym: Secretory Otitis Media
has_exact_synonym: Transudative otitis media
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Glue ear
database_cross_reference: SNOMEDCT_2005_07_31:194251006
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:43481006
annotated target: Transudative otitis media
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:381.4
annotated target: Otitis media, transudative
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Mucoid otitis media
database_cross_reference: SNOMEDCT_2005_07_31:155220003
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Otitis media with effusion
database_cross_reference: SNOMEDCT_2005_07_31:232255003
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Glue ear
database_cross_reference: MTHICD9_2006:381.2
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media.
database_cross_reference: url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion
annotated source: otitis media with effusion
annotated property: definition

Axiom
database_cross_reference: NCI2004_11_17:C34886
annotated target: Secretory Otitis Media
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Mucoid otitis media
database_cross_reference: SNOMEDCT_2005_07_31:267754001
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Otitis media with effusion - mucoid
database_cross_reference: SNOMEDCT_2005_07_31:78868004
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Mucoid otitis media
database_cross_reference: SNOMEDCT_2005_07_31:62450001
annotated source: otitis media with effusion
annotated property: has_exact_synonym

Axiom
annotated target: Mucoid otitis media NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:194264007
annotated source: otitis media with effusion
annotated property: has_exact_synonym

non-suppurative otitis media
type: Class
subclass of: otitis media
definition: A otitis media which involves transudation of fluid in the middle ear without pus formation.
id: DOID:11180
database_cross_reference: ICD10CM:H65
database_cross_reference: ICD10CM:H65.9
database_cross_reference: ICD10CM:H65.90
database_cross_reference: ICD9CM:381.4
has_exact_synonym: Non supp. otitis media
has_exact_synonym: Non-suppurative otitis media (disorder)
has_exact_synonym: Non-suppurative otitis media NOS (disorder)
has_exact_synonym: Nonsuppurative otitis media (disorder)
has_exact_synonym: Nonsuppurative otitis media, not specified as acute or chronic
database_cross_reference: SNOMEDCT_US_2015_03_01:194260003
database_cross_reference: SNOMEDCT_US_2015_03_01:194265008
database_cross_reference: SNOMEDCT_US_2015_03_01:267753007
database_cross_reference: SNOMEDCT_US_2015_03_01:275481002
database_cross_reference: SNOMEDCT_US_2015_03_01:45935001
database_cross_reference: UMLS_CUI:C0271446
has_exact_synonym: Unspecified non-suppurative otitis media (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: Non-suppurative otitis media NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:194265008
annotated source: non-suppurative otitis media
annotated property: has_exact_synonym

Axiom
annotated target: Non supp. otitis media
database_cross_reference: SNOMEDCT_2005_07_31:267753007
annotated source: non-suppurative otitis media
annotated property: has_exact_synonym

Axiom
annotated target: Nonsuppurative otitis media (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:45935001
annotated source: non-suppurative otitis media
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194260003
annotated target: Unspecified non-suppurative otitis media (disorder)
annotated source: non-suppurative otitis media
annotated property: has_exact_synonym

Axiom
annotated target: A otitis media which involves transudation of fluid in the middle ear without pus formation.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971
annotated source: non-suppurative otitis media
annotated property: definition

Axiom
database_cross_reference: ICD9CM_2006:381.4
annotated target: Nonsuppurative otitis media, not specified as acute or chronic
annotated source: non-suppurative otitis media
annotated property: has_exact_synonym

Axiom
annotated target: Non-suppurative otitis media (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:275481002
annotated source: non-suppurative otitis media
annotated property: has_exact_synonym

serous glue ear
type: Class
subclass of: non-suppurative otitis media
definition: A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.
id: DOID:11181
database_cross_reference: ICD10CM:H65.2
database_cross_reference: ICD10CM:H65.20
database_cross_reference: ICD9CM:381.1
database_cross_reference: SNOMEDCT_US_2015_03_01:155219009
database_cross_reference: SNOMEDCT_US_2015_03_01:194245001
database_cross_reference: SNOMEDCT_US_2015_03_01:194250007
database_cross_reference: SNOMEDCT_US_2015_03_01:81564005
database_cross_reference: UMLS_CUI:C0155421
has_obo_namespace: disease_ontology

Axiom
annotated target: A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.
database_cross_reference: url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion
annotated source: serous glue ear
annotated property: definition

chronic otitis media with effusion
type: Class
definition: A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting.
id: DOID:11182
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting.
database_cross_reference: url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false
annotated source: chronic otitis media with effusion
annotated property: definition

Haemophilus influenzae septicemia
type: Class
id: DOID:11183
has_exact_synonym: Hemophilus influenzae septicemia (disorder)
has_exact_synonym: Septicemia due to H. influenzae
has_exact_synonym: Septicemia due to hemophilus influenzae [H. influenzae]
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
database_cross_reference: ICD9CM_2006:038.41
annotated target: Septicemia due to hemophilus influenzae [H. influenzae]
annotated source: Haemophilus influenzae septicemia
annotated property: has_exact_synonym

Axiom
annotated target: Hemophilus influenzae septicemia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:23863009
annotated source: Haemophilus influenzae septicemia
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:038.41
annotated target: Septicemia due to H. influenzae
annotated source: Haemophilus influenzae septicemia
annotated property: has_exact_synonym

acute conjunctivitis
type: Class
subclass of: DOID 6195
id: DOID:11184
database_cross_reference: ICD10CM:H10.02
database_cross_reference: ICD9CM:372.03
database_cross_reference: UMLS_CUI:C0029668
has_obo_namespace: disease_ontology

allescheriosis
type: Class
subclass of: primary systemic mycosis
definition: A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
has_exact_synonym: Allescheriosis (disorder)
has_exact_synonym: Allescheriosis [Petriellidosis]
id: DOID:11186
database_cross_reference: ICD10CM:B48.2
database_cross_reference: ICD9CM:117.6
has_exact_synonym: Petriellidosis
database_cross_reference: SNOMEDCT_US_2015_03_01:80936003
database_cross_reference: UMLS_CUI:C0153285
has_obo_namespace: disease_ontology

Axiom
annotated target: Allescheriosis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:80936003
annotated source: allescheriosis
annotated property: has_exact_synonym

Axiom
annotated target: Allescheriosis [Petriellidosis]
database_cross_reference: ICD9CM_2006:117.6
annotated source: allescheriosis
annotated property: has_exact_synonym

Axiom
annotated target: A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
database_cross_reference: url:http://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/934264
annotated source: allescheriosis
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:117.6
annotated target: Petriellidosis
annotated source: allescheriosis
annotated property: has_exact_synonym

pulp degeneration
type: Class
subclass of: DOID 5330
id: DOID:11189
database_cross_reference: ICD10CM:K04.2
database_cross_reference: ICD9CM:522.2
database_cross_reference: NCI:C34962
database_cross_reference: SNOMEDCT_US_2015_03_01:196335003
database_cross_reference: SNOMEDCT_US_2015_03_01:22361007
database_cross_reference: UMLS_CUI:C0034100
has_obo_namespace: disease_ontology

large for dates affecting management of mother
type: Class
has_alternative_id: DOID:10214
has_alternative_id: DOID:1118
id: DOID:1119
has_exact_synonym: Excessive fetal growth affecting management of mother, delivered
has_exact_synonym: Excessive fetal growth, affecting management of mother, antepartum
has_exact_synonym: Excessive fetal growth, affecting management of mother, delivered
has_exact_synonym: antepartum excessive fetal growth affecting management of mother
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Excessive fetal growth, affecting management of mother, antepartum
database_cross_reference: ICD9CM_2006:656.63
annotated source: large for dates affecting management of mother
annotated property: has_exact_synonym

Axiom
annotated target: Excessive fetal growth, affecting management of mother, delivered
database_cross_reference: ICD9CM_2006:656.61
annotated source: large for dates affecting management of mother
annotated property: has_exact_synonym

pseudomembranous conjunctivitis
type: Class
subclass of: acute conjunctivitis
definition: A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
id: DOID:11190
database_cross_reference: ICD10CM:H10.22
database_cross_reference: ICD9CM:372.04
database_cross_reference: NCI:C35196
has_exact_synonym: Pseudomembranous Conjunctivitis
has_exact_synonym: Pseudomembranous conjunctivitis (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:193862009
database_cross_reference: SNOMEDCT_US_2015_03_01:267643002
database_cross_reference: SNOMEDCT_US_2015_03_01:72115001
database_cross_reference: UMLS_CUI:C0155144
has_obo_namespace: disease_ontology

Axiom
annotated target: A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
database_cross_reference: url:http://bjo.bmj.com/content/55/5/312.full.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/9400798
annotated source: pseudomembranous conjunctivitis
annotated property: definition

Axiom
annotated target: Pseudomembranous conjunctivitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:72115001
annotated source: pseudomembranous conjunctivitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C35196
annotated target: Pseudomembranous Conjunctivitis
annotated source: pseudomembranous conjunctivitis
annotated property: has_exact_synonym

syndactyly
type: Class
subclass of: DOID_11971
definition: A synostosis that results_in the fusion of two or more digits.
id: DOID:11193
database_cross_reference: ICD10CM:Q70
database_cross_reference: ICD10CM:Q70.9
database_cross_reference: ICD9CM:755.1
database_cross_reference: MSH:D013576
database_cross_reference: NCI:C87125
database_cross_reference: OMIM:185900
database_cross_reference: OMIM:186100
database_cross_reference: OMIM:186200
database_cross_reference: OMIM:186300
database_cross_reference: ORDO:295012
database_cross_reference: ORDO:90025
database_cross_reference: ORDO:93402
database_cross_reference: ORDO:93403
database_cross_reference: ORDO:93404
database_cross_reference: ORDO:93406
database_cross_reference: SNOMEDCT_US_2015_03_01:111313001
database_cross_reference: SNOMEDCT_US_2015_03_01:156989004
database_cross_reference: SNOMEDCT_US_2015_03_01:205151006
database_cross_reference: SNOMEDCT_US_2015_03_01:253975004
database_cross_reference: SNOMEDCT_US_2015_03_01:268252004
database_cross_reference: SNOMEDCT_US_2015_03_01:373413006
database_cross_reference: SNOMEDCT_US_2015_03_01:75352001
database_cross_reference: UMLS_CUI:C0039075
comment: Xref MGI.
has_exact_synonym: chromosome 2q35 duplication syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: symphalangism
has_exact_synonym: symphalangy (disorder)
has_exact_synonym: webbing of digits
in_subset: DO MGI slim

Axiom
annotated target: A synostosis that results_in the fusion of two or more digits.
database_cross_reference: url:http://emedicine.medscape.com/article/1244420-overview
database_cross_reference: url:http://en.wikipedia.org/wiki/Syndactyly
database_cross_reference: url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm
database_cross_reference: url:http://www.wheelessonline.com/ortho/syndactyly
annotated source: syndactyly
annotated property: definition

Axiom
database_cross_reference: OMIM:185900
annotated target: chromosome 2q35 duplication syndrome
annotated source: syndactyly
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:755.1
annotated target: webbing of digits
annotated source: syndactyly
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:75352001
annotated target: symphalangy (disorder)
annotated source: syndactyly
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:253975004
annotated target: symphalangism
annotated source: syndactyly
annotated property: has_exact_synonym

acute laryngopharyngitis
type: Class
subclass of: DOID 974
definition: An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
id: DOID:11195
database_cross_reference: ICD10CM:J06.0
database_cross_reference: ICD9CM:465.0
database_cross_reference: SNOMEDCT_US_2015_03_01:55355000
database_cross_reference: UMLS_CUI:C0155817
has_exact_synonym: acute laryngopharyngitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:55355000
annotated target: acute laryngopharyngitis (disorder)
annotated source: acute laryngopharyngitis
annotated property: has_exact_synonym

Axiom
annotated target: An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
annotated source: acute laryngopharyngitis
annotated property: definition

serous conjunctivitis except viral
type: Class
subclass of: acute conjunctivitis
id: DOID:11197
database_cross_reference: ICD10CM:H10.23
database_cross_reference: ICD9CM:372.01
database_cross_reference: SNOMEDCT_US_2015_03_01:9824006
database_cross_reference: UMLS_CUI:C0155142
has_obo_namespace: disease_ontology
has_exact_synonym: serous conjunctivitis, except viral (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:9824006
annotated target: serous conjunctivitis, except viral (disorder)
annotated source: serous conjunctivitis except viral
annotated property: has_exact_synonym

DiGeorge syndrome
type: Class
subclass of: T cell deficiency
subclass of: DOID 225
definition: A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
id: DOID:11198
has_exact_synonym: DiGeorge sequence (disorder)
has_exact_synonym: DiGeorge's syndrome
database_cross_reference: ICD10CM:D82.1
database_cross_reference: ICD9CM:279.11
database_cross_reference: MSH:D004062
database_cross_reference: NCI:C2989
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:188400
has_exact_synonym: Pharyngeal pouch syndrome
database_cross_reference: SNOMEDCT_US_2015_03_01:190991007
database_cross_reference: SNOMEDCT_US_2015_03_01:77128003
database_cross_reference: UMLS_CUI:C0012236
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:279.11
annotated target: Pharyngeal pouch syndrome
annotated source: DiGeorge syndrome
annotated property: has_exact_synonym

Axiom
annotated target: DiGeorge's syndrome
database_cross_reference: NCI2004_11_17:C2989
annotated source: DiGeorge syndrome
annotated property: has_exact_synonym

Axiom
annotated target: A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
database_cross_reference: url:http://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome
annotated source: DiGeorge syndrome
annotated property: definition

Axiom
annotated target: DiGeorge sequence (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:77128003
annotated source: DiGeorge syndrome
annotated property: has_exact_synonym

hypoparathyroidism
type: Class
subclass of: parathyroid gland disease
definition: A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
id: DOID:11199
database_cross_reference: ICD10CM:E20
database_cross_reference: ICD10CM:E20.9
database_cross_reference: ICD9CM:252.1
database_cross_reference: MSH:D007011
database_cross_reference: NCI:C78350
database_cross_reference: OMIM:146200
database_cross_reference: OMIM:307700
database_cross_reference: ORDO:2238
database_cross_reference: SNOMEDCT_US_2015_03_01:154697005
database_cross_reference: SNOMEDCT_US_2015_03_01:190457001
database_cross_reference: SNOMEDCT_US_2015_03_01:267479004
database_cross_reference: SNOMEDCT_US_2015_03_01:36976004
database_cross_reference: UMLS_CUI:C0020626
comment: Xref MGI.
has_obo_namespace: disease_ontology
in_subset: DO MGI slim

Axiom
annotated target: A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypoparathyroidism
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=hypoparathyroidism
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956
annotated source: hypoparathyroidism
annotated property: definition

esophageal varix
type: Class
subclass of: DOID 866
has_exact_synonym: Bleeding esophageal varices
has_exact_synonym: Bleeding esophageal varices (disorder)
has_exact_synonym: Bleeding oesophageal varices
has_alternative_id: DOID:111
id: DOID:112
has_alternative_id: DOID:13536
has_alternative_id: DOID:14031
database_cross_reference: ICD10CM:I85.01
database_cross_reference: ICD9CM:456.0
database_cross_reference: ICD9CM:456.2
database_cross_reference: ICD9CM:456.20
database_cross_reference: NCI:C78282
database_cross_reference: SNOMEDCT_US_2015_03_01:17709002
database_cross_reference: SNOMEDCT_US_2015_03_01:195474004
database_cross_reference: SNOMEDCT_US_2015_03_01:195475003
database_cross_reference: SNOMEDCT_US_2015_03_01:195479009
database_cross_reference: SNOMEDCT_US_2015_03_01:195643006
database_cross_reference: SNOMEDCT_US_2015_03_01:236067006
database_cross_reference: UMLS_CUI:C0155789
database_cross_reference: UMLS_CUI:C0155791
database_cross_reference: UMLS_CUI:C0155792
has_obo_namespace: disease_ontology
has_exact_synonym: esophageal varices
has_exact_synonym: esophageal varices in disease classified elsewhere, with bleeding
has_exact_synonym: esophageal varices with bleeding
has_exact_synonym: esophageal varices with bleeding in disease EC (disorder)
has_exact_synonym: esophageal varices without bleeding
has_exact_synonym: esophageal varices without bleeding (disorder)
has_exact_synonym: esophageal varices without mention of bleeding

Axiom
database_cross_reference: ICD9CM_2006:456.1
annotated target: esophageal varices without mention of bleeding
annotated source: esophageal varix
annotated property: has_exact_synonym

Axiom
annotated target: Bleeding oesophageal varices
database_cross_reference: SNOMEDCT_2005_07_31:236067006
annotated source: esophageal varix
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:456.20
annotated target: esophageal varices in disease classified elsewhere, with bleeding
annotated source: esophageal varix
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:195475003
annotated target: esophageal varices with bleeding in disease EC (disorder)
annotated source: esophageal varix
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:14223005
annotated target: esophageal varices without bleeding (disorder)
annotated source: esophageal varix
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:456.0
annotated target: esophageal varices with bleeding
annotated source: esophageal varix
annotated property: has_exact_synonym

Axiom
annotated target: Bleeding esophageal varices (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:17709002
annotated source: esophageal varix
annotated property: has_exact_synonym

T cell deficiency
type: Class
subclass of: DOID 612
id: DOID:11200
database_cross_reference: NCI:C27872
database_cross_reference: UMLS_CUI:C1333147
has_obo_namespace: disease_ontology

parathyroid gland disease
type: Class
subclass of: DOID 28
definition: An endocrine system disease that is located_in the parathyroid gland.
id: DOID:11201
database_cross_reference: ICD10CM:E21.5
database_cross_reference: ICD9CM:252
database_cross_reference: ICD9CM:252.9
database_cross_reference: MSH:D010279
database_cross_reference: NCI:C26844
database_cross_reference: SNOMEDCT_US_2015_03_01:190462000
database_cross_reference: SNOMEDCT_US_2015_03_01:267478007
database_cross_reference: SNOMEDCT_US_2015_03_01:73132005
database_cross_reference: UMLS_CUI:C0030517
has_exact_synonym: disease of parathyroid glands
has_obo_namespace: disease_ontology

Axiom
annotated target: An endocrine system disease that is located_in the parathyroid gland.
database_cross_reference: url:http://en.wikipedia.org/wiki/Parathyroid_disease
annotated source: parathyroid gland disease
annotated property: definition

primary hyperparathyroidism
type: Class
subclass of: DOID_13543
id: DOID:11202
has_alternative_id: DOID:14790
database_cross_reference: ICD10CM:E21.0
database_cross_reference: ICD9CM:252.01
database_cross_reference: MSH:D049950
database_cross_reference: NCI:C48280
database_cross_reference: OMIM:600166
database_cross_reference: ORDO:99878
database_cross_reference: SNOMEDCT_US_2015_03_01:190452007
database_cross_reference: SNOMEDCT_US_2015_03_01:237653008
database_cross_reference: SNOMEDCT_US_2015_03_01:36348003
database_cross_reference: SNOMEDCT_US_2015_03_01:54920000
database_cross_reference: UMLS_CUI:C0221002
database_cross_reference: UMLS_CUI:C0271846
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: familial benign hypercalcemia (disorder)
has_exact_synonym: familial primary hyperparathyroidism
has_exact_synonym: primary hyperparathyroidism (disorder)
in_subset: DO MGI slim

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:190868007
annotated target: familial benign hypercalcemia (disorder)
annotated source: primary hyperparathyroidism
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:36348003
annotated target: primary hyperparathyroidism (disorder)
annotated source: primary hyperparathyroidism
annotated property: has_exact_synonym

Angelucci's syndrome
type: Class
subclass of: allergic conjunctivitis
has_exact_synonym: Angelucci syndrome
id: DOID:11203
database_cross_reference: ICD10CM:H10.1
database_cross_reference: ICD9CM:372.05
database_cross_reference: NCI:C34353
database_cross_reference: SNOMEDCT_US_2015_03_01:193863004
database_cross_reference: SNOMEDCT_US_2015_03_01:67678004
database_cross_reference: UMLS_CUI:C0001309
has_exact_synonym: acute Atopic Conjunctivitis
has_exact_synonym: acute atopic conjunctivitis
has_exact_synonym: acute atopic conjunctivitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:67678004
annotated target: acute atopic conjunctivitis (disorder)
annotated source: Angelucci's syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:372.05
annotated target: acute atopic conjunctivitis
annotated source: Angelucci's syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:193863004
annotated target: acute atopic conjunctivitis
annotated source: Angelucci's syndrome
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C34353
annotated target: acute Atopic Conjunctivitis
annotated source: Angelucci's syndrome
annotated property: has_exact_synonym

allergic conjunctivitis
type: Class
subclass of: DOID 2475
definition: A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
id: DOID:11204
database_cross_reference: MSH:D003233
database_cross_reference: NCI:C34506
database_cross_reference: SNOMEDCT_US_2015_03_01:155168003
database_cross_reference: SNOMEDCT_US_2015_03_01:193868008
database_cross_reference: SNOMEDCT_US_2015_03_01:20212001
database_cross_reference: SNOMEDCT_US_2015_03_01:231854006
database_cross_reference: SNOMEDCT_US_2015_03_01:473460002
database_cross_reference: UMLS_CUI:C0009766
has_obo_namespace: disease_ontology

Axiom
annotated target: A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
database_cross_reference: ls:IEDB
database_cross_reference: url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis
annotated source: allergic conjunctivitis
annotated property: definition

opioid abuse
type: Class
subclass of: DOID 302
definition: A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
id: DOID:11206
database_cross_reference: ICD10CM:F11.1
database_cross_reference: ICD9CM:305.5
database_cross_reference: SNOMEDCT_US_2015_03_01:5602001
database_cross_reference: UMLS_CUI:C0029095
has_obo_namespace: disease_ontology

Axiom
annotated target: A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
database_cross_reference: url:http://en.wikipedia.org/wiki/Opioid
annotated source: opioid abuse
annotated property: definition

buphthalmos
type: Class
subclass of: hydrophthalmos
id: DOID:11211
database_cross_reference: ICD9CM:743.21
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:231300
database_cross_reference: SNOMEDCT_US_2015_03_01:13832009
database_cross_reference: SNOMEDCT_US_2015_03_01:204116009
database_cross_reference: SNOMEDCT_US_2015_03_01:268157004
database_cross_reference: UMLS_CUI:C0311251
has_obo_namespace: disease_ontology
has_exact_synonym: simple buphthalmos

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:268157004
annotated target: simple buphthalmos
annotated source: buphthalmos
annotated property: has_exact_synonym

hydrophthalmos
type: Class
subclass of: primary congenital glaucoma
id: DOID:11212
database_cross_reference: ICD10CM:Q15.0
database_cross_reference: ICD9CM:743.2
database_cross_reference: ICD9CM:743.20
database_cross_reference: MSH:D006871
database_cross_reference: NCI:C50648
database_cross_reference: SNOMEDCT_US_2015_03_01:13832009
database_cross_reference: SNOMEDCT_US_2015_03_01:156898000
database_cross_reference: SNOMEDCT_US_2015_03_01:204111004
database_cross_reference: SNOMEDCT_US_2015_03_01:204112006
database_cross_reference: SNOMEDCT_US_2015_03_01:204113001
database_cross_reference: SNOMEDCT_US_2015_03_01:204114007
database_cross_reference: SNOMEDCT_US_2015_03_01:204115008
database_cross_reference: SNOMEDCT_US_2015_03_01:204121007
database_cross_reference: SNOMEDCT_US_2015_03_01:392368005
database_cross_reference: SNOMEDCT_US_2015_03_01:392371002
database_cross_reference: SNOMEDCT_US_2015_03_01:413728006
database_cross_reference: UMLS_CUI:C0020302
has_obo_namespace: disease_ontology

acute contagious conjunctivitis
type: Class
subclass of: acute conjunctivitis
has_exact_synonym: Contagious opthalmia
id: DOID:11213
database_cross_reference: NCI:C35704
has_exact_synonym: Pink eye
has_exact_synonym: Pinkeye
database_cross_reference: SNOMEDCT_US_2015_03_01:155162002
database_cross_reference: SNOMEDCT_US_2015_03_01:17482009
database_cross_reference: SNOMEDCT_US_2015_03_01:240066005
database_cross_reference: SNOMEDCT_US_2015_03_01:267734002
database_cross_reference: SNOMEDCT_US_2015_03_01:399047004
database_cross_reference: SNOMEDCT_US_2015_03_01:399219006
database_cross_reference: UMLS_CUI:C1313983
has_exact_synonym: acute contagious conjunctivitis (disorder)
has_obo_namespace: disease_ontology

Axiom
annotated target: Pink eye
database_cross_reference: SNOMEDCT_2005_07_31:267734002
annotated source: acute contagious conjunctivitis
annotated property: has_exact_synonym

Axiom
annotated target: Pinkeye
database_cross_reference: SNOMEDCT_2005_07_31:399219006
annotated source: acute contagious conjunctivitis
annotated property: has_exact_synonym

Axiom
annotated target: Contagious opthalmia
database_cross_reference: SNOMEDCT_2005_07_31:399047004
annotated source: acute contagious conjunctivitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:240066005
annotated target: acute contagious conjunctivitis (disorder)
annotated source: acute contagious conjunctivitis
annotated property: has_exact_synonym

Axiom
annotated target: Pink eye
database_cross_reference: SNOMEDCT_2005_07_31:155162002
annotated source: acute contagious conjunctivitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C35704
annotated target: Pinkeye
annotated source: acute contagious conjunctivitis
annotated property: has_exact_synonym

premature rupture of the fetal membranes
type: Class
id: DOID:11215
has_alternative_id: DOID:12565
has_alternative_id: DOID:14540
has_exact_synonym: Premature rupture of membranes - delivered (disorder)
has_exact_synonym: antepartum premature rupture of membranes
has_exact_synonym: delivered premature rupture of membranes
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Premature rupture of membranes - delivered (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:199658006
annotated source: premature rupture of the fetal membranes
annotated property: has_exact_synonym

chronic tympanitis
type: Class
subclass of: DOID 5782
id: DOID:11217
database_cross_reference: ICD10CM:H73.1
database_cross_reference: ICD10CM:H73.10
database_cross_reference: ICD9CM:384.1
database_cross_reference: SNOMEDCT_US_2015_03_01:89723004
database_cross_reference: UMLS_CUI:C0395849
has_exact_synonym: chronic myringitis without mention of otitis media
has_exact_synonym: chronic tympanitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: ICD9CM_2006:384.1
annotated target: chronic myringitis without mention of otitis media
annotated source: chronic tympanitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:89723004
annotated target: chronic tympanitis (disorder)
annotated source: chronic tympanitis
annotated property: has_exact_synonym

conjunctival folliculosis
type: Class
subclass of: acute conjunctivitis
id: DOID:11219
database_cross_reference: ICD10CM:H10.01
database_cross_reference: ICD9CM:372.02
database_cross_reference: SNOMEDCT_US_2015_03_01:41308008
database_cross_reference: UMLS_CUI:C0155143
has_exact_synonym: acute follicular conjunctivitis
has_exact_synonym: acute follicular conjunctivitis (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:41308008
annotated target: acute follicular conjunctivitis (disorder)
annotated source: conjunctival folliculosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:372.02
annotated target: acute follicular conjunctivitis
annotated source: conjunctival folliculosis
annotated property: has_exact_synonym

spinal enthesopathy
type: Class
id: DOID:1122
has_exact_synonym: Spinal enthesopathy (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:10317009
annotated target: Spinal enthesopathy (disorder)
annotated source: spinal enthesopathy
annotated property: has_exact_synonym

small intestine diverticulitis
type: Class
subclass of: DOID 7475
id: DOID:11223
has_alternative_id: DOID:11224
has_exact_synonym: Diverticulosis of small intestine with hemorrhage
database_cross_reference: ICD9CM:562.02
database_cross_reference: SNOMEDCT_US_2015_03_01:435061000124102
database_cross_reference: UMLS_CUI:C0156164
has_obo_namespace: disease_ontology

acute hemorrhagic conjunctivitis
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis.
has_exact_synonym: Apollo disease
id: DOID:11227
has_exact_synonym: Epidemic hemorrhagic conjunctivitis
database_cross_reference: ICD9CM:077.4
database_cross_reference: MSH:D003232
database_cross_reference: NCI:C34505
database_cross_reference: SNOMEDCT_US_2015_03_01:186677009
database_cross_reference: SNOMEDCT_US_2015_03_01:31502007
database_cross_reference: SNOMEDCT_US_2015_03_01:398264003
database_cross_reference: SNOMEDCT_US_2015_03_01:398273006
database_cross_reference: UMLS_CUI:C0009765
has_obo_namespace: disease_ontology
has_related_synonym: viral conjunctivitis

Axiom
annotated target: Epidemic hemorrhagic conjunctivitis
database_cross_reference: ICD9CM_2006:077.4
annotated source: acute hemorrhagic conjunctivitis
annotated property: has_exact_synonym

Axiom
annotated target: Apollo disease
database_cross_reference: MTHICD9_2006:077.4
annotated source: acute hemorrhagic conjunctivitis
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis.
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5328a2.htm
database_cross_reference: url:http://www.cdc.gov/ncidod/eid/vol5no2/maitreyi.htm
database_cross_reference: url:http://www.doh.state.fl.us/disease_ctrl/epi/htopics/reports/ahcpres.pdf
annotated source: acute hemorrhagic conjunctivitis
annotated property: definition

spondyloarthropathy
type: Class
subclass of: DOID 381
id: DOID:1123
database_cross_reference: MSH:D025242
database_cross_reference: OMIM:106300
database_cross_reference: SNOMEDCT_US_2015_03_01:357182002
database_cross_reference: SNOMEDCT_US_2015_03_01:359173000
database_cross_reference: SNOMEDCT_US_2015_03_01:372109003
database_cross_reference: SNOMEDCT_US_2015_03_01:8847002
database_cross_reference: UMLS_CUI:C0949691
has_obo_namespace: disease_ontology
has_exact_synonym: spondarthropathy
has_exact_synonym: spondylarthrosis

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:359173000
annotated target: spondarthropathy
annotated source: spondyloarthropathy
annotated property: has_exact_synonym

acute orbital inflammation
type: Class
subclass of: DOID 930
id: DOID:11230
database_cross_reference: ICD10CM:H05.0
database_cross_reference: ICD10CM:H05.00
database_cross_reference: ICD9CM:376.0
database_cross_reference: ICD9CM:376.00
database_cross_reference: SNOMEDCT_US_2015_03_01:194004003
database_cross_reference: SNOMEDCT_US_2015_03_01:194006001
database_cross_reference: SNOMEDCT_US_2015_03_01:20551005
database_cross_reference: UMLS_CUI:C0155256
has_exact_synonym: Unspecified acute orbit inflammation (disorder)
has_exact_synonym: acute inflammation of orbit
has_exact_synonym: acute inflammation of orbit (disorder)
has_exact_synonym: acute inflammation of orbit NOS (disorder)
has_exact_synonym: acute inflammation of orbit, unspecified
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194004003
annotated target: Unspecified acute orbit inflammation (disorder)
annotated source: acute orbital inflammation
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:376.00
annotated target: acute inflammation of orbit, unspecified
annotated source: acute orbital inflammation
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194006001
annotated target: acute inflammation of orbit NOS (disorder)
annotated source: acute orbital inflammation
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:20551005
annotated target: acute inflammation of orbit (disorder)
annotated source: acute orbital inflammation
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:376.0
annotated target: acute inflammation of orbit
annotated source: acute orbital inflammation
annotated property: has_exact_synonym

orbital periostitis
type: Class
subclass of: acute orbital inflammation
subclass of: DOID 9957
id: DOID:11231
database_cross_reference: ICD10CM:H05.03
database_cross_reference: ICD9CM:376.02
database_cross_reference: SNOMEDCT_US_2015_03_01:65974003
database_cross_reference: UMLS_CUI:C0155257
has_obo_namespace: disease_ontology
has_exact_synonym: orbital periostitis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:65974003
annotated target: orbital periostitis (disorder)
annotated source: orbital periostitis
annotated property: has_exact_synonym

orbital osteomyelitis
type: Class
subclass of: acute orbital inflammation
id: DOID:11232
database_cross_reference: ICD10CM:H05.02
database_cross_reference: ICD9CM:376.03
database_cross_reference: SNOMEDCT_US_2015_03_01:65875003
database_cross_reference: UMLS_CUI:C0155258
has_obo_namespace: disease_ontology
has_exact_synonym: orbital osteomyelitis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:65875003
annotated target: orbital osteomyelitis (disorder)
annotated source: orbital osteomyelitis
annotated property: has_exact_synonym

orbital tenonitis
type: Class
subclass of: acute orbital inflammation
id: DOID:11233
database_cross_reference: ICD9CM:376.04
database_cross_reference: SNOMEDCT_US_2015_03_01:8976003
has_exact_synonym: Tenonitis (disorder)
database_cross_reference: UMLS_CUI:C0155259
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:8976003
annotated target: Tenonitis (disorder)
annotated source: orbital tenonitis
annotated property: has_exact_synonym

orbital cellulitis
type: Class
subclass of: acute orbital inflammation
id: DOID:11234
database_cross_reference: ICD10CM:H05.01
database_cross_reference: ICD9CM:376.01
database_cross_reference: MSH:D054517
database_cross_reference: NCI:C99000
database_cross_reference: SNOMEDCT_US_2015_03_01:194005002
database_cross_reference: UMLS_CUI:C0149507
has_obo_namespace: disease_ontology
has_exact_synonym: orbital cellulitis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:194005002
annotated target: orbital cellulitis (disorder)
annotated source: orbital cellulitis
annotated property: has_exact_synonym

chronic adhesive otitis media
type: Class
subclass of: DOID 2742
id: DOID:11235
database_cross_reference: ICD10CM:H74.1
database_cross_reference: ICD9CM:385.1
database_cross_reference: ICD9CM:385.10
database_cross_reference: SNOMEDCT_US_2015_03_01:194330006
database_cross_reference: SNOMEDCT_US_2015_03_01:194331005
database_cross_reference: SNOMEDCT_US_2015_03_01:7699004
database_cross_reference: UMLS_CUI:C0155478
has_obo_namespace: disease_ontology

appendix cancer
type: Class
subclass of: intestinal cancer
definition: A intestinal cancer that is located_in the appendix.
id: DOID:11239
database_cross_reference: ICD10CM:C18.1
database_cross_reference: ICD9CM:153.5
database_cross_reference: MSH:D001063
database_cross_reference: NCI:C9333
database_cross_reference: SNOMEDCT_US_2015_03_01:363411007
database_cross_reference: SNOMEDCT_US_2015_03_01:93679002
database_cross_reference: UMLS_CUI:C0496779
has_exact_synonym: cancer of the appendix
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of appendix vermiformis
has_exact_synonym: malignant tumor of appendix (disorder)
has_exact_synonym: malignant tumor of the appendix
in_subset: TopNodes DOcancerslim

Axiom
annotated target: A intestinal cancer that is located_in the appendix.
database_cross_reference: url:http://en.wikipedia.org/wiki/Vermiform_appendix
annotated source: appendix cancer
annotated property: definition

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:363411007
annotated target: malignant tumor of appendix (disorder)
annotated source: appendix cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C9330
annotated target: cancer of the appendix
annotated source: appendix cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C9333
annotated target: malignant tumor of the appendix
annotated source: appendix cancer
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:153.5
annotated target: malignant neoplasm of appendix vermiformis
annotated source: appendix cancer
annotated property: has_exact_synonym

appendiceal neoplasm
type: Class
subclass of: DOID 4610
id: DOID:11240
database_cross_reference: MSH:D001063
database_cross_reference: NCI:C4434
database_cross_reference: SNOMEDCT_US_2015_03_01:126846004
database_cross_reference: UMLS_CUI:C0003614
has_exact_synonym: appendix neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: neoplasm of appendix (disorder)

Axiom
database_cross_reference: NCI2004_11_17:C4434
annotated target: appendix neoplasm
annotated source: appendiceal neoplasm
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:126846004
annotated target: neoplasm of appendix (disorder)
annotated source: appendiceal neoplasm
annotated property: has_exact_synonym

appendix lymphoma
type: Class
subclass of: lymphoma
subclass of: appendix cancer
has_exact_synonym: Appendiceal Lymphoma
id: DOID:11241
database_cross_reference: NCI:C5513
database_cross_reference: UMLS_CUI:C1332328
has_obo_namespace: disease_ontology

Axiom
annotated target: Appendiceal Lymphoma
database_cross_reference: NCI2004_11_17:C5513
annotated source: appendix lymphoma
annotated property: has_exact_synonym

plethora of newborn
type: Class
subclass of: DOID 8432
id: DOID:11242
database_cross_reference: ICD10CM:P61.1
database_cross_reference: ICD9CM:776.4
database_cross_reference: NCI:C27069
has_exact_synonym: Neonatal polycythemia (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:206518001
database_cross_reference: SNOMEDCT_US_2015_03_01:32984002
database_cross_reference: SNOMEDCT_US_2015_03_01:9170001
database_cross_reference: UMLS_CUI:C0272153
has_obo_namespace: disease_ontology

Axiom
annotated target: Neonatal polycythemia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:32984002
annotated source: plethora of newborn
annotated property: has_exact_synonym

anemia of prematurity
type: Class
subclass of: neonatal anemia
has_exact_synonym: Anemia of prematurity (disorder)
id: DOID:11243
database_cross_reference: ICD10CM:P61.2
database_cross_reference: ICD9CM:776.6
database_cross_reference: NCI:C97167
database_cross_reference: SNOMEDCT_US_2015_03_01:47100003
database_cross_reference: UMLS_CUI:C0158996
has_obo_namespace: disease_ontology

Axiom
annotated target: Anemia of prematurity (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:47100003
annotated source: anemia of prematurity
annotated property: has_exact_synonym

neonatal anemia
type: Class
subclass of: DOID 2355
has_exact_synonym: ANEMIA NEONATAL
id: DOID:11244
database_cross_reference: MSH:D000751
has_exact_synonym: Neonatal anemia (disorder)
has_exact_synonym: Neonatal anemia, NOS
database_cross_reference: SNOMEDCT_US_2015_03_01:111468003
database_cross_reference: SNOMEDCT_US_2015_03_01:234350007
database_cross_reference: SNOMEDCT_US_2015_03_01:276577009
database_cross_reference: SNOMEDCT_US_2015_03_01:33130007
database_cross_reference: UMLS_CUI:C0002891
has_obo_namespace: disease_ontology

Axiom
annotated target: Neonatal anemia, NOS
database_cross_reference: SNOMEDCT_2005_07_31:111468003
annotated source: neonatal anemia
annotated property: has_exact_synonym

Axiom
annotated target: Neonatal anemia, NOS
database_cross_reference: SNOMEDCT_2005_07_31:276577009
annotated source: neonatal anemia
annotated property: has_exact_synonym

Axiom
annotated target: ANEMIA NEONATAL
database_cross_reference: MTH:NOCODE
annotated source: neonatal anemia
annotated property: has_exact_synonym

Axiom
annotated target: Neonatal anemia, NOS
database_cross_reference: SNOMEDCT_2005_07_31:33130007
annotated source: neonatal anemia
annotated property: has_exact_synonym

Axiom
annotated target: Neonatal anemia (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:234350007
annotated source: neonatal anemia
annotated property: has_exact_synonym

transient neonatal neutropenia
type: Class
subclass of: DOID 1227
id: DOID:11245
database_cross_reference: ICD10CM:P61.5
database_cross_reference: ICD9CM:776.7
database_cross_reference: SNOMEDCT_US_2015_03_01:206520003
database_cross_reference: SNOMEDCT_US_2015_03_01:55444004
has_exact_synonym: Transient neonatal neutropenia (disorder)
has_exact_synonym: Transient neonatal neutropenia NOS (disorder)
database_cross_reference: UMLS_CUI:C0158997
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:206520003
annotated target: Transient neonatal neutropenia NOS (disorder)
annotated source: transient neonatal neutropenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:55444004
annotated target: Transient neonatal neutropenia (disorder)
annotated source: transient neonatal neutropenia
annotated property: has_exact_synonym

DIC in newborn
type: Class
subclass of: disseminated intravascular coagulation
id: DOID:11246
has_exact_synonym: Disseminated intravascular coagulation in newborn
has_exact_synonym: Disseminated intravascular coagulation in newborn (disorder)
database_cross_reference: ICD10CM:P60
database_cross_reference: ICD9CM:776.2
database_cross_reference: NCI:C111856
database_cross_reference: SNOMEDCT_US_2015_03_01:34417008
database_cross_reference: UMLS_CUI:C0158992
has_obo_namespace: disease_ontology

Axiom
annotated target: Disseminated intravascular coagulation in newborn (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:34417008
annotated source: DIC in newborn
annotated property: has_exact_synonym

Axiom
annotated target: Disseminated intravascular coagulation in newborn
database_cross_reference: ICD9CM_2006:776.2
annotated source: DIC in newborn
annotated property: has_exact_synonym

disseminated intravascular coagulation
type: Class
subclass of: DOID 2452
has_exact_synonym: DIC
id: DOID:11247
has_exact_synonym: Defibrination syndrome
has_exact_synonym: Diffuse or disseminated intravascular coagulation
database_cross_reference: ICD10CM:D65
database_cross_reference: ICD9CM:286.6
database_cross_reference: MSH:D004211
database_cross_reference: NCI:C2992
database_cross_reference: SNOMEDCT_US_2015_03_01:267563002
database_cross_reference: SNOMEDCT_US_2015_03_01:67406007
database_cross_reference: UMLS_CUI:C0012739
has_obo_namespace: disease_ontology

Axiom
annotated target: Defibrination syndrome
database_cross_reference: ICD9CM_2006:286.6
annotated source: disseminated intravascular coagulation
annotated property: has_exact_synonym

Axiom
annotated target: Diffuse or disseminated intravascular coagulation
database_cross_reference: MTHICD9_2006:286.6
annotated source: disseminated intravascular coagulation
annotated property: has_exact_synonym

Axiom
annotated target: DIC
database_cross_reference: NCI2004_11_17:C2992
annotated source: disseminated intravascular coagulation
annotated property: has_exact_synonym

hemorrhagic disease of newborn
type: Class
id: DOID:11248
has_exact_synonym: Hemorrhagic diathesis of newborn
has_exact_synonym: Hemorrhagic disease of newborn
has_exact_synonym: Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)
has_obo_namespace: disease_ontology
has_exact_synonym: hemorrhagic disease of newborn
deprecated: true

Axiom
database_cross_reference: CSP2005:0427-5157
annotated target: hemorrhagic disease of newborn
annotated source: hemorrhagic disease of newborn
annotated property: has_exact_synonym

Axiom
annotated target: Hemorrhagic disease of newborn
database_cross_reference: ICD9CM_2006:776.0
annotated source: hemorrhagic disease of newborn
annotated property: has_exact_synonym

Axiom
annotated target: Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:12546009
annotated source: hemorrhagic disease of newborn
annotated property: has_exact_synonym

Axiom
annotated target: Hemorrhagic diathesis of newborn
database_cross_reference: MTHICD9_2006:776.0
annotated source: hemorrhagic disease of newborn
annotated property: has_exact_synonym

vitamin K deficiency hemorrhagic disease
type: Class
subclass of: DOID 5113
id: DOID:11249
database_cross_reference: ICD10CM:E56.1
database_cross_reference: ICD9CM:269.0
database_cross_reference: MSH:D014813
database_cross_reference: SNOMEDCT_US_2015_03_01:124892003
database_cross_reference: SNOMEDCT_US_2015_03_01:52675005
database_cross_reference: UMLS_CUI:C0042880
has_exact_synonym: deficiency of vitamin K
has_exact_synonym: deficiency of vitamin K (disorder)
has_obo_namespace: disease_ontology
has_exact_synonym: vitamin K deficiency
has_exact_synonym: vitamin K deficiency (disorder)

Axiom
database_cross_reference: ICD9CM_2006:269.0
annotated target: deficiency of vitamin K
annotated source: vitamin K deficiency hemorrhagic disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2116-7764
annotated target: vitamin K deficiency
annotated source: vitamin K deficiency hemorrhagic disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:124892003
annotated target: deficiency of vitamin K (disorder)
annotated source: vitamin K deficiency hemorrhagic disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:52675005
annotated target: vitamin K deficiency (disorder)
annotated source: vitamin K deficiency hemorrhagic disease
annotated property: has_exact_synonym

microcytic anemia
type: Class
subclass of: DOID 2355
id: DOID:11252
database_cross_reference: MSH:C562385
database_cross_reference: NCI:C35141
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:206200
database_cross_reference: SNOMEDCT_US_2015_03_01:154787005
database_cross_reference: SNOMEDCT_US_2015_03_01:234349007
database_cross_reference: SNOMEDCT_US_2015_03_01:267553005
database_cross_reference: UMLS_CUI:C0085576
has_obo_namespace: disease_ontology

Brill-Zinsser disease
type: Class
subclass of: epidemic typhus
definition: An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
has_exact_synonym: Brill Zinsser disease
has_exact_synonym: Brill's disease
has_exact_synonym: Brill-Zinsser disease (disorder)
id: DOID:11254
database_cross_reference: ICD10CM:A75.1
database_cross_reference: ICD9CM:081.1
has_related_synonym: Latent typhus
database_cross_reference: MSH:D014438
has_exact_synonym: Recrudescent typhus
database_cross_reference: SNOMEDCT_US_2015_03_01:47761007
has_related_synonym: Sporadic typhus
database_cross_reference: UMLS_CUI:C0006181
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
database_cross_reference: MTHICD9_2006:081.1
annotated target: Recrudescent typhus
annotated source: Brill-Zinsser disease
annotated property: has_exact_synonym

Axiom
annotated target: Brill Zinsser disease
database_cross_reference: CSP2005:2623-8052
annotated source: Brill-Zinsser disease
annotated property: has_exact_synonym

Axiom
annotated target: Brill-Zinsser disease (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:47761007
annotated source: Brill-Zinsser disease
annotated property: has_exact_synonym

Axiom
annotated target: An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
database_cross_reference: url:http://en.wikipedia.org/wiki/Epidemic_typhus
annotated source: Brill-Zinsser disease
annotated property: definition

Axiom
annotated target: Brill's disease
database_cross_reference: ICD9CM_2006:081.1
annotated source: Brill-Zinsser disease
annotated property: has_exact_synonym

typhus
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites.
has_related_synonym: Classical typhus (fever)
has_alternative_id: DOID:11255
id: DOID:11256
has_alternative_id: DOID:12353
has_exact_synonym: Endemic Typhus fever
has_related_synonym: Epidemic (louse-borne) typhus
has_related_synonym: Epidemic louse-borne typhus fever due to Rickettsia prowazekii
has_related_synonym: European typhus
has_exact_synonym: Exanthematic Typhus fever NOS
has_related_synonym: Exanthematous typhus
has_related_synonym: Famine fever
has_exact_synonym: Flea typhus (disorder)
has_related_synonym: Flea-borne rickettsiosis
has_related_synonym: Flea-borne typhus
has_related_synonym: Hospital fever
database_cross_reference: ICD10CM:A75
database_cross_reference: ICD10CM:A75.0
database_cross_reference: ICD10CM:A75.2
database_cross_reference: ICD10CM:A75.9
database_cross_reference: ICD9CM:080
database_cross_reference: ICD9CM:081.0
database_cross_reference: ICD9CM:081.9
has_related_synonym: Jail fever
has_exact_synonym: Louse-borne [epidemic] typhus
has_related_synonym: Louse-borne rickettsiosis
has_related_synonym: Louse-borne typhus
database_cross_reference: MSH:D014437
database_cross_reference: MSH:D014438
has_related_synonym: Mexican typhus
has_related_synonym: Moscow typhus
has_exact_synonym: Murine [endemic] typhus
has_related_synonym: Murine typhus
database_cross_reference: NCI:C84688
database_cross_reference: NCI:C84689
has_related_synonym: Petechial fever
has_related_synonym: Prison fever
has_related_synonym: Rat flea typhus
database_cross_reference: SNOMEDCT_US_2015_03_01:154375001
database_cross_reference: SNOMEDCT_US_2015_03_01:187383009
database_cross_reference: SNOMEDCT_US_2015_03_01:25668000
database_cross_reference: SNOMEDCT_US_2015_03_01:266205000
database_cross_reference: SNOMEDCT_US_2015_03_01:39111003
database_cross_reference: SNOMEDCT_US_2015_03_01:414263007
database_cross_reference: SNOMEDCT_US_2015_03_01:83838002
has_related_synonym: Ship fever
has_related_synonym: Shop typhus
has_related_synonym: Typhus exanthematique
has_exact_synonym: Typhus fever (disorder)
database_cross_reference: UMLS_CUI:C0041471
database_cross_reference: UMLS_CUI:C0041472
database_cross_reference: UMLS_CUI:C0041473
has_related_synonym: Urban typhus
has_obo_namespace: disease_ontology
has_exact_synonym: endemic flea-borne typhus
has_exact_synonym: epidemic louse-borne typhus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: Endemic Typhus fever
database_cross_reference: MTHICD9_2006:081.0
annotated source: typhus
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:081.0
annotated target: Murine [endemic] typhus
annotated source: typhus
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:187383009
annotated target: Typhus fever (disorder)
annotated source: typhus
annotated property: has_exact_synonym

Axiom
annotated target: A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites.
database_cross_reference: url:http://emedicine.medscape.com/article/231374-overview#a0104
annotated source: typhus
annotated property: definition

Axiom
annotated target: Flea typhus (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:414263007
annotated source: typhus
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:080
annotated target: Louse-borne [epidemic] typhus
annotated source: typhus
annotated property: has_exact_synonym

Axiom
annotated target: Exanthematic Typhus fever NOS
database_cross_reference: MTHICD9_2006:080
annotated source: typhus
annotated property: has_exact_synonym

social phobia
type: Class
subclass of: DOID 591
definition: A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
id: DOID:11257
database_cross_reference: ICD10CM:F40.1
database_cross_reference: ICD10CM:F40.10
database_cross_reference: ICD9CM:300.23
database_cross_reference: MSH:D010698
database_cross_reference: NCI:C34927
database_cross_reference: SNOMEDCT_US_2015_03_01:191720001
database_cross_reference: SNOMEDCT_US_2015_03_01:192395002
database_cross_reference: SNOMEDCT_US_2015_03_01:25501002
database_cross_reference: UMLS_CUI:C0031572
has_obo_namespace: disease_ontology

Axiom
annotated target: A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
database_cross_reference: url:http://en.wikipedia.org/wiki/Social_phobia
annotated source: social phobia
annotated property: definition

cat-scratch disease
type: Class
subclass of: bartonellosis
definition: A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
id: DOID:11258
has_exact_synonym: Debre's Syndrome
has_exact_synonym: Debre-Mollaret Syndrome
has_exact_synonym: Foshay-Mollaret Cat Scratch Fever
database_cross_reference: ICD10CM:A28.1
database_cross_reference: ICD9CM:078.3
database_cross_reference: MSH:D002372
database_cross_reference: NCI:C84620
database_cross_reference: SNOMEDCT_US_2015_03_01:123319006
database_cross_reference: SNOMEDCT_US_2015_03_01:154370006
database_cross_reference: SNOMEDCT_US_2015_03_01:266202002
database_cross_reference: SNOMEDCT_US_2015_03_01:79974007
database_cross_reference: UMLS_CUI:C0007361
has_exact_synonym: benign lymphoreticulosis
has_exact_synonym: cat scratch fever
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cat_scratch_disease
database_cross_reference: url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#
annotated source: cat-scratch disease
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:078.3
annotated target: benign lymphoreticulosis
annotated source: cat-scratch disease
annotated property: has_exact_synonym

Cytomegalovirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.
has_exact_synonym: Cytomagalovirus infection
has_exact_synonym: Cytomegaloviral disease
has_exact_synonym: Cytomegaloviral disease, unspecified
has_exact_synonym: Cytomegaloviral disease, unspecified (disorder)
has_exact_synonym: Cytomegalovirus infection (disorder)
id: DOID:11259
has_exact_synonym: Salivary gland virus disease
has_exact_synonym: cytomegalovirus infection
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:186695007
annotated target: Salivary gland virus disease
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Cytomagalovirus infection
database_cross_reference: SNOMEDCT_2005_07_31:266203007
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:3099-9294
annotated target: cytomegalovirus infection
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.
database_cross_reference: url:http://en.wikipedia.org/wiki/Cytomegalovirus
annotated source: Cytomegalovirus infectious disease
annotated property: definition

Axiom
database_cross_reference: MTHICD9_2006:078.5
annotated target: Salivary gland virus disease
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Cytomegalovirus infection (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:28944009
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Cytomegaloviral disease, unspecified
database_cross_reference: SNOMEDCT_2005_07_31:186699001
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Cytomegaloviral disease
database_cross_reference: ICD9CM_2006:078.5
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: Cytomegaloviral disease, unspecified (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187456009
annotated source: Cytomegalovirus infectious disease
annotated property: has_exact_synonym

rabies
type: Class
subclass of: DOID 934
definition: A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis.
id: DOID:11260
database_cross_reference: ICD10CM:A82
database_cross_reference: ICD10CM:A82.9
database_cross_reference: ICD9CM:071
has_exact_synonym: Lyssa
database_cross_reference: MSH:D011818
database_cross_reference: NCI:C28182
database_cross_reference: SNOMEDCT_US_2015_03_01:14168008
database_cross_reference: SNOMEDCT_US_2015_03_01:186644005
database_cross_reference: SNOMEDCT_US_2015_03_01:187393002
database_cross_reference: SNOMEDCT_US_2015_03_01:275370001
database_cross_reference: UMLS_CUI:C0034494
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: Lyssa
database_cross_reference: MTHICD9_2006:071
annotated source: rabies
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Rabies
database_cross_reference: url:http://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx
annotated source: rabies
annotated property: definition

foot and mouth disease
type: Class
definition: A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.
id: DOID:11261
has_exact_synonym: Epizootic stomatitis
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.
database_cross_reference: url:http://www.aphis.usda.gov/publications/animal_health/content/printable_version/fs_foot_mouth_disease07.pdf
annotated source: foot and mouth disease
annotated property: definition

Axiom
annotated target: Epizootic stomatitis
database_cross_reference: MTHICD9_2006:078.4
annotated source: foot and mouth disease
annotated property: has_exact_synonym

ornithosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
id: DOID:11262
database_cross_reference: ICD10CM:A70
database_cross_reference: ICD9CM:073
database_cross_reference: ICD9CM:073.9
database_cross_reference: MSH:D009956
database_cross_reference: NCI:C34873
database_cross_reference: SNOMEDCT_US_2015_03_01:154367007
database_cross_reference: SNOMEDCT_US_2015_03_01:154369005
database_cross_reference: SNOMEDCT_US_2015_03_01:186653003
database_cross_reference: SNOMEDCT_US_2015_03_01:186657002
database_cross_reference: SNOMEDCT_US_2015_03_01:266200005
database_cross_reference: SNOMEDCT_US_2015_03_01:75116005
database_cross_reference: UMLS_CUI:C0029291
has_obo_namespace: disease_ontology
has_exact_synonym: psittacosis
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease

Axiom
annotated target: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
database_cross_reference: url:http://en.wikipedia.org/wiki/Psittacosis
database_cross_reference: url:http://www.nyc.gov/html/doh/html/cd/cdpsit.shtml
annotated source: ornithosis
annotated property: definition

Chlamydia trachomatis infectious disease
type: Class
definition: A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.
has_exact_synonym: Chlamydial Infection
id: DOID:11263
has_exact_synonym: chlamydial disease
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: Chlamydial Infection
database_cross_reference: NCI2004_11_17:C34463
annotated source: Chlamydia trachomatis infectious disease
annotated property: has_exact_synonym

Axiom
annotated target: A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Chlamydia_infection
annotated source: Chlamydia trachomatis infectious disease
annotated property: definition

Axiom
database_cross_reference: CSP2005:0638-2797
annotated target: chlamydial disease
annotated source: Chlamydia trachomatis infectious disease
annotated property: has_exact_synonym

Chlamydophila infectious disease
type: Class
id: DOID:11264
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease

trachoma
type: Class
subclass of: commensal bacterial infectious disease
definition: A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
id: DOID:11265
has_alternative_id: DOID:13013
has_alternative_id: DOID:13264
database_cross_reference: ICD10CM:A71
database_cross_reference: ICD10CM:A71.0
database_cross_reference: ICD10CM:A71.1
database_cross_reference: ICD10CM:A71.9
database_cross_reference: ICD9CM:076
database_cross_reference: ICD9CM:076.0
database_cross_reference: ICD9CM:076.1
database_cross_reference: ICD9CM:076.9
database_cross_reference: MSH:D014141
database_cross_reference: SNOMEDCT_US_2015_03_01:154367007
database_cross_reference: SNOMEDCT_US_2015_03_01:186671005
database_cross_reference: SNOMEDCT_US_2015_03_01:186672003
database_cross_reference: SNOMEDCT_US_2015_03_01:187379009
database_cross_reference: SNOMEDCT_US_2015_03_01:2576002
database_cross_reference: SNOMEDCT_US_2015_03_01:266200005
database_cross_reference: SNOMEDCT_US_2015_03_01:29976007
database_cross_reference: SNOMEDCT_US_2015_03_01:52812002
database_cross_reference: UMLS_CUI:C0040592
database_cross_reference: UMLS_CUI:C0153107
database_cross_reference: UMLS_CUI:C0153108
has_exact_synonym: active stage trachoma
has_obo_namespace: disease_ontology
has_exact_synonym: trachoma dubium
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
database_cross_reference: url:http://en.wikipedia.org/wiki/Trachoma
database_cross_reference: url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm
database_cross_reference: url:http://www.who.int/blindness/causes/priority/en/index2.html
annotated source: trachoma
annotated property: definition

hemorrhagic fever with renal syndrome
type: Class
subclass of: DOID 37
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
id: DOID:11266
has_exact_synonym: HFRS
has_exact_synonym: Hemorrhagic fever, Russian
has_exact_synonym: Hemorrhagic nephrosonephritis
database_cross_reference: ICD10CM:A98.5
database_cross_reference: ICD9CM:078.6
database_cross_reference: MSH:D006480
database_cross_reference: NCI:C84753
has_exact_synonym: Puumala virus nephropathy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:102455002
database_cross_reference: SNOMEDCT_US_2015_03_01:186701001
database_cross_reference: SNOMEDCT_US_2015_03_01:364756009
database_cross_reference: SNOMEDCT_US_2015_03_01:70826003
database_cross_reference: UMLS_CUI:C0019101
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease

Axiom
annotated target: Puumala virus nephropathy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:364756009
annotated source: hemorrhagic fever with renal syndrome
annotated property: has_exact_synonym

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
database_cross_reference: url:http://emedicine.medscape.com/article/982142-overview
database_cross_reference: url:http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm
annotated source: hemorrhagic fever with renal syndrome
annotated property: definition

Axiom
annotated target: Hemorrhagic fever, Russian
database_cross_reference: MTHICD9_2006:078.6
annotated source: hemorrhagic fever with renal syndrome
annotated property: has_exact_synonym

Axiom
annotated target: Hemorrhagic nephrosonephritis
database_cross_reference: ICD9CM_2006:078.6
annotated source: hemorrhagic fever with renal syndrome
annotated property: has_exact_synonym

keratomalacia
type: Class
subclass of: DOID 1237
id: DOID:11267
database_cross_reference: ICD10CM:H18.44
database_cross_reference: ICD9CM:371.45
database_cross_reference: MSH:C536156
database_cross_reference: SNOMEDCT_US_2015_03_01:193827004
database_cross_reference: SNOMEDCT_US_2015_03_01:85149007
database_cross_reference: UMLS_CUI:C0152455
has_obo_namespace: disease_ontology

vitamin A deficiency with keratomalacia
type: Class
id: DOID:11268
has_obo_namespace: disease_ontology
deprecated: true
has_exact_synonym: vitamin A deficiency with keratomalacia (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:42639000
annotated target: vitamin A deficiency with keratomalacia (disorder)
annotated source: vitamin A deficiency with keratomalacia
annotated property: has_exact_synonym

chronic apical periodontitis
type: Class
subclass of: DOID 823
id: DOID:11269
database_cross_reference: ICD10CM:K04.5
database_cross_reference: ICD9CM:522.6
database_cross_reference: SNOMEDCT_US_2015_03_01:196343008
database_cross_reference: SNOMEDCT_US_2015_03_01:196345001
database_cross_reference: SNOMEDCT_US_2015_03_01:87782002
database_cross_reference: UMLS_CUI:C0392492
has_exact_synonym: chronic apical periodontitis (disorder)
has_exact_synonym: chronic apical periodontitis NOS (disorder)
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:196345001
annotated target: chronic apical periodontitis NOS (disorder)
annotated source: chronic apical periodontitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:87782002
annotated target: chronic apical periodontitis (disorder)
annotated source: chronic apical periodontitis
annotated property: has_exact_synonym

hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium
type: Class
has_alternative_id: DOID:11270
id: DOID:11271
has_alternative_id: DOID:14011
has_alternative_id: DOID:14012
has_obo_namespace: disease_ontology
has_exact_synonym: hypertension secondary to renal disease, antepartum
has_exact_synonym: hypertension secondary to renal disease, postpartum
has_exact_synonym: hypertension secondary to renal disease, with delivery
deprecated: true

muscle syphilis
type: Class
id: DOID:11275
has_exact_synonym: Syphilis of muscle (disorder)
has_obo_namespace: disease_ontology
deprecated: true
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:88943008
annotated target: Syphilis of muscle (disorder)
annotated source: muscle syphilis
annotated property: has_exact_synonym

Plummer's disease
type: Class
subclass of: DOID 7998
id: DOID:11277
database_cross_reference: ICD10CM:E05.2
database_cross_reference: ICD9CM:242.3
database_cross_reference: NCI:C35171
has_exact_synonym: Plummer disease
database_cross_reference: SNOMEDCT_US_2015_03_01:190250001
database_cross_reference: SNOMEDCT_US_2015_03_01:190254005
database_cross_reference: SNOMEDCT_US_2015_03_01:57777000
has_exact_synonym: Toxic nodular Goiter
has_exact_synonym: Toxic nodular goiter (disorder)
has_exact_synonym: Toxic nodular goiter NOS (disorder)
has_exact_synonym: Toxic nodular goiter unspecified (disorder)
database_cross_reference: UMLS_CUI:C0342127
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:190254005
annotated target: Toxic nodular goiter NOS (disorder)
annotated source: Plummer's disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:57777000
annotated target: Toxic nodular goiter (disorder)
annotated source: Plummer's disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:190250001
annotated target: Toxic nodular goiter unspecified (disorder)
annotated source: Plummer's disease
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C35171
annotated target: Toxic nodular Goiter
annotated source: Plummer's disease
annotated property: has_exact_synonym

solar retinopathy
type: Class
subclass of: chorioretinal scar
id: DOID:11282
database_cross_reference: ICD10CM:H31.02
database_cross_reference: ICD9CM:363.31
database_cross_reference: SNOMEDCT_US_2015_03_01:1135000
has_exact_synonym: Solar retinitis
database_cross_reference: UMLS_CUI:C0152131
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:1135000
annotated target: Solar retinitis
annotated source: solar retinopathy
annotated property: has_exact_synonym

peripheral scars of retina
type: Class
subclass of: chorioretinal scar
id: DOID:11283
database_cross_reference: ICD9CM:363.34
database_cross_reference: UMLS_CUI:C0154888
has_obo_namespace: disease_ontology

disseminated scars of retina
type: Class
id: DOID:11284
has_obo_namespace: disease_ontology
deprecated: true

tick paralysis
type: Class
subclass of: DOID 4109
definition: A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage.
id: DOID:11285
database_cross_reference: MSH:D013985
database_cross_reference: SNOMEDCT_US_2015_03_01:74225001
has_exact_synonym: Tick paralysis
has_exact_synonym: Tick paralysis (disorder)
database_cross_reference: UMLS_CUI:C0040197
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:74225001
annotated target: Tick paralysis (disorder)
annotated source: tick paralysis
annotated property: has_exact_synonym

Axiom
database_cross_reference: MTHICD9_2006:989.5
annotated target: Tick paralysis
annotated source: tick paralysis
annotated property: has_exact_synonym

Axiom
annotated target: A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage.
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm
database_cross_reference: url:http://www.journals.uchicago.edu/doi/pdf/10.1086/313502
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/10428629
annotated source: tick paralysis
annotated property: definition

neuromuscular junction toxic disorder
type: Class
id: DOID:11286
has_exact_synonym: Toxic myoneural disorder
has_exact_synonym: Toxic myoneural junction disorder
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: ICD9CM_2006:358.2
annotated target: Toxic myoneural disorder
annotated source: neuromuscular junction toxic disorder
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:17940001
annotated target: Toxic myoneural junction disorder
annotated source: neuromuscular junction toxic disorder
annotated property: has_exact_synonym

conditions involving the integument and temperature regulation of fetus and newborn
type: Class
id: DOID:11287
has_obo_namespace: disease_ontology
deprecated: true

ventilation pneumonitis
type: Class
subclass of: DOID 841
has_exact_synonym: Air-conditioner and humidifier lung (disorder)
definition: An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
id: DOID:11289
has_exact_synonym: Humidifier lung (disorder)
database_cross_reference: ICD10CM:J67.7
database_cross_reference: ICD9CM:495.7
database_cross_reference: SNOMEDCT_US_2015_03_01:195990006
database_cross_reference: SNOMEDCT_US_2015_03_01:48347002
database_cross_reference: UMLS_CUI:C0155891
has_obo_namespace: disease_ontology

Axiom
annotated target: An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
database_cross_reference: url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf
annotated source: ventilation pneumonitis
annotated property: definition

Axiom
annotated target: Humidifier lung (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:48347002
annotated source: ventilation pneumonitis
annotated property: has_exact_synonym

Axiom
annotated target: Air-conditioner and humidifier lung (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:195990006
annotated source: ventilation pneumonitis
annotated property: has_exact_synonym

pituitary apoplexy
type: Class
subclass of: pituitary infarct
id: DOID:1129
database_cross_reference: MSH:D010899
database_cross_reference: NCI:C26853
has_exact_synonym: Pituitary apoplexy (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:237701005
database_cross_reference: UMLS_CUI:C0032001
has_obo_namespace: disease_ontology

Axiom
annotated target: Pituitary apoplexy (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:237701005
annotated source: pituitary apoplexy
annotated property: has_exact_synonym

arteriovenous malformation
type: Class
subclass of: DOID 255
definition: An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
has_exact_synonym: Arteriovenous hemangioma (disorder)
database_cross_reference: CSP:0571-2717
has_exact_synonym: Cirsoid aneurysm
id: DOID:11294
database_cross_reference: HP:0100026
database_cross_reference: ICD10CM:I77.0
database_cross_reference: NCI:C4297
has_exact_synonym: Racemose Angioma
has_exact_synonym: Racemose aneurysm (morphologic abnormality)
has_exact_synonym: Racemose hemangioma (morphologic abnormality)
database_cross_reference: SNOMEDCT_US_2015_03_01:11071001
database_cross_reference: SNOMEDCT_US_2015_03_01:14156004
database_cross_reference: SNOMEDCT_US_2015_03_01:204480002
database_cross_reference: SNOMEDCT_US_2015_03_01:233982006
database_cross_reference: SNOMEDCT_US_2015_03_01:403966009
database_cross_reference: UMLS_CUI:C0334533
has_obo_namespace: disease_ontology

Axiom
annotated target: Cirsoid aneurysm
database_cross_reference: SNOMEDCT_2005_07_31:204480002
annotated source: arteriovenous malformation
annotated property: has_exact_synonym

Axiom
annotated target: An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
database_cross_reference: HP:0100026
database_cross_reference: url:http://en.wikipedia.org/wiki/Arteriovenous_malformation
annotated source: arteriovenous malformation
annotated property: definition

Axiom
annotated target: Arteriovenous hemangioma (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:403966009
annotated source: arteriovenous malformation
annotated property: has_exact_synonym

Axiom
annotated target: Racemose hemangioma (morphologic abnormality)
database_cross_reference: SNOMEDCT_2005_07_31:11071001
annotated source: arteriovenous malformation
annotated property: has_exact_synonym

Axiom
annotated target: Racemose aneurysm (morphologic abnormality)
database_cross_reference: SNOMEDCT_2005_07_31:14156004
annotated source: arteriovenous malformation
annotated property: has_exact_synonym

Axiom
database_cross_reference: NCI2004_11_17:C4297
annotated target: Racemose Angioma
annotated source: arteriovenous malformation
annotated property: has_exact_synonym

retinal microaneurysm
type: Class
subclass of: DOID 2462
id: DOID:11295
database_cross_reference: ICD9CM:362.14
has_exact_synonym: Retinal microaneurysm (disorder)
has_exact_synonym: Retinal microaneurysms NOS
has_exact_synonym: Retinal microaneurysms NOS (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:193363005
database_cross_reference: SNOMEDCT_US_2015_03_01:34037000
database_cross_reference: UMLS_CUI:C0154834
has_obo_namespace: disease_ontology

Axiom
annotated target: Retinal microaneurysms NOS (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:193363005
annotated source: retinal microaneurysm
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:362.14
annotated target: Retinal microaneurysms NOS
annotated source: retinal microaneurysm
annotated property: has_exact_synonym

Axiom
annotated target: Retinal microaneurysm (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:34037000
annotated source: retinal microaneurysm
annotated property: has_exact_synonym

vertebral artery occlusion
type: Class
subclass of: DOID 5976
id: DOID:11299
database_cross_reference: ICD10CM:I65.0
database_cross_reference: ICD9CM:433.2
has_exact_synonym: Occlusion and stenosis of vertebral artery
database_cross_reference: UMLS_CUI:C0155724
has_obo_namespace: disease_ontology

pneumopericardium
type: Class
id: DOID:113
has_obo_namespace: disease_ontology
deprecated: true

pituitary infarct
type: Class
subclass of: DOID 3646
id: DOID:1130
database_cross_reference: NCI:C27117
has_exact_synonym: Pituitary infarction
has_exact_synonym: Pituitary infarction (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:95830009
database_cross_reference: UMLS_CUI:C0342405
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: NCI2004_11_17:C27117
annotated target: Pituitary infarction
annotated source: pituitary infarct
annotated property: has_exact_synonym

Axiom
annotated target: Pituitary infarction (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:95830009
annotated source: pituitary infarct
annotated property: has_exact_synonym

cercarial dermatitis
type: Class
subclass of: DOID 1395
definition: A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection.
has_exact_synonym: Cutaneous schistosomiasis
id: DOID:11302
database_cross_reference: ICD10CM:B65.3
database_cross_reference: ICD9CM:120.3
database_cross_reference: NCI:C34457
database_cross_reference: SNOMEDCT_US_2015_03_01:187115002
database_cross_reference: SNOMEDCT_US_2015_03_01:238534006
database_cross_reference: SNOMEDCT_US_2015_03_01:86711009
has_exact_synonym: Sea bather's eruption (disorder)
database_cross_reference: UMLS_CUI:C0546996
has_obo_namespace: disease_ontology

Axiom
annotated target: A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection.
database_cross_reference: url:http://www.cdc.gov/parasites/swimmersitch/
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/CercarialDermatitis.htm
annotated source: cercarial dermatitis
annotated property: definition

Axiom
annotated target: Cutaneous schistosomiasis
database_cross_reference: ICD9CM_2006:120.3
annotated source: cercarial dermatitis
annotated property: has_exact_synonym

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:238534006
annotated target: Sea bather's eruption (disorder)
annotated source: cercarial dermatitis
annotated property: has_exact_synonym

subchronic state latent schizophrenia with acute exacerbation
type: Class
id: DOID:11307
has_obo_namespace: disease_ontology
deprecated: true

latent schizophrenia in remission
type: Class
id: DOID:11308
has_exact_synonym: Latent schizophrenia in remission (disorder)
has_exact_synonym: Latent schizophrenia, in remission
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Latent schizophrenia in remission (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:191565008
annotated source: latent schizophrenia in remission
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:295.55
annotated target: Latent schizophrenia, in remission
annotated source: latent schizophrenia in remission
annotated property: has_exact_synonym

chronic latent schizophrenia
type: Class
id: DOID:11309
has_exact_synonym: Latent chronic Schizophrenia
has_exact_synonym: Latent schizophrenia, chronic state
has_exact_synonym: chronic latent schizophrenia (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:191562006
annotated target: chronic latent schizophrenia (disorder)
annotated source: chronic latent schizophrenia
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:295.52
annotated target: Latent schizophrenia, chronic state
annotated source: chronic latent schizophrenia
annotated property: has_exact_synonym

Axiom
annotated target: Latent chronic Schizophrenia
database_cross_reference: NCI2004_11_17:C35182
annotated source: chronic latent schizophrenia
annotated property: has_exact_synonym

Mobitz type II atrioventricular block
type: Class
subclass of: second-degree atrioventricular block
id: DOID:11312
database_cross_reference: ICD9CM:426.12
has_exact_synonym: Mobitz (type) II atrioventricular block
has_exact_synonym: Mobitz II atrioventricular block
has_exact_synonym: Mobitz type II atrioventricular block (disorder)
database_cross_reference: NCI:C62018
database_cross_reference: SNOMEDCT_US_2015_03_01:28189009
database_cross_reference: UMLS_CUI:C0155700
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: MTHICD9_2006:426.12
annotated target: Mobitz II atrioventricular block
annotated source: Mobitz type II atrioventricular block
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:426.12
annotated target: Mobitz (type) II atrioventricular block
annotated source: Mobitz type II atrioventricular block
annotated property: has_exact_synonym

Axiom
annotated target: Mobitz type II atrioventricular block (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:28189009
annotated source: Mobitz type II atrioventricular block
annotated property: has_exact_synonym

Histoplasma duboisii retinitis
type: Class
definition: An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions.
id: DOID:11314
has_exact_synonym: Histoplasma duboisii with retinitis (disorder)
has_obo_namespace: disease_ontology
deprecated: true

Axiom
annotated target: Histoplasma duboisii with retinitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187049007
annotated source: Histoplasma duboisii retinitis
annotated property: has_exact_synonym

Axiom
annotated target: An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed/1945308
annotated source: Histoplasma duboisii retinitis
annotated property: definition

African histoplasmosis
type: Class
subclass of: DOID 1731
definition: A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions.
id: DOID:11315
database_cross_reference: ICD9CM:115.10
database_cross_reference: UMLS_CUI:C0153270
has_obo_namespace: disease_ontology

Axiom
annotated target: A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions.
database_cross_reference: url:http://www.cdc.gov/eid/content/13/11/1647.htm
annotated source: African histoplasmosis
annotated property: definition

histoplasmosis retinitis
type: Class
subclass of: DOID 3612
id: DOID:11316
has_exact_synonym: Histoplasmosis with retinitis (disorder)
database_cross_reference: ICD9CM:115.92
database_cross_reference: SNOMEDCT_US_2015_03_01:187058000
database_cross_reference: UMLS_CUI:C0153278
has_obo_namespace: disease_ontology

Axiom
annotated target: Histoplasmosis with retinitis (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:187058000
annotated source: histoplasmosis retinitis
annotated property: has_exact_synonym

Kyasanur forest disease
type: Class
subclass of: DOID 934
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems.
id: DOID:11320
database_cross_reference: ICD10CM:A98.2
database_cross_reference: ICD9CM:065.2
database_cross_reference: MSH:D007733
database_cross_reference: SNOMEDCT_US_2015_03_01:23097003
database_cross_reference: UMLS_CUI:C0022810
has_obo_namespace: disease_ontology
in_subset: tick-borne infectious disease

Axiom
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems.
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm
annotated source: Kyasanur forest disease
annotated property: definition

acute schizophrenic episode subchronic state with acute exacerbation
type: Class
id: DOID:11327
has_obo_namespace: disease_ontology
deprecated: true

schizophreniform disorder
type: Class
subclass of: DOID 2468
definition: A psychotic disorder that involves schizophrenia symptoms over time period of one month.
id: DOID:11328
database_cross_reference: ICD10CM:F20.81
database_cross_reference: ICD9CM:295.4
database_cross_reference: MSH:D011618
database_cross_reference: NCI:C94376
database_cross_reference: SNOMEDCT_US_2015_03_01:88975006
database_cross_reference: UMLS_CUI:C0036358
has_obo_namespace: disease_ontology

Axiom
annotated target: A psychotic disorder that involves schizophrenia symptoms over time period of one month.
database_cross_reference: url:http://en.wikipedia.org/wiki/Schizophreniform_disorder
annotated source: schizophreniform disorder
annotated property: definition

ainhum
type: Class
subclass of: DOID 65
definition: A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
has_exact_synonym: Ainhum (disorder)
id: DOID:11329
has_exact_synonym: Dactylolysis spontanea
database_cross_reference: ICD10CM:L94.6
database_cross_reference: ICD9CM:136.0
database_cross_reference: MSH:D000387
database_cross_reference: NCI:C84544
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:103400
database_cross_reference: SNOMEDCT_US_2015_03_01:38528001
database_cross_reference: SNOMEDCT_US_2015_03_01:51404004
database_cross_reference: UMLS_CUI:C0001860
has_obo_namespace: disease_ontology

Axiom
annotated target: Dactylolysis spontanea
database_cross_reference: MTHICD9_2006:136.0
annotated source: ainhum
annotated property: has_exact_synonym

Axiom
annotated target: Ainhum (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:38528001
annotated source: ainhum
annotated property: has_exact_synonym

Axiom
annotated target: A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
database_cross_reference: url:http://en.wikipedia.org/wiki/Ainhum
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum
annotated source: ainhum
annotated property: definition

erysipelas
type: Class
subclass of: DOID 2723
id: DOID:11330
has_exact_synonym: Erysipelas (disorder)
database_cross_reference: ICD10CM:A46
database_cross_reference: ICD9CM:035
database_cross_reference: MSH:D004886
database_cross_reference: SNOMEDCT_US_2015_03_01:154305002
database_cross_reference: SNOMEDCT_US_2015_03_01:266005008
database_cross_reference: SNOMEDCT_US_2015_03_01:44653001
database_cross_reference: UMLS_CUI:C0014733
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease

Axiom
annotated target: Erysipelas (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:44653001
annotated source: erysipelas
annotated property: has_exact_synonym

Axiom
annotated target: Erysipelas (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:266005008
annotated source: erysipelas
annotated property: has_exact_synonym

sarcoidosis
type: Class
subclass of: DOID 2916
definition: A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
has_exact_synonym: Boeck sarcoid
id: DOID:11335
database_cross_reference: ICD10CM:D80-D89
database_cross_reference: ICD10CM:D86
database_cross_reference: ICD10CM:D86.9
database_cross_reference: ICD9CM:135
database_cross_reference: MSH:D012507
database_cross_reference: NCI:C34995
database_cross_reference: OMIM:181000
database_cross_reference: OMIM:609464
database_cross_reference: OMIM:612387
database_cross_reference: OMIM:612388
database_cross_reference: ORDO:797
database_cross_reference: SNOMEDCT_US_2015_03_01:154425004
database_cross_reference: SNOMEDCT_US_2015_03_01:31541009
database_cross_reference: UMLS_CUI:C0036202
comment: Xref MGI.
has_obo_namespace: disease_ontology
has_exact_synonym: lymphogranulomatosis
in_subset: DO MGI slim

Axiom
annotated target: A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
database_cross_reference: url:http://en.wikipedia.org/wiki/Sarcoidosis
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=sarcoidosis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956
annotated source: sarcoidosis
annotated property: definition

Axiom
database_cross_reference: CSP2005:2024-3715
annotated target: lymphogranulomatosis
annotated source: sarcoidosis
annotated property: has_exact_synonym

rhinoscleroma
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
id: DOID:11336
database_cross_reference: ICD9CM:040.1
database_cross_reference: MSH:D012226
has_exact_synonym: Rhinoscleroma (disorder)
database_cross_reference: SNOMEDCT_US_2015_03_01:72409005
database_cross_reference: UMLS_CUI:C0035468
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
database_cross_reference: url:http://en.wikipedia.org/wiki/Rhinoscleroma
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma
annotated source: rhinoscleroma
annotated property: definition

Axiom
annotated target: Rhinoscleroma (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:72409005
annotated source: rhinoscleroma
annotated property: has_exact_synonym

Lemierre's syndrome
type: Class
subclass of: commensal bacterial infectious disease
definition: A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
id: DOID:11337
database_cross_reference: ICD9CM:040.3
has_exact_synonym: Lemierre syndrome
database_cross_reference: MSH:D005674
database_cross_reference: SNOMEDCT_US_2015_03_01:52542005
database_cross_reference: UMLS_CUI:C0027537
has_related_synonym: acute sore throat
has_obo_namespace: disease_ontology
has_exact_synonym: human necrobacillosis
has_exact_synonym: postanginal sepsis
in_subset: gram-negative bacterial infectious disease

Axiom
annotated target: A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
database_cross_reference: url:http://en.wikipedia.org/wiki/Fusobacterium_necrophorum
database_cross_reference: url:http://www.bsac.org.uk/pyxis/head_and_Neck_Infections/Necrobacillosis/NecrobacillosisF.htm
annotated source: Lemierre's syndrome
annotated property: definition

tetanus
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
id: DOID:11338
database_cross_reference: ICD10CM:A35
database_cross_reference: ICD9CM:037
has_exact_synonym: Infection due to Clostridium tetani (disorder)
database_cross_reference: MSH:D013742
database_cross_reference: NCI:C85185
database_cross_reference: SNOMEDCT_US_2015_03_01:154312006
database_cross_reference: SNOMEDCT_US_2015_03_01:276202003
database_cross_reference: SNOMEDCT_US_2015_03_01:76902006
has_exact_synonym: Tetanus (disorder)
database_cross_reference: UMLS_CUI:C0039614
has_exact_synonym: clostridial tetanus
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:76902006
annotated target: Tetanus (disorder)
annotated source: tetanus
annotated property: has_exact_synonym

Axiom
annotated target: A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
database_cross_reference: url:http://emedicine.medscape.com/article/786414-overview#a0104
database_cross_reference: url:http://en.wikipedia.org/wiki/Tetanus
annotated source: tetanus
annotated property: definition

Axiom
annotated target: Infection due to Clostridium tetani (disorder)
database_cross_reference: SNOMEDCT_2005_07_31:276202003
annotated source: tetanus
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:0368-2622
annotated target: clostridial tetanus
annotated source: tetanus
annotated property: has_exact_synonym

pneumocystosis
type: Class
subclass of: DOID 2473
definition: An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever.
id: DOID:11339
database_cross_reference: ICD10CM:B59
database_cross_reference: ICD9CM:136.3
database_cross_reference: MSH:D011020
database_cross_reference: NCI:C3334
has_exact_synonym: Pneumocystis carinii pneumonia
has_exact_synonym: Pneumocystis jirovecii pneumonia
has_exact_synonym: Pneumocystis pneumonia
has_exact_synonym: Pneumocystosis
has_exact_synonym: Pneumocystosis pneumonia
database_cross_reference: SNOMEDCT_US_2015_03_01:155557008
database_cross_reference: SNOMEDCT_US_2015_03_01:415125002
database_cross_reference: SNOMEDCT_US_2015_03_01:57541005
database_cross_reference: SNOMEDCT_US_2015_03_01:88860002
database_cross_reference: UMLS_CUI:C1535939
has_obo_namespace: disease_ontology
has_exact_synonym: pulmonary pneumocystosis (disorder)

Axiom
database_cross_reference: SNOMEDCT_2005_07_31:57541005
annotated target: pulmonary pneumocystosis (disorder)
annotated source: pneumocystosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: ICD9CM_2006:136.3
annotated target: Pneumocystosis
annotated source: pneumocystosis
annotated property: has_exact_synonym

Axiom
database_cross_reference: CSP2005:2596-6076
annotated target: Pneumocystis pneumonia
annotated source: pneumocystosis
annotated property: has_exact_synonym

Axiom
annotated target: An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever.
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm
annotated source: pneumocystosis
annotated property: definition

Axiom
annotated target: Pneumocystis carinii pneumonia
database_cross_reference: SNOMEDCT_2005_07_31:155557008
annotated source: pneumocystosis
annotated property: has_exact_synonym