A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
hemangiosarcoma
angiosarcoma
A disease that involves errors in metabolic processes of building or degradation of molecules.
metabolic disease
disease of metabolism
A lupus erythematosus caused by chronic use of certain drugs.
DIL
DILE
drug-induced lupus erythematosus
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.
haemophagocytic syndrome
Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
hemophagocytic lymphohistiocytosis
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.
sinusitis
A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
Kartagener's syndrome
Kartagener syndrome
A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.
FIBROCYSTIC PULMONARY DYSPLASIA
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
cryptogenic fibrosing alveolitis
OMIM mapping confirmed by DO. [SN].
idiopathic pulmonary fibrosis
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.
BOOP
Cryptogenic organising pneumonitis
Cryptogenic organizing pneumonitis
bronchiolitis obliterans organising pneumonia
bronchiolitis obliterans organizing pneumonia
cryptogenic organising pneumonia
idiopathic bronchiolitis obliterans with organising pneumonia
idiopathic bronchiolitis obliterans with organizing pneumonia
cryptogenic organizing pneumonia
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.
RBILD
familial desquamative interstitial pneumonitis
respiratory bronchiolitis-associated interstitial lung disease
desquamative interstitial pneumonia
A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
Eaton-Lambert syndrome
LEMS
Lambert-Eaton syndrome
Lambert-Eaton myasthenic syndrome
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.
urogenital trichomonas
Trichomonas vaginalis trichomoniasis
A hypothyroidism that is present at birth.
Xref MGI. OMIM mapping confirmed by DO. [SN].
congenital hypothyroidism
An intestinal disease that is characterized by predisposition to colon cancer.
adenomatous polyposis of the colon
familial adenomatous polyposis
A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
WED
Willis-Ekbom disease
Wittmaack-Ekbom syndrome
Xref MGI.
restless legs syndrome
A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
Stevens-Johnson syndrome
A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
xeroderma pigmentosum
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
Hailey-Hailey disease
A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
MEN2A
Sipple syndrome
multiple endocrine neoplasia II
multiple endocrine neoplasia type 2A
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 and limited or no involvement of the left ventricle.
ARVC
ARVC cardiomyopathy
ARVD
arrhythmogenic right ventricular dysplasia
arrhythmogenic right ventricular dysplasia/cardiomyopathy
right ventricular ACM
arrhythmogenic right ventricular cardiomyopathy
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.
Multiple OMIM IDs are susceptibility terms [LS]
Asperger syndrome
A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
fatal familial insomnia
A long QT 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.
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Andersen syndrome
LQT7
Long QT syndrome 7
Potassium-Sensitive Cardiodysrhythmic Type
Andersen-Tawil syndrome
A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
MUL
Mulibrey growth disorder
Muscle-Liver-Brain-Eye Nanism
PERICARDIAL CONSTRICTION AND GROWTH FAILURE
Perheentupa Syndrome
mulibrey nanism
A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
ANTOPOL DISEASE
PSEUDOGLYCOGENOSIS II
Danon disease
A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
Frasier syndrome
A syndrome characterized by a combination of hearing loss and visual impairment.
Xref MGI. OMIM mapping confirmed by DO. [LS].
Usher syndrome
A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Dunnigan Syndrome
Koberling-Dunnigan Syndrome
familial partial lipodystrophy
A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
Sulfatidosis, Juvenile, Austin Type
multiple sulfatase deficiency disease
mucosulfatidosis
A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
infantile phytanic acid storage disease
infantile Refsum disease
A rickets that 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.
Hypophosphatemia, Vitamin D-Resistant Rickets
Vitamin D-Resistant Rickets, X-Linked
X-linked dominant hypophosphatemic rickets
X-linked hypophosphatemia
hypophosphatemic rickets X-linked dominant
X-linked hypophosphatemic rickets
A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
hereditary mucosal leukokeratosis
white sponge nevus of Cannon
2023 nomenclature update to white sponge nevus.
white sponge nevus
A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn-Lewandowsky Syndrome
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
Pachyonychia Congenita Type 1
pachyonychia congenita
A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Gitelman syndrome
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Bangungut
Brugada type idiopathic ventricular fibrillation
Dream disease
Pokkuri death syndrome
SUNDS
sudden unexplained nocturnal death syndrome
Brugada syndrome
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
Mevalonate Kinase Deficiency
mevalonic aciduria
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.
lissencephaly
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.
Bairnsdale ulcer
Daintree ulcer
Mossman ulcer
Searl ulcer
Searle's ulcer
Buruli ulcer disease
A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
DEL CASTILLO SYNDROME
Germinal Cell Aplasia
Sertoli cell-only syndrome
A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
juvenile myelomonocytic leukemia
A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
hyperphosphatemia
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
4p deletion syndrome
PITT SYNDROME
Pitt-Rogers-Danks Syndrome
chromosome 4p16.3 deletion syndrome
OMIM mapping confirmed by DO. [LS].
Wolf-Hirschhorn syndrome
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
aspartylglucosaminidase deficiency
aspartylglycosaminuria
glycosylasparaginase deficiency
aspartylglucosaminuria
An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
Acampomelic Campomelic Dysplasia
campomelic dysplasia
A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
Farber disease
N-laurylsphingosine deacylase deficiency
acid ceramidase deficiency
Farber lipogranulomatosis
A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
Muir-Torre syndrome
A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
Loeys-Dietz syndrome
A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Erythrokeratodermia Figurata Variabilis
Greither Disease
erythrokeratodermia variabilis
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.
yellow nail syndrome
A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
FCS SYNDROME
Faciocutaneoskeletal Syndrome
Costello syndrome
A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
Leprechaunism
Donohue syndrome
A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
Carney Complex, Type 1
Carney Complex, Type 2
Carney Syndrome
Carney complex variant
LAMB Syndrome
NAME Syndrome
Carney complex
A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
monilethrix
A syndrome 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.
Alstrom syndrome
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
GEMSS syndrome
Marchesani-Weill Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
congenital mesodermal dystrophy
Weill-Marchesani syndrome
A 3-methylglutaconic aciduria 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.
3-methylglutaconicaciduria type 2
3-methylglutaconicaciduria type II
MGA Type 2
MGA type II
Barth syndrome
A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
Liddle's syndrome
Pseudoaldosteronism
Liddle syndrome
A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
exanthem
A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
Roseola Infantum
Sixth Disease
exanthem subitum
exanthema subitum
A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), 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.
ATLL
Adult T-cell leukemia/lymphoma (HTLV-1 positive)
adult T-cell leukemia
adult T-cell leukemia/lymphoma
A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
MODY
Mason-type diabetes
maturity-onset diabetes of the young
A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
SMA II
SMA2
spinal muscular atrophy 2
spinal muscular atrophy type II
intermediate spinal muscular atrophy
An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
Infantile spasms syndrome
West syndrome
An intestinal disease characterized by inflammation located in all parts of digestive tract.
inflammatory bowel disease
A tooth disease characterized by failure to develop one or more missing teeth.
familial tooth agenesis
hypodontia
oligodontia
selective tooth agenesis
tooth agenesis
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.
Katayama fever
Schistosoma japonicum infection
Schistosoma mansoni infectious disease
schistosomiasis japonica
intestinal schistosomiasis
A respiratory system cancer that is located_in the paranasal sinuses.
Mucoepidermoid carcinoma of Accessory sinus
adenoid cystic carcinoma of Accessory sinus
carcinoma of accessory sinus
carcinoma of paranasal sinus
paranasal sinus adenocarcinoma
paranasal sinus adenoid cystic carcinoma
paranasal sinus mucoepidermoid carcinoma
adenoid cystic carcinoma of paranasal sinus
paranasal sinus cancer
A hepatobiliary benign neoplasm located_in the biliary tract.
extrahepatic bile duct neoplasm
neoplasm of extrahepatic bile ducts
tumor of the extrahepatic bile duct
biliary tract benign neoplasm
A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
familial hypotransferrinemia
atransferrinemia
A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
PHTS
PTEN hamartoma tumor syndrome
BRRS
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Zonana syndrome
Lhermitte-Duclos disease
Proteus-like syndrome
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome
SOLAMEN syndrome
dysplastic cerebellar gangliocytoma
dysplastic gangliocytoma of cerebellum
segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome
Cowden syndrome 1
A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.
benign congenital muscular dystrophy
Bethlem myopathy
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
ARTHROCUTANEOUVEAL GRANULOMATOSIS
BLAUS
Jabs syndrome
Blau syndrome
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.
BFLS
BORJ
Borjeson syndrome
MRXSBFL
intellectual deficiency-epilepsy-endocrine disorders syndrome
mental retardation, epilepsy, and endocrine disorder
syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Borjeson-Forssman-Lehmann syndrome
A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
Small cell carcinoma - intermediate cell
Small cell carcinoma, intermediate cell
intermediate cell small cell carcinoma
small cell carcinoma
A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
Dent's disease
X-linked hypercalciuric nephrocalcinosis
Dent disease
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Cardiomyopathies
MESH:D009202 added from NeuroDevNet [WAK].
cardiomyopathy
A substance dependence that is characterized by a physical dependence on nicotine.
tobacco use disorder
nicotine dependence
A non-Hodgkin lymphoma involving aberrant T-cells.
anaplastic large cell lymphoma
A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.
DLBCL
diffuse large B-cell lymphoma
A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
splenic marginal zone lymphoma
A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
Large granular lymphocytic leukaemia
Large granular lymphocytic leukemia
T-cell large granular lymphocyte leukaemia
T-cell large granular lymphocyte leukemia
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_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
myotonic dystrophy type 2
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Levine-Critchley syndrome
choreo-acanthocytosis
choreaacanthocytosis
A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
chemodectoma
glomus body tumor
paraganglioma
A syndrome that is characterized 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.
Zollinger-Ellison syndrome
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.
persistent Muellerian duct syndrome
persistent Mullerian duct syndrome
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Peroxisomal acyl-coenzyme A oxidase
peroxisomal acyl-CoA oxidase deficiency
A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
AV block
atrioventricular block
A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
CHARGE association
CHARGE syndrome
A dystonia that affects most or all of the body.
familial dystonia
fragments of torsion dystonia
Dystonia 12
MESH:C538001 added from NeuroDevNet [WAK].
generalized dystonia
A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
sleep apnea
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.
obstructive sleep apnea syndrome
obstructive sleep apnea
A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
MWS
neutrophilic urticaria
Muckle-Wells syndrome
A colorectal carcinoma that derives_from epithelial cells of glandular origin.
colorectal adenocarcinoma
A head and neck squamous cell carcinoma that is located_in the tongue.
tongue squamous cell carcinoma
A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
Caroli disease
An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
CNS PNET
CPNET
Medulloblastoma, histologically defined
brain medulloblastoma
infratentorial primitive neuroectodermal tumor
localized primitive neuroectodermal tumor
medulloblastoma
A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
MALT lymphoma
MALT lymphoma of the dura
mucosa-associated lymphoid tissue lymphoma
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
rectum adenoma
rectal adenoma
A breast carcinoma that derives_from breast lobules (milk glands).
breast lobular carcinoma
A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.
coarctation of the aorta
A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in 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.
SCID-X1
XSCID
gamma chain deficiency
thymic epithelial hypoplasia
X-linked severe combined immunodeficiency
A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in 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.
De Vaal disease
aleukocytosis
reticular dysgenesis
A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is 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.
CD40 deficiency
HIGM3
hyper-IgM syndrome due to CD40 deficiency
type 3 hyper-IgM immunodeficiency
immunodeficiency with hyper IgM type 3
A syndrome 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 has_material_basis_in mutations in the IRF6 gene on chromosome 1.
facio-genito-popliteal syndrome
popliteal web syndrome
NT MGI.
popliteal pterygium syndrome
A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
lymphoid cancer
lymphoma
A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
non-Hodgkin lymphoma
A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.
cutaneous T cell lymphoma
cutaneous T-cell lymphoma
primary cutaneous T-cell non-Hodgkin lymphoma
A benign neoplasm that is classified by the organ system from which it is arising from.
organ system benign neoplasm
A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
CNS embryonal tumour, NEC/NOS
central nervous system primitive neuroectodermal neoplasm
central nervous system embryonal tumor
A gastrointestinal system cancer that is located_in the pharynx.
pharyngeal neoplasm
pharynx neoplasm
pharyngeal cancer
pharynx cancer
A musculoskeletal system benign neoplasm that is located_in connective tissue.
mesenchymal tissue neoplasm
neoplasm of soft tissue
neoplasm of soft tissues
soft tissue benign neoplasm
tumor of the soft tissue
connective tissue benign neoplasm
A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
heavy chain disease
An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
apraxia
A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
spinal muscular atrophies of childhood
survival motor neuron spinal muscular atrophy
childhood spinal muscular atrophy
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.
Kennedy disease
SBMA
Spinobulbar Muscular Atrophy
X-Linked Bulbo-Spinal Atrophy
X-linked Spinal and Bulbar Muscular Atrophy
spinal bulbar muscular atrophy
Kennedy's disease
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.
DRPLA
Haw River Syndrome
Naito-Oyanagi disease
dentatorubral-pallidoluysian atrophy
An inflammatory bowel disease that involves inflammation located_in colon.
colitis
A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
microscopic colitis
A colitis characterized by a distinctive thickening of the subepithelial collagen table.
Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.
collagenous colitis
A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.
lymphocytic colitis
A colitis characterized by an overgrowth of Clostridium difficile bacteria.
Pseudomembranous colitis
Clostridium difficile colitis
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.
Crohn's ileitis
ileitis
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.
OWL classification.
Crohn's colitis
A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
Balo disease
Balo's concentric sclerosis
Tumefactive multiple sclerosis
Similar to standard multiple sclerosis.
Balo concentric sclerosis
An 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.
Cogan-Reese syndrome
A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
CREST syndrome
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.
A-fib
AFib
atrial fibrillation
An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
acrocephalopolysyndactyly type II
Carpenter syndrome
A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
CPT-II
infantile carnitine palmitoyltransferase II deficiency
late-onset carnitine palmitoyltransferase II deficiency
lethal neonatal carnitine palmitoyltransferase II deficiency
carnitine palmitoyltransferase II deficiency
A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
lip-pit syndrome
Van der Woude syndrome
A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
syndactyly type 2
synpolydactyly
An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
familial persistent stuttering
stammering
stuttering
A hereditary spastic paraplegia that is 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.
CRASH syndrome
Gareis-Mason syndrome
L1 syndrome
SPG1
X-linked complicated hereditary spastic paraplegia type 1
X-linked corpus callosum agenesis
X-linked spastic paraplegia 1
hereditary spastic paraplegia 1
MASA syndrome
A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
DGSX Golabi-Rosen syndrome
Golabi-Rosen syndrome
SGB syndrome
Sara Angers syndrome
Simpson dysmorphia syndrome
X-linked dysplasia gigantism syndrome
bulldog syndrome
Simpson-Golabi-Behmel syndrome type 1
A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
NT MGI add.
scoliosis
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.
sclerosteosis
A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
Robinow dwarfism
acral dysostosis with facial and genital abnormalities
fetal face syndrome
Robinow syndrome
A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
reticulate acropigmentation of Dohi
dyschromatosis symmetrica hereditaria
An eye disease characterized by the drooping or falling of the upper or lower eyelid.
blepharoptosis
drooping eyelid
ptosis
A ptosis characterized by superior eyelid drop present at birth.
hereditary congenital ptosis
congenital ptosis
A gastrointestinal system disease that is located_in the gallbladder.
gallbladder disease
A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
persistent hyperplastic primary vitreous
An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
paroxysmal nocturnal hemoglobinuria
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
dyschromatosis universalis hereditaria
A cheilitis characterized by inflammation of one or both of the corners of the mouth.
angular cheilosis
angular stomatitis
cheilosis
commissural cheilitis
PRISM.
angular cheilitis
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.
hairy leukoplakia
oral hairy leukoplakia
An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
Papillon-Leage-Psaume syndrome
orofaciodigital syndrome 1
orofaciodigital syndrome type I
orofaciodigital syndrome I
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.
lung abscess
An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
acute myeloblastic leukaemia type 3
acute myeloblastic leukemia type 3
acute myeloid leukaemia M3
acute myeloid leukemia M3
acute promyelocytic leukaemia
acute promyelocytic leukemia
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.
cardiopulmonary arrest
circulatory arrest
cardiac arrest
An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
inguinal hernia
A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
umbilical hernia
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.
mastoiditis
A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
myelomeningocele
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.
exomphalos
omphalocoele
omphalocele
A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
eccyesis
ectopic pregnancy
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.
bacillary angiomatosis
A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
HRD syndrome
Sanjad-Sakati syndrome
hypoparathyroidism with short stature, mental retardation and seizures
hypoparathyroidism-retardation-dysmorphism syndrome
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
2,8-dihydroxyadenine urolithiasis
APRT deficiency
adenine phosphoribosyltransferase deficiency
A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
9q subtelomeric deletion syndrome
9q-syndrome
9q34 deletion syndrome
Kleefstra syndrome 1
A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Vici syndrome
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 has_material_basis_in 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.
MAD deficiency
MADD
electron transfer flavoprotein deficiency
electron transfer flavoprotein ubiquinone oxidoreductase deficiency
glutaric acidemia type 2
glutaric aciduria type 2
multiple acyl-CoA dehydrogenase deficiency
A Joubert syndrome that is characterized by orofaciodigital defect.
OFD6
Polydactyly cleft lip palate psychomotor retardation
Varadi syndrome
Varadi-Papp syndrome
orofaciodigital syndrome VI
Joubert syndrome with orofaciodigital defect
An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
Blomstrand lethal chondrodysplasia
chondrodysplasia Blomstrand type
A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
18p- syndrome
De Grouchy syndrome
monosomy 18p
chromosome 18p deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
1p36 deletion syndrome
deletion 1p36
monosomy 1p36
subtelomeric 1p36 deletion
chromosome 1p36 deletion syndrome
An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
Cole-Carpenter syndrome
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 has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
LPI
dibasic amino aciduria II
hyperdibasic aminoaciduria
lysinuric protein intolerance
An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
GDCD
corneal amyloidosis
primary familial amyloidosis of the cornea
subepithelial amyloidosis of the cornea
gelatinous drop-like corneal dystrophy
An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
MECD
Stocker-Holt dystrophy
juvenile hereditary epithelial dystrophy
Meesmann corneal dystrophy
An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
Desbuquois syndrome
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Desbuquois dysplasia
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.
nuclear protein in testis midline carcinoma
NUT midline carcinoma
A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
atrio-digital syndrome
atriodigital dysplasia
heart-hand syndrome
Holt-Oram syndrome
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
MDS
Miller-Dieker syndrome
Miller-Dieker lissencephaly syndrome
A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
fetal valproic acid syndrome
foetal valproate syndrome
foetal valproic acid syndrome
fetal valproate syndrome
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.
KMS
Kabuki make up syndrome
Niikawa-Kuroki syndrome
Kabuki syndrome
A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
Zika virus disease
Zika fever
A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
Hirschsprung disease mental retardation syndrome
microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Mowat-Wilson syndrome
A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Pitt-Hopkins syndrome
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
Schimke immunoosseous dysplasia
Schimke syndrome
immunoosseous dysplasia Schimke type
spondyloepiphyseal dysplasia - nephrotic syndrome
Schimke immuno-osseous dysplasia
An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
hepatoid adenocarcinoma
A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
breast tumor luminal
luminal breast cancer
Luminal A Breast Carcinoma
luminal breast carcinoma A
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
VWD type 1
VWD1
von Willebrand disease type 1
von Willebrand disease type I
von Willebrand's disease 1
An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
WHIMS
warts, hypogammaglobulinemia, infections, and myelokathexis
warts-hypogammaglobulinemia-infections-myelokathexis syndrome
WHIM syndrome 1
An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
B-cell adult acute lymphocytic leukaemia
adult B acute lymphoblastic leukaemia
adult B acute lymphoblastic leukemia
adult B-lymphoblastic leukaemia
adult B-lymphoblastic leukemia
adult b-cell acute lymphoblastic leukaemia
adult b-cell acute lymphoblastic leukemia
adult b-cell lymphocytic leukaemia
adult b-cell lymphocytic leukemia
B-cell adult acute lymphocytic leukemia
A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
aCML
atypical CML
atypical chronic myeloid leukaemia
atypical chronic myeloid leukaemia BCR-ABL1 negative
atypical chronic myeloid leukemia BCR-ABL1 negative
subacute myeloid leukemia
atypical chronic myeloid leukemia, BCR-ABL1 negative
A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
Berdon syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
visceral myopathy
megacystis-microcolon-intestinal hypoperistalsis syndrome
A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
primary sclerosing cholangitis
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
ARCI
lamellar ichthyosis
non bullous congenital ichthyosiform erythroderma
autosomal recessive congenital ichthyosis
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
FGFR3-related craniosynostosis
Muenke Syndrome
A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
TDH2B
congenital hypothyroidism due to dyshormonogenesis 2B
deafness with goiter
genetic defect in thyroid hormonogenesis 2B
goiter-deafness syndrome
thyroid dyshormonogenesis 2B
Pendred Syndrome
A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
AID deficiency
HIGM2
activation-induced cytidine deaminase deficiency
hyper-IgM syndrome type 2
immunodeficiency with hyper-IgM type 2
A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
HIGM4
hyper-IgM syndrome type 4
immunodeficiency with hyper-IgM type 4
A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
Rudiger syndrome 1
Walker-Clodius syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome
ectrodactyly-ectodermal dysplasia-clefting syndrome
EEC syndrome
An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
EEC syndrome 3
EEC3
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
EEC syndrome 1
EEC1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
Lubs X-linked mental retardation syndrome
MECP2 duplication syndrome
MRXSL
X-linked intellectual disability-hypotonia-recurrent Infections syndrome
mental retardation, X-linked, syndromic, Lubs type
mental retardation, X-linked, with recurrent respiratory infections
syndromic X-linked intellectual disability Lubs type
A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
Fried syndrome
MRX59
MRXS21
Mental retardation, X-linked syndromic 5
Pettigrew syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked mental retardation 59
X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
syndromic X-linked mental retardation 21
syndromic X-linked mental retardation Fried type
syndromic X-linked intellectual disability 5
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
GS2
Griscelli syndrome with hemophagocytic syndrome
Griscelli-Prunieras syndrome type 2
PAID syndrome
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
partial albinism and immunodeficiency syndrome
Griscelli syndrome type 2
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
Episkopi blindness
Norrie-Warburg disease
atrophia bulborum hereditaria
Norrie disease
An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
Leri-Weill dyschondrosteosis
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
OPPG
ocular form of osteogenesis imperfecta
osteoporosis-pseudoglioma syndrome
A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.
annular pancreas
A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.
familial pemphigus vulgaris
pemphigus vulgaris
A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
microcoria-congenital nephrosis syndrome
Pierson syndrome
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
17p11.2 microduplication syndrome
chromosome 17p11.2 duplication syndrome
trisomy 17p11.2
Potocki-Lupski syndrome
A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
PHA1B
autosomal recessive PHA 1
autosomal recessive pseudohypoaldosteronism type 1
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
De Morsier syndrome
SOD
septo-optic dysplasia
septooptic dysplasia
A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
IGHD
congenital IGHD
congenital isolated GH deficiency
congenital isolated growth hormone deficiency
familial isolated growth hormone deficiency
non-acquired isolated growth hormone deficiency
isolated growth hormone deficiency
An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
bullous type ichthyosis
ichthyosis bullosa of Siemens
superficial epidermolytic ichthyosis
bullous congenital ichthyosiform erythroderma
A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
Barakat syndrome
HDR syndrome
hypoparathyroidism, sensorineural deafness, and renal disease
hypoparathyroidism-deafness-renal disease syndrome
A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
Waldenstroem's macroglobulinemia
Waldenstrom Macroglobulinemia
lymphoplasmacytic lymphoma with IgM gammopathy
Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia.
lymphoplasmacytic lymphoma
An atherosclerosis of the coronary vasculature.
coronary atherosclerosis
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
MRD9
NESCAVS
autosomal dominant intellectual disability 9
autosomal dominant mental retardation 9
autosomal dominant non-syndromic intellectual disability 9
neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
NESCAV syndrome
A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
HSAN5
hereditary sensory and autonomic neuropathy type V
hereditary sensory and autonomic neuropathy type 5
A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
hereditary sensory neuropathy type IV
insensitivity to pain, congenital, with anhidrosis
hereditary sensory neuropathy type 4
A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
HSAN1
hereditary sensory and autonomic neuropathy type I
hereditary sensory and autonomic neuropathy type 1
A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
SPGF6
spermatogenic failure 6
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
FPLD2
familial lipodystrophy of limbs and lower trunk
familial partial lipodystrophy Dunnigan type
reverse partial lipodystrophy
familial partial lipodystrophy type 2
A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
LMPH1
Milroy disease
Nonne-Milroy lymphedema
PCL
congenital primary lymphedema
hereditary lymphedema type I
hereditary lymphedema I
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
EIHI
HHF7
exercise-induced hyperinsulinemic hypoglycemia
exercise-induced hyperinsulinism
hyperinsulinism due to SLC16A1 deficiency
hyperinsulinism due to monocarboxylate transporter 1 deficiency
familial hyperinsulinemic hypoglycemia 7
An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Byler disease
PFIC
progressive familial intrahepatic cholestasis
An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.
BRIC
Summerskill-Walshe-Tygstrup syndrome
benign recurrent intrahepatic cholestasis
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
CDG IIc
CDG2C
CDGIIc
Rambam-Hasharon syndrome
congenital disorder of glycosylation type IIc
A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
COCA1
FCC1
HNPCC1
familial nonpolyposis colon cancer type 1
hereditary nonpolyposis colorectal cancer type 1
Lynch syndrome 1
A nutritional deficiency disease that is characterized by low levels of thiamine.
thiamine deficiency disease
A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.
CON
congenital obstructive nephropathy
obstructive nephropathy
A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.
Right hypoplastic heart syndrome
hypoplastic right heart syndrome
A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.
pediatric hepatocellular carcinoma
childhood hepatocellular carcinoma
A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
childhood acute myeloid leukaemia
paediatric acute myeloid leukaemia
pediatric acute myeloid leukemia
childhood acute myeloid leukemia
An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.
malignant pediatric adrenal gland pheochromocytoma
malignant childhood adrenal gland pheochromocytoma
A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
atypical spitz nevus
spitzoid melanoma
A skin melanoma that arises from a congenital melanocytic nevus.
Malignant melanoma in congenital melanocytic nevus
melanocytic nevi
melanoma in congenital melanocytic nevus
A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.
adult hepatoma
adult primary hepatocellular carcinoma
adult hepatocellular carcinoma
A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
MCDR1
NCMD
central areolar pigment epithelial dystrophy
central retinal pigment epithelial dystrophy
progressive foveal dystrophy
retinal macular dystrophy 1
North Carolina macular dystrophy
A renal cell carcinoma that develops in the renal medulla.
RMC
kidney medullary carcinoma
medullary carcinoma of the kidney
medullary renal cell carcinoma
renal medullary carcinoma
SMARCB1-deficient renal medullary carcinoma
A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
neurofibromatosis 3
SMARCB1-related schwannomatosis
SWN1
schwannomatosis 1
A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.
LZTR1-related schwannomatosis
SWN2
schwannomatosis 2
A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
LGSS
NF1-like syndrome
neurofibromatosis type 1-like syndrome
Legius syndrome
A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
PKDYS1
classic DTDS
infantile parkinsonism-dystonia 1
classic dopamine transporter deficiency syndrome
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
MC4DN1
mitochondrial complex IV deficiency nuclear type 1
An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.
SGS
Schinzel-Giedion midface retraction syndrome
Schinzel Giedion syndrome
A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
HNRNPH2-RNDD
HNRNPH2-related neurodevelopmental disorder
MRXSB
Mental Retardation, X-linked, Syndrome, Bain Type
syndromic X-linked intellectual developmental disorder bain type
A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.
ECHS1D
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
HMG-CoA lyase deficiency
HMGCL deficiency
HMGCLD
hydroxymethylglutaric aciduria
HL deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
FBS
glycogen storage disease XI
glycogenosis type XI
glycogenosis, Fanconi type
glycogenosis type XI is a historical and now discouraged synonym.
Fanconi-Bickel syndrome
A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.
DDS
dialysis dysequilibrium syndrome
disequilibrium syndrome
dysequilibrium syndrome
dialysis disequilibrium syndrome
A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children.
RTPS
familial posterior fossa brain tumor syndrome of infancy
rhabdoid predisposition syndrome
rhabdoid tumor predisposition syndrome
A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
r(20) syndrome
r20 syndrome
ring 20 syndrome
ring chromosome 20 epilepsy syndrome
ring 20
ring chromosome 20
ring chromosome 20 syndrome
A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement.
B-lymphoblastic leukaemia with MEF2D rearrangement
B-lymphoblastic leukemia with MEF2D rearrangement
A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement.
B Acute Lymphoblastic Leukemia with MEF2D Rearrangement
B-lymphoblastic leukaemia with MYC rearrangement
B-lymphoblastic leukemia with MYC rearrangement
A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement.
B-lymphoblastic leukaemia with NUTM1 rearrangement
B-lymphoblastic leukemia with NUTM1 rearrangement
A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions.
B-Acute Lymphoblastic Leukemia with PAX5 Alteration
B-lymphoblastic leukaemia with PAX5alt
B-lymphoblastic leukemia with PAX5alt
A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement.
B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Fusion
B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement
B-lymphoblastic leukaemia with TCF3::HLF fusion
B-lymphoblastic leukemia with TCF3::HLF fusion
B-lymphoblastic leukemia with TCF3-HLF fusion
A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement.
B-lymphoblastic leukaemia with ZNF384 rearrangement
B-lymphoblastic leukemia with ZNF384 rearrangement
An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene.
Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2
Acute myeloid leukaemia with CBFA2T3::GLIS2 fusion
acute myeloid leukemia with CBFA2T3::GLIS2 fusion
acute myeloid leukemia with inv(16)(p13q24)
acute myeloid leukemia with CBFA2T3-GLIS2 fusion
An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.
Acute myeloid leukaemia with KAT6A::CREBBP fusion
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
acute myeloid leukemia with KAT6A::CREBBP fusion
acute myeloid leukemia with KAT6A-CREBBP fusion
An acute myeloid leukemia associated with FUS-ERG gene fusion.
Acute myeloid leukaemia with FUS::ERG fusion
acute myeloid leukemia with FUS::ERG fusion
acute myeloid leukemia with t(16;21)(p11.2;q22)
acute myeloid leukemia with FUS-ERG fusion
An acute myeloid leukemia associated with MXN1-ETV6 gene fusion.
Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6
Acute myeloid leukaemia with MNX1::ETV6 fusion
acute myeloid leukemia with MNX1::ETV6 fusion
acute myeloid leukemia with t(7;12)(q36;p13)
acute myeloid leukemia with MNX1-ETV6 fusion
An acute myeloid leukemia associated with NPM1-MLF1 gene fusion.
Acute myeloid leukaemia with NPM1::MLF1 fusion
acute myeloid leukemia with NPM1::MLF1 fusion
acute myeloid leukemia with t(3;5)(q25;q35)
acute myeloid leukemia with NPM1-MLF1 fusion
A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.
FOXG1-related encephalopathy
FOXG1 syndrome
Rett syndrome, congenital variant
atypical Rett syndrome
congenital variant of Rett syndrome
A liver disease resulting from excessive alcohol intake.
ALD
alcohol-related liver disease
alcoholic liver disease
alcohol-associated liver disease
A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance.
SPTCL
subcutaneous panniculitis-like T-cell lymphoma
A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels).
soft tissue sarcoma
An oropharynx cancer that derives_from squamous epithelial cells.
OPSCC
epidermoid carcinoma of the oropharynx
oropharyngeal squamous cell carcinoma
A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.
lipofibromatosis
An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.
infantile myofibromatosis 1
An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
infantile myofibromatosis 2
A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
spina bifida
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
hypochondroplasia
A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
Chronic intestinal pseudo-obstruction
neuronal intestinal dysplasia
intestinal pseudo-obstruction
A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
congenital generalized fibromatosis
infantile myofibromatosis
A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.
mitochondrial DNA depletion syndrome 1 (MNGIE type)
mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
mitochondrial DNA depletion syndrome 1
A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.
Alper's syndrome
Alpers disease
Alpers progressive infantile poliodystrophy
Alpers syndrome
Alpers' disease or gray-matter degeneration
Diffuse Cerebral Sclerosis of Schilder
Polg disease
mitochondrial DNA depletion syndrome 4a
progressive sclerosing poliodystrophy
Alpers-Huttenlocher syndrome
A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
mitochondrial DNA depletion syndrome 12a
An acute lymphocytic leukemia occurring during childhood.
Childhood Acute Lymphoblastic Leukemia
childhood acute lymphocytic leukemia
A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells.
T-cell childhood acute lymphocytic leukemia
childhood precursor T-lymphoblastic lymphoma/leukemia
childhood T-cell acute lymphoblastic leukemia
A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells.
childhood B-cell acute lymphoblastic leukemia
A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
Childhood T lymphoblastic lymphoma
T-cell childhood lymphoblastic lymphoma
An acute monocytic leukemia occurring in adults.
adult acute monocytic leukemia
An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.
ORAS
OTULIN-related autoinflammatory syndrome
otulipenia
autoinflammation, panniculitis and dermatosis syndrome
In 2024, patients with an autosomal dominant ORAS-like disease were identified. The terms OTULIN-related autoinflammatory syndrome (ORAS) and otulipenia have thus far referred only to this autosomal recessive form, but may become more generally used to mean both inherited forms [JAB, 2025-07-31].
autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
Initially, this term was used only for the autosomal recessive disease but, in 2024, a new autosomal dominant form was identified and its use broadened to encompass both [JAB, 2025-07-31].
A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.
Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.
Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.
Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement
myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.
chronic neutrophilic leukemia
A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
chronic myelomonocytic leukemia
A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
malignant epithelioid hemangioendothelioma
A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
colorectal carcinoma
An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.
adenoid cystic carcinoma
A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.
nodal marginal zone lymphoma
A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.
EPPK
epidermolytic palmoplantar keratoderma
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
familial hypertrophic cardiomyopathy
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
mitochondrial DNA depletion syndrome 12b
A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.
chronic eosinophilic leukemia
A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
ovarian sex-cord stromal tumor
A sex cord-stromal benign neoplasm that arises from the ovary.
ovarian sex cord-stromal benign neoplasm
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Finnish congenital nephrosis
nephrotic syndrome type 1
A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.
non- squamous NSCLC
lung non-squamous non-small cell carcinoma
A thyroid gland carcinoma that is composed of undifferentiated cells.
thyroid gland anaplastic carcinoma
anaplastic thyroid carcinoma
A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
thyroid gland adenocarcinoma
A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
differentiated thyroid gland carcinoma
differentiated high-grade thyroid carcinoma
A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
dedifferentiated liposarcoma
A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
fibromyxoid sarcoma
myxofibrosarcoma
A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
HIGM
hyperimmunoglobulin M syndrome
immunodeficiency with hyper-IgM
hyper IgM syndrome
A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.
2019 Novel Coronavirus (2019-nCoV)
2019-nCoV infection
COVID19
SARS-CoV-2 infection
COVID-19
A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
benign teratoma
An immune system organ benign neoplasm that is located_in the lymph nodes.
lymph node benign neoplasm
A sensory system benign neoplasm that is located in the auditory system.
auditory system benign neoplasm
A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
B lymphoblastic leukemia/lymphoma
B-ALL
precursor B lymphoblastic lymphoma/leukemia
B-lymphoblastic leukemia/lymphoma
An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
B acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia
B-cell acute lymphoblastic leukemia
A biliary tract benign neoplasm that is located_in the gallbladder.
gallbladder benign neoplasm
A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli).
MERS
Middle East respiratory syndrome
A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.
B-ALL with BCR-ABL1
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1
B-lymphoblastic leukemia/lymphoma with BCR-ABL1
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged
B-ALL KMT2A rearranged
B-lymphoblastic leukemia/lymphoma KMT2A rearranged
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged
B-lymphoblastic leukemia/lymphoma MLL rearranged
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
B-ALL with ETV6-RUNX1
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.
B-ALL with hyperdiploidy
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.
B-ALL with hypodiploidy
B-lymphoblastic leukemia/lymphoma with hypodiploidy
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
B-ALL with IL3-IGH
B-lymphoblastic leukemia/lymphoma with IL3-IGH
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH
B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.
B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
B-ALL with TCF3-PBX1
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1
B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
B-ALL with iAMP21
Intrachromosomal amplification of chromosome 21 (iAMP21)
B-lymphoblastic leukemia/lymphoma with iAMP21
An urolithiasis in which the composition of the stones is predominantly urate.
uric acid urolithiasis
A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.
45,X/46,XY mixed gonadal dysgenesis
An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
Hardcastle syndrome
bone dysplasia-medullary fibrosarcoma syndrome
diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
diaphyseal medullary stenosis with malignant fibrous histiocytoma
A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.
Luminal B Breast Carcinoma
luminal breast carcinoma B
A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
diffuse intrinsic pontine glioma
diffuse midline glioma, H3 K27M-mutant
A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
Galloway-Mowat syndrome
A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
medulloblastoma WNT activated
A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
medulloblastoma SHH activated
A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
medulloblastoma SHH activated and TP53 mutant
A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
Medulloblastoma SHH-Activated TP53-Wildtype
medulloblastoma SHH activated and TP53 wild-type
A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
medulloblastoma non-WNT/non-SHH
A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
medulloblastoma non-WNT/non-SHH group 3
A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present.
medulloblastoma non-WNT/non-SHH group 4
A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
Distal myopathy, Nonaka type
Hereditary Inclusion Body Myopathy
Nonaka myopathy
inclusion body myopathy 2
Distal Myopathy with Rimmed Vacuoles
Distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused by OMIM for another disease, MIM:617158 (SQSTM1 gene) [LS].
GNE myopathy
A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
Cooley's anemia
beta-thalassemia major
A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
delta beta-thalassemia
An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.
complete androgen insensitivity syndrome
A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.
Sarcomatoid carcinoma of the lung
pulmonary sarcomatoid carcinoma
lung sarcomatoid carcinoma
A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.
plasmablastic lymphoma
An acute myeloid leukemia that is characterized by a predominant immature erythroid population.
acute erythroid leukemia
An endocrine organ benign neoplasm arising from the exocrine pancreas.
benign exocrine pancreas neoplasm
An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
pediatric non-Down syndrome acute megakaryoblastic leukemia
childhood acute megakaryoblastic leukemia
An acute myeloid leukemia that is characterized by primary differentiation to basophils.
acute basophilic leukemia
An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
core binding factor acute myeloid leukemia
A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.
nasal type extranodal NK/T-cell lymphoma
An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.
myeloid leukemia associated with Down Syndrome
A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.
sinonasal undifferentiated carcinoma
A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
salivary gland mucinous adenocarcinoma
A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).
human cytomegalovirus infection
A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).
benign glioma
low grade glioma
A meningioma that arises within the cranial cavity.
intracranial meningioma
A meningioma that affects the supratentorial brain.
supratentorial meningioma
A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
anaplastic pleomorphic xanthoastrocytoma
An anaplastic astrocytoma carrying IDH mutations.
IDH-mutant anaplastic astrocytoma
An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
IDH-wildtype anaplastic astrocytoma
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant.
astrocytoma, IDH-mutant, grade 4
A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
IDH-wildtype glioblastoma
A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
diffuse glioma, H3 G34 mutant
An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
Oligodendroglioma, IDH-mutant and 1p/19q-codeleted
anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted
IDH-mutant and 1p/19q-codeleted oligodendroglioma
A spinal cord ependymoma that is characterized by MYCN amplification.
Spinal Cord Ependymoma, MYCN Amplified
spinal ependymoma, MYCN
spinal ependymoma, MYCN-amplified
A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
C11orf95 fusion-positive supratentorial ependymoma
Supratentorial C11ORF95-RELA fused ependymoma
RELA fusion-positive ependymoma
A hemangioma that is characterized by complete regression.
rapidly involuting congenital hemangioma
A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.
lung pleomorphic carcinoma
An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42).
ependymoblastoma
embryonal tumor with multilayered rosettes, C19MC-altered
A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.
central nervous system neuroblastoma
A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
castration-resistant prostate carcinoma
A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
histiocytic sarcoma
An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
erythroleukemia
A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).
polymicrogyria
A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
CDCBM14A
complex cortical dysplasia with other brain malformations 14A
bilateral frontoparietal polymicrogyria
A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.
cytochrome P450 oxidoreductase deficiency
A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.
Acute myeleoid leukemia with BCR-ABL1
acute myeloid leukemia with BCR-ABL1
A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
DLBCL ABC type
diffuse large B-cell lymphoma activated B-cell type
A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
diffuse large B-cell lymphoma germinal center B-cell type
A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
HGBL-DH/TH
High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements
high-grade B-cell lymphoma double-hit/triple-hit
A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
benign peritoneal solitary fibrous tumor
A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.
glycogen-rich carcinoma
An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
mixed phenotype acute leukemia with BCR-ABL1
An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged
mixed phenotype acute leukemia with MLL rearranged
An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
mixed phenotype acute leukemia, B/myeloid
A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.
B Cell Prolymphocytic Leukemia
Prolymphocytic leukemia, B-cell type
B-cell prolymphocytic leukemia
A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
Prolymphocytic leukemia, T-cell type
T Cell Prolymphocytic Leukemia
T-cell prolymphocytic leukemia
A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.
hepatosplenic T-cell lymphoma
A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
Primary Cutaneous Gamma-Delta T Cell Lymphomas
cutaneous gamma/delta T-cell lymphoma
primary cutaneous gamma-delta T-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
BN2 DLBCL
BN2 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
EZB DLBCL
EZB diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
MCD DLBCL
MCD diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
N1 DLBCL
N1 diffuse large B-cell lymphoma
An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.
Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor
Agranular CD4+ Natural Killer Cell Leukemia
Blastic NK-Cell Lymphoma
Blastic Natural Killer Leukemia/Lymphoma
CD4+/CD56+ Hematodermic Neoplasm
natural killer (NK) cell leukemia/lymphoma
blastic plasmacytoid dendritic cell neoplasm
An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.
Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214
DEK-NUP214
acute myeloid leukemia with t(6;9)(p23;q34)
acute myeloid leukemia with t(6;9) (p23;q34.1)
An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.
acute promyelocytic leukemia, t(15;17)(q22;q11-12)
acute promyelocytic leukemia with PML-RARA
An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.
acute myelomonocytic leukemia
An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.
Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM
Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)
An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.
AML-M0
Acute myeloid leukemia, minimal differentiation
acute myeloid leukemia with minimal differentiation
An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.
acute myeloid leukemia without maturation
An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.
acute myeloid leukemia with maturation
An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.
acute myeloid leukemia with mutated NPM1
An acute myeloid leukemia with double mutations of the CEBPA gene.
acute myeloid leukemia with biallelic mutation of CEBPA
An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.
acute myeloid leukemia with mutated RUNX1
An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.
acute myeloid leukemia with myelodysplasia-related changes
An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1
acute myeloid leukemia, t(8;21)(q22;q22)
acute myeloid leukemia with t(8;21); (q22; q22.1)
An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.
Acute Myeloid Leukemia with KMT2A/MLL Rearrangement
acute myeloid leukemia, 11q23 abnormalities
acute myeloid leukemia with MLL rearrangement
An acute myeloid leukemia with non-germline mutations of the CEBPA gene.
acute myeloid leukemia with mutated CEBPA
An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1
acute myeloid leukemia with t(1;22)(p13;q13)
A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
Pituitary Gland Blastoma
pituitary blastoma
A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
Cauda equina neuroendocrine tumour
Spinal neuroendocrine tumors
Previously known as spinal paragangliomas.
cauda equina neuroendocrine tumor
A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course.
teratoma with somatic-type malignancy
A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.
dedifferentiated chondrosarcoma
An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation.
Pinealocytoma
Pinealoma
pineocytoma
A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
EWSR1-Negative Small Blue Round Cell Tumor
EWSR1-negative small round cell tumor
An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
Capicua transcriptional repressor (CIC)-rearranged sarcoma
CIC-rearranged sarcoma
A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.
Papillary tumour of the pineal region
papillary tumor of the pineal region
A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
supratentorial ependymoma, ZFTA fusion–positive
A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
supratentorial ependymoma, YAP1 fusion–positive
A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
Posterior Fossa Ependymoma, Group A (PFA)
Posterior fossa group A (PFA) ependymoma
posterior fossa group A ependymoma
A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
Posterior Fossa Ependymoma, Group B (PFB)
Posterior fossa group B (PFB) ependymoma
posterior fossa group B ependymoma
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
astrocytoma, IDH-mutant, grade 2
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
astrocytoma, IDH-mutant, grade 3
A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.
Desmoplastic Infantile Astrocytoma
desmoplastic infantile ganglioglioma
desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma
WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma.
desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
diffuse low-grade glioma, MAPK pathway–altered
A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.
angiocentric glioma
A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
infant-type hemispheric glioma
A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
diffuse astrocytoma, MYB- or MYBL1-altered
A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.
pituicytoma
A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.
Papillary glioneuronal tumour
papillary glioneuronal tumor
A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.
RGNT
Rosette-forming glioneuronal tumour
rosette-forming glioneuronal tumor
A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
Myxoid glioneuronal tumour
myxoid glioneuronal tumor
A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.
Embryonal tumour with multilayered rosettes
embryonal tumor with multilayered rosettes
A mucoepidermoid carcinoma located_in the salivary gland.
salivary gland mucoepidermoid carcinoma
A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
Diffuse leptomeningeal glioneuronal tumour
diffuse leptomeningeal glioneuronal tumor
A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
multinodular and vacuolating neuronal tumor
An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
high-grade astrocytoma with piloid features
A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
Massively Calcified Low Grade Glioma
Polymorphous low-grade neuroepithelial tumour of the young
polymorphous low grade neuroepithelial tumour of the young
A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
spindle cell oncocytoma
A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.
lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
grade I lymphomatoid granulomatosis
A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.
intravascular large B-cell lymphoma
A non-Hodgkin lymphoma of T-cell lineage.
T-cell non-Hodgkin lymphoma
A diffuse large B-cell lymphoma arising from the central nervous system.
primary diffuse large B-cell lymphoma of the central nervous system
A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles.
extraventricular neurocytoma
A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
CNS tumour with BCOR internal tandem duplication
central nervous system tumor with BCOR internal tandem duplication
A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
primary intracranial sarcoma, DICER1-mutant
A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.
Glycogen storage disease 1
deficiency of glucose-6-phosphatase
glycogen storage disease type I
glycogenosis type I
von Gierke disease
von Gierke's disease
glycogen storage disease I
A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
BCOR-Rearranged Sarcoma
sarcoma with BCOR genetic alterations
A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
BCOR ITD sarcoma
A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
BCOR-CCNB3 sarcoma
A sarcoma with BCOR genetic alterations that occurs during childhood.
childhood sarcoma with BCOR genetic alterations
A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
Ewing-Like Sarcoma or Round Cell Sarcoma
Round Cell Sarcoma with EWSR1::non-ETS Fusion
round cell sarcoma with EWSR1-non-ETS fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
childhood round cell sarcoma with EWSR1-non-ETS fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
round cell sarcoma with EWSR1-NFATC2 gene fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
round cell sarcoma with EWSR1-PATZ1 gene fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
round cell sarcoma with FUS-NFATC2 gene fusion
A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
B acute lymphoblastic leukemia with PAX5 P80R mutation
B-lymphoblastic leukaemia with PAX5 p.P80R
B-lymphoblastic leukemia with PAX5 P80R
B-lymphoblastic leukemia with PAX5 p.P80R
A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
B acute lymphoblastic leukemia with DUX4 rearrangement
B-lymphoblastic leukaemia with DUX4 rearrangement
B-lymphoblastic leukemia with DUX4 rearrangement
A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors.
MiT Family Translocation-Associated Renal Cell Carcinoma
MiT family translocation renal cell carcinoma
renal cell carcinoma with MiT translocations
A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.
Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB
Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB
t(6;11) Renal Cell Carcinoma
t(6;11);(p21;q12) Renal Cell Carcinoma
TFEB-rearranged renal cell carcinoma
A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Xp11 Translocation Renal Cell Carcinoma
TFE3-rearranged renal cell carcinoma
A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
childhood renal cell carcinoma with MiT translocations
A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
poorly differentiated chordoma
A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
anaplastic sarcoma of the kidney
A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia).
sickle cell disease
A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.
CASTLE
Carcinoma showing thymus-like differentiation
Carcinoma showing thymus-like element
Intrathyroid thymic carcinoma
Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation
intrathyroid thymic carcinoma
A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.
CMTC
Cribriform Morular Thyroid Gland Carcinoma
Cribriform-Morular Variant Thyroid Gland Papillary Cancer
Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma
Thyroid Gland Cribriform Morular Carcinoma
A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.
mixed medullary and follicular cell-derived carcinomas
thyroid gland mixed medullary and follicular cell-derived carcinoma
A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.
thyroid gland mucinous carcinoma
A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.
SETTLE
Spindle Epithelial Tumor with Thymus-Like Elements
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements
An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.
phytosterolemia
sitosterolemia
A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
lobster-claw deformity
split-hand deformity
split hand-foot malformation
A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
SHFM5
split hand-foot malformation 5
A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
SHFM4
split hand-foot malformation 4
A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
SHFM3
chromosome 10q24 duplication syndrome
distal limb deficiencies with micrognathia
split hand-foot malformation 3
A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
SHFM6
split hand-foot malformation 6
A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
SHFM2
split hand-foot malformation 2
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
ataxia with isolated vitamin E deficiency
familial isolated vitamin E deficiency
familial isolated deficiency of vitamin E
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
6-pyruvoyl-tetrahydropterin synthase deficiency
HPABH4A
PTS deficiency
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
BH4-deficient hyperphenylalaninemia A
A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.
CAMT
congenital amegakaryocytic thrombocytopenic purpura
congenital amegakaryocytic thrombocytopenia
An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
AADC deficiency
aromatic L-amino acid decarboxylase deficiency
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
CORTRD2
cortisone reductase deficiency 2
A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.
CORTRD1
cortisone reductase deficiency 1
An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
cystathionase deficiency
cystathione gamma-lyase deficiency syndrome
gamma-cystathionase deficiency
cystathioninuria
An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI1
osteogenesis imperfecta type I
osteogenesis imperfecta type 1
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
CMD1A
MDC1A
Merosin-negative congenital muscular dystrophy
congenital muscular dystrophy due to laminin alpha2 deficiency
congenital merosin-deficient muscular dystrophy 1A
An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
US1
USH1
Usher syndrome type 1
An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
USH2
Usher syndrome type 2
An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.
USH3
Usher syndrome type 3
An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb.
retinitis pigmentosa-deafness syndrome
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
AR-PKD
autosomal recessive polycystic kidney disease
A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
WS1
Waardenburg syndrome type I
Waardenburg syndrome type 1
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
BDPLT4
GPS
platelet alpha-granule deficiency
platelet-type bleeding disorder 4
gray platelet syndrome
A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
BDPLT17
hereditary thrombasthenia-thrombocytopenia
platelet-type bleeding disorder 17
A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
VWD type 3
VWD3
von Willebrand disease type 3
von Willebrand disease type III
von Willebrand's disease 3
A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.
angioimmunoblastic T-cell lymphoma
A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
IEL
familial ectopia lentis
isolated ectopia lentis
A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.
MCD
PMCD
multicentric giant lymph node hyperplasia
plasmablastic multicentric Castleman disease
multicentric Castleman disease
A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
angiofollicular lymph hyperplasia
angiofollicular lymph node hyperplasia
giant lymph node hyperplasia
lymphoid hamartoma
Castleman disease
A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
HeCo
band heterotopia
double cortex syndrome
heterotopic cortex
subcortical laminar heterotopia
subcortical band heterotopia
An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.
HMN I
autosomal dominant distal juvenile spinal muscular atrophy type 1
dHMN1
distal hereditary motor neuronopathy type 1
distal hereditary motor neuropathy type I
spinal Charcot-Marie-Tooth disease 1
autosomal dominant distal hereditary motor neuronopathy 1
A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
CNMX
MTM1
X-linked myotubular myopathy
XLCNM
XLMTM
myotubular myopathy 1
centronuclear myopathy X-linked
A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
ACN
BANF
NF2
NF2-related schwannomatosis
SWN3
SWNV
acoustic neurofibromatosis
bilateral acoustic neurinoma
bilateral acoustic neurofibromatosis
bilateral acoustic schwannomas
central neurofibromatosis
familial acoustic neuromas
neurofibromatosis 2
neurofibromatosis type II
schwannomatosis 3
vestibular schwannomatosis
A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
NF1
Peripheral Neurofibromatosis
Recklinghausen's neurofibromatosis
neurofibromatosis type I
von Recklinghausen Disease
neurofibromatosis 1
A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
cerebral, ocular, dental, auricular, and skeletal syndrome
cerebro-oculo-dento-auriculo-skeletal syndrome
CODAS syndrome
A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
MTPD
TFP deficiency
TFPD
mitochondrial trifunctional protein deficiency
A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
Faisalabad histiocytosis
H syndrome
HJCD
PHID
Rosai–Dorfman disease
SHML
cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
familial Rosai-Dorfman disease
histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
histiocytosis with joint contractures and sensorineural deafness
pigmented hypertrichosis with insulin-dependent diabetes mellitus
sinus histiocytosis and massive lymphadenopathy
histiocytosis-lymphadenopathy plus syndrome
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
JWS
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Jackson-Weiss syndrome
A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
FLHS
Floating-Harbor syndrome
A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
Congenital pigmented nevus
GMN
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
LCMN
large congenital melanocytic nevus
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
HALP1
hyperalphalipoproteinemia 1
A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
FADS
Pena-Shokeir syndrome type 1
arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
fetal akinesia sequence
foetal akinesia deformation sequence syndrome
foetal akinesia sequence
fetal akinesia deformation sequence syndrome
A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
MPS1H/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
mucopolysaccharidosis Ih/s
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
Dysostosis multiplex syndrome
Hurler disease MPS type 1H
Hurler-Pfaundler syndrome
L-iduronidase deficiency, Hurler type
MPS1-H
Mucopolysaccharidosis type I severe form
dysostosis multiplex
gargoylism
mucopolysaccharidosis Ih
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
GALNS deficiency
MPS IVA
MPS4A
Morquio A disease
Morquio syndrome A
mucopolysaccharidosis IVA
A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
MPS IVB
MPS4B
Morquio disease type B
Morquio syndrome B
beta-D-galactosidase deficiency
mucopolysaccharidosis type IVB (Morquio)
mucopolysaccharidosis type IVB
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
HGSNAT deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
MPS3C
MPSIIIC
Mucopolysaccharidosis type 3C
Sanfilippo syndrome type C
mucopolysaccharidosis type IIIC (Sanfilippo C)
mucopolysaccharidosis type IIIC
A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
MPS3B
MPSIIIB
Mucopoly-saccharidosis type 3B
Mucopolysaccharidosis type 3B
N-acetyl-alpha-glucosaminidase deficiency
NAGLU deficiency
Sanfilippo syndrome type B
mucopolysaccharidosis type IIIB (Sanfilippo B)
mucopolysaccharidosis type IIIB
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
MPS3A
MPSIIIA
Sanfilippo syndrome type A
heparan sulfamidase deficiency
mucopolysaccharidosis III-A
mucopolysaccharidosis type 3A
mucopolysaccharidosis type IIIA (Sanfilippo A)
mucopolysaccharidosis type IIIA
A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
CDA IV
CDA due to KLF1 mutation
CDA type 4
CDA type IV
CDAN4
Congenital dyserythropoietic anaemia due to KLF1 mutation
Congenital dyserythropoietic anaemia type 4
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 4
congenital dyserythropoietic anaemia type IV
congenital dyserythropoietic anemia type IVa
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
CDA II
CDA type 2
CDA type II
CDAN2
Congenital dyserythropoietic anaemia type 2
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
SEC23B-CDG
congenital dyserythropoietic anaemia type II
congenital dyserythropoietic anemia type II
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
GNS deficiency
MPS IIID
MPS3D
Mucopolysaccharidosis type 3D
N-acetylglucosamine-6-sulfatase deficiency
Sanfilippo syndrome D
Sanfilippo syndrome type D
mucopolysaccharidosis type IIID
A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
EPM7
MEAK
Myoclonus epilepsy and ataxia due to potassium channel mutation
PME type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
Progressive myoclonus epilepsy type 7
progressive myoclonus epilepsy 7
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
GALT deficiency
galactose-1-phosphate uridyltransferase deficiency
galactosemia type 1
classic galactosemia
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.
COXPD1
early fatal progressive hepatoencephalopathy
hepatoencephalopathy due to COXPD1
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
combined oxidative phosphorylation deficiency 1
A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.
LPHDST
lymphedema with distichiasis
lymphedema-distichiasis syndrome
An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
MRSHS
deafness, myopia, cataract, saddle nose-Marshall type
Marshall syndrome
A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.
melanoma-astrocytoma syndrome
melanoma and neural system tumor syndrome
A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
metatropic dwarfism
metatropic dysplasia
A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
Mullerian duct failure and hyperandrogenism
WNT4 deficiency
Mullerian aplasia and hyperandrogenism
An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
ONH
familial bilateral optic nerve hypoplasia
isolated optic nerve hypoplasia/aplasia
bilateral optic nerve hypoplasia
A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
MCTO
autosomal dominant multicentric osteolysis
hereditary osteolysis of carpal bones with or without nephropathy
idiopathic multicentric osteolysis with or without nephropathy
multicentric carpo-tarsal osteolysis with or without nephropathy
multicentric osteolysis nephropathy
multicentric carpotarsal osteolysis syndrome
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
POH
ectopic ossification familial type
familial ectopic ossification
osteoma cutis
progressive osseous heteroplasia
An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.
PEPD
PEXPD
familial rectal pain
submandibular, ocular and rectal pain with flushing
paroxysmal extreme pain disorder
A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.
Eulenburg disease
PMC
Von Eulenburg paramyotonia congenita
myotonia congenita intermittens
paralysis periodica paramyotonica
paramyotonia congenita
paramyotonia congenita of Von Eulenburg
An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
hyperimidodipeptiduria
imidodipeptidase deficiency
peptidase deficiency
prolidase deficiency
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
SSKS
stiff skin syndrome
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
encephalofacial angiomatosis
encephalotrigeminal angiomatosis
fourth phacomatosis
leptomeningeal angiomatosis
meningeal capillary angiomatosis
Sturge-Weber syndrome
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
Abortive cerebellar ataxia (BEHRS)
BEHRS
optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
optic atrophy, infantile hereditary, Behr complicated form of
Behr syndrome
A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.
anaphylotoxin inactivator deficiency
deficiency of carboxypeptidase B
carboxypeptidase N deficiency
A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Malouf syndrome
Najjar syndrome
cardiogenital syndrome
cardiomyopathy eith primary testicular failure
congestive cardiomyopathy with hypergonadotropic hypogonadism
dilated cardiomyopathy with hypergonadotropic hypogonadism
dilated cardiomyopathy with premature ovarian failure
genital anomaly with cardiomyopathy
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.
CACT deficiency
CACTD
carnitine-acylcarnitine translocase deficiency
A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
Beals syndrome
Beals-Hecht syndrome
CCA
arachnodactyly, contractural Beals type
contractures, multiple with arachnodactyly
distal arthrogryposis type 9
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
congenital contractural arachnodactyly
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
craniocarpotarsal dysplasia
craniocarpotarsal dystrophy
whistling face syndrome
whistling face-windmill vane hand syndrome
Freeman-Sheldon syndrome
A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
Temtamy-Shalash syndrome
craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
dysmorphism, corpus callosum agenesis and colobomas
Temtamy syndrome
A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
CSID
SI deficiency
congenital sucrase-isomaltose malabsorption
congenital sucrose intolerance
disaccharide intolerance
congenital sucrase-isomaltase deficiency
A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
CST syndrome
Christ-Siemens-Touraine syndrome
ED1
HED1
X-linked anhidrotic ectodermal dysplasia
XHED
XLHED
ectodermal dysplasia 1, anhidrotic
ectodermal dysplasia 1, hypohidrotic, X-linked
ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
hypohidrotic ectodermal dysplasia, X-Linked
ectodermal dysplasia 1
A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
HFS
inherited systemic hyalinosis
puretic syndrome
systemic hyalinosis
hyaline fibromatosis syndrome
A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
HP1
alanine-glyoxylate aminotransferase deficiency
glycolic aciduria
hepatic AGT deficiency
oxalosis I
peroxisomal alanine-glyoxylate aminotransferase deficiency
serine pyruvate aminotransferase deficiency
primary hyperoxaluria type 1
A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
D-glycerate dehydrogenase deficiency
HP2
L-glyceric aciduria
glyoxylate reductase/hydroxypyruvate reductase deficiency
oxalosis II
primary hyperoxaluria type 2
A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
HP3
PH III
primary hyperoxaluria type III
primary hyperoxaluria type 3
A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
Fitzgerald trait
HMWK deficiency
congenital high-molecular-weight kininogen deficiency
high molecular weight kininogen deficiency
A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.
congenital defect of folate absorption
congenital folate malabsorption
hereditary folate malabsorption
A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
11p11.2 deletion
PSS
proximal 11p deletion syndrome
Potocki-Shaffer syndrome
A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Albright's hereditary osteodystrophy-like syndrome
BDMR
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
deletion 2q37
monosomy 2q37qter
chromosome 2q37 deletion syndrome
A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
Temple syndrome
A physical disorder characterized by ocular dysplasia with eyelid malformation.
cryptophthalmos
cryptophthalmia
A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
FEPS3
familial episodic pain syndrome 3
A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
CVD1
Dystrophie valvulaire associee a FLNA
EDS5
Ehlers-Danlos syndrome, type 5
FLNA-related X-linked myxomatous valvular dysplasia
FLNA-related valvular dystrophy
Filamin A-related X-linked myxomatous valvular dysplasia
XMVD
X-linked cardiac valvular dysplasia
A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
GATA1-related X-linked cytopenia
XLTT
beta-thalassemia-X-linked thrombocytopenia syndrome
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
X-linked thrombocytopenia with beta-thalassemia
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
OPD I syndrome
OPD syndrome 1
OPD1
Taybi syndrome
oto-palato-digital syndrome type 1
otopalatodigital syndrome type I
otopalatodigital syndrome type 1
A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
KPTS
nasodigitoacoustic syndrome
Keipert syndrome
A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
TTD
trichothiodystrophy
A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
TTD5
nonphotosensitive trichothiodystrophy 5
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
TTD1
photosensitive trichothiodystrophy 1
A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
neonatal severe encephalopathy due to MECP2 mutations
severe neonatal-onset encephalopathy with microcephaly
severe congenital encephalopathy due to MECP2 mutation
A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
GSD due to phosphoglycerate kinase 1 deficiency
PGK1 deficiency
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
glycogenosis due to phosphoglycerate kinase 1 deficiency
phosphoglycerate kinase 1 deficiency
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
APDS
IMD14
PASLI disease
activated PI3K-delta syndrome
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
immunodeficiency 14
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
IMD22
SCID due to LCK deficiency
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
severe combined immunodeficiency due to LCK deficiency
severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
immunodeficiency 22
A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
DCML
GATA2 deficiency
IMD21
MonoMAC
combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
dendritic cell, monocyte, B and NK lymphoid deficiency
monocyte-B-natural killer-dendritic cell deficiency syndrome
monocytopenia and mycobacterial infection syndrome
monocytopenia with susceptibility to infections
immunodeficiency 21
A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
IMD36
activated phosphoinositide 3-kinase delta syndrome 2
immunodeficiency-36 with lymphoproliferation
immunodeficiency 36
A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
DOCK2 deficiency
IMD40
immunodeficiency 40
A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.
CID due to PGM3 deficiency
IMD23
PGM3-CDG
PGM3-related congenital disorder of glycosylation
combined immunodeficiency due to PGM3 deficiency
immunodeficiency 23
A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
IMD11B
atopic dermatitis, elevated IgE, and eosinophilia
immunodeficiency 11B with atopic dermatitis
immunodeficiency 11B
A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
IMD26
SCID due to DNA-PKcs deficiency
immunodeficiency 26, with or without neurologic abnormalities
severe combined immunodeficiency due to DNA-PKcs deficiency
immunodeficiency 26
A primary immunodeficiency disease that involves multiple components of the immune system.
combined immunodeficiency
A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
IMD54
NKCD
familial isolated natural killer cell deficiency
primary immunodeficiency due to MCM4 deficiency
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
immunodeficiency 54
A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.
IMD30
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
immunodeficiency 30
A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
SCNX
XLN
X-linked severe congenital neutropenia
A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
SEMD X-linked
SEMDX
X-linked spondyloepimetaphyseal dysplasia
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
xeroderma pigmentosum with neurologic manifestation
De Sanctis-Cacchione syndrome
An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.
CPP
gonadotropin-dependant precocious puberty
central precocious puberty
An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
High Frequency Hearing Loss
High frequency deafness
Perceptive deafness
Perceptive hearing loss
Perceptive hearing loss or deafness
Sensorineural Deafness
Sensory hearing loss
central hearing loss
high-frequency hearing loss
sensorineural hearing loss
A thyroid gland cancer that has_material_basis_in lymphocytes.
thyroid lymphoma
A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
MEN type IIB
MEN2B
Multiple endocrine neoplasia, type 3
Wagenmann-Froboese syndrome
mucosal neuroma syndrome
multiple endocrine neoplasia type 2B
A multiple endocrine neoplasia 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.
MEN type I
Wermer syndrome
Wermer's syndrome
multiple endocrine neoplasia type 1
An endometrial disease that is characterized by inflammation of the endometrium.
endometritis
A duodenum cancer that is located_in the ampulla of Vater.
malignant tumour of ampulla of vater
ampulla of Vater cancer
A small intestine cancer that is located_in the beginning section of the small intestine.
Duodenal cancer
cancer of duodenum
duodenal neoplasm
duodenum cancer
A duodenal benign neoplasm that is located_in the ampulla of Vater.
tumor of the ampulla of Vater
ampulla of Vater benign neoplasm
A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
classic migraine
migraine with aura
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.
Posterior spinal sclerosis
Tabes dorsalis - neurosyphilis
tabes dorsalis
A female reproductive system disease that is characterized by an infection of the female reproductive organs.
PID
pelvic inflammatory disease
A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.
pulmonary interstitial emphysema
A skin melanoma that arises from the upper or lower eyelid.
malignant eyelid melanoma
A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.
balloon cell malignant melanoma
A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
nodular melanoma
nodular malignant melanoma
A uterine disease that is located_in the endometrium.
endometrial disease
A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.
skin amelanotic malignant melanoma
skin amelanotic melanoma
A laryngeal benign neoplasm that is located_in the subglottic area of the larynx.
Subglottic tumor
subglottis benign neoplasm
A laryngeal benign neoplasm that derives_from smooth muscle cells.
larynx leiomyoma
A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness.
Laryngeal Squamous Cell Papilloma
larynx squamous papilloma
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.
Hymenolepis infectious disease
dwarf tapeworm infection
hymenolepiasis
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.
Diphyllobothrium infection
fish tapeworm
diphyllobothriasis
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.
Pork tapeworm infection
Tapeworm infection intestinal taenia solum
Tapeworm infection pork
intestinal taenia solium infection
neurocysticercosis
tenia solium infectious disease
cysticercosis
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.
Infection by Sparganum
sparganosis
A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
leiomyoma of the stomach
gastric leiomyoma
A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
intracranial abscess
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.
African sleeping sickness
African trypanosomiasis
sleeping sickness
An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
corneal disease
A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
conical cornea
keratoconus
A vein disease that is characterized by impaired flow of blood through the veins.
peripheral venous insufficiency
venous insufficiency
A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
Functional vaginismus
Non-organic vaginismus
Psychogenic Vaginismus
psychologic vaginismus
A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
Conjunctival xerosis
xerophthalmia
A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
Tear film insufficiency
dry eye disease
dry eye syndrome
A thymus cancer that arises from the thymus.
thymus lymphoma
An intestinal cancer that is located_in the small intestine.
small intestine cancer
A gastrointestinal system cancer that is located_in the intestine.
malignant intestinal tumors
malignant neoplasm of intestine
intestinal cancer
A small intestine benign neoplasm that affects the wall of the ileum.
Ileal tumor
NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS]
benign ileal neoplasm
An ischemic bone disease that results_in necrosis located_in bone.
Avascular necrosis of bone
aseptic necrosis
bone necrosis
osteonecrosis
An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.
papillitis
optic papillitis
A lipoma that is located within the lumen of a bronchus.
endobronchial lipoma
A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
spindle cell lipoma
A lipoma located in the esophagus.
Lipoma of esophagus
esophageal lipoma
A skin benign neoplasm that derives_from fat cells.
Cutaneous Lipoma
Lipoma of skin
cutaneous lipomatous tumor
lipoma of face
skin lipoma
A lipoma located in the liver.
Lipoma of the Liver
hepatic lipoma
liver lipoma
A lipoma that is characterized by floret giant cells with overlapping nuclei.
pleomorphic lipoma
A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
classic type lipoma
conventional lipoma
A lipoma that is located in the kidney.
Lipoma of kidney
kidney lipoma
A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura.
Lipoma of Pleura
pleural lipoma
A breast benign neoplasm that is composed of lipocytes.
Lipoma of breast
breast lipoma
A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall.
Lipoma of the Chest Wall
chest wall lipoma
A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells.
Lipoma of the gallbladder
gallbladder lipoma
An auditory system benign neoplasm that is located in the external ear.
Lipoma of external auditory meatus
Lipoma of the External ear
external auditory meatus lipoma
external ear lipoma
An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
Lipoma of axilla
axillary lipoma
A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells.
Spermatic Cord Lipoma
lipoma of spermatic cord
A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region.
paratesticular lipoma
A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
chondroid lipoma
A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells.
Lipoma of the extrahepatic bile duct
extrahepatic bile duct lipoma
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.
pinta disease
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.
Polymyositis with skin involvement
dermatopolymyositis
Amyopathic dermatomyositis
MESH:C538250 added from NeuroDevNet [WAK].
dermatomyositis
A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
exhibitionism
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.
leprosy
A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
Sickle-cell thalassemia with crisis
Sickle-cell thalassemia without crisis
thalassemia Hb-S disease with crisis
thalassemia Hb-S disease without crisis
thalassemia
An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
discharging ear
otorrhea
A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), 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.
mumps
A male reproductive organ cancer that is located_in the prostate.
NGP - new growth of prostate
hereditary prostate cancer
malignant tumor of the prostate
prostate cancer, familial
prostate neoplasm
prostatic cancer
prostatic neoplasm
tumor of the prostate
prostate cancer
A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of prostate
carcinoma of prostate
prostate carcinoma
A squamous cell carcinoma that is located_in the prostate.
prostate squamous cell carcinoma
A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.
malignant Phyllodes neoplasm of the prostate
prostate malignant phyllodes tumor
A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
familial periodic paralysis
A prostate cancer that affects lymphocytes and arises from the prostate gland.
lymphoma of prostate
prostate lymphoma
A parotid disease characterized by the inflammation of one or both parotid glands.
parotitis
A salivary gland disease that is characterized as an infection of the salivary glands.
Sialoadenitis
sialadenitis
A meningitis that has_material_basis_in a viral infection.
viral meningitis
A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
endocarditis
An interstitial lung disease that is caused by the inhalation of dust.
pneumoconiosis
A pneumoconiosis caused by the inhalation of mixed mineral dust particles.
mixed mineral dust pneumoconiosis
A pneumoconiosis caused by inhalation and retention of asbestos fibers.
asbestosis
A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
baritosis
A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
Flax-dressers' disease
Stripper's asthma
cotton mill fever
byssinosis
A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.
anthracosilicosis
A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
Pneumoconiosis due to silicates
Silica pneumoconiosis
Silicotic fibrosis of lung
silicotuberculosis
silicosis
A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
Coal Miner's Pneumoconiosis
Coal workers' lung
Coal workers' pneumoconiosis
Melanoedema
black lung
anthracosis
A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
pneumoconiosis due to talc
talc pneumoconiosis
talcosis
pulmonary talcosis
A pneumoconiosis that is caused by exposure to slate dust.
Schistosis
slate pneumoconiosis
A pneumoconiosis that is caused by inhalation of kaolin dust.
Kaolinosis
kaolin pneumoconiosis
A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.
Solitary Cyst of the breast
solitary cyst of breast
A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
aggressive NK-cell leukaemia
large granular Lymphocyte Leukemia, NK-cell type
natural killer cell leukaemia
natural killer cell leukemia
aggressive NK-cell leukemia
A breast benign neoplasm that is characterized by a fluid-filled sac.
Cyst of the breast
breast cyst
A non-proliferative fibrocystic change of the breast that contains scar tissue.
Fibrosis of the breast
fibrosclerosis of breast
A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
Diffuse cystic mastopathy
Fibrocystic disease of breast
breast Fibrocystic Change
breast fibrocystic disease
A leukemia that develops slowly.
CLL
CML
adult chronic leukemia
chronic leukemia
A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.
eosinophilic meningitis
A male reproductive organ cancer that is located in the epididymis.
malignant Epididymal tumor
malignant neoplasm of epididymis
malignant tumor of epididymis
epididymis cancer
An epididymis cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the epididymis
epididymis adenocarcinoma
A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
lymphoblastic leukaemia
lymphoblastic leukemia
lymphocytic leukaemia
lymphoid leukemia
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.
Bouba
frambesia
frambesia tropica
frambosie
polypapilloma tropicum
thymosis
yaws
An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.
lazy eye
amblyopia
A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
PLL
Prolymphocytic leukaemia
prolymphocytic leukemia
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
bacterial infectious disease
A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
B-cell chronic lymphocytic leukaemia
B-cell chronic lymphocytic leukemia
chronic lymphatic leukaemia
chronic lymphatic leukemia
chronic lymphocytic leukaemia
lymphoplasmacytic leukaemia
lymphoplasmacytic leukemia
B-cell chronic lymphoid leukemia
chronic lymphocytic leukemia
acute periodontitis
acute pericementitis
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
Klippel-Feil and Turner syndrome
Klippel-Feil deformity, deafness and facial asymmetry
autosomal dominant Klippel-Feil syndrome
congenital dystrophia brevicollis
congenital synostosis of cervical vertebrae
Klippel-Feil syndrome
hypopyon
An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
Throat infection - tonsillitis
chronic tonsillitis
tonsillitis
A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Infection by Legionella pneumophilia
Legionella
Legionella pneumonia
Legionnaire's disease
Legionnaires' disease
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.
Legionella infection
legionellosis
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.
Acute viral rhinopharyngitis
Nasopharyngitis - acute
Nasopharyngitis, acute
acute coryza
acute nasopharyngitis
acute rhinitis
rhino-sinusitis
common cold
A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
chronic nasopharyngitis
nasopharyngitis
diaphragmatic eventration
Congenital atresia of esophagus
Congenital imperforate esophagus
Imperforate esophagus
Oesophageal atresia
esophageal atresia
intestinal atresia
A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Hirschsprung disease
aganglionic megacolon
congenital megacolon
macrocolon
pelvirectal achalasia
total intestinal aganglionosis
Hirschsprung's disease
Congenital atresia of anus
Congenital or infantile occlusion of anus
anal atresia
imperforate anus
Adrenal Cortical Insufficiency
Corticoadrenal insufficiency
adrenal cortical hypofunction
orbital granuloma
A gastrointestinal system cancer that is located_in the stomach.
gastric cancer
gastric neoplasm
stomach cancer
malignant gastric granular cell tumour
malignant granular cell tumor of stomach
malignant granular cell tumour of stomach
malignant gastric granular cell tumor
Lymphoma of the stomach
gastric lymphoma
Surface gastric cancer
early gastric cancer
microinvasive gastric cancer
Ca pylorus - stomach
malignant neoplasm of Prepylorus
malignant neoplasm of pylorus of stomach
malignant tumor of pylorus
pylorus cancer
A central nervous system disease that involves encephalitis which occurs along with meningitis.
meningoencephalitis
A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
Lowe syndrome
lowe oculocerebrorenal syndrome
oculocerebrorenal syndrome of Lowe
oculocerebrorenal syndrome
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.
Gummata and ulcers due to yaws
Gummata of yaws
Ulcers of yaws
Yaws gummata and ulcers
gummatous frambeside
multiple papillomata due to yaws and wet crab yaws
nodular late yaws
late yaws
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.
Frambesia, initial or primary
Initial frambesial ulcer
Initial lesions of yaws
bone and joint lesions due to yaws
bone and joint yaws lesion
chancre of yaws
primary frambesia
early yaws
A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
osteomalacia
A cerebral degeneration characterized by dysfunction of the white matter of the brain.
leukodystrophy
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
MLD
Scholz cerebral sclerosis
arylsulfatase A deficiency
deficiency of cerebroside-sulfatase
sulfatide lipoidosis
metachromatic leukodystrophy
A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
HMSN type IV
HSMN IV
Heredopathia atactica polyneuritiformis
Refsum's disease
adult Refsum disease
classic Refsum disease
phytanic acid oxidase deficiency
Refsum disease
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
pericentral pigmentary retinopathy
retinitis pigmentosa
Diffuse globoid body sclerosis
GLOBOID CELL LEUKOENCEPHALOPATHY
Galactosylceramide beta-galactosidase deficiency
Krabbe's disease
Krabbe's leukodystrophy
beta galactocerebrosidase deficiency
globoid cell leukodystrophy
Krabbe disease
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.
Bronze Schilder disease
Encephalitis periaxialis concentrica
Encephalitis periaxialis, Schilder's
Siemerling-Creutzfeldt Disease
X-linked adrenoleukodystrophy
diffuse sclerosis
sudanophilic cerebral sclerosis
MESH:D000326w added from NeuroDevNet [WAK].
adrenoleukodystrophy
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.
mental retardation
OMIM mapping submitted by NeuroDevNet. [LS].
intellectual disability
A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
gestational hypertension
hypertension induced by pregnancy
pre-eclamptic toxaemia
preeclampsia
preeclampsia/eclampsia
pregnancy associated hypertension
pregnancy toxemia
proteinuric hypertension of pregnancy
toxaemia of pregnancy
pre-eclampsia
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
CMT - Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease
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.
Pearly disease
Tuberculosis of pleura
Tuberculous pleurisy
Tuberculous pleuritis
tuberculous pleurisy in primary progressive tuberculosis
pleural tuberculosis
An amino acid metabolic disorder that is 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.
Neutral 1 amino acid transport defect
deficiency of tryptophan oxygenase
neutral amino acid transport defect
Hartnup disease
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.
chronic motor or vocal tic disorder
chronic tic disorder
Glucose malabsorption
Malabsorption of glucose
glucose intolerance
A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.
LM - Lactose malabsorption
lactose intolerance
An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
acquired short bowel syndrome
short gut syndrome
short bowel syndrome
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.
Bacterial overgrowth syndrome
blind loop syndrome
Sprue - tropical
Tropical steatorrhea
tropical sprue
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.
celiac sprue
coeliac disease
idiopathic steatorrhea
celiac disease
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.
active rickets
rickets
A cervicitis that is characterized by onset within the past 1 - 3 days.
acute cervicitis
A lymphatic system cancer that is located_in the lymph node.
lymph node neoplasm
lymph node cancer
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Congenital Fanconi syndrome
De Toni-Fanconi syndrome
Fanconi-de Toni syndrome
Fanconi-de-Toni syndrome
Infantile nephropathic cystinosis
Lignac-Fanconi syndrome
adult Fanconi Anemia
adult Fanconi syndrome
deToni Fanconi syndrome
Fanconi syndrome
An eye disease where one or both eyeballs are abnormally small.
microphthalmos
simple microphthalmos
microphthalmia
renal tubulo-interstitial disease
interstitial nephritis
A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
WFS
Wolfram syndrome
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
cystine storage disease
cystinosis
A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
schizotypal personality disorder
A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and 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.
Alzheimer disease
Alzheimers dementia
Alzheimer's disease
Colonic Lipoma
lipoma of colon
Colonic leiomyoma
colon leiomyoma
Lymphangioma of colon
colonic lymphangioma
A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
neuroblastoma of mediastinum
mediastinum neuroblastoma
Ganglioneuroblastoma of mediastinum
mediastinum ganglioneuroblastoma
A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
Wide-angle glaucoma
glaucoma simplex
open angle glaucoma
pigmentary glaucoma
open-angle glaucoma
A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands.
Galactocele
lactocele
A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
breasts enlarged
large breast
hypertrophy of breast
A breast disease characterized by painful infection of the breast tissue.
Inflammatory breast disease
Inflammatory disease of breast
breast inflammation
mastitis
A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
breast Fat necrosis
fat necrosis of breast
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.
Infection by Paragonimus
lung fluke disease
lung fluke infection
pulmonary paragonimiasis
paragonimiasis
An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
chronic simple glaucoma
primary open angle glaucoma
renal hypertension
A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
renal failure
kidney failure
A uterine adnexa cancer that is located_in the broad ligament.
malignant neoplasm of broad ligament of uterus
broad ligament malignant neoplasm
A otitis which involves inflammation of the middle ear.
otitis media
chronic pyelonephritis
portal hypertension
An artery disease characterized by chronic elevated blood pressure in the arteries.
HTN
hyperpiesia
vascular hypertensive disorder
hypertensive disease
hypertension
Moschcowitz's syndrome
thrombotic thrombocytopenic purpura
A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
Familiar Polycythemia
familial erythrocytosis
primary polycythemia
Mesenteric adenitis
mesenteric lymphadenitis
methemoglobinemia
An ovarian dysfunction that is the loss of normal ovarian function before age 40.
Menopause - premature
Menopause praecox
premature menopause
A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
chronic frontal sinusitis
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.
frontal sinusitis
A maxillary sinusitis which lasts for 12 weeks or more.
chronic antritis
chronic maxillary sinusitis
A sphenoid sinusitis which lasts for 12 weeks or more.
Sphenoidal sinus-chr.
chronic sphenoidal sinusitis
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.
Sphenoidal sinusitis
sphenoid sinusitis
A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
disease due to superfamily Filarioidea
filariasis
acute gastric ulcer with haemorrhage and perforation
acute gastric ulcer with hemorrhage AND with perforation but without obstruction
acute gastric ulcer with hemorrhage and obstruction
acute gastric ulcer with hemorrhage and perforation
acute gastric ulcer with hemorrhage and perforation, with obstruction
acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
acute gastric ulcer with hemorrhage, with obstruction
acute gastric ulcer with hemorrhage, with perforation AND with obstruction
acute gastric ulcer with perforation
acute gastric ulcer with perforation AND obstruction
acute gastric ulcer with perforation, with obstruction
acute gastric ulcer without hemorrhage and without perforation
acute gastric ulcer without hemorrhage, without perforation AND without obstruction
acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
bleeding acute gastric ulcer
chronic gastric ulcer without hemorrhage AND without perforation
chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
gastric ulcer
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.
mansonelliasis
A respiratory system cancer that is located_in the nasal cavity.
malignant neoplasm of nasal cavities
malignant tumor of the nasal cavity
nasal cavity cancer
Olfactory neuroblastoma of the nasal cavity
nasal cavity olfactory neuroblastoma
Lymphoma of the nasal cavity
lymphoma of nasal cavity
nasal cavity lymphoma
A duodenum cancer that derives_from epithelial cells of glandular origin.
Duodenal adenocarcinoma
duodenum adenocarcinoma
sexual sadism
Accelerated essential hypertension
malignant essential hypertension
A hypertension that is characterized by rapid onset of extremely high blood pressure.
malignant hypertension
A hypertension with no known cause. It is the most common type of hypertension.
idiopathic hypertension
primary hypertension
essential hypertension
voyeurism
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), 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.
WEE
Western equine encephalitis
A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), 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.
Japanese B encephalitis
Japanese encephalitis
sexual masochism
A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
Complete trisomy 18 syndrome
E3 Trisomy
trisomy 18
Edwards syndrome
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.
Cholesterin granuloma
Cholesterin granuloma of middle ear
middle ear cholesterol granuloma
A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
Abducens nerve weakness
Lateral rectus muscle denervation paresis
Lateral rectus muscle innervation disorder
Sixth cranial nerve disorder
Sixth nerve palsy
VIth nerve Paralysis
VIth nerve disorder
abducens nerve disease
abducens palsy
abducens nerve palsy
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.
Age Related Maculopathies
Age Related Maculopathy
Senile macular degeneration
Senile macular retinal degeneration
age-related macular degeneration
age related macular degeneration
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), 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.
HFMD
Vesicular stomatitis and exanthem
hand, foot and mouth disease
spinal dysraphism
tethered spinal cord syndrome
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
familial hypospadias
hypospadias
A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
Microcephalus
microencephaly
microcephaly
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
hydrocephalus, X-linked
hydrocephalus, nonsyndromic, autosomal recessive
hydrocephalus
benign essential hypertension
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.
Amnestic syndrome
Korsakoff's psychosis or syndrome
amnesia
amnestic disorder
A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
Korsakoff Syndrome
Korsakoff's psychosis
Korsakoff's syndrome
Korsakov psychosis
Korsakov's psychosis
Wernicke-Korsakoff syndrome
A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
Hb SC disease
Hb-S/Hb-C disease
Hb-SS disease without crisis
HbSS disease
Hemoglobin S disease without crisis
Sickle-cell/Hb-C disease without crisis
drepanocytosis
haemoglobin SC disease
hemoglobin SC disease
homozygous sickle cell disease
sickle cell anaemia
sickle cell anemia
A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
borderline personality disorder
A personality disorder that is characterized by a pervasive psychological dependence on other people.
dependent personality disorder
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.
OCPD
Anankastic personality disorder
obsessive-compulsive personality disorder
An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
Anancastic neurosis
obsessive compulsive disorder
obsessive-compulsive disorder
A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
Dissociative identity disorder
multiple personality disorder
A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
dissociative disease
dissociative reaction
dissociative disorder
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.
schizoid personality disorder
A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
impulse control disorder
A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
paranoid personality disorder
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.
Asocial personality
Dissocial personality disorder
Psychopath.personality
Psychopathic personality
Psychopathic personality disorder
sociopathic personality
antisocial personality disorder
brain aneurysm
intracranial aneurysm
A mouth disease located_in the tongue.
tongue disease
A kidney disease that is characterized by an inflammation of the kidneys.
nephritis
A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
Infection by Strongyloides
disseminated strongyloidiasis
strongyloidiasis
Cholesteatoma of middle ear and mastoid
Cholesteatoma of middle ear and/or mastoid
Cholesteatoma of the middle ear
Epidermosis of ear
Epidermosis of middle ear
middle ear cholesteatoma
cholesteatoma of middle ear
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.
Diplegic infantile cerebral palsy
Infantile spastic cerebral palsy
Little's disease
Littles disease
cerebral spastic infantile paralysis
infantile diplegic cerebral palsy
spastic diplegia
Minimal Change Glomerulonephritis
Minimal change disease
Nephrotic syndrome with lesion of minimal change glomerulonephritis
Nephrotic syndrome with lesion of minimal change nephrotic syndrome
lipoid nephrosis
Salpingitis/oophoritis
Tubo-ovarian inflammatory disease
salpingo-oophoritis
acute salpingitis
membranous nephropathy
membranous glomerulonephritis
A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
EF - Erythroblastosis foetalis
Haemolytic disease due to rhesus isoimmunisation
Hemolytic disease of the fetus and newborn
alloimmune HDFN
erythroblastosis fetalis
fetal erythroblastosis
rhesus isoimmunisation of the newborn
hemolytic disease of the fetus
Conjunctival vascular abnormality
vascular abnormalities of conjunctiva
conjunctival vascular disease
A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
Alpha thalassaemia
alpha-Thalassemia
alpha thalassemia
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.
AHL
Weston-Hurst syndrome
acute haemorrhagic leucoencephalitis of Weston Hurst
acute hemorrhagic encephalomyelitis
acute necrotizing hemorrhagic leukoencephalitis
acute hemorrhagic leukoencephalitis
An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
lens disease
A female reproductive system disease that is located_in the ovary.
ovarian disease
pinguecula
Corneal oedema
corneal edema
bullous keratopathy
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.
psychogenic amnesia
dissociative amnesia
A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
Neurotic derealization
depersonalization disorder
An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia.
Felty syndrome
Rheumatoid arthritis with splenoadenomegaly and leukopenia
Felty's syndrome
gastroschisis
A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
Neonatal aspiration of meconium
meconium aspiration
meconium aspiration syndrome
An urinary system cancer that results_in malignant growth located_in the urinary bladder.
bladder cancer
tumor of the bladder
urinary bladder cancer
Lymphoma of esophagus
Lymphoma of oesophagus
oesophagus lymphoma
esophagus lymphoma
A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
placenta praevia
A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of esophagus
cancer of oesophagus
carcinoma of esophagus
carcinoma of oesophagus
esophageal carcinoma
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.
Maltese fever
undulant fever
Bang's disease
Gibraltar fever
Malta fever
Mediterranean fever
brucellosis
melanoma of esophagus
melanoma of oesophagus
oesophagus melanoma
esophagus melanoma
A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
Infestation by fly larvae
Infestation by maggots
Maggot infestation
myiasis
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.
Infection due to Coxiella burnetii
Q fever
A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
Bartonella infectious disease
Rochalimaea infection
bartonelliasis
bartonellosis
An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.
hydronephrosis
A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
Guinon's disease
Psychogenic tics
Tourette syndrome
motor-verbal tic disorder
Gilles de la Tourette syndrome
A dental pulp disease characterized by inflammation.
pulp stones
pulpitis
A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
Allergic purpura
Autoimmune purpura
HSP
Henoch Schoenlein purpura
Henoch Scholein purpura
Henoch Schonlein purpura
Henoch Schönlein purpura
Henoch-Schoenlein purpura
Henoch-Scholein purpura
Henoch-Schonlein purpura
Henoch-Schönlein purpura
IgAV
Purpura, autoimmune
immunoglobulin A vasculitis
IgA vasculitis
secondary hypertension
An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
esophageal sarcoma
esophagus sarcoma
cholecystolithiasis
A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
Oligohidrosis
hypohidrosis
A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
Adiaphoresis
absence of sweating
anhidrosis
A lung disease characterized by inadequate gas exchange by the respiratory system.
acute and chronic respiratory failure
acute respiratory Failure
acute-on-chronic respiratory failure
chronic respiratory failure
respiratory insufficiency/failure
respiratory failure
Band-shaped keratopathy
band keratopathy
A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
common wart
A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or 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.
Anogenital Human papilloma Virus Infectious Disease
Anogenital warts
Genital warts
genital wart virus infectious disease
venereal wart
Condyloma acuminatum
anogenital venereal wart
enophthalmos
pulp degeneration
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.
pseudomembranous conjunctivitis
A synostosis that results_in the fusion of two or more digits.
symphalangism
symphalangy
webbing of digits
syndactyly
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
22q11.2 deletion syndrome
DiGeorge sequence
DiGeorge's syndrome
Pharyngeal pouch syndrome
DiGeorge syndrome
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.
hypoparathyroidism
Bleeding esophageal varices
Bleeding oesophageal varices
esophageal varices
esophageal varices in disease classified elsewhere, with bleeding
esophageal varices with bleeding
esophageal varices with bleeding in disease EC
esophageal varices without bleeding
esophageal varices without mention of bleeding
esophageal varix
A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
T cell immunodeficiency
T lymphocyte deficiency
T lymphocyte immunodeficiency
T cell deficiency
An endocrine system disease that is located_in the parathyroid gland.
disease of parathyroid glands
parathyroid gland disease
A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
familial primary hyperparathyroidism
primary hyperparathyroidism
Angelucci syndrome
acute atopic conjunctivitis
Angelucci's syndrome
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.
allergic conjunctivitis
A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
hydrophthalmos
A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
Contagious opthalmia
Pink eye
Pinkeye
acute contagious conjunctivitis
A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), 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.
Apollo disease
Epidemic hemorrhagic conjunctivitis
viral conjunctivitis
acute hemorrhagic conjunctivitis
An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
orbital cellulitis
A intestinal cancer that is located_in the appendix.
cancer of the appendix
malignant neoplasm of appendix vermiformis
malignant tumor of appendix
malignant tumor of the appendix
appendix cancer
appendix neoplasm
neoplasm of appendix
appendiceal neoplasm
Appendiceal Lymphoma
appendix lymphoma
Neonatal polycythemia
plethora of newborn
A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks.
anemia of prematurity
Disseminated intravascular coagulation in newborn
DIC in newborn
DIC
Defibrination syndrome
Diffuse or disseminated intravascular coagulation
disseminated intravascular coagulation
A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
deficiency of vitamin K
vitamin K deficiency
vitamin K deficiency hemorrhagic disease
vitamin K deficiency bleeding
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.
Endemic Typhus fever
Exanthematic Typhus fever
Flea typhus
Louse-borne [epidemic] typhus
Moscow typhus
Murine [endemic] typhus
Typhus fever
endemic flea-borne typhus
epidemic louse-borne typhus
Classical typhus
Epidemic (louse-borne) typhus
Epidemic louse-borne typhus fever due to Rickettsia prowazekii
European typhus
Exanthematous typhus
Famine fever
Flea-borne rickettsiosis
Flea-borne typhus
Hospital fever
Jail fever
Louse-borne rickettsiosis
Louse-borne typhus
Mexican typhus
Murine typhus
Petechial fever
Prison fever
Rat flea typhus
Ship fever
Shop typhus
Typhus exanthematique
Urban typhus
typhus
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.
social phobia
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.
Debre's Syndrome
Debre-Mollaret Syndrome
Foshay-Mollaret Cat Scratch Fever
benign lymphoreticulosis
cat scratch fever
cat-scratch disease
A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are 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. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs.
Lyssa
rabies
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.
psittacosis
ornithosis
A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, 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 proteinuria, and has symptom renal failure.
HFRS
Hemorrhagic fever, Russian
Hemorrhagic nephrosonephritis
Puumala virus nephropathy
hemorrhagic fever renal syndrome
Hantavirus hemorrhagic fever with renal syndrome
Plummer disease
toxic nodular goiter
Plummer's disease
pituitary apoplexy
A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
Arteriovenous hemangioma
Cirsoid aneurysm
Racemose Angioma
Racemose aneurysm
Racemose hemangioma
arteriovenous malformation
Pituitary infarction
pituitary infarct
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.
Cutaneous schistosomiasis
Sea bather's eruption
cercarial dermatitis
Mobitz (type) II atrioventricular block
Mobitz II atrioventricular block
Mobitz type II atrioventricular block
A psychotic disorder that involves schizophrenia symptoms over time period of one month.
schizophreniform disorder
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.
Dactylolysis spontanea
ainhum
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Boeck sarcoid
lymphogranulomatosis
sarcoidosis
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.
Infection due to Clostridium tetani
clostridial tetanus
tetanus
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.
Pneumocystis carinii pneumonia
Pneumocystis jirovecii pneumonia
Pneumocystis pneumonia
Pneumocystosis pneumonia
pulmonary pneumocystosis
pneumocystosis
Gingival recession, localized
localized gingival recession
minimal gingival recession
moderate gingival recession
severe gingival recession
gingival recession
An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
scleral disease
A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen.
Diverticulum - bladder
Diverticulum of bladder
bladder diverticulum
Subluxation of lens
lens subluxation
APHAKIA, CONGENITAL PRIMARY
Congenital absence of lens
congenital aphakia
A colonic disease that is characterized by an abnormal dilation of the colon.
Dilatation of colon
megacolon
A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
Gnathostomiasis
Infectious Disease by Gnathostoma
gnathomiasis
Spinal Cord meningioma
spinal meningioma
Cryptorchism
Undescended testicle
Undescended testis
undescended testicles
cryptorchidism
A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
Developmental expressive language disorder
expressive language disorder
A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
ARDS
Non-cardiogenic pulmonary edema
Shock lung
acute respiratory distress syndrome
adult RDS
adult respiratory distress syndrome
A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.
pulmonary edema
A cardiovascular system disease that involves the heart.
heart disease
spinal canal and spinal cord meningioma
pyelonephritis
xanthogranulomatous pyelonephritis
choroiditis
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.
Endometriosis of fallopian tube
fallopian tube endometriosis
A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
endosalpingiosis
Divergent Strabismus
Divergent concomitant strabismus
exotropia
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
ovarian endometriosis
endometriosis of ovary
benign intracranial hypertension
idiopathic intracranial hypertension
pseudotumor cerebri
Ca larynx - subglottis
malignant Subglottic tumor
malignant tumor of subglottis
subglottis cancer
A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
osteoporosis
A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
postaxial polydactyly
Supernumerary digit
polydactyly
constrictive pericarditis
A pericardial effusion that results from blood in the pericardial sac.
Haemopericardium
hemopericardium
An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
Bernard Horner syndrome
Horner syndrome
cervical sympathetic paralysis
Horner's syndrome
A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
Rose's tamponade
pericardial tamponade
cardiac tamponade
Congenital insufficiency of mitral valve
Mitral valve incompetence
congenital mitral insufficiency
congenital mitral regurgitation
mitral regurgitation
mitral valve insufficiency
diabetic autonomic neuropathy
autonomic neuropathy
An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
Psychogenic rumination
rumination disorder
A heart disease that is caused by high blood pressure.
hypertensive heart disease
Stenosis of larynx
laryngostenosis
corneal abscess
A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
Adie's pupil or syndrome
Adie's pupil syndrome
Adie's syndrome
Holmes-Adie syndrome
Adie syndrome
III nerve palsy
IIIrd nerve Paralysis
Third cranial nerve paralysis
oculomotor nerve paralysis
A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
FCED
Fuchs' corneal dystrophy
Fuchs' endothelial corneal dystrophy
Fuchs' endothelial dystrophy
An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
calcium pyrophosphate deposition disease
pseudogout
chondrocalcinosis
hypertensive retinopathy
A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
Infection by Listeria monocytogenes
Listeria infection
listeriosis
A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
Cauda equina syndrome
A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
HSAN III
familial autonomic nervous dysfunction
familial dysautonomia
hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
Lateral Wall of bladder
malignant neoplasm of lateral wall of urinary bladder
bladder lateral wall cancer
Pericardial tumor
malignant neoplasm of pericardium
malignant tumor of Pericardium
pericardium cancer
A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
Neonatal gynaecomastia
breast engorgement in newborn
infant gynecomastia
An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
Multicystic ovaries
PCOS
Polycystic Ovarian disease
Polycystic ovaries
Stein-Leventhal synd.
Stein-Leventhal syndrome
polycystic ovary
polycystic ovary syndrome
Ca penis
Penile Ca
malignant Penile tumor
malignant neoplasm of body of penis
penile neoplasm
penile cancer
Penile tumor
neoplasm of penis
penile benign neoplasm
Generalized thyroid hormone resistance
Refetoff syndrome
Thyroid hormone responsiveness defect
thyroid hormone resistance
thyroid hormone resistance syndrome
myxedema
A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
Bronchopulmonary dysplasia of newborn
Chronic lung disease of prematurity
Neonatal chronic lung disease
Perinatal bronchopulmonary dysplasia
Respiratory insufficiency
neonatal chronic respiratory disease
bronchopulmonary dysplasia
A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
Cicatricial pemphigoid with ocular involvement
Ocular pemphigoid
benign mucous membrane pemphigoid
benign mucous membrane pemphigoid with ocular involvement
ocular pemphigus
cicatricial pemphigoid
D1 Trisomy
trisomy 13
Patau's syndrome
Patau syndrome
A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
Infection by Onchocerca volvulus
Onchocerca volvulus infection
volvulosis
onchocerciasis
A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.
familial hyperlipoproteinemia
hyperlipemia
hyperlipidaemia
familial hyperlipidemia
melanoacanthoma
A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
portal vein thrombosis
A cardiovascular cancer located_in the heart.
Cardiac tumor
Tumour of heart
malignant Cardiac tumor
malignant neoplasm of heart
heart cancer
Fredrickson type V lipaemia
familial hyperlipoproteinemia type V
familial type 5 hyperlipoproteinemia
hyperlipoproteinemia type V
A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.
lipoatrophic diabetes
lipoatrophic diabetes mellitus
A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
Diabetic vascular disorder
diabetic peripheral angiopathy
diabetic angiopathy
A diabetes mellitus that manifests during pregnancy.
GDM
Gestational diabetes mellitus
Maternal gestational diabetes mellitus
gestational diabetes
A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
Prediabetes
impaired glucose tolerance
prediabetic state
prediabetes syndrome
A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
diabetes mellitus syndrome in newborn infant
neonatal diabetes
neonatal diabetes mellitus
Muscular dystrophy, oculopharyngeal
oculopharyngeal muscular dystrophy
Endogenous hyperlipidaemia
Fredrickson type IV Lipidemia
Fredrickson type IV hyperlipoproteinemia
Fredrickson type IV lipidaemia
VLDL hyperlipoproteinemia
familial hypertriglyceridemia
hyperlipoproteinemia type IV
A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
distal muscular dystrophy
distal myopathy
A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
Glycogen storage disease 7
Glycogen storage disease, type VII
Muscle phosphofructokinase deficiency
glycogen storage disease type VII
phosphofructokinase myopathy
glycogen storage disease VII
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
Dystrophia myotonica
Steinert disease
congenital myotonic dystrophy
myotonic dystrophy of Steinert
myotonic dystrophy type 1
A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Muscular dystrophy, Duchenne
Duchenne muscular dystrophy
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
Erb's muscular dystrophy
Leyden-Mbius muscular dystrophy
limb girdle muscular dystrophy
limb-girdle muscular dystrophy
A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Brachmann de Lange syndrome
De Lange syndrome
Cornelia de Lange syndrome
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
EDMD
Emery-Dreifuss muscular dystrophy
Landouzy Dejerine muscular dystrophy
Landouzy-Dejerine muscular dystrophy
Muscular dystrophy, Landouzy-Dejerine
facioscapulohumeral muscular dystrophy
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
Bannwarth syndrome
Bannworth's syndrome
Lyme borreliosis
Neurological Lyme disease
lyme neuroborreliosis
neuroborreliosis
Lyme disease
An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
ANEMIA HYPOCHROMIC
hypochromic anemia
A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
chronic laryngitis
A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
pericardial effusion
A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
protein-energy malnutrition
A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
sarcoma of bladder
sarcoma of the urinary bladder
bladder sarcoma
A urinary system cancer that is located_in the ureter.
malignant tumour of ureter
malignant ureteral tumor
ureter cancer
Superior Surface of bladder
malignant neoplasm of apex of urinary bladder
malignant neoplasm of dome of urinary bladder
malignant tumor of vault of bladder
bladder dome cancer
Lymphoma of the urinary bladder
bladder lymphoma
An acute kidney failure that is characterized by severe renal vasoconstriction.
hepatorenal syndrome
A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
Lipoid dermatoarthritis
multicentric reticulohistiocytosis
degenerative progressive high myopia
pathological myopia
progressive high (degenerative) myopia
progressive high myopia
degenerative myopia
A refractive error characterized by the inability to see farther objects clearly.
near vision
near-sightedness
short-sightedness
myopia
cortical blindness
epilepsy, visual
visual epilepsy
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
Congenital equinovarus
Equinovarus deformity of foot
congenital clubfoot
congenital talipes equinovarus
clubfoot
A sarcoma and malignant neoplasm of penis that is located_in the penis.
sarcoma of penis
penis sarcoma
A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
nephrotic syndrome
Coronary Vasospasm
Coronary artery spasm
coronary artery vasospasm
A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
Dementia in Pick's disease
LOBAR ATROPHY OF BRAIN
PICK DISEASE OF BRAIN
Pick disease
Pick's disease
neoplasm of ureter
ureteral tumor
ureteral benign neoplasm
An ureteral benign neoplasm that derives_from smooth muscle cells.
ureteral leiomyoma
ureter leiomyoma
ureteral schwannoma
schwannoma of ureter
A female reproductive system cancer that is located_in the vagina.
malignant neoplasm of vagina
malignant tumor of vagina
malignant vaginal tumor
neoplasm of vagina
vagina neoplasm
vaginal tumor
vaginal cancer
A vulva cancer that is located_in the labium majus.
malignant neoplasm of labia majora
malignant tumor of Labia Majora
labium majus cancer
Gastroparalysis
Gastroparesis syndrome
gastric atonia
gastroparesis
A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
Dermatophytosis of groin & perianal area
Dhobie itch
dermatophytosis of groin and perianal area
tinea cruris
A nervous system cancer that is located in the peripheral nervous system.
neoplasm of peripheral nerve
nerve sheath neoplasm
tumor of PNS
peripheral nervous system neoplasm
A respiratory system cancer that is located_in the trachea.
tracheal cancer
An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
head and neck neoplasm
head and neck tumours
head/neck neoplasm
tumor of head and neck
head and neck cancer
CJD
Creutzfeldt Jacob syndrome
Creutzfeldt Jakob disease
Creutzfeldt-Jacob disease
Jakob-Creutzfeldt disease
Subacute spongiform encephalopathy
Transmissible virus dementia
Creutzfeldt-Jakob disease
Ischemic peripheral neuropathy
ischemic neuropathy
acute esophagitis
esophagitis
A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, 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.
Botulism poisoning
Food poisoning due to Clostridium botulinum
Foodborne botulism
Infection due to clostridium botulinum
Intoxication with Clostridium botulinum toxin
botulism
Severe obesity
morbid obesity
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
Prader Willi syndrome
Prader-Willi syndrome
An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
hypertrophic obstructive cardiomyopathy
hypertrophic cardiomyopathy
An osteosclerosis that results_in numerous bone islands located_in skeleton.
osteopoikilosis
atrophy of testis
Torsion of testicle
Torsion of testis
testicular Torsion
spermatic cord torsion
spermatocele
A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
female reproductive cancer
malignant Gynecologic tumor
malignant neoplasm of female genital organ
female reproductive organ cancer
Lymphoma of Trachea
lymphoma of the trachea
tracheal lymphoma
A sarcoma and malignant tumor of trachea that is located_in the trachea.
sarcoma of the trachea
trachea sarcoma
A squamous cell carcinoma that is located_in the trachea.
Tracheal Epidermoid carcinoma
trachea squamous cell carcinoma
neoplasm of trigeminal nerve
tumor of Trigeminal nerve
trigeminal nerve neoplasm
malignant neoplasm of frontal lobe
neoplasm of frontal lobe
tumor of Frontal Lobe
frontal lobe neoplasm
An adrenal adenoma characterized by the over production of aldosterone.
Conn syndrome
primary aldosteronism
Conn's syndrome
An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
Diffuse uveitis
panuveitis
kernicterus due to isoimmunization
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
allergic hypersensitivity disease
hypersensitivity
hypersensitivity reaction type I disease
allergic disease
An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
Busse-Buschke's disease
European cryptococcosis
cryptococcal infection
torula
torulosis
cryptococcus neoformans infection
cryptococcosis
A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Rett's disorder
cerebroatrophic hyperammonemia
Rett syndrome
Neurofibroma of mediastinum
mediastinum neurofibroma
A female reproductive system disease that is located_in the vagina.
vaginal disease
An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
optic neuritis
A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
pulmonary alveolar proteinosis
An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
pica disease
An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
Necrotizing respiratory granulomatosis
Wegener granulomatosis, formerly
granulomatosis with polyangiitis
A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
Congenital factor VIII disorder
Hemophilia A
Subhemophilia
classic hemophilia
classic hemophilia A
factor VIII deficiency
A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
dysthymia
dysthymic disorder
Neuropathic bladder
neurogenic dysfunction of the urinary bladder
neurogenic urinary bladder disorder
neurogenic bladder
A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
LCM
Lymphocytic choriomeningitis virus encephalomyelitis
Lymphocytic meningitis
Lymphocytic meningoencephalitis
lymphocytic choriomeningitis
arachnoiditis
A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.
acute aseptic meningitis
aseptic meningitis
peripheral degeneration of retina
peripheral retinal degeneration
A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
CTS - Carpal tunnel syndrome
Median nerve entrapment
carpal tunnel median neuropathy
carpal tunnel syndrome
A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
goitre
goiter
A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
Dengue Fever
breakbone fever
classic dengue
classical dengue
dengue disease
A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.
DHF
Dengue haemorrhagic fever
dengue hemorrhagic fever
A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
Bancroftian elephantiasis
Bancroftian filarial chyluria
Lymphatic filariasis
elephantiasis of eyelid
filarial elephantiasis
A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
Oligohydramnios - delivered
antepartum oligohydramnios
delivered oligohydramnios
oligohydramnios
A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
Dementia with Lewy bodies
Diffuse Lewy body disease
Lewy body disease
Senile dementia of the Lewy body type
Lewy body dementia
A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
biliary liver cirrhosis
cholestatic cirrhosis
chronic nonsuppurative destructive cholangitis
primary biliary cirrhosis
primary biliary cholangitis
Perianal skin squamous cell carcinoma
anal margin squamous cell carcinoma
A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
beta thalassemia
lymphoma of the testis
malignant lymphoma of testis
testicular lymphoma
A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
Congenital factor IX deficiency
Congenital factor IX disorder
deficiency, functional factor IX
factor IX deficiency
hemophilia B
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
coloboma of eye
coloboma of macula
congenital ocular coloboma
coloboma
An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
Aplasia of iris
isolated aniridia
aniridia
A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.
cutaneous diphtheria
testicular leukemia
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
CHF Congo virus
Congo-Crimean Hemorrhagic Fever
Crimean hemorrhagic fever
Crimean-Congo hemorrhagic fever
A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
Paranoid type schizophrenia
Paraphrenia - late
Paraphrenic schizophrenia
chronic paranoid schizophrenia
paranoid type schizophrenia subchronic state
paranoid schizophrenia
An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
Harada's disease
Vogt-Koyanagi syndrome
uveomeningoencephalitic syndrome
Vogt-Koyanagi-Harada disease
Incontinentia pigmenti
Incontinentia pigmenti syndrome
Bloch-Sulzberger syndrome
An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
vitiligo
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
Dubin Johnson syndrome
chronic idiopathic jaundice
Dubin-Johnson syndrome
UP/MPCM
urticaria pigmentosa
An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
granular corneal dystrophy
Dual-role transvestism
Fetishistic transvestism
Transvestic fetishism
cross dresser
transvestism
retroperitoneal lymphoma
A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
retroperitoneal sarcoma
carcinoma of Retroperitoneum
carcinoma of the retroperitoneum
retroperitoneum carcinoma
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Lobstein's syndrome
Osteopsathyrosis
Vrolik's disease
brittle bone disease
Fragilitas ossium
osteogenesis imperfecta
fetishism
acute alcoholic hepatitis
acute alcoholic liver disease
alcoholic hepatitis
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Grave's disease
Graves disease
exophthalmic goiter
Basedow's disease
Graves' disease
A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
induced malaria
malaria
A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
Chest infection - bronchopneumonia
bronchial pneumonia
lobular pneumonia
bronchopneumonia
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
Kugelberg-Welander disease
SMA3
Spinal Muscular Atrophy Type 3
Type III Spinal Muscular Atrophy
juvenile spinal muscular atrophy
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
spinal muscular atrophy
A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
Shigella boydii infectious disease
Shigella flexneri infectious disease
Shigella gastroenteritis
Shigella sonnei infectious disease
bacillary dysentery
shigellosis
A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.
balantidiasis
A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
vasopressin-resistant diabetes insipidus
Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
nephrogenic diabetes insipidus
A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
Pituitary diabetes insipidus
Vasopressin deficiency
vasopressin defective diabetes insipidus
neurohypophyseal diabetes insipidus
An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
Compulsive gambling
pathological gambling
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
leukemia
An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
Pathological stealing
kleptomania
An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
explosive personality disorder
intermittent explosive disorder
An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
Pathological firesetting
firesetting behavior
pyromania
A vulva cancer that is located_in the labium minora.
malignant neoplasm of labia minora
malignant neoplasm of labium minus
malignant tumor of Labia Minora
labia minora cancer
A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
aplastic anemia
A female reproductive organ cancer that is located_in the vulva.
Ca vulva
Vulvar tumor
malignant Vulvar tumor
malignant neoplasm of vulva
malignant tumor of vulva
neoplasm of vulva
vulval cancer
vulval neoplasm
vulvar neoplasm
vulva cancer
An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
pancytopenia
secondary hyperparathyroidism
A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
coagulation protein disease
postpartum coagulation defect
postpartum coagulation defect with delivery
inherited blood coagulation disease
blood coagulation disease
Vagus nerve disorder
disorder of pneumogastric [10th] nerve
disorder of vagal nerve
disorder of vagus nerve
Vagus nerve disease
A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyoma of vagina
vagina leiomyoma
Retinal break
Retinal dialysis
Retinal tear
retinal perforation
A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
Infection by Trichuris trichura
Trichuriasis infection
Whipworm disease
trichuris trichiura infection
trichuriasis
An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
sugar cane worker pneumonitis
bagassosis
tarsal tunnel syndrome
A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
vascular hemophilia
vascular pseudohemophilia
von Willebrand disease
von Willebrand disorder
von Willebrand's-Jurgens' disease
von Willebrand-Jrgens disease
von Willebrand's disease
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Viral hepatitis, type A
Viral hepatitis A
hepatitis A
A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
haemolytic-uraemic syndrome
hemolytic uremic syndrome
hemolytic-uremic syndrome
An acute kidney failure that is characterized by necrosis of epithelial tubule cells.
ATN - acute tubular necrosis
acute renal Failure with tubular necrosis
acute renal failure with lesion of tubular necrosis
acute tubular necrosis
acute tubule necrosis
acute kidney tubular necrosis
A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction.
Duane's syndrome
Stilling-Turk-Duane syndrome
Duane retraction syndrome
neonatal thyrotoxicosis
Uveitis, posterior
posterior uveitis
Obstruction of urethra
urethral obstruction
A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
5p deletion syndrome
5p partial monosomy syndrome
chromosome 5 short arm deletion syndrome
chromosome 5p deletion syndrome
Cri-Du-Chat syndrome
A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
Potter sequence
Potter syndrome
Potter's syndrome
A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
Stem cell Leukemia
Stem cell leukaemia
acute leukemia
A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
congenital hypertrophic pyloric stenosis
congenital or infantile stricture of pylorus
hypertrophic pyloric stenosis
pyloric stenosis
Diaphragmatic - hiatus -hernia
hiatal hernia
hiatus hernia
acoustic nerve disease
vestibulocochlear nerve disease
A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
Mucocutaneous-lymphangitic paracoccidioidomycosis
paracoccidioidal mycosis
paracoccidioidomycosis
A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
Blastomyces Dermatitidis Infection
Blastomycotic infection
Chicago disease
Gilchrist's disease
Infection by Blastomyces dermatitidis
North American blastomycosis
blastomycosis
simultaneous visual perception without fusion
binocular vision disease
nephrocalcinosis
A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts.
pseudobulbar paralysis
pseudobulbar palsy
A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.
mixed receptive-expressive language disorder
Vestibular Neurilemmoma
Vestibular schwannoma
acoustic neuroma
A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
gynecomastia
A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyomatous neoplasm
leiomyomatous tumor
leiomyoma
A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Osler hemorrhagic telangiectasia syndrome
Osler-Weber-Rendu disease
Rendu-Osler-Weber disease
hereditary hemorrhagic telangiectasia
An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
Boder-Sedgwick syndrome
Louis Bar syndrome
ataxia telangiectasia
Friedreich's ataxia
Friedreich's tabes
Friedreich ataxia
A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
medullary cystic disease
medullary cystic kidney
nephronophthisis
A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
Chondroectodermal dysplasia
mesoectodermal dysplasia
Ellis-Van Creveld syndrome
telangiectasia
telangiectasis
An atherosclerosis of the cerebral vasculature.
cerebral atherosclerosis
A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
RSV
respiratory syncytial virus
respiratory syncytial virus infectious disease
Posterior cyclitis
pars planitis
chronic cyclitis
peripheral uveoretinitis
intermediate uveitis
malignant neoplasm of lacrimal duct
malignant tumor of lacrimal duct
lacrimal duct cancer
Choroidal tumor
choroid neoplasm
malignant tumor of choroid
malignant tumor of the Choroid
neoplasm of choroid
choroid cancer
tolosa-hunt syndrome
A migraine that is characterized by migraine headaches that are not accompanied by an aura.
common migraine
migraine without aura
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
mucopolysaccharidosis
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Hunter syndrome
Hunter's syndrome
MPS II - Hunter syndrome
Mucopolysaccharidosis, MPS-II
deficiency of iduronate-2-sulphatase
mucopolysaccharidosis II
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
MPS VI - Maroteaux-Lamy syndrome
Maroteaux - Lamy syndrome
Maroteaux-Lamy syndrome
arylsulfatase B deficiency
deficiency of N-acetylgalactosamine-4-sulfatase
mucopolysaccharidosis VI
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Mucopolysaccharidosis, MPS-III
N-sulphoglucosamine sulphohydrolase deficiency
Sanfilippo's syndrome
heparan sulfate sulfatase deficiency
naglu deficiency
mucopolysaccharidosis III
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Hurler syndrome
Hurler-Scheie syndrome
Lipochondrodystrophy
MPS I - Hurler syndrome
Mucopolysaccharidosis, MPS-I
Mucopolysaccharidosis, type 1
iduronidase deficiency disease
mucopolysaccharidosis I
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
MPS VII - Sly syndrome
Sly syndrome
beta-glucuronidase deficiency
deficiency of beta-glucuronidase
mucopolysaccharidosis VII
mucopolysaccharidosis type VII
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Mucopolysaccharidosis, MPS-IV
deficiency of N-acetylgalactosamine-6-sulphatase
deficiency of chondroitinsulphatase
galactosamine-6-sulfatase deficiency
Osteochondrodystrophy
chondroosteodystrophy
mucopolysaccharidosis IV
tetraplegia
quadriplegia
Thyrotoxic crisis
thyroid crisis
A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
ancylostomiasis
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
Infectious neuronitis
Post-infectious polyneuritis
Postinfectious polyneuritis
acute infective polyneuritis
acute inflammatory demyelinating polyradiculopathy
acute postinfectious polyneuropathy
Guillain-Barre syndrome
An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Kanner's syndrome
autism
autistic disorder of childhood onset
childhood autism
infantile autism
autistic disorder
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Huntington disease
Huntington's chorea
Huntington's disease
A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
disease of subdivision of hemolymphoid system
cardiovascular system disease
A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
Hypochondria
Hypochondriacal disorder
hypochondriacal neurosis
hypochondriasis
A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
Fisher's syndrome
Miller-Fisher variant of Guillain-Barre syndrome
Miller Fisher syndrome
A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
degenerative disease
neurodegenerative disease
An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Sicca syndrome
Sjogren syndrome
xerodermosteosis
Sjogren's syndrome
Godwin tumor
benign lymphoepithelial lesion of salivary gland
An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
IgG4-related dacryoadenitis and sialadenitis
Mikulicz's disease
Mikulicz disease
Mucous retention cyst of salivary gland
Ranula
Salivary Cyst
Salivary gland mucocele
mucocele of salivary gland
Buerger's disease
Presenile gangrene
thromboangiitis obliterans
An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
Elastomyofibrosis
endocardial fibroelastosis
A vulva carcinoma that is located_in the labia minora.
Labia Minora cancer
carcinoma of labia minora
labia minora carcinoma
An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
primary dilated cardiomyopathy
Congestive cardiomyopathy
Familial dilated cardiomyopathy
Idiopathic dilation cardiomyopathy
dilated cardiomyopathy
African endomyocardial fibrosis
Becker's disease
Endomyocardial sclerosis
obscure African cardiomyopathy
endomyocardial fibrosis
Kearns-Sayre syndrome
Alcohol-induced heart muscle disease
Dilated cardiomyopathy secondary to alcohol
alcoholic cardiomyopathy
A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Vulvar carcinoma
carcinoma of vulva
vulva carcinoma
A synostosis that results_in craniosynostosis and syndactyly.
Apert syndrome
acrocephalosyndactylia
A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
Poland anomaly
Poland's syndactyly
Poland syndrome
A leukemia located_in the central nervous system.
Leukemia of the CNS
central nervous system leukemia
A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
Congenital spherocytic hemolytic anemia
Minkowski Chauffard syndrome
spherocytic anemia
hereditary spherocytosis
A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
Malaria by Plasmodium vivax
Vivax Malaria
Plasmodium vivax malaria
Vagus nerve tumors
neoplasm of vagus nerve
vagus nerve neoplasm
leukostasis
A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
conduct disorder
Carotid artery stenosis
Stenosis, carotid artery
carotid stenosis
Subclavian artery stenosis
subclavian steal phenomenon
subclavian steal steno-occlusive disease
subclavian steal syndrome
EKC
Epidemic keratoconjunctivitis
shipyard eye
Retrolental fibroplasia
premature retinopathy
retinopathy of prematurity
An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
transient global amnesia
balanitis
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
Relapsing fever, louse-borne
louse-borne relapsing fever
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
Relapsing fever, tick-borne
soft tick relapsing fever
tick-borne relapsing fever
Fetal circulation
Persistent fetal circulation
Persistent foetal circulation
congenital alveolar capillary dysplasia with misalignment of pulmonary veins
persistent foetal circulation syndrome
persistent pulmonary hypertension of the newborn
persistent fetal circulation syndrome
renal rickets
renal osteodystrophy
Keratoderma - acquired
Keratoderma, acquired
acquired keratoderma
acquired hyperkeratosis
A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
Madura foot
Maduromycosis, mycotic
Mycotic mycetoma
eumycetoma
maduromycosis
eumycotic mycetoma
Angioma of the Subcutaneous tissue
Subcutaneous haemangioma
Subcutaneous hemangioma
hemangioma of subcutaneous tissue
periventricular leukomalacia
Arterial retinal branch occlusion
retinal arterial branch occlusion
branch retinal artery occlusion
A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
central retinal artery occlusion
A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
progressive intracranial arterial occlusion
Moyamoya disease
A bladder benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urinary bladder
bladder leiomyoma
bladder squamous papilloma
A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
Infected nailfold
Onychia and paronychia of finger
Onychia and paronychia of toe
fungal nail infection
paronychia inflammation
paronychia
FGS
FSGS
focal glomerular sclerosis
focal glomerulosclerosis
focal segmental glomerulosclerosis
A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
HELLP syndrome
A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
HMN (Hereditary motor Neuropathy) Proximal type I
SMA1
Spinal muscular atrophy 1
hereditary motor neuropathy proximal type I
infantile muscular atrophy
progressive muscular atrophy of infancy
Werdnig-Hoffmann disease
crescentic glomerulonephritis
An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
uveitis
benign secondary hypertension
A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
Candida Esophagitis
Candidal esophagitis
Candidiasis of the esophagus
esophageal moniliasis
esophageal thrush
esophageal candidiasis
fungal esophagitis
A cystitis characterized by a sudden onset or severe symptoms.
acute cystitis
A squamous cell carcinoma that is located_in the scrotum.
Scrotal squamous cell carcinoma
scrotum squamous cell carcinoma
melanoma of scrotum
scrotum melanoma
An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.
pulmonary aspergillus disease
allergic bronchopulmonary aspergillosis
Spermatic cord Ca
malignant tumor of spermatic cord
malignant tumor of the Spermatic Cord
spermatic cord cancer
megaesophagus
An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
Articular gout
Gouty arthropathy
gouty arthritis
gout
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
BT - Brain tumour
adult brain tumor
adult malignant brain neoplasm
brain neoplasm
brain neoplasm, adult
malignant brain tumour
malignant primary brain neoplasm
malignant primary brain tumor
malignant tumor of Brain
malignant tumor of adult brain
neoplasm of brain
primary brain neoplasm
primary brain tumor
primary malignant neoplasm of brain
tumor of the Brain
brain cancer
Goiter, non-toxic
Goitre, non-toxic
Nodule-thyroid, non tox
Non-toxic goitre
Non-toxic simple goitre
nontoxic goiter
Goiter, nodular
nodular goitre
nodular goiter
A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
Iodine-deficiency-related endemic goitre
simple goitre
endemic goiter
PDR
proliferative diabetic retinopathy
Non proliferative diabetic retinopathy
Non-Proliferative Diabetic Retinopathy
background diabetic retinopathy
An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
Plexiform leiomyoma
UTERUS FIBROMA
leiomyoma of Corpus Uteri
uterine leiomyoma
uterine fibroid
An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.
Adamantiades-Behcet disease
Behcet syndrome
Behet's syndrome
triple symptom complex
Behcet's syndrome
Behcet's disease
Appendicele Mucocele
mucocele of appendix
A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
Typhoid
typhoid fever
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Hematoporphyria
Porphyrinopathy
disorder of porphyrin and hem metabolism
disorder of porphyrin metabolism
porphyria
Coproporphyrinogen oxidase deficiency
hereditary coproporphyria porphyria
hereditary coproporphyria
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
EPP
Protoporphyria
erythropoietic protoporphyria
Erythropoietic porphyria
cutaneous porphyria
A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
Rift Valley fever
A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin.
vaginal Muellerian papilloma
vaginal Mullerian papilloma
An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
Juvenile osteochondritis of the spine
Juvenile osteochondrosis of Scheurermann
Juvenile osteochondrosis of spine
Scheuermann's kyphosis
Sherman's Disease
Scheuermann disease
Scheuermann's disease
pancreatic mucinous ductal ectasia
A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.
EPI
exocrine pancreatic insufficiency
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Islet cell hyperplasia
nesidioblastosis
persistent hyperinsulinemia hypoglycemia of infancy
hyperinsulinemic hypoglycemia
A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
Toxoplasmosis - congen.
congenital toxoplasmosis
Paedophilia
pedophilia
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Cutis hyperelastica
elastic skin
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
Ehlers-Danlos syndrome
A movement disease that is of unknown etiology characterized by progressive rigidity.
Stiff-man syndrome
stiff man syndrome
Stiff-Person syndrome
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
AAT deficiency
alpha 1-antitrypsin deficiency
A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
Stone Man Syndrome
myositis ossificans progressiva
progressive myositis ossificans
progressive ossifying myositis
fibrodysplasia ossificans progressiva
A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
Horton's disease
giant cell arteritis
temporal arteritis
A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.
Kawasaki's disease
MLNS
acute febrile MCLS
acute febrile mucocutaneous lymph node syndrome
mucocutaneous lymph node syndrome
Kawasaki disease
A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
congenital dyshaematopoietic anaemia
congenital dyserythropoietic anemia
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
ANEMIA PERNICIOUS
Addison's anaemia
Biermer's anaemia
Biermer's anemia
pernicious anaemia
pernicious anemia
A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
Grasbeck-Imerslund syndrome
Imerslund-Grasbeck syndrome
MGA1 Norwegian type
RH-MGA1
megaloblastic anaemia
recessive hereditary megaloblastic anaemia 1
recessive hereditary megaloblastic anemia 1
IGS
megaloblastic anemia
A vulva carcinoma that is located_in the labia majora.
Labia Majora cancer
carcinoma of labia majora
labia majora carcinoma
A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
Blackfan - Diamond syndrome
chronic constitutional pure red cell anaemia
Diamond-Blackfan anemia
A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
BLINDNESS COLOR
Colour blindness
Colour vision deficiency
color blindness
A vaginal cancer that has_material_basis_in glandular tissue.
vaginal glandular tumor
A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.
Red cell hypoplasia
primary red cell aplasia
pure red cell aplasia
pure red-cell aplasia
Cutaneous sarcoid
cutaneous sarcoidosis
skin sarcoidosis
A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
cerebral sarcoidosis
neurosarcoidosis
A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
cardiac sarcoidosis
A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
lung Sarcoidosis
pulmonary sarcoidosis
hypercalcemic sarcoidosis
perforation of bile duct
A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
Portal-systemic encephalopathy
hepatic encephalopathy
Non-Gonococcal Urethritis
Nongonococcal urethritis
urethritis
A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
Farcy pipes
Infection due to Pseudomonas mallei
glanders
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
primary extrapulmonary coccidioidomycosis
coccidioidomycosis
scleritis
Ca larynx - supraglottis
malignant Supraglottic tumor
malignant neoplasm of extrinsic larynx
malignant neoplasm of supraglottis
malignant tumor of supraglottis
supraglottis
supraglottis cancer
A balantitis characterized by white plaques or patches on genitals.
Penile Lichen Sclerosus
balanitis xerotica obliterans
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
thanatophoric dysplasia
A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
Wiedemann's syndrome
Proteus syndrome
A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
Disintegrative psychosis
Heller's syndrome
Symbiotic psychosis
childhood disintegrative disease
malignant neoplasm of jejunum
malignant tumor of jejunum
jejunal cancer
A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
benign vaginal carcinosarcoma
neoplasm of accessory sinus
tumor of Accessory sinus
paranasal sinus benign neoplasm
Overgrowth of filiform papillae
hairy tongue
A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
Mobius syndrome
Moebius congenital oculofacial paralysis
Oromandibular-limb hypogenesis spectrum
Moebius syndrome
trigonitis
A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Bourneville's disease
Epiloia
Tuberose sclerosis
Tuberous sclerosis complex
Tuberous sclerosis syndrome
cerebral sclerosis
tuberous sclerosis
disorder of nasal sinus
paranasal sinus disease
A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
neonatal tetanus
tetanus neonatorum
A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
loiasis
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Albers-Schonberg disease
marble bone
osteopetrosis
Corneal Epidermoid carcinoma
cornea squamous cell carcinoma
A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
hyperparathyroidism
Symptomatic parkinsonism
disorder presenting primarily with parkinsonism
secondary parkinsonism
secondary Parkinson disease
Lymphoma of Accessory sinus
lymphoma of paranasal sinus
paranasal sinus lymphoma
A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
ACG - Angle-closure glaucoma
Angle Closure Glaucoma
Closed angle glaucoma
Narrow cleft glaucoma
primary open-angle glaucoma with narrow angles
angle-closure glaucoma
An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
Infection due to Aspergillus
aspergillosis
malignant neoplasm of antrum
malignant tumor of the maxillary sinus
maxillary sinus cancer
A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.
Fetal blood loss from fetal hemorrhage into co-twin
Fetal hemorrhage into co-twin
Twin to twin transfusion
Twin-to-twin blood transfer
twin-to-twin transfusion syndrome
neoplasm of maxillary sinus
tumor of Maxillofacial sinus
maxillary sinus benign neoplasm
A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
Obstruction of bile duct
bile occlusion
cholestasis
A pre-eclampsia characterized by the presence of seizures.
Eclampsia in puerperium
Eclampsia, postpartum
Postpartum eclampsia
eclampsia
A vaginal carcinoma that has_material_basis_in connective tissue.
malignant vaginal mixed epithelial and mesenchymal tumor
vaginal malignant mixed Mullerian tumor
vaginal malignant mixed mesodermal (mullerian) tumor
vaginal mixed epithelial and mesenchymal tumor
vaginal carcinosarcoma
malignant neoplasm of frontal sinus
malignant tumor of frontal sinus
malignant tumor of the Frontal sinus
frontal sinus cancer
A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
Cholestatic Jaundice
Cholestatic jaundice syndrome
Obstructive hyperbilirubinemia
obstructive jaundice
A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Atresia of bile duct
Congenital biliary atresia
biliary atresia, congenital
biliary atresia
neoplasm of frontal sinus
tumor of the Frontal sinus
frontal sinus benign neoplasm
A cholestasis resulting from causes located_in bile ducts outside the liver.
extrahepatic biliary Stasis
extrahepatic obstructive biliary disease
extrahepatic cholestasis
A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
sarcoma of Accessory sinus
paranasal sinus sarcoma
Atrial septal defect within oval fossa
Defect, Patent or persistent, ostium secundum
Ostium secundum type atrial septal defect
Persistent ostium secundum
foramen ovale patent
patent foramen ovale
photokeratitis
A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
favism
malignant neoplasm of ethmoidal sinus
malignant tumor of ethmoid sinus
malignant tumor of ethmoidal sinus
ethmoid sinus cancer
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Fanconi anaemia
Fanconi pancytopenia
Fanconi panmyelopathy
Fanconi's anaemia
Fanconi's anemia
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
Fanconi anemia
neoplasm of ethmoidal sinus
tumor of ethmoidal sinus
ethmoidal sinus benign neoplasm
A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
Pseudoexfoliation glaucoma
Pseudoexfoliation syndrome
exfoliation syndrome
A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.
Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
SAPHO syndrome
Prostatic lithiasis
Prostatic stone
Stone of prostate
calculus of prostate
prostate calculus
A dermoid cyst that is located_in the skin.
skin Dermoid
dermoid cyst of skin
A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium.
squamous papilloma of vagina
vaginal squamous papilloma
premature ejaculation
An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium.
uterine corpus adenomatoid tumour
uterine corpus localised epithelial Mesothelioma
uterine corpus localized epithelial Mesothelioma
uterine corpus adenomatoid tumor
A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
Intrinsic enamel discolouration of fluorosis
Mottled teeth
Mottling of enamel
dental fluorosis
A tooth disease that is characterized by complete absence of permanent teeth.
Complete absence of teeth
Developmental absence of tooth
Total anodontia of permanent and deciduous teeth
anodontia
A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
scurvy
A thiamine deficiency disease that is characterized by being severe and chronic.
beriberi
An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
endometrial stromal nodule
neurofibroma of spinal cord
A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
Lipoma of spinal cord
spinal cord lipoma
Epiphora
Excessive tear production
Watering eye
excessive tearing
A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
Infestation by Phthirus pubis
Pediculosis Pubis
Pediculus pubis
Phthiriasis pubis
Phthirus pubis
Phthirus/pediculus pubis - pubic lice - crabs
crabs
Pthirus pubis infestation
An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Addison disease
Addison disease, chronic adrenal insufficiency
HYPOADRENOCORTICISM, FAMILIAL
primary adrenocortical insufficiency
primary hypoadrenalism
Addison's disease
A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
Verruca plantaris
plantar wart
A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
epidermodysplasia verruciformis
A vaginal cancer that has_material_basis_in squamous tissue.
vaginal squamous tumor
A uterine cancer that is located_in tissues lining the uterus.
endometrial Ca
endometrial neoplasm
malignant endometrial neoplasm
malignant neoplasm of endometrium
neoplasm of endometrium
primary malignant neoplasm of endometrium
tumor of Endometrium
endometrial cancer
A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
Adenoviral pharyngoconjunctivitis
pharyngo-conjunctival fever
pharyngoconjunctival fever
familial multiple lipoprotein-type hyperlipidemia
hyperbetalipoproteinemia with prebetalipoproteinemia
mixed hyperlipidaemia
type IIb hyperlipoproteinemia
familial combined hyperlipidemia
A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
Fox Fordyce disease
Fox-Fordyce disease
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Fredrickson type IIa hyperlipoproteinemia
Fredrickson type IIa lipidaemia
familial hyperbetalipoproteinaemia
familial hypercholesteremia
hyperbetalipoproteinemia
type II hyperlipidemia
familial hypercholesterolemia
A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
disorder of 12th nerve
disorder of XII nerve
disorder of hypoglossal [12th] nerve
disorder of hypoglossal nerve
hypoglossal nerve disease
A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
Climatic or tropical bubo
Durand-Nicolas-Favre disease
Lymphogranuloma inguinale
Poradenitis inguinale
Strumous bubo
lymphogranuloma venereum
A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
eccrine miliaria
heat rash
sweat rash
miliaria
A cataract resulting from hypocalcemia.
Hypocalcaemic cataract
tetanic cataract
Patent ductus Botalli
ductus arteriosus, Patent
patent ductus arteriosus
A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
familial hypobetalipoproteinemia
microsomal triglyceride transfer protein deficiency disease
abetalipoproteinemia
Superior oblique muscle innervation disorder
Trochlear nerve disorder
disorder of trochlear nerve
trochlear nerve disease
Lack or loss of sexual desire
hypoactive sexual desire disorder
A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
familial alpha-lipoprotein deficiency
familial high density lipoprotein deficiency
Tangier disease
sinus node infection
sick sinus syndrome
A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
polyneuropathy
An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
Avian hypersensitivity Pneumonitis
Bird-fancier's lung
Bird-fanciers' lung
bird breeder's lung
bird fancier lung
pigeon breeder's lung
poultry worker's lung
bird fancier's lung
Epidermoid papilloma
squamous cell papilloma
LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
lecithin acyltransferase deficiency
Norum disease
A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
ACHM
Monochromatism
achromatopsia
acquired color vision deficiencies
acquired color vision deficiency
acquired colour blindness
acquired colour vision deficiencies
acquired colour vision deficiency
acquired color blindness
bacterial esophagitis
An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
eosinophilic esophagitis
ANUG
Angina - Vincents
Vincent angina
Vincent's angina
Vincent's angina - pharyngitis
Vincent's disease
Vincent's infection, any site
acute necrotising ulcerative gingivitis
acute necrotising ulcerative gingivostomatitis
acute necrotizing ulcerative gingivitis
acute necrotizing ulcerative gingivostomatitis
acute ulceromembranous gingivitis
early acute necrotising gingivitis
trench mouth
necrotizing ulcerative gingivitis
Blocked lacrimal canaliculus
Obstruction of lacrimal canaliculus
Obstruction of lacrimal ducts
lacrimal duct obstruction
An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
visual pathway disease
Facial Palsy
facial paralysis
A female reproductive system disease that is characterized by the absence of menstruation.
absence of menstruation
amenia
amenorrhea
A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
Schistosoma Hematobium Infection
Schistosoma haematobium
Schistosoma hematobium infectious disease
Schistosomiasis due to schistosoma haematobium
Schistosomiasis of bladder
Vesical schistosomiasis
bladder Schistosomiasis
cystitis with bilharziasis
Schistosoma haematobium infection
urinary schistosomiasis
A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
hereditary multi-infarct dementia
CADASIL
Obstruction of bladder neck or vesicourethral orifice
bladder neck obstruction
ulcerative cystitis
interstitial cystitis
An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.
uterine corpus epithelioid leiomyoma
A uterine fibroid that is characterized by the presence of intramural tearing.
uterine corpus dissecting leiomyoma
An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.
uterine corpus myxoid leiomyoma
An uterine fibroid that is characterized by the presence of adipocytes.
uterine corpus lipoleiomyoma
An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells.
uterine Corpus Symplastic leiomyoma
uterine corpus bizarre leiomyoma
A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
Ectoparasitic disease
parasitemia
parasitic infectious disease
An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Marie-Sainton Disease
cleidocranial dysostosis
cleidocranial dysplasia
small intestinal Lymphoma
small intestine lymphoma
An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
lacrimal apparatus disease
An aortic aneurysm that is located_in the thoracic aorta.
thoracic aortic aneurysm
Alcoholic Cirrhosis
Alcoholic cirrhosis of liver
Laennec's cirrhosis
Laennec's cirrhosis, alcoholic
Portal cirrhosis
alcoholic liver cirrhosis
A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
POEMS syndrome
An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Autoimmune polyglandular failure
Lloyd's syndrome
autoimmune polyendocrinopathy
autoimmune polyendocrine syndrome
iritis
Post-Streptococcal Glomerulonephritis
acute poststreptococcal glomerulonephritis
acute Diffuse Glomerulonephritis
acute diffuse nephritis
A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
Malaria fever, subtertian
falciparum malaria
malignant tertian fever
Plasmodium falciparum malaria
A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
Black water fever
Hemoglobinuric, malaria
Malarial Hemoglobinuria
blackwater fever
A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
Malarial encephalitis
cerebral malaria
anterior uveitis
A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
GRA
GRS
familial hyperaldosteronism type I
glucocorticoid-suppressible hyperaldosteronism
glucocorticoid-remediable aldosteronism
A bone inflammation disease that results_in inflammation located_in epicondyle.
Lateral epicondylitis
andrel epicondylitis
archer's elbow
golfer's elbow
hockey elbow
medial epicondylitis
shooter's elbow
tennis elbow
epicondylitis
A large intestine cancer that is located_in the anus.
anal cancer
malignant anal tumor
anus cancer
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
TSS
toxic shock
toxic shock syndrome
LIPODYSTROPHY, CEPHALOTHORACIC
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
Launois-Bensaude's lipomatosis
Madelung's neck
cervical Symmetrical Lipomatosis
multiple symmetrical lipomatosis
multiple symmetric lipomatosis
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
Fredrickson type I hyperlipoproteinemia
Fredrickson type I lipaemia
familial LPL deficiency
familial hyperlipoproteinemia type I
hypercholesterinaemic xanthomatosis
hyperchylomicronemia
mixed hyperglyceridemia
familial lipoprotein lipase deficiency
VIth Cranial nerve tumors
neoplasm of abducens nerve
abducens nerve neoplasm
Lymphoma of anus
anus lymphoma
anal melanoma
malignant melanoma of anus
malignant anus melanoma
An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
Ureteric calculus
Ureteric stone
calculus of ureter
ureterolithiasis
Gyrate atrophy of the choroid and/or retina
Ornithinemia with gyrate atrophy
gyrate atrophy of the retina
OMIM mapping by NeuroDevNet. [LS].
gyrate atrophy
A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
Lymphoma of the Spinal Cord
spinal cord cancer
spinal cord lymphoma
melanoma of the Spinal Cord
spinal cord melanoma
sarcoma of the Spinal Cord
spinal cord sarcoma
obstructive hydrocephalus
An uveal disease that is located_in the choroid.
choroid disease
Neurolipocytoma
central neurocytoma
Hippel Lindau syndrome
von Hippel-Lindau syndrome
von Hippel-Lindau disease
A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
Immunoglobin G subclass deficiency
Selective IgG Immunodeficiency
Selective Immunoglobulin G Subclass deficiency
Selective deficiency of IgG
Selective immunoglobulin G deficiency
selective IgG deficiency disease
An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
BTK deficiency
Bruton agammaglobulinemia tyrosine kinase deficiency
Bruton disease
Bruton's Sex-Linked Agammaglobulinemia
Bruton's agammaglobulinaemia
Bruton's type agammaglobulinemia
Bruton-type agammaglobulinemia
X-linked agammaglobulinemia
Alcohol-related polyneuropathy
Alcoholic polyneuropathy
alcoholic neuropathy
Juvenile dermatomyositis
childhood Dermatomyositis
childhood type dermatomyositis
A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
deficiency of alkaline phosphatase
hypophosphatasia
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
Dihydrouracil Dehydrogenase deficiency
familial pyrimidinaemia
thymine-uracilurea
dihydropyrimidine dehydrogenase deficiency
A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.
renal tubular acidosis
An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
dysmetabolic syndrome X
metabolic syndrome X
abdominal obesity-metabolic syndrome 1
A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
ochronosis
Calcification of trachea
tracheal calcification
A male infertility disease characterized by the absence of any measurable level of sperm in semen.
azoospermia
A male fertility issue defined as a low sperm concentration in the ejaculate.
oligospermia
A suppurative otitis media which is persistent and long-lasting.
chronic suppurative otitis media
chronic purulent otitis media
Ureter abscess
pyoureter
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
Complete trisomy 21 syndrome
Down's syndrome
Down's syndrome - trisomy 21
Downs syndrome
G Trisomy
trisomy 21 syndrome
Down syndrome
A urinary system disease that is located_in the ureter.
ureteral disease
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
FRAGILE X MENTAL RETARDATION SYNDROME
MARKER X SYNDROME
MARTIN-BELL SYNDROME
fragile X syndrome
A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
Candidiasis of mouth
Oral moniliasis
Thrush, oral
thrush
oral candidiasis
A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
benign familial neonatal seizures
benign neonatal convulsions
benign neonatal seizures
A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
Pulmonic insufficiency
Pulmonic valve regurgitation
pulmonary incompetence
pulmonary incompetence, non-rheumatic
pulmonary insufficiency following trauma and surgery
pulmonary regurg.
pulmonary regurgitation
Replacing outdated UMLS CUI.
pulmonary valve insufficiency
suppurative cholangitis
ascending cholangitis
acute cholangitis
pericholangitis
Pachydermoperiostosis of nail
Pachydermoperiostosis syndrome
primary hypertrophic osteoarthropathy
A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
Ebstein's anomaly
Ebstein's anomaly of common atrioventricular valve
Ebstein's anomaly of right atrioventricular valve
Ebstein's anomaly of tricuspid valve
Ebstein anomaly
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
Generalized lentiginosis
Gorlin syndrome II
LEOPARD syndrome
Lentiginosis profusa syndrome
Moynahan syndrome
Multiple lentigines syndrome
Progressive cardiomyopathic lentiginosis
Noonan syndrome with multiple lentigines
A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
Dystrophy of vulva
vulvar dystrophy
A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
tuberculous empyema
Angiolymphoid Cutaneous hyperplasia
epithelioid hemangioma of skin
skin epithelioid hemangioma
An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
generalized anxiety disorder
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Marfan's syndrome
Marfan syndrome
A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
Malaria by Plasmodium malariae
Quartan Malaria
Plasmodium malariae malaria
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Parkinson disease
paralysis agitans
Parkinson's disease
postencephalitic parkinsonism
postencephalitic Parkinson disease
An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen.
hyperestrogenism
estrogen excess
Infectious thyroiditis
acute suppurative thyroiditis
suppurative thyroiditis
Riedel fibrosing thyroiditis
Riedel's fibrosing thyroiditis
An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
carnitine transporter deficiency
carnitine uptake defect
deficiency of plasma-membrane carnitine transporter
primary carnitine deficiency
renal carnitine transport defect
systemic primary carnitine deficiency disease
A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
Crusted scabies
norwegian scabies
A cerebrum cancer that is located_in the parietal lobe.
malignant neoplasm of parietal lobe
tumor of Parietal Lobe
parietal lobe neoplasm
Pus cells in urine
pyuria
An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Azorean disease
MJD
SCA3
spinocerebellar ataxia 3
spinocerebellar ataxia type 3
Machado-Joseph disease
A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.
capillary leak syndrome
A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
spinocerebellar ataxia
autosomal dominant cerebellar ataxia
An osteochondrosis that results_in death and fracture located_in hip joint.
Calve - Perthes' disease
Coxa plana
Juvenile osteochond-hip/pelvis
Juvenile osteochondrosis of hip and/or pelvis
Perthe's disease
Perthes disease
juvenile osteochondrosis of hip and pelvis
osteochondrosis of Legg-Calve-Perthes
pseudocoxalgia
Legg-Calve-Perthes symptom
Legg-Calve-Perthes disease
A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
Dracontiasis
Infection by Dracunculus medinensis
dracunculiasis
A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.
Infection by Dipetalonema
Infection by Dipetalonema perstans
dipetalonema infectious disease
dipetalonemiasis
A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
Gonadal dysgenesis syndrome
gonadal dysgenesis
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
46 XY gonadal dysgenesis
46,XY sex reversal
Pure gonadal dysgenesis 46,XY
Swyer syndrome
The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].
46,XY complete gonadal dysgenesis
A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
mixed gonadal dysgenesis
A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
ovarian dysgenesis
46 XX gonadal dysgenesis
familial hyperkalemic periodic paralysis
hyperkalemic periodic paralysis
Hypokalemic familial periodic paralysis
Periodic paralysis I
Westphal disease
familial hypokalemic periodic paralysis
periodic hypokalemic paralysis
hypokalemic periodic paralysis
An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.
Farmers lung
farmer lung
farmer's lung
Angioma of the orbit
hemangioma of orbit
Cavernous Angioma of orbit
cavernous hemangioma of orbit
A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
neuroleptic malignant syndrome
A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
HPS
hantavirus pulmonary syndrome
A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
Gestational herpes
herpes gestationis
pemphigoid gestationis
lymphoma of ureter
ureteral lymphoma
regional Ureteric carcinoma
regional malignant ureteral tumor
regional ureteric cancer
Dumping (jejunal) syndrome
Jejunal syndrome
dumping syndrome
A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
Acid esterase deficiency
Acid lipase deficiency
Wolman xanthomatosis
Wolman's disease
Wolman's or triglyceride storage type III disease
Xanthomatosis, familial
acute infantile lysosomal acid lipase deficiency
complete LAL deficiency
complete LIPA deficiency
complete cholesterol ester hydrolase deficiency
complete lysosomal acid lipase deficiency
Wolman disease
Lipid proteinosis
URBACH-WIETHE DISEASE
lipoid proteinosis
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
Alpha-galactosidase A deficiency
Angiokeratoma Corporis Diffusum
Fabry Disease, Cardiac Variant
Fabry's disease
alpha galactosidase deficiency
deficiency of melibiase
Fabry disease
A-fucosidase deficiency
alpha fucosidase deficiency
fucosidosis
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
FALDH deficiency
SLS
Sjogren Larsson syndrome
Sjogren-Larsson's syndrome
fatty acid alcohol oxidoreductase deficiency
Sjogren-Larsson syndrome
hereditary ceroid lipofuscinosis
neuronal ceroid lipofuscinosis
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Sphingomyelinase Deficiency Disease
lipoid histiocytosis
sphingomyelin lipidosis
Niemann-Pick disease
A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
11p partial monosomy syndrome
Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
chromosome 11p13 deletion syndrome
WAGR syndrome
Retinal partial arterial occlusion
partial retinal arterial occlusion
partial arterial retinal occlusion
A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
Reye's syndrome
Reye syndrome
MPNST of Heart
malignant cardiac peripheral nerve sheath neoplasm
malignant cardiac germ cell tumour
malignant germ cell tumor of the Heart
malignant germ cell tumour of the Heart
malignant cardiac germ cell tumor
A rete testis neoplasm that derives_from epithelial cells of glandular origin.
adenocarcinoma of the rete testis
adenocarcinoma of rete testis
rete testis adenocarcinoma
A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
seminal vesicle adenocarcinoma
malignant tumor of Sphenoidal sinus
malignant tumor of sphenoid sinus
sphenoidal sinus cancer
A squamous cell carcinoma that is located_in the sphenoid sinus.
Epidermoid carcinoma of the Sphenoidal sinus
sphenoid sinus squamous cell carcinoma
An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
Glossitis areata exfoliativa
Pityriasis linguae
benign migratory glossitis
geographic tongue
glossitis
A thyroid gland disease which involves an underproduction of thyroid hormone.
Thyroid deficiency
Thyroid insufficiency
hypothyroidism
papilledema
prostatitis
A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
Silver Russell Dwarfism
Silver-Russell syndrome
An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.
Anomaly, Rieger's
Axenfeld syndrome
RGS - Rieger syndrome
Rieger's anomaly
Hagedoom syndrome
Axenfeld-Rieger syndrome
An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
diastrophic dysplasia
Rutledge lethal multiple congenital anomaly syndrome
Smith-Opitz-Inborn syndrome
Smith-Lemli-Opitz syndrome
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Galactosemia II
galactokinase deficiency
A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
Radial aplasia-thrombocytopenia syndrome
Thrombocytopenia with absent radii (TAR) syndrome
thrombocytopenia-absent radius syndrome
A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
clinical depression
major depression
recurrent major depression
single major depressive episode
unipolar depression
major depressive disorder
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
GLYCINEMIA, KETOTIC
KETOTIC HYPERGLYCINEMIA
ketotic II glycinemia
ketotic glycinemia
propionic aciduria
propionyl-CoA carboxylase deficiency
propionic acidemia
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
Branchio-Oto-renal syndrome
Branchio-otorenal dysplasia
Melnick-Fraser syndrome
branchiootorenal dysplasia
branchiootorenal syndrome
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
acrocephalosyndactylia type V
Pfeiffer syndrome
A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
myotubular myopathy
centronuclear myopathy
An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
Ehlers-Danlos syndrome, type 1
type I Ehlers-Danlos syndrome
Ehlers-Danlos syndrome classic type 1
An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
HANE
Hereditary angioneurotic edema
hereditary angioedema
A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
trichorhinophalangeal syndrome type 1
type I trichorhinophalangeal syndrome
Trichorhinophalangeal dysplasia type I
trichorhinophalangeal syndrome type I
A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
cerebral gigantism
Sotos syndrome
A benign vascular tumor that is composed of dilated lymphatic channels.
Congenital lymphangioma
benign lymphangioma
lymphangioma
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Isovaleryl-CoA dehydrogenase deficiency
isovaleric acid CoA dehydrogenase deficiency
isovaleric aciduria
isovaleric acidemia
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Argininosuccinate lyase deficiency
argininosuccinic acidemia
arginosuccinase deficiency
deficiency of argininosuccinate lyase
argininosuccinic aciduria
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type IV
autosomal dominant type IV Ehlers-Danlos syndrome
vascular type Ehlers-Danlos syndrome
An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
Ehlers-Danlos syndrome, type 3
type III Ehlers-Danlos syndrome
Ehlers-Danlos syndrome hypermobility type
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
polysyndactyly with peculiars skull shape
Greig cephalopolysyndactyly syndrome
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
acrocephalosyndactyly type III
Saethre-Chotzen syndrome
An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
CHH
McKusick type metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
cartilage-hair hypoplasia
An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
type VIB Ehlers-Danlos syndrome
brittle cornea syndrome 1
A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Dejerine-Thomas syndrome
Thomas' syndrome
WADIA-SWAMI SYNDROME
olivopontocerebellar atrophy
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
LCA
Leber's amaurosis
Leber's congenital amaurosis
Leber's disease
Leber congenital amaurosis
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
hypohidrotic ectodermal dysplasia
A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Dubowitz's syndrome
Dubowitz syndrome
A periodontal disease that is located_in the gums.
gum disease
gingival disease
A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
mucoviscidosis
cystic fibrosis
A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
Echinococcosis of liver
echinococcal disease
hepatic echinococcosis
hydatid disease
hydatidosis
liver echinococcus
pulmonary echinococcosis
echinococcosis
A disease of anatomical entity that is located_in reproductive system organs.
genital system disease
reproductive system disease
A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
disease of mental health
An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
Disseminated candidiasis
systemic candidiasis
candidiasis
A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
anxious personality disorder
avoidant personality disorder
A cervicitis that is present for weeks or more.
chronic cervicitis
An intestinal benign neoplasm that is located_in the cecum.
cecum neoplasm
neoplasm of caecum
cecal benign neoplasm
A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Caecum carcinoma
Cecal cancer
carcinoma of cecum
cecum carcinoma
A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Colonic carcinoma
carcinoma of colon
colon carcinoma
A large intestine cancer that is located_in the cecum.
malignant neoplasm of caecum
malignant tumor of the cecum
cecum cancer
Cecal Lymphoma
cecum lymphoma
Colonic Lymphoma
colon lymphoma
A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
panniculitis
A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
disorder of pleura
non-neoplastic pleural disease
pleural disease
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
malignant mixed cancer
malignant mixed neoplasm
mixed tumor
mixed tumor, malignant
malignant mixed tumor
mixed neoplasm
mixed cell type cancer
An endocrine gland cancer located_in the parathyroid glands located in the neck.
Parathyroid gland neoplasm
carcinoma of Parathyroid gland
malignant neoplasm of parathyroid gland
malignant neoplasm of the Parathyroid
malignant tumor of parathyroid gland
neoplasm of parathyroid gland
parathyroid gland cancer
parathyroid neoplasm
parathyroid gland adenocarcinoma
parathyroid carcinoma
A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
carcinoma of the neck
carcinoma of neck
head and neck carcinoma
A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.
Arthus phenomenon
Arthus type urticaria
arthus reaction
A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.
Angioneurotic oedema
Quincke's edema
angioneurotic edema
giant urticaria
angioedema
A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
cognitive disease
Organic Mental disorder
cognitive disorder
A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
mycosis
mycoses
fungal infectious disease
communicating hydrocephalus
A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Ethanol abuse
alcohol abuse
alcohol use disorder
diffuse systemic sclerosis
systemic sclerosis, diffuse
diffuse scleroderma
A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
laryngeal tuberculosis
A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
acute chest syndrome in sickle cell disease
acute chest syndrome
A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
ACUTE RHEUMATIC FEVER
RhF - Rheumatic fever
rheumatic fever
Auto-immune thrombocytopenia
Immune thrombocytopenia
Thrombocytopenia Due to Immune Destruction
thrombocytopenia due to platelet alloimmunization
renovascular hypertension
A major depressive disorder characterized by near-complete absence of pleasure.
endogenous depression
major depressive disorder with melancholic features
melancholia
melancholic depression
A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
mental depression
depression
depressive disorder
A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
Adenitis
Inflammation of lymph node
acute adenitis
acute lymphadenitis
chronic Lymphadenitis
chronic adenitis
This doid includes the acute and chronic forms.[LS]
lymphadenitis
A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.
hypoglycemic coma
A skin disease characterized_by growth of keratin on the skin or mucous membranes.
keratosis
An organ system cancer that originates in the mammary gland.
breast tumor
malignant neoplasm of breast
malignant tumor of the breast
mammary cancer
mammary tumor
primary breast cancer
mammary neoplasm
breast cancer
A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).
benign eccrine breast spiradenoma
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Complex Fibroadenoma of breast
Fibroadenoma of breast
Juvenile fibroadenoma
cellular Fibroadenoma
fibroadenoma
juvenile fibroadenoma of breast
breast fibroadenoma
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
malignant neoplasm
malignant tumor
primary cancer
Updating out dated UMLS CUI.
cancer
A breast benign neoplasm that has_material_basis_in smooth muscle cells.
breast leiomyoma
A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
Ademoma - breast
breast adenoma
An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
duct papilloma of breast
papilloma of the breast
breast duct papilloma
ductal papilloma
intraductal papilloma
An intraductal breast benign neoplasm that is characterized by fingerlike growth projections.
intraductal papillary breast neoplasm
A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.
breast myofibroblastoma
A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
Cystosarcoma phyllodes
Phyllodes neoplasm
benign Phyllodes neoplasm
benign Phyllodes neoplasm of the breast
benign cystosarcoma phyllodes
benign breast phyllodes tumor
A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.
breast angiomatosis
A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.
benign Adenomyoepithelioma of the breast
benign breast adenomyoepithelioma
A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
breast Adenomyoepithelioma with malignant Change
malignant adenomyoepithelioma of breast
adenomyoepithelioma of the breast
breast adenomyoepithelioma
A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Interventricular septal defect
Ventricular septal abnormality
ventricular septal defect
A brain cancer that is located in the supratentorial region.
Brain neoplasm, Supratentorial
malignant Supratentorial tumor
supratentorial cancer
Infantile Melanotic neuroectodermal neoplasm
Melanotic neuroectodermal tumor of infancy
Melanotic neuroectodermal tumour of infancy
Pigmented neuroectodermal tumour of infancy
melanotic neuroectodermal tumour
melanotic neuroectodermal tumor
Pineal Region germ cell tumor
malignant Pineal Parenchymal germ cell tumor
pineal germ cell tumor
malignant pineal area germ cell neoplasm
A pineal gland neoplasm located_in the brain.
Pineal PNET
pineoblastoma
Arthropathy in Behcet's syndrome involving ankle and foot
Arthropathy in Behcet's syndrome involving forearm
Arthropathy in Behcet's syndrome involving hand
Arthropathy in Behcet's syndrome involving lower leg
Arthropathy in Behcet's syndrome involving multiple sites
Arthropathy in Behcet's syndrome involving pelvic region and thigh
Arthropathy in Behcet's syndrome involving shoulder region
Arthropathy in Behcet's syndrome involving upper arm
Behcet syndrome arthropathy
Behcet's syndrome arthropathy
A bladder disease that is characterized by inflammation of the bladder.
cystitis
Cardiac septal defects
Congenital septal defect of heart
septal defect
heart septal defect
A physical disorder that is characterized by problems with the heart's structure that are present at birth.
Congenital Heart Defects
Congenital anomaly of heart
Heart Malformation
congenital heart defect
heart defect
Heart-congenital defect
congenital heart disease
An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
glaucoma
An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
neuroendocrine neoplasm
neuroendocrine tumor
A disease of anatomical entity that occurs in the muscular and/or skeletal system.
musculoskeletal system disease
An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Endocrine tumor
endocrine neoplasm
malignant Endocrine tumor
malignant neoplasm of endocrine gland
malignant tumour of endocrine gland
neoplasm of endocrine gland
neoplasm of endocrine system
endocrine gland cancer
An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
X-linked ichthyosis with steryl-sulphatase deficiency
X-linked placental steryl-sulphatase deficiency
X-linked recessive ichthyosis
X-linked ichthyosis
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
Dominant congenital ichthyosiform erythroderma
ichthyosis vulgaris
Richter syndrome
Richter's syndrome
An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
Aortic stenosis
Rheumatic aortic stenosis
rheumatic aortic valve stenosis
aortic valve stenosis
Pale (Clear cell) acanthoma
clear cell acanthoma
Curling Ulcer
Curling's ulcers
Stress Ulcer
Adding UMLS CUI for Curling Ulcer C0013295.
duodenal ulcer
Partial Retinal Vein Occlusion
Partial occlusion of retinal vein
partial of retinal vein occlusion
Occlusion, of retinal vein
retinal vein occlusion
Retinal vasc. occlusion
retinal vascular occlusion
Eccrine tumor
eccrine skin neoplasm
eccrine sweat gland neoplasm
A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
histoplasmosis
A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
Cryptosporidial gastroenteritis
Infection by Cryptosporidium
intestinal cryptosporidiosis
cryptosporidiosis
neoplasm of duodenum
neoplasm of the duodenum
duodenal benign neoplasm
A small intestine benign neoplasm that is located_in the small intestine.
leiomyoma, small Bowel
small intestine leiomyoma
acanthoma
A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
Conjunctival Epidermoid carcinoma
invasive squamous cell carcinoma of the conjunctiva
ocular surface squamous neoplasia
squamous cell carcinoma of conjunctiva
conjunctival squamous cell carcinoma
A carcinoma that derives_from squamous epithelial cells.
SCC
epidermoid carcinoma
malignant squamous cell tumor
squamous carcinoma
squamous cell Epithelioma
squamous cell cancer
squamous cell carcinoma
A cardiovascular cancer that is located_in blood vessels.
Blood vessel tumor
Blood vessel tumors
Blood vessel tumour disorder
Haemangiomatous tumour
blood vessel neoplasm
leiomyosarcoma of the renal Vein
malignant great vessel tumor
malignant tumor of pulmonary Vein
malignant tumor of pulmonary artery
malignant vascular neoplasm
malignant vascular tumor
neoplasm of great vessel
pulmonary artery malignant neoplasm
pulmonary vein malignant neoplasm
renal vein leiomyosarcoma
vascular tissue neoplasm
vascular tumors
vascular cancer
Conjunctival melanoma
malignant melanoma of conjunctiva
malignant conjunctival melanoma
A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
Mitral stenosis
mitral valve stenosis
A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
facial nerve disease
PARRY-ROMBERG SYNDROME
facial hemiatrophy
An organ system cancer that located_in the heart and blood vessels.
Cardiovascular tumors
cardiovascular neoplasm
cardiovascular cancer
neoplasm of facial nerve
tumor of Facial nerve
facial nerve neoplasm
Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
Melkersson's syndrome
Melkersson-Rosenthal syndrome
A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
cheilitis
A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
vascular tissue disease
vascular disease
An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.
Thyroid gland neoplasm
malignant neoplasm of thyroid gland
malignant tumour of thyroid gland
neoplasm of thyroid gland
thyroid gland cancer
thyroid neoplasm
thyroid cancer
An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
Pituitary gland neoplasm
malignant Pituitary neoplasm
malignant tumor of pituitary gland
neoplasm of pituitary gland
pituitary gland cancer
pituitary neoplasm
pituitary cancer
Adrenal Rest neoplasm
adrenal rest tumor
A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
pericarditis
A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
Advanced malignant Mesothelioma of Peritoneum
advanced malignant peritoneal mesothelioma
malignant mesothelioma of peritoneum
peritoneal mesothelioma
Mesothelioma of Peritoneum
benign peritoneal mesothelioma
A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.
Diffuse malignant Mesothelioma
advanced malignant mesothelioma
asbestos-related malignant mesothelioma
malignant tumor of Mesothelium
malignant mesothelioma
A peritoneum cancer that is located_in the inside of the abdomen.
primary peritoneal carcinoma
peritoneal carcinoma
Lymphoma of pancreas
pancreas lymphoma
An endocrine gland cancer located_in the pancreas.
Ca body of pancreas
Ca head of pancreas
Ca tail of pancreas
malignant neoplasm of body of pancreas
malignant neoplasm of head of pancreas
malignant neoplasm of tail of pancreas
pancreas neoplasm
pancreatic neoplasm
pancreatic tumor
pancreatic cancer
A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
malignant neoplasm of the Exocrine pancreas
malignant tumor of exocrine pancreas
malignant tumour of exocrine pancreas
malignant exocrine pancreas neoplasm
A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
sarcoma of pancreas
pancreas sarcoma
An islet cell tumor that has_material_basis_in epithelial cells.
Islet cell carcinoma
carcinoma of endocrine pancreas
malignant neoplasm of islets of Langerhans
pancreatic neuroendocrine carcinoma
pancreatic endocrine carcinoma
A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
Non-neoplastic urinary tract disease
urinary tract disease
urinary system disease
A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
Fibro-osteoma
peripheral ossifying fibroma
ossifying fibroma
A carcinoma that derives_from neuroendocrine cells.
neuroendocrine carcinoma
peripheral neuritis
neuritis
reflex sympathetic dystrophy
A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
Pathologically calcified structure
pathologic calcification
calcinosis
Grand mal status
status epilepticus
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
petit mal seizure
pyknolepsy
absence seizure
childhood absence epilepsy
A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
epilepsy syndrome
epileptic syndrome
epilepsy
An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
idiopathic generalized epilepsy
generalized epilepsy
mononeuritis multiplex
A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.
DIABETES MELLITUS, KETOSIS-PRONE
ketosis-prone diabetes mellitus
diabetic ketoacidosis
COPPER TRANSPORT DISEASE
Menkes kinky-hair syndrome
steely hair syndrome
Menkes disease
A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
CA - bone cancer
bone neoplasm
bone tumour
malignant bone neoplasm
malignant bone tumour
malignant neoplasm of bone
malignant osseous tumor
neoplasm of bone
osseous tumor
bone cancer
A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
cannabis dependence
A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
neonatal intrahepatic cholestasis
intrahepatic cholestasis
A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
cherubism 1
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
fibrous dysplasia of bone
osteitis fibrosa disseminata
polyostotic fibrous dysplasia
McCune Albright syndrome
skull cancer
central giant cell (reparative) granuloma
central giant cell granuloma
central giant cell reparative granuloma of jaw
giant cell reparative granuloma
A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
Sexual impotence
erectile dysfunction
impotence
A male reproductive system disease that is characterized by disturbances in sexual desire or performance.
sexual dysfunction
A heart septal defect located_in in the septum that separates the two atria of the heart.
atrial septal defect
atrioseptal defect
auricular septal defect
congenital atrial septal defect
interatrial septal defect
interauricular septal defect
atrial heart septal defect
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
NANBH
Viral hepatitis C
chronic hepatitis C
hepatitis C infection
hepatitis nonA nonB
hepatitis C
A cranial nerve disease that is located_in the optic nerve.
disorder of the second nerve
optic nerve disorder
optic neuropathy
optic nerve disease
A vaginal cancer that has_material_basis_in connective tissue.
sarcoma of the vagina
vagina sarcoma
malignant fibrous histiocytoma of skin
vaginal melanoma
malignant skin fibrous histiocytoma
Fibroxanthosarcoma
MFH
malignant fibrous histiocytoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Naevocarcinoma
malignant melanoma
melanoma
A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.
vaginal Yolk Sac neoplasm
vaginal endodermal sinus neoplasm
vaginal yolk sac tumor
A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
Hepatoid yolk sac tumour
Yolk Sac neoplasm
Yolk sac tumour
endodermal sinus tumour
infantile embryonal carcinoma
yolk sac tumor
endodermal sinus tumor
A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
HG-PRT deficiency
HPRT1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine-phosphoribosyltransferase deficiency
Lesch - Nyhan syndrome
X-linked hyperuricemia
deficiency of IMP pyrophosphorylase
hypoxanthine guanine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome
A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
Sex Cord-Stromal neoplasm
Sex cord stromal tumour
Specialized gonadal neoplasm
Specialized gonadal tumor
Specialized gonadal tumour
sex cord-gonadal stromal tumour
sex cord-gonadal stromal tumor
An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Blood urate raized
uricacidemia
hyperuricemia
A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
47, XXY
Hypogonadotropic Hypogonadism
Klinefelter's syndrome
XXY syndrome
XXY trisomy
No OMIM mapping, confirmed by DO. [LS].
Klinefelter syndrome
A gonadal disease that is characterized by diminished functional activity of the gonads.
hypogonadism
An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
Dwarfism-Onychodysplasia
Fifth Digit Syndrome
Short Stature-Onychodysplasia.
Coffin-Siris syndrome
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Gaucher disease
acid beta-glucosidase deficiency
glocucerebrosidase deficiency
glucosylceramide beta-glucosidase deficiency
kerasin thesaurismosis
Gaucher's disease
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
sphingolipidoses
sphingolipidosis
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
Fanconi Schlesinger syndrome
WBS
Williams-Beuren syndrome
An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
Supra-valvular aortic stenosis
supravalvular aortic stenosis
An organ system cancer that is manifested in the reproductive organs.
Reproductive tumor
malignant reproductive system neoplasm
cancer of reproductive system
reproductive organ cancer
A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
LNMS
Laurence-Moon-Biedl syndrome
Laurence-Moon syndrome
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
happy puppet syndrome
puppetlike syndrome
Angelman syndrome
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Broad Thumb-Hallux syndrome
Rubinstein syndrome
proximal chromosome 16p13.3 deletion syndrome
Rubinstein-Taybi syndrome
A bone development disease that results in defective ossification of bone.
dysostosis
A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Bardet-Biedl syndrome
An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.
atherosclerosis
telogen effluvium
A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
trichomonas infection
trichomoniasis
A cholangitis that is characterized by an inflammation that is located in the gallbladder.
acute and chronic cholecystitis
acute cholecystitis
acute on chronic cholecystitis
chronic cholecystitis
cholecystitis
A female reproductive system disease that is located_in the fallopian tube.
fallopian tube disease
A fallopian tube cancer that is located_in the fallopian tube.
cancer of the fallopian tube
carcinoma of fallopian tube
fallopian tube Ca
fallopian tube carcinoma
A female reproductive organ cancer that is located_in fallopian tube.
fallopian tube neoplasm
malignant neoplasm of uterine tube
malignant tumor of fallopian tube
malignant tumour of fallopian tube
neoplasm of fallopian tube
tumor of the fallopian tube
tumor, fallopian tube, malignant
fallopian tube cancer
A fallopian tube cancer that dervies_from smooth muscle cells.
fallopian tube leiomyosarcoma
A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
Leiomyosarcomas
leiomyosarcoma
A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
infantile cerebral palsy
cerebral palsy
A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
fallopian tube malignant mixed Mullerian tumor
fallopian tube malignant mixed mesodermal (mullerian) tumor
fallopian tube carcinosarcoma
A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
fallopian tube mullerian adenosarcoma
fallopian tube adenosarcoma
A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
mullerian Adenosarcoma
adenosarcoma
An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.
Thymolipoma
thymus lipoma
An intestinal benign neoplasm located_in the rectum.
Rectal tumor
neoplasm of rectum
rectum neoplasm
rectal benign neoplasm
Lymphoma of rectum
rectum lymphoma
malignant melanoma of rectum
melanoma of rectum
rectum malignant melanoma
A colorectal cancer that is located_in the rectum.
carcinoma of rectum
carcinoma of the rectum
malignant Rectal tumor
malignant neoplasm of rectum
malignant rectum tumor
malignant tumor of rectum
rectal cancer
cancer of rectum
rectum cancer
A sarcoma and malignant tumor of rectum that is located_in the rectum.
sarcoma of rectum
rectum sarcoma
A rectum cancer that derives_from epithelial cells of glandular origin.
Rectal adenocarcinoma
rectum adenocarcinoma
benign giant cell tumor
A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
neuroma
Macular puckering of retina
Macular retinal puckering
cellophane maculopathy
preretinal fibrosis
A female reproductive organ cancer that is located_in the placenta.
Placental tumors
malignant Placental tumor
malignant neoplasm of placenta
neoplasm of placenta
placental cancer
primary malignant neoplasm of placenta
placenta cancer
A gestational choriocarcinoma that is located_in the placenta.
Choriocarcinoma of the Placenta
placental choriocarcinoma
A choriocarcinoma that develops in the presence of a preceding gestational event.
Gestational chorionepithelioma
Molar pregnancy with choriocarcinoma
gestational choriocarcinoma
A hyperostosis that involves formation of new bone on the surface of preexisting bone.
bone spur
bony outgrowth
orbital exostosis
osteophyte
swimmer's exostosis
exostosis
A cognitive disorder that involves an excessive, irrational dread of everyday situations.
anxiety
anxiety state
anxiety disorder
A specific developmental disorder that involves specific developmental disorders of speech and language.
communication disorder
A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
encephalomalacia
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
chronic hepatitis B
hepatitis B infection
Serum hepatitis
hepatitis B
An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
Autoimmune chronic active hepatitis
autoimmune hepatitis with centrilobular necrosis
autoimmune hepatitis
A bone remodeling disease that results in an abnormal growth of located in bone.
bone hypertrophy
hypertrophy of bone
hyperostosis
A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
maxillary sinusitis
reactive cutaneous fibrous lesion
An anxiety disorder which results from a traumatic experience that results in psychological trauma.
PTSD
traumatic neurosis
post-traumatic stress disorder
A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.
chronic mucocutaneous candidiasis
A female reproductive system disease that is located_in the vulva.
vulvar disease
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
Multiple congenital exostosis
Multiple exostosis syndromes
Osteochondromatosis syndrome
hereditary multiple exostoses 1
hereditary multiple exostoses 2
hereditary multiple exostoses 3
multiple ostechondromas
hereditary multiple exostoses
A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.
vulvar nodular hidradenoma
A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching.
vulvar syringoma
syringoma
A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
Fordyce angiokeratoma of vulva
vulvar angiokeratoma
Bartholin gland neoplasm
tumor of Bartholin's gland
Bartholin's gland benign neoplasm
vulvar squamous papilloma
A vulva cancer that has_material_basis_in squamous tissue.
vulvar squamous tumor
Perforation of intestine
intestinal perforation
A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
adenoma of minor vestibular glands
minor vestibular glands adenoma
A vulva cancer that has_material_basis_in glandular tissue.
vulvar glandular tumor
chondroid syringoma of the vulva
Eccrine mixed tumor
Eccrine mixed tumour
eccrine mixed tumour of skin
mixed Eccrine neoplasm of the skin
eccrine mixed tumor of skin
A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
vulvar trichoepithelioma
A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
reviewed 10/2022 & determined to be a symptom
obsolete constipation
transient arthritis
A vulva cancer that has_material_basis_in melanocytes.
malignant melanoma of vulva
vulvar melanoma
malignant neoplasm of sweat gland
malignant tumor of the Sweat gland
sweat gland cancer
A vulva cancer that has_material_basis_in connective tissue.
sarcoma of vulva
vulvar sarcoma
A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
Paget's disease of vulva
Vulvar Paget's disease
vulval Paget disease
vulval Paget's disease
A vulva carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of Vulva
adenocarcinoma of the vulva
vulva adenocarcinoma
A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
Vulvar Epidermoid carcinoma
vulvar squamous cell carcinoma
squamous cell carcinoma of vulva
vulva squamous cell carcinoma
A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Batten Turner congenital myopathy
Thomsen and Becker disease
myotonia congenita
A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
Infection by Isospora belli and Isospora hominis
Isosporosis
isosporiasis
cystoisosporiasis
A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
intestinal coccidiosis
coccidiosis
A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
FDH
FODH
Goltz syndrome
Goltz-Gorlin syndrome
focal dermal hypoplasia
A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Congenital ectodermal defect
Congenital ectodermal dysplasia
ectodermal dysplasia
A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells.
germinoma of the brain
intracranial germinoma
brain germinoma
A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
AT/RT
ATRT
Atypical teratoid/rhabdoid tumor
Atypical teratoid/rhabdoid tumour
Rhabdoid tumor of the CNS
Rhabdoid tumour of the CNS
atypical teratoid rhabdoid tumour
atypical teratoid rhabdoid tumor
A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm.
sarcoma of the brain
brain sarcoma
A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
sarcoma of the CNS
central nervous system sarcoma
malignant neoplasm of temporal lobe
neoplasm of temporal lobe
tumor of Temporal Lobe
temporal lobe neoplasm
urethral urothelial papilloma
An urethral benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urethra
urethra leiomyoma
An ovarian cancer that derives_from mesothelial tissue.
ovarian malignant mesothelioma
An ovarian cancer that is characterized by cystic structure.
malignant ovarian cyst
An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
sarcoma of Ovary
ovary sarcoma
An ovarian cancer that arises_from lymphocytes.
ovarian lymphoma
An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
malignant ovarian surface epithelial-stromal neoplasm
An ovarian cancer that is derives_from ovarian surface epithelium.
Ovarian Surface epithelial-Stromal tumor
ovary epithelial cancer
A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
ovarian Wilms' tumor
ovarian Wilms' cancer
A kidney cancer that affects the kidneys and typically occuring in children.
adult nephroblastoma
Wilms' tumor
nephroblastoma
malignant Ovarian germ cell tumor
malignant germ cell tumor of ovary
malignant ovarian germ cell neoplasm
An ovarian cancer that originates in the germ (egg) cells of the ovary.
germ cell neoplasm of Ovary
germ cell tumor of ovary
ovarian germ cell tumor
ovarian germ cell cancer
A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
Dental caries extending into pulp
Dental caries of smooth surface
Dental caries pit and fissure
dental caries
nasal cavity disease
A vaginal disease that is characterized by inflammation of the vagina.
vaginitis
tumor of the eyelid
eyelid benign neoplasm
A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
Ocular tumor
eye neoplasm
malignant eye neoplasm
neoplasm of eye
neoplasm of eye proper
ocular cancer
A colorectal cancer that is located_in the colon.
colon cancer
A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
Factor XIII deficiency disease
Hereditary factor XIII deficiency disease
deficiency, Laki-Lorand factor
factor XIII deficiency
A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
deficiency, stable
factor VII deficiency
Hereditary hypoproaccelerinaemia
Labile factor deficiency
Proaccelerin deficiency
deficiency, labile
factor V deficiency
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
Bernard - Soulier thrombopathy
Bernard Soulier syndrome
Giant platelet syndrome
Hemorrhagic dystrophic thrombocytopenia
Thrombopathy, Bernard-Soulier
Bernard-Soulier syndrome
A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
Thrombocytopathy
platelet disorder
blood platelet disease
A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
BDPLT2
Glanzmann thrombasthenia
Glycoprotein IIb/IIIa defect
Thrombocytasthenia
deficiency of GP IIb-IIIa complex
deficiency of glycoprotein complex IIb-IIIa
deficiency of platelet fibrinogen receptor
platelet glycoprotein IIb-IIIa deficiency
platelet-type bleeding disorder 2
thrombasthenia of Glanzmann and Naegeli
Glanzmann's thrombasthenia
A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
disease, Stuart-Prower
factor X deficiency
A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
Essential thrombocythaemia
familial thrombocytosis
hemorrhagic thrombocythemia
hereditary thrombocythemia
primary Thrombocytosis
essential thrombocythemia
A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
CMPD
CMPD, U
chronic myeloproliferative disease
myeloproliferative neoplasm
A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
Thrombocythaemia
thrombocytosis
A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
Congenital factor XI deficiency
Hereditary factor XI deficiency disease
Rosenthal's disease
hemophilia C
plasma thromboplastin antecedent deficiency
factor XI deficiency
Basilar artery syndrome
basilar artery insufficiency
A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
Factor XII deficiency disease
Hageman Factor deficiency
deficiency, Hageman
factor XII deficiency
An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
localisation-related epilepsy
partial epilepsy
focal epilepsy
A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
Congenital factor II deficiency
Hereditary factor II deficiency disease
hypoprothrombinemia
Factor II deficiency
prothrombin deficiency
A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
Factor I deficiency
Fibrinogen deficiency
congenital afibrinogenemia
A liver disease that is characterized as an inflammation of the liver.
acute and subacute liver necrosis
acute hepatitis
acute/subac. necrosis of liver
animal hepatitis
chronic hepatitis
chronic persistent hepatitis
hepatitis
granulomatous hepatitis
A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
TIA
TIA - Transient ischaemic attack
Transient cerebral ischaemia
Transient ischemic attacks
transient ischemic attack
transient cerebral ischemia
A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
syndrome
An uterine disease that is located_in the cervix.
cervix disease
A bone development disease that results_in defective development of cartilage or bone.
Cartilage Development disorder
Congenital anomaly of cartilage
Osteochondrodysplasia syndrome
chondrodystrophy
skeletal dysplasia
osteochondrodysplasia
An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
ankylosis
A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
Candidal cervix
Candidal vulvovaginitis
Candidiasis of vulva and vagina
Monilial vulvovaginitis
vulvovaginal candidiasis
A female reproductive system disease that is characterized by inflammation of the vagina and vulva.
Vulvo-vaginitis
vulvovaginitis
An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
Inflamed throat
Persistent sore throat
Pharyngeal disorder
Pharyngitis - acute
Sore throat - chronic
acute pharyngitis
acute sore throat
chronic pharyn/nasopharyngitis
chronic pharyngitis
chronic pharyngitis and nasopharyngitis
chronic sore throat
pharyngeal disease
pharyngitis
An endocrine system disease that is located_in the gonads.
gonadal disease
A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
Acne inversa, familial
hidradenitis suppurativa
A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
Hydradenitis
hidradenitis
keratopathy
cutaneous lymphangioma
capillary lymphangioma
A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
Fort Bragg fever
Leptospirosis icterohaemorrhagica
Rat Catcher's Yellows
Weil's disease
nanukayami fever
spirochetal jaundice
leptospirosis
A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
adult-onset primary lateral sclerosis
primary lateral sclerosis
lateral sclerosis
A bone structure disease that involves a defect located_in lumbar vertebral column.
spondylolysis
An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
Nocardia infectious disease
nocardiosis
A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
cholera morbus
infectious colitis, enteritis and gastroenteritis
gastroenteritis
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting.
viral gastritis
A jaw cancer and mandibular disease that affects your lower jawbone.
malignant neoplasm of inferior maxilla
malignant neoplasm of lower Jaw bone
mandible cancer
neoplasm of mandible
malignant neoplasm of mandible
mandibular neoplasm
mandibular cancer
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
Craniofacial Dysostosis
Crouzon's disease
Crouzon syndrome
A colon carcinoma that derives_from epithelial cells of glandular origin.
Colonic adenocarcinoma
adenocarcinoma of colon
adenocarcinoma of the colon
colon adenocarcinoma
A synostosis that results_in premature fusion located_in skull.
Premature closure of cranial sutures
craniosynostosis
polyclonal hypergammaglobulinemia
An atherosclerosis that is not localized.
Generalised atherosclerosis
generalized atherosclerosis
An arteriosclerosis that results in cardiovascular disease.
Cardiovascular arteriosclerosis
arteriosclerotic cardiovascular disease
An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Arteriosclerotic vascular disease
arteriosclerosis
An intestinal benign neoplasm that is located_in the colon.
Colonic Mass
Colonic tumor
colon neoplasm
neoplasm of colon
colonic benign neoplasm
A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
Haemochromatosis
diabetes bronze
iron storage disorder
hemochromatosis
A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
anaemia
anemia
An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).
ANEMIA MACROCYTIC
Macrocytic anaemia
macrocytic anemia
neuroaxonal dystrophy
A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
Congenital elliptocytosis
ovalocytosis
hereditary elliptocytosis
A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Generalized multiple sclerosis
insular sclerosis
multiple sclerosis
A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
RRMS
Relapsing-remitting MS
relapsing-remitting multiple sclerosis
A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
bilirubin encephalopathy
kernicterus
A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
neonatal hyperbilirubinemia
neonatal icterus
neonatal jaundice
renal vascular disease
vascular disorder of kidney
renal artery disease
cystitis glandularis
glandular cystitis
A female reproductive organ cancer that is located_in the ovary.
malignant Ovarian tumor
malignant tumour of ovary
ovarian neoplasm
ovary neoplasm
primary ovarian cancer
tumor of the Ovary
ovarian cancer
iris disease
A vulva cancer that is located_in the clitoris.
Clitoral Ca
carcinoma of Clitoris
clitoral cancer
malignant neoplasm of clitoris
malignant tumor of Clitoris
clitoris cancer
granular cell neoplasm of the skin
granular cell tumor of skin
granular cell tumour of skin
skin granular cell tumour
skin granular cell tumor
neoplasm of granular cell
granular cell tumor
Ganglioneuroma of skin
cutaneous ganglioneuroma
A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
gangliocytoma of central nervous system
gangliocytoma
Glomus skin neoplasm
Glomus tumor of skin
Glomus tumour of skin
skin glomus tumour
skin glomus tumor
A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
Glomus neoplasm
Glomus tumour
glomus tumor
neoplasm of skin with adnexal differentiation
neoplasm of the skin Appendage
skin appendage tumour
epidermal appendage tumor
Cutaneous Glomangioma
Glomangioma of skin
skin glomangioma
A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.
Glomuvenous Malformation
glomangioma
dermis tumour
neoplasm of Dermis
tumor of dermis
tumour of dermis
dermis tumor
A squamous cell carcinoma that is located_in the frontal sinus.
Epidermoid carcinoma of the Frontal sinus
frontal sinus squamous cell carcinoma
A paranasal sinus cancer that derives_from squamous epithelial cells.
epidermoid carcinoma of the paranasal sinus
squamous cell carcinoma of paranasal sinus
paranasal sinus squamous cell carcinoma
A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
acromegaly
central retinal vein occlusion
A thrombophilia that is characterized by increased risk of developing abnormal blood clots.
Protein S deficiency disease
protein S deficiency
A blood coagulation disease that is characterized by an increased tendency to form clots.
hypercoagulability state
thrombophilia
A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
blepharoconjunctivitis
giant papillary conjunctivitis
papillary conjunctivitis
retina circulation disorder
retinal vascular disease
vernal conjunctivitis
chronic conjunctivitis
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
French settlement disease
Strumpell-Lorrain disease
familial spastic paraplegia
hereditary spastic paraparesis
hereditary spastic paraplegia
A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
HSMN
HSMN - Hereditary sensory and motor neuropathy
Hereditary motor and sensory neuropathy
Peripheral Motor Neuropathy
neuropathic muscular atrophy
motor peripheral neuropathy
A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
leiomyoma of the Trachea
trachea leiomyoma
Phosphorus disorder
disorder of phosphorus metabolism
phosphorus metabolism disorder
phosphorus metabolism disease
A neuropathy that involves damage to sensory nerves of the peripheral nervous system.
peripheral Sensory Neuropathy
sensory neuropathy
sensory peripheral neuropathy
Watermelon stomach
gastric antral vascular ectasia
Senile hemangioma
Senile naevus of skin
senile angioma
A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
Aortic arch arteritis
Idiopathic aortitis
Takayasu arteritis
Takayasu's disease
aortic arch syndrome
Takayasu's arteritis
An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
Klver-Bucy syndrome
Kluver-Bucy syndrome
A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
Gorlin syndrome
NBCCS
basal cell nevus syndrome
nevoid basal cell carcinoma syndrome
A skin carcinoma affecting basal cells.
Basal cell cancer
Basal cell carcinoma of skin
Basal cell neoplasm
Basal cell tumor
Epithelioma basal cell
Rodent ulcer
malignant Basal cell neoplasm
malignant basal cell tumor
basal cell carcinoma
intracranial Cavernoma
intracranial cavernous angioma
Angioma of intracranial Structure
hemangioma of intracranial structure
hemangioma of intracranial structures
intracranial structure hemangioma
Inflammation of testis
Orchititis
orchitis
disorder of testis
testis disorder
testicular disease
A prostate carcinoma that derives_from epithelial cells of glandular origin.
prostate adenocarcinoma
Dyssplenism
Spleen disease
splenic disease
splenic abscess
An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
Hematologic malignancy
Hematologic neoplasm
Hematological tumors
blood cancer
hematopoietic and lymphoid system tumor
hematopoietic cancer
hematopoietic neoplasm
hematopoietic tumors
malignant hematopoietic neoplasm
hematologic cancer
chronic inflammatory demyelinating polyneuritis
A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
acquired epileptic aphasia
Landau-Kleffner syndrome
hemangioma of intra-abdominal structures
hemangioma, Intra-abdominal
hemangioma of intra-abdominal structure
An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
extratemporal epilepsy
A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
epilepsy, sensory-induced
reflex epilepsy
A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.
hemangioma
tactile epilepsy
granulomatous angiitis
A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
Chondromalacia, systemic
relapsing polychondritis
Splenic hemangioma
hemangioma of spleen
Apical abscess
Dentoalveolar abscess
Periapical abscess
Suppurative apical periodontitis
suppurative periapical periodontitis
A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
Fehr corneal dystrophy
MACULAR DYSTROPHY, CORNEAL, 1
macular corneal dystrophy
corneal dystrophy
A cervix disease that is characterized by inflammation of the cervix.
cervicitis
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
Histiocytosis X
Langerhan's cell histiocytosis
Langerhans cell granulomatosis
Letterer-Siwe disease
Letterer-Siwe disease involving intra-abdominal lymph nodes
Letterer-Siwe disease involving intrapelvic lymph nodes
Letterer-Siwe disease involving intrathoracic lymph nodes
Letterer-Siwe disease involving lymph nodes of axilla and upper limb
Letterer-Siwe disease involving lymph nodes of head, face and neck
Letterer-Siwe disease involving lymph nodes of head, face, and neck
Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb
Letterer-Siwe disease involving lymph nodes of multiple sites
Letterer-Siwe disease involving spleen
Letterer-Siwe disease of intra-abdominal lymph nodes
Letterer-Siwe disease of intrapelvic lymph nodes
Letterer-Siwe disease of intrathoracic lymph nodes
Letterer-Siwe disease of lymph nodes of axilla and upper limb
Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
Letterer-Siwe disease of lymph nodes of head, face and neck
Letterer-Siwe disease of lymph nodes of head, face and/or neck
Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
Letterer-Siwe disease of lymph nodes of multiple sites
Letterer-Siwe disease of spleen
Langerhans-cell histiocytosis
A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
Chondrodysplasia Punctata, Rhizomelic Form
rhizomelic chondrodysplasia punctata
A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Chondrodysplasia punctata congenita
DeObs MGI.
chondrodysplasia punctata
A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
acatalasemia
deficiency of catalase
acatalasia
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
IGHM
hypogammaglobulinemia
mu heavy chain deficiency
agammaglobulinemia
A nephrotic syndrome that has_material_basis_in genetic mutations.
Congenital nephrotic syndrome
familial nephrotic syndrome
Ca larynx - glottis
malignant tumor of glottis
malignant tumor of the Glottis
glottis cancer
A respiratory system cancer that is located_in the larynx.
larynx cancer
neoplasm of glottis
tumor of the Glottis
glottis neoplasm
laryngeal tumor
larynx neoplasm
neoplasm of larynx
laryngeal benign neoplasm
Glottic carcinoma
carcinoma of glottis
glottis carcinoma
A larynx cancer that has_material_basis_in epithelial cells.
cancer of larynx
carcinoma of larynx
laryngeal carcinoma
Periosteal Chondroma
juxtacortical chondroma
A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
central Chondroma
chondroma
A cell type benign neoplasm that has_material_basis_in gland and muscle components.
adenomyoma
serous surface papilloma
A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
papillomatosis
papilloma
A kidney cancer which is manifested in the kidney.
hemangiopericytoma of kidney
renal hemangiopericytoma
kidney hemangiopericytoma
A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
tumor of Autonomic nervous system
autonomic nervous system neoplasm
childhood choroid plexus papilloma
choroid plexus papilloma
A urinary system cancer that is located_in the kidney.
malignant neoplasm of kidney except pelvis
malignant tumour of kidney
renal cancer
kidney cancer
A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
Micropapillary serous carcinoma
Papillary serous carcinoma
serous surface papillary carcinoma
papillary serous adenocarcinoma
An adenoma that forms a cyst.
Cystoma
cystadenoma
An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
benign ovarian Brenner tumor
benign ovarian Brenner tumour
ovarian Brenner tumour
ovarian Brenner tumor
A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
Pericanalicular Fibroadenoma of breast
Pericanalicular fibroadenoma
breast pericanalicular fibroadenoma
A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
Haemangiopericytic meningioma
hemangiopericytoma, malignant
malignant hemangiopericytoma
hemangiopericytoma
An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
benign struma ovarii
struma ovarii
A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.
Ovarian Monodermal and Highly Specialized teratoma
ovarian germ cell monodermal and highly specialized teratoma
PEComa
neoplasm with Perivascular epithelioid cell differentiation
perivascular epithelioid cell tumor
A cell type benign neoplasm that has_material_basis_in mesothelium.
benign tumor of Mesothelium
benign mesothelioma
parachordoma
adenoma of the Sebaceous gland
skin appendage sebaceous adenoma
sebaceous adenoma
A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
Chondroblastoma of bone
chondroblastoma
An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
Splenic hemangiosarcoma
angiosarcoma of spleen
spleen angiosarcoma
fibrous mesothelioma, benign
localized benign fibrous Mesothelioma
benign fibrous mesothelioma
A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.
breast intracanalicular fibroadenoma
A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
Dermoid choristoma
Dermoid tumour
Mature cystic teratoma
cystic dermoid choristoma
teratoma, benign
dermoid cyst
A benign teratoma that is characterized by the presence of cysts or cystic spaces.
cystic teratoma
A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
Myoepithelial adenoma
Myoepithelial neoplasm
benign myoepithelioma
myoepithelioma
Sweat gland tumor
neoplasm of sweat gland
tumor of the Sweat gland
sweat gland benign neoplasm
mesenchymoma
Pacinian neurofibroma
Pacinian tumor
transitional cell papilloma
transitional cell papilloma, benign
transitional papilloma
A carcinoma that derives_from transitional epithelial cells.
transitional carcinoma
transitional cell tumor
urothelial cell carcinoma
transitional cell neoplasm
transitional cell carcinoma
A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour
adult cystic nephroma
Dysembryoplastic Neuroepithelial neoplasm
dysembryoplastic neuroepithelial tumour
dysembryoplastic neuroepithelial tumor
An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
angiosarcoma of liver
hemangiosarcoma of the Liver
liver angiosarcoma
Ossifying Fibromyxoma
ossifying fibromyxoid tumour
ossifying fibromyxoid tumor
A sarcoma that is located_in the skin.
Cutaneous sarcoma
skin sarcoma
A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
Lymphangiosarcoma of Stewart and Treves
Stewart-Treves syndrome
malignant Lymphangioendothelioma
skin lymphangiosarcoma
lymphangiosarcoma
A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
benign neoplasm of the Muscle
myoma
A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
Leydig cell neoplasm
Leydig cell tumor
renal cell adenoma
renal adenoma
Metanephric adenofibroma
nephrogenic adenofibroma
A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
hepatic sarcoma
liver sarcoma
An adenofibroma that is characterized by the presence of mucin.
mucinous adenofibroma
Synovioma, benign
benign synovioma
benign tumor of Synovium
localized Giant cell tumor of Tenosynovium
nodular tenosynovitis
Diffuse Giant cell tumor of Tenosynovium
villous tenosynovitis
pigmented villonodular synovitis
A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
synovitis
Giant cell tumour of tendon sheath, malignant
malignant Giant cell neoplasm of the Tendon Sheath
malignant giant cell tumor of the tendon sheath
malignant Giant cell neoplasm
malignant tumor, giant cell type
malignant giant cell tumor
malignant tumor of Synovium
synovium cancer
Angioma of Liver
hepatic angioma
hemangioma of liver
Tight foreskin
Tight frenulum
phimosis
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Bloom-Torre-Machacek syndrome
Congenital Telangiectatic Erythema syndrome
Bloom syndrome
A vascular disease that is located_in the liver.
vascular disorder of liver
hepatic vascular disease
A dermatitis that selectively affects the hands and feet.
acrodermatitis
A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
eczema
skin inflammation
dermatitis
A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
Capillary haemangioma
Congenital vascular hamartoma
Congenital vascular naevus
Infantile hemangioma
Juvenile hemangioma
Strawberry haemangioma
Strawberry nevus
Strawberry nevus of skin
cellular hemangioma of Infancy
capillary hemangioma
A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
DKCD
Xref MGI. OMIM mapping by NeuroDevNet. [LS].
dyskeratosis congenita
A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
acantholysis bullosa
epidermolysis bullosa
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Congenital poikiloderma
RTS
Rothmund-Thomson syndrome
Atrophoderma
Atrophy - skin
atrophic condition of skin
skin atrophy
DARIER-WHITE DISEASE
Darier's disease
keratosis follicularis
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
Cheney syndrome
HJCYS
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
arthrodentoosteodysplasia
serpentine fibula-polycystic kidney syndrome
Hajdu-Cheney syndrome
A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Gronblad-Strandberg syndrome
pseudoxanthoma elasticum
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
Constitutional hyperbilirubinemia
Gilbert's disease
Gilbert's syndrome
Gilbert-Meulengracht syndrome
hereditary nonhemolytic jaundice
Gilbert syndrome
An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
hereditary hyperbilirubinemia
hyperbilirubinemia
hyperbilirubinaemia
bilirubin metabolic disorder
A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
ear and mastoid disease
auditory system disease
pyelitis
A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
narcissistic personality disorder
A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
Glycogen storage disease 5
Glycogen storage disease, type V
McArdle's disease
glycogen storage disease type V
myophosphorylase deficiency
glycogen storage disease V
A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
glycogenosis
glycogenoses
glycogen storage disease
A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
Glycogen storage disease 3
Glycogen storage disease, type III
amylo 1,6 glucosidase deficiency
deficiency of debranching enzyme
deficiency of dextrin
glycogen storage disease III
hemangioma of stomach
gastric hemangioma
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
Amylopectinosis
Branching-transferase deficiency glycogenosis
Glycogen storage disease 4
Glycogen storage disease, type IV
brancher deficiency glycogenosis
deficiency of 1,4-alpha-glucan branching enzyme
glycogen storage disease IV
A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.
Generalized glycogenosis
Glycogen storage disease 2
Glycogen storage disease, type II
Glycogenosis, type 2
Lysosomal alpha-1,4-glucosidase deficiency
Pompe disease
Pompe's disease
acid maltase deficiency
deficiency of glucoamylase
deficiency of maltase
glycogen storage disease type II
glycogen storage disease II
A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
Glycogen storage disease 6
Hers' disease
glycogen storage disease type VI
hepatic glycogen phosphorylase deficiency
hepatophosphorylase deficiency glycogenosis
glycogen storage disease VI
A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
Infection due to Mycobacterium intracellulare
MAC disease
Mycobacterium Avium Infection
Mycobacterium avium Complex
Mycobacterium avium complex disease
A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
bone carcinoma
A squamous cell carcinoma that is located_in the ethmoid sinus.
Epidermoid carcinoma of the ethmoidal sinus
ethmoid sinus squamous cell carcinoma
adenoid cystic carcinoma of the ethmoid sinus
adenoid cystic carcinoma of ethmoid sinus
ethmoid sinus adenoid cystic carcinoma
An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
adenocarcinoma of the ethmoid sinus
adenocarcinoma of ethmoid sinus
ethmoid sinus adenocarcinoma
A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
transient tic disorder
Placental hemangioma
chorioangioma
A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
irritant contact dermatitis
primary irritant dermatitis
irritant dermatitis
Contact dermatitis/eczema
Contact eczema
Dermatitis, venenata
dermatitis venenata
contact dermatitis
An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
long bone adamantinoma
A bone cancer that is located_in almost exclusively in the long bones.
adamantinoma of long bones
adamantinoma
Rectosigmoid tumor
neoplasm of rectosigmoid junction
rectosigmoid neoplasm
rectosigmoid junction neoplasm
rectosigmoid cancer
malignant Rectosigmoid tumor
malignant neoplasm of rectosigmoid
malignant neoplasm of rectosigmoid junction
malignant tumor of rectosigmoid junction
rectosigmoid junction cancer
A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
pulmonary sarcoma
lung sarcoma
A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Atresia of foramina of Magendie and Luschka
Dandy-Walker syndrome
A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
mastigophora infectious disease
sarcomastigophora infectious disease
parasitic protozoa infectious disease
A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
necatoriasis
A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
Bronchiolitis exudativa
Bronchiolitis fibrosa obliterans
Obliterative bronchiolitis
bronchiolitis obliterans
A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
endocrine system disease
A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
AIP
Hamman-Rich disease
Hamman-Rich syndrome
Idiopathic pulmonary fibrosis, acute fatal form
accelerated interstitial pneumonia
acute interstitial pneumonitis
acute interstitial pneumonia
An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur.
NSIP
nonspecific interstitial pneumonia
malignant tumor of acoustic vestibular nerve
malignant tumor of the Vestibulocochlear nerve
malignant tumour of acoustic vestibular nerve
malignant neoplasm of acoustic nerve
A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
malignant neoplasm of cranial nerve
malignant tumor of cranial nerve
malignant tumor of the Cranial nerve
cranial nerve malignant neoplasm
IIIrd Cranial nerve neoplasm, malignant
primary malignant neoplasm of oculomotor nerve
malignant oculomotor nerve tumor
Oculomotor nerve tumor
Oculomotor nerve tumour
cranial nerve III tumour
neoplasm of oculomotor nerve
cranial nerve III tumor
A cholecystitis characterized by the absence of gallstones.
acute acalculous cholecystitis
acute cholecystitis without calculus
cholecystitis without calculus
acalculous cholecystitis
dehydration polycythemia
Polycythemia, secondary
secondary polycythemia
acquired polycythemia
polycythemia due to hypoxia
Gaisbock's syndrome
Polycythemia, emotional
stress polycythemia
Nephrogenous polycythemia
Polycythaemia due to Excess Erythropoetin Production
Polycythemia due to excess erythopoetin production
Polycythemia, nephrogenous
secondary polycythemia with excess erythropoietin
erythropoietin polycythemia
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
bronchial hyperreactivity
chronic obstructive asthma
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with status asthmaticus
asthma
Jervell and Lange-Nielson syndrome
Jervell-Lange Nielsen syndrome
An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
LQT
long Q-T syndrome
Romano-Ward syndrome
long QT syndrome
A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
Bruxism - teeth grinding
Grinding teeth
Teeth grinding
sleep related bruxism
bruxism
A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
hairy cell leukemia
A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
hyperthyroxinemia
Sick-euthyroid syndrome
euthyroid sick syndrome
Hb-C disease
hemoglobin C disease
hemoglobinopathies
hemoglobinopathy
A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Glucose-6-phosphate dehydrogenase deficiency
deficiency of G-6PD
glucosephosphate dehydrogenase deficiency
An endometrial carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of endometrium
adenocarcinoma of the Endometrium
adenocarcinoma of uterus
endometrial adenoacanthoma
endometrial endometrioid adenocarcinoma
endometrial endometrioid adenocarcinoma with squamous differentiation
endometrioid adenoma or carcinoma
endometrioid adenomas and carcinomas
endometrioid carcinoma of Endometrium
endometrial adenocarcinoma
A endometrial cancer that is located_in the tissue lining the uterus.
carcinoma of the Endometrium
endometrioid carcinoma
endometrioid carcinoma of female Reproductive system
endometrial carcinoma
A laryngeal carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the Larynx
squamous cell carcinoma of larynx
laryngeal squamous cell carcinoma
A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
sarcoma of larynx
larynx sarcoma
A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
adenoma - prostate
adenoma of prostate
benign adenoma of prostate
prostate adenoma
prostatic adenoma
Phyllodes neoplasm of the prostate
benign Phyllodes neoplasm of the prostate
benign prostate phyllodes tumour
prostate phyllodes tumor
prostate phyllodes tumour
benign prostate phyllodes tumor
A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate.
Prostatic leiomyoma
prostate leiomyoma
A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
endometriosis
An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
adenoma of thyroid gland
thyroid adenoma
A cervix carcinoma that is located_in the exocervix.
carcinoma of exocervix
carcinoma of the Exocervix
exocervical carcinoma
A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of cervix
carcinoma cervix uteri
carcinoma of cervix
carcinoma of the Cervix Uteri
cervix carcinoma
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
Facio-auriculo-vertebral spectrum
First AND second branchial arch syndrome
First arch syndrome
HEMIFACIAL MICROSOMIA
OAV (oculoauriculovertebral) dysplasia
Otomandibular dysostosis
Goldenhar syndrome
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Franceschetti syndrome
mandibulofacial dysostosis
Treacher Collins syndrome
A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
acute pancreatitis
A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
Cryoimmunoglobulinaemia
cryoglobulinemia
lacrimal system neoplasm
neoplasm of lacrimal system
tumor of the lacrimal system
lacrimal system cancer
Lobular glomerulonephritis
chronic glomerulonephritis, lobular
membranoproliferative glomerulonephritis
A nephritis that causes inflammation of the glomeruli located_in kidney.
glomerulonephritis
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Haemangiectatic hypertrophy
Klippel-Trenaunay-Weber syndrome
angioosteohypertrophy syndrome
Klippel-Trenaunay syndrome
A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
Newcastle's disease
Pseudo-fowlpest
Newcastle disease
carcinoma of the lacrimal gland
lacrimal gland carcinoma
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
CHS
Chediak - Steinbrinck anomaly
Chediak-Higashi syndrome
A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).
EBV Infection
Epstein-Barr virus infection
Epstein-Barr virus infectious disease
malignant neoplasm of lacrimal gland
malignant tumour of lacrimal gland
neoplasm of lacrimal gland
tumor of the lacrimal gland
lacrimal gland cancer
A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
bronchiolitis
A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
SARS
SARS-CoV infection
severe acute respiratory syndrome
An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye.
Ocular carcinoma
carcinoma of eye
eye carcinoma
Travel Sickness
motion sickness
An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
labyrinthine disease
inner ear disease
A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.
pulmonary tuberculosis
A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
hyperimmunoglobulin syndrome
carcinoma Ex Pleomorphic adenoma of the lacrimal gland
carcinoma ex pleomorphic adenoma of lacrimal gland
malignant mixed neoplasm of lacrimal gland
mixed lacrimal gland cancer
A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
IBIDS syndrome
TTD-P
Tay syndrome
sulfur-deficient brittle hair syndrome
trichothiodystrophy with congenital ichthyosis
photosensitive trichothiodystrophy
A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Neill-Dingwall syndrome
Cockayne's syndrome
Cockayne syndrome
A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints.
bursitis
carcinoma ex pleomorphic adenoma
carcinoma in pleomorphic adenoma
pleomorphic adenoma carcinoma
A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
primary hyperoxaluria
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
disorder of carbohydrate transport and metabolism
inborn carbohydrate metabolism disorder
inborn errors of carbohydrate metabolism
carbohydrate metabolic disorder
A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of lacrimal gland
lacrimal gland adenocarcinoma
Suppression of urinary secretion
anuria
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
Berger's IgA or IgG nephropathy
Focal Glomerulonephritis
IgA nephropathy
primary IgA nephropathy
segmental glomerulonephritis
IgA glomerulonephritis
An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
FMF
benign paroxysmal peritonitis
familial Mediterranean fever
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
APS
antiphospholipid antibody syndrome
antiphospholipid syndrome
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
adenocarcinoma
neuroendocrine tumor of the prostate
prostate neuroendocrine neoplasm
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
malignant tumor of the germ cell
germ cell neoplasm
germ cell tumour
germ cell cancer
mixed germ cell-Sex Cord tumor
mixed germ cell-sex cord-stromal tumor
mixed germ cell-sex cord neoplasm
A male reproductive system cancer that is located_in the testicles.
childhood neoplasm of the testis
neoplasm of testis
pediatric testicular neoplasm
testicular tumor
testis cancer
testis neoplasm
testicular cancer
A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
Granulosa cell neoplasm
Granulosa cell tumor, adult type
Granulosa cell tumour, sarcomatoid
malignant granulosa cell neoplasm
granulosa cell tumor
A female reproductive organ cancer that is characterized by a resemblance to endometrium.
endometrioid neoplasm
endometrioid tumor
female reproductive endometrioid neoplasm
female reproductive endometrioid cancer
An ovarian cancer that has_material_basis_in nuroendocrine cells.
neuroendocrine tumor of Ovary
ovary neuroendocrine neoplasm
A breast benign neoplasm that is located_in the nipple.
tumor of Nipple
nipple benign neoplasm
A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
breast myoepithelial neoplasm
A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.
Infiltrating ductal carcinoma of breast
Invasive ductal carcinoma, NST
ductal adenocarcinoma
invasive ductal carcinoma
A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.
neuroendocrine tumor of the breast
breast neuroendocrine neoplasm
A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
Lobular Intraepithelial Neoplasia
lobular carcinoma in situ
lobular neoplasia
A breast cancer that is believed to arises_from Schwann cells.
breast granular cell tumor
A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
LFS
Li-Fraumeni Familiar cancer Susceptibility syndrome
SBLA syndrome
sarcoma, breast, leukaemia and adrenal gland syndrome
Li-Fraumeni syndrome
A breast benign neoplasm that is located_in the breast ducts.
intraductal breast benign neoplasm
A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
Phyllodes breast neoplasm
Phyllodes tumor, malignant
breast malignant phyllodes tumour
malignant Mammary Phyllodes tumor
malignant Mammary Phyllodes tumour
malignant Phyllodes neoplasm
malignant cystosarcoma phyllodes
malignant phyllodes tumor
malignant phyllodes tumor of breast
malignant phyllodes tumour
malignant phyllodes tumour of breast
phyllodes breast tumor
phyllodes breast tumour
breast malignant phyllodes tumor
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
sarcoma of breast
breast sarcoma
A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
substance abuse
prostatic acinar adenocarcinoma
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
acinic cell carcinoma
acinar cell carcinoma
Colonic mucinous adenocarcinoma
colon mucinous adenocarcinoma
A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
substance-related disorder
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
Mucin-Secreting adenocarcinoma
Mucin-Secreting carcinoma
Mucous carcinoma
Pseudomyxoma peritonei with unknown primary site
mucin-producing adenocarcinoma
mucinous adenocarcinoma
submucosal invasive colon adenocarcinoma
A cecum carcinoma that derives_from epithelial cells of glandular origin.
Cecal adenocarcinoma
cecum adenocarcinoma
A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
allergic contact dermatitis
A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
food hypersensitivity
food allergy
A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
Allergic Granulomatous Angiitis
Allergic granulomatosis angiitis
Churg-Strauss vasculitis
Churg-Strauss syndrome
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
epithelial cancer
epithelioma
malignant Epithelioma
carcinoma
A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
Paratyphoid
Paratyphoid A fever
Paratyphoid B fever
Paratyphoid C fever
Paratyphoid fever A
Paratyphoid fever B
Paratyphoid fever C
paratyphoid a
paratyphoid b
paratyphoid c
paratyphoid fever
A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
GBM
adult glioblastoma multiforme
glioblastoma multiforme
grade IV adult Astrocytic tumor
primary glioblastoma multiforme
spongioblastoma multiforme
glioblastoma
A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
Astrocytic tumor
astrocytoma of Cerebrum
astrocytoma of brain
astroglioma
cerebral astrocytoma
malignant astrocytoma
A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
Neuroglial tumor
glial cell tumor
glioma, malignant
malignant Neuroglial tumor
malignant glioma
high grade glioma
A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
Glioblastoma with sarcomatous component
gliosarcoma
A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.
Glioblastoma multiforme of brain
brain Glioblastoma
brain glioblastoma multiforme
A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.
Monstrocellular sarcoma
giant cell glioblastoma
A malignant astrocytoma that occurs during adulthood.
adult astrocytic tumour
adult astrocytoma
adult astrocytic tumor
A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.
grade III Astrocytic tumor
grade III astrocytoma
anaplastic astrocytoma
juvenile astrocytoma
pediatric astrocytoma
childhood astrocytic tumor
cystic Hygroma
cystic lymphangioma
A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
ILD
interstitial lung disease
An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
COLD
COPD
chronic obstructive airway disease
chronic obstructive lung disease
chronic obstructive pulmonary disease
acute gingivitis
chronic gingivitis
gingivitis
Non-Specific Granulomatous Orchitis
granulomatous orchitis
An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
malignant neoplasm of nervous system
neoplasm of nervous system
nervous system neoplasm
neural neoplasm
neural tumor
tumor of the nervous system
nervous system cancer
A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
small cell sarcoma
Fukuhara syndrome
Myoclonic epilepsy - ragged red fibers
Myoclonus epilepsy AND ragged red fibers
Myoclonus with epilepsy and with Ragged Red Fibers
MERRF syndrome
A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
TOS - Thoracic outlet syndrome
thoracic outlet syndrome
A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
idiopathic CD4-positive T-lymphocytopenia
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
papillary cystadenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
cystadenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
Infiltrating and papillary adenocarcinoma
infiltrating papillary adenocarcinoma
papillary adenocarcinoma
A carcinoma that is derives_from epithelial cells with finger like projections.
papillary carcinoma
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
serous adenocarcinoma
serous carcinoma
serous cystadenocarcinoma
renal and ureteral tumor
kidney benign neoplasm
A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
hepatobiliary tumors
hepatobiliary benign neoplasm
A gastrointestinal system disease that is located_in the liver and/or biliary tract.
liver and biliary tract disease
hepatobiliary disease
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
GI tumor
digestive system cancer
gastrointestinal tract cancer
gastrointestinal system cancer
A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.
gallbladder papillomatosis
A biliary tract cancer that is located_in the gallbladder.
gallbladder Ca
gallbladder neoplasm
localized malignant gallbladder neoplasm
malignant neoplasm of gallbladder
malignant tumor of the gallbladder
malignant tumour of gallbladder
tumor of the gallbladder
gallbladder cancer
A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
ulcerative proctitis
proctitis
A rectal disease located_in the anus.
Nontraumatic tear of anus
Solitary anal ulcer
Ulcer of anus
anal disease
anal fissure
anal fissure and fistula
anal ulcer
fissure in ano
anus disease
An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
porphyria cutanea tarda
A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.
keratosis nigricans
acanthosis nigricans
Giant cell tumor of Tenosynovium
Giant cell tumor of tendon sheath
Giant cell tumour of Tenosynovium
Giant cell tumour of tendon sheath
fibrous histiocytoma of tendon sheath
tenosynovial giant cell tumour
tenosynovial giant cell tumor
A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
Buschke's scleredema
scleredema adultorum
A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
loose skin
cutis laxa
A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
Remnant hyperlipidemia
carbohydrate induced hyperlipemia
familial hypercholesterolaemia with hyperlipaemia
familial type 3 hyperlipoproteinemia
hyperlipoproteinemia type III
keratoacanthoma
Synovial neoplasm
tumor of Synovium
synovium neoplasm
A skin carcinoma that has_material_basis_in squamous cells.
Epidermoid skin carcinoma
squamous cell carcinoma of skin
skin squamous cell carcinoma
A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
Bloch-Siemans syndrome
Incontinentia pigmenti achromians syndrome
Ito's nevus
incontinentia pigmenti achromians
nevus of Ito
hypomelanosis of Ito
A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
Spitzoid malignant melanoma
spindle cell malignant melanoma
spindle cell melanoma
desmoplastic melanoma
malignant spindle cell melanoma
neoplasm of skin
neoplasm of skin by site
skin neoplasm
tumor of the skin
skin benign neoplasm
A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
Epidermoid cell tumor
squamous cell tumor
squamous cell neoplasm
glandular papilloma
papillary adenoma
A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.
fallopian tube serous papilloma
verrucous papilloma
A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
cutaneous papilloma
papilloma of skin
skin papilloma
Inverted papilloma, squamous cell
inverted papilloma
Pure progressive muscular atrophy
progressive spinal muscular atrophy
progressive muscular atrophy
oligodendroglial neoplasm
oligodendroglial tumor
oligodendroglioma
pediatric Oligodendroglioma
childhood oligodendroglioma
Oligodendroglioma of spinal cord
Well differentiated Spinal Cord Oligodendroglioma
spinal cord oligodendroglioma
A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
Glial neoplasm Spinal Cord
Glial tumor of spinal cord
glioma of spinal cord
spinal cord glioma
adult brain oligodendroglioma
grade II adult Oligodendroglial tumor
adult oligodendroglioma
A brain glioma that has_material_basis_in oligodendrocytes.
Oligodendroglioma of brain
brain oligodendroglioma
myelopathy
spinal cord disease
A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
Psammomatous schwannoma
schwannoma
neurilemmoma
A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
cellular Neurinoma
cellular schwannoma
A neurilemmoma that is located_in the 12th cranial nerve.
Hypoglossal Schwannoma
schwannoma of twelfth cranial nerve
neoplasm of hypoglossal nerve
tumor of Hypoglossal nerve
hypoglossal nerve neoplasm
Cerebellopontine Angle Neurinoma
C-P angle neurinoma
A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle.
cerebellopontine angle tumour
neoplasm of the Cerebellopontine Angle
cerebellopontine angle tumor
sympathetic neurilemmoma
Trigeminal Neurilemmoma
Trigeminal schwannoma
neurilemmoma of the fifth cranial nerve
macrocystic neurilemmoma
A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.
SWN
neurilemmomatosis
neurinomatosis
schwannomatosis
Melanotic Schwannoma
Pigmented Neurilemmoma
Pigmented schwannoma
melanotic neurilemmoma
Plexiform Neurinoma
Plexiform neurilemmoma
plexiform schwannoma
An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
congenital junctional epidermolysis bullosa
junctional epidermolysis bullosa
A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
HAM/TSP
HTLV-associated myelopathy
Tropical spastic paralysis
Tropical spastic paraplegia
tropical spastic paraparesis
HTLV-1-associated myelopathy/tropical spastic paraparesis
A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
HLD1
Leukodystrophy, sudanophilic
PMD
Pelizaeus Merzbacher brain sclerosis
Pelizaeus-Merzbacher brain sclerosis
diffuse familial brain sclerosis
hypomyelinating leukodystrophy 1
sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Pelizaeus-Merzbacher disease
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
disorder of lysosomal enzyme
inborn lysosomal enzyme disorder
lysosomal storage metabolism disorder
lysosomal storage disease
A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.
demyelinating disorder
demyelinating disease
Somatosatinoma of Jejunum
jejunal delta cell somatostatin producing tumor
jejunal somatostatinoma
Jejunal tumor
neoplasm of jejunum
tumor of jejunum
jejunal neoplasm
A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
myelitis
Complex regional pain syndrome, type II
causalgia
tracheal disease
Stenosis of trachea
tracheal stenosis
A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
Microglioma
primary CNS lymphoma
central nervous system lymphoma
A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
embryonal rhabdomyosarcoma
A skeletal muscle cancer that arise from skeletal muscle progenitors.
rhabdomyosarcoma
Pleomorphic rhabdomyosarcoma, adult type
anaplastic Rhabdomyosarcoma
pleomorphic rhabdomyosarcoma
A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone.
Embryonal Rhabdomyosarcoma of the prostate
prostate embryonal rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
Rhabdomyosarcoma of the prostate
prostate rhabdomyosarcoma
embryonal extrahepatic bile duct rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
rhabdomyosarcoma of the bile duct
bile duct rhabdomyosarcoma
Botryoid sarcoma
Botryoid-type Embryonal Rhabdomyosarcoma
sarcoma botryoides
botryoid rhabdomyosarcoma
An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.
Embryonal Rhabdomyosarcoma of the orbit
orbit embryonal rhabdomyosarcoma
An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.
Rhabdomyosarcoma of orbit
Rhabdomyosarcoma of the orbit
orbit rhabdomyosarcoma
A vascular disease that is characterized by a restriction in blood supply to tissues.
ischemia
A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
Sclerosing rhabdomyosarcoma
Spindle Cell/Sclerosing Rhabdomyosarcoma
Synonym Rhabdomyosarcoma, spindle cell/sclerosing type
spindle cell rhabdomyosarcoma
A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Job syndrome
Job's syndrome
STAT3 Hyper IgE syndrome
hyper IgE recurrent infection syndrome 1
hyperimmunoglobulin E syndrome
nomenclature update Oct 2024 [LS]. nomenclature update Nov 2025 [claudiasbj].
autosomal dominant hyper-IgE syndrome 1 with recurrent infections
An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.
PIEBALD TRAIT
Partial albinism
This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
piebaldism
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
Bridges-Good syndrome
CGD
Congenital dysphagocytosis
Quie syndrome
chronic granulomatous disease
An ovarian cystadenoma that is characterized by the presence of mucin.
Ovarian mucinous Cystadenoma
mucinous cystadenoma of ovary
mucinous ovarian cystadenoma
An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
Cystoma Serosum simplex
simple cystoma of ovary
simple cystoma of the ovary
ovarian cystadenoma
syringomyelia
A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
Fibrocystic change, proliferative type with atypia
Fibrocystic disease, Proliferative type with Atypia
Proliferating Lesion of breast without Atypia
Proliferating Lesion of the breast without Atypia
Proliferative Fibrocystic Change
proliferative type fibrocystic change of breast
A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
thymoma
An immune system cancer located_in the thymus.
Thymic tumor
neoplasm of thymus
thymic neoplasm
thymus cancer
encapsulated thymoma
Medullary Thymoma
Thymoma, medullary
spindle cell thymoma
Thymoma, mixed type
mixed type thymoma
A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
dendritic cell thymoma
epithelioid Thymoma
thymoma type B
Infiltrating Thymoma
Thymoma malignant Invasive
invasive malignant thymoma
A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
Thymoma, malignant
malignant Thymoma
thymic carcinoma
A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
monkeypox
November 2022 WHO name update.
mpox
A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
gonadoblastoma
A notochordal cancer that derives_from cellular remnants of the notochord.
notochordoma
chordoma
An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
notochordal tumor
notochordal cancer
A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
mixed Embryonal carcinoma and teratoma
teratocarcinoma
A germ cell cancer that occurs in many forms.
mixed germ cell neoplasm
mixed germ cell tumor
mixed germ cell tumour
mixed teratoma and seminoma
mixed germ cell cancer
A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
teratoma
An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
primary extragonadal embryonal carcinoma
embryonal carcinoma
A dermatitis that is characterized by chronic itching or scaling.
neurodermatitis
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
central nervous system disease
A mood disorder that involves alternating periods of mania and depression.
Manic Bipolar Affective disorder
Manic Depressive disorder
Manic bipolar I disorder
bipolar depression
bipolar disorder manic phase
manic depression
manic disorder
mixed bipolar disorder
Depressive-manic psych.
bipolar disorder
A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
angiomyolipoma
A cell type benign neoplasm that is composed of lipocytes.
Lipomatous neoplasm
Lipomatous tumor
benign lipomatous tumor
benign tumor of Adipose tissue
tumor of adipose tissue
multiple lipomatosis
lipoma
malignant perivascular cancer
perivascular tumor
hepatic angiomyolipoma
Epithelioid angiomyolipoma
epithelioid type angiomyolipoma
A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
lung lymphangioleiomyomatosis
lymphangiomyomatosis
pulmonary lymphangioleiomyomatosis
lymphangioleiomyomatosis
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
ALS
Lou Gehrig's disease
motor neuron disease, bulbar
amyotrophic lateral sclerosis
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
GM2 gangliosidosis, type 1
hexosaminidase A deficiency
Tay-Sachs disease
A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
Beta-galactosidase deficiency
deficiency of beta-galactosidase
gangliosidosis GM1
GM1 gangliosidosis
A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Sandhoff Jatzkewitz disease
Sandhoff disease
A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
episodic mood disorder
Updating outdated UMLS CUI.
mood disorder
Purpuric disorder
purpura
Focal motor seizure
epilepsy, focal motor
partial motor epilepsy
A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
epilepsy, temporal lobe
temporal lobe epilepsy
A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
histrionic personality disorder
A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
Osteitis fibrosa cystica generalisata
Von Recklinghausen's bone disease
hyperparathyroid bone disease
osteitis fibrosa
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Mucolipidosis type I
sialidosis
glycoproteinosis
A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
Osteogenic sarcoma
Skeletal sarcoma
bone tissue neoplasm
osteoid sarcoma
osteosarcoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
benign miscellaneous mesenchymal tumor
mesenchymal tumor
mesenchymal cell neoplasm
osseous hemangiosarcoma
bone angioendothelial sarcoma
malignant fibrous Histiocytoma of the bone
malignant fibrous histiocytoma of bone
A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Fibrocytic tumor
fibrosarcoma of soft tissue
fibrous tissue neoplasm
fibrosarcoma
An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
localised Osteogenic sarcoma
localised osteosarcoma
localized Osteogenic sarcoma
localized osteosarcoma
An osteosarcoma arising from the soft tissue.
extraskeletal Osteogenic sarcoma
extraskeletal osteosarcoma
extraosseous osteosarcoma
multifocal osteogenic sarcoma
pediatric osteosarcoma
childhood osteosarcoma
Aneurysm of coronary vessels
Aneurysmal lesion of coronary artery
Arteriovenous aneurysm of coronary vessels
coronary aneurysm
bone leiomyosarcoma
A peripheral primitive neuroectodermal tumor that is located_in bone.
Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
bone Ewing sarcoma
bone localized Ewing sarcoma
bone localized Ewing's sarcoma
localized Skeletal Ewing's sarcoma
Ewing's sarcoma of bone
bone Ewing's sarcoma
Ewing sarcoma of bone
A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
Ewing's family localized tumor
Ewing's sarcoma/peripheral primitive neuroectodermal tumor
Ewing's tumor
Ewings sarcoma
Ewings sarcoma-primitive neuroectodermal tumor
PNET of Thoracopulmonary Region
localized Ewing sarcoma
localized Ewing's sarcoma
localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
localized Ewing's tumor
localized peripheral primitive neuroectodermal tumor
peripheral primitive neuroectodermal tumor
Ewing sarcoma
XIth Cranial nerve tumors
neoplasm of accessory nerve
spinal accessory nerve neoplasm
A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
Cartilaginous cancer
chondrosarcoma of bone
primary chondrosarcoma of the bone
chondrosarcoma
chondrosarcomatous Osteogenic sarcoma
chondroblastic osteosarcoma
Parosteal Osteogenic sarcoma
juxtacortical osteosarcoma
parosteal osteosarcoma
Surface Osteosarcoma
peripheral osteosarcoma
An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
Osteosarcoma of bone
primary Osteosarcoma of bone
bone osteosarcoma
Round cell osteosarcoma
small cell Osteosarcoma
small cell osteogenic sarcoma
metachronous osteosarcoma of the bone
Liposarcoma of the bone
liposarcoma of bone
A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
lipomatous cancer
liposarcoma
A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
bacterial vaginosis
A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
disease of supporting structures of teeth
periodontium disorder
periodontal disease
An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Papillon Lefevre syndrome
Papillon-Lefvre syndrome
Papillon-Lefevre disease
A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
Eleventh nerve disorder
disorder of 11th nerve
disorder of accessory [11th] nerve
disorder of accessory nerve
accessory nerve disease
An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
CHD
Coronary disease
Ischemic Heart Disease
coronary arteriosclerosis
coronary heart disease
coronary artery disease
A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).
SIADH
syndrome of Inappropriate Antidiuretic Hormone Secretion
syndrome of inappropriate secretion of ADH
syndrome of inappropriate secretion of antidiuretic hormone
syndrome of inappropriate vasopressin secretion
inappropriate ADH syndrome
A lymphatic system disease that is characterized by an excessive number of histiocytes.
Hand Schuller Christian disease
chronic Histiocytosis X
histiocytosis
disorder of carotid artery
carotid artery disease
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
Alpha-D-mannosidosis
alpha-mannosidase deficiency
deficiency of alpha-mannosidase
alpha-mannosidosis
neoplasm of glossopharyngeal nerve
tumor of Glossopharyngeal nerve
glossopharyngeal nerve neoplasm
Tumour of optic nerve
neoplasm of optic nerve
tumor of Second Cranial nerve
optic nerve neoplasm
neoplasm of trochlear nerve
tumor of Trochlear nerve
trochlear nerve neoplasm
Adding UMLS CUI for synonym.
granulomatous myositis
A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
inclusion body myositis
A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.
cerebritis
A acute laryngitis which is caused by viral infection.
viral laryngitis
A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
laryngitis
A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
Paget cell neoplasm
Paget's disease
Paget's disease of the breast
mammary Paget disease
mammary Paget's disease
Paget's disease of scrotum
scrotum Paget disease
scrotum Paget's disease
carcinoma of scrotum
scrotal carcinoma
Paget's disease of anus
anal Paget disease
Paget's disease of the anus
anal Paget's disease
An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
adenocarcinoma of anus
adenocarcinoma of the anus
anus adenocarcinoma
Paget's disease of penis
penis Paget disease
penis Paget's disease
A penile cancer that is located_in the skin or tissues of the penis.
Penile carcinoma
carcinoma of penis
penis carcinoma
A female reproductive system disease that is located_in the uterus.
uterine disease
A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
Paget's disease of skin
cutaneous Paget disease
extramammary Paget's disease
cutaneous Paget's disease
A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
carcinoma of skin
skin carcinoma
A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
Lobular carcinoma
Lobular carcinoma of breast
Lobular carcinoma of the breast
invasive lobular carcinoma
A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
Mammary adenocarcinoma
adenocarcinoma of breast
breast adenocarcinoma
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Mammary carcinoma
carcinoma of breast
breast carcinoma
A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.
hamartomatous polyp
hamartoma
A disease of anatomical entity that is located_in the breast.
breast disease
malignant neoplasm of the Iris
malignant tumor of iris
tumor of the Iris
iris cancer
An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
Malignant neoplasm of uveal tract
Uveal tumor
malignant Uveal tumor
uveal cancer
An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
uveal disease
A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
plague
necrobiosis lipoidica
A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
cellulitis
SMCD - systemic mast cell disease
systemic tissue mast cell disease
systemic mastocytosis
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Turner's phenotype, karyotype normal
Noonan syndrome
A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
Bonnevie-Ullrich syndrome
Gonadal dysgenesis - Turner
Karyotype 45, X
Monosomy X
XO syndrome
monosomy X syndrome
Turner syndrome
A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Connective tissue disease overlap syndrome
mixed collagen vascular disease
mixed connective tissue disease
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
Signet ring carcinoma
Signet ring cell carcinoma
signet ring cell adenocarcinoma
bile duct signet ring cell carcinoma
An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of extrahepatic bile duct
adenocarcinoma of the extrahepatic bile duct
extrahepatic bile duct adenocarcinoma
Signet Ring cell carcinoma of pancreas
pancreatic signet ring cell carcinoma
pancreatic signet ring cell adenocarcinoma
A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
ductal adenocarcinoma of the pancreas
pancreatic ductal adenocarcinoma
Signet Ring cell carcinoma of the gallbladder
gallbladder signet ring cell adenocarcinoma
mast cell hyperplasia
mastocytosis
A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the gallbladder
gallbladder adenocarcinoma
ampullary signet ring cell carcinoma
ampullary signet ring cell adenocarcinoma
An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
ampullary adenocarcinoma
adenocarcinoma of ampulla of vater
ampulla of Vater adenocarcinoma
A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.
Mammary Signet Ring cell carcinoma
signet ring cell carcinoma of breast
breast signet ring cell adenocarcinoma
Signet Ring cell carcinoma of prostate
prostate signet ring cell carcinoma
prostate signet ring cell adenocarcinoma
adult fibrosarcoma
conventional fibrosarcoma
pediatric fibrosarcoma
childhood fibrosarcoma
A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
Posterior inferior cerebellar artery syndrome
Wallenberg syndrome
lateral medullary syndrome
A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
Cerebral infarct
cerebral infarction
A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.
autosomal dominant congenital myopathy 1A
central core disease
central core myopathy
congenital myopathy 1A
A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
Lafora Progressive Myoclonic Epilepsy
Lafora's disease
MYOCLONIC EPILEPSY OF LAFORA
progressive myoclonic epilepsy 2
Lafora disease
A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
Unverricht - Lundborg disease
Unverricht's disease
Unverricht-Lundborg disease
Unverricht-Lundborg syndrome
A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
tumor of choroid plexus
tumor of the Choroid Plexus
choroid plexus neoplasm
choroid plexus cancer
A cerebrum cancer that is located_in the cerebral ventricles.
Intraventricular tumor of brain
cerebral ventricle neoplasm
cerebral ventricle cancer
neoplasm of the adult Choroid Plexus
adult choroid plexus tumor
adult choroid plexus cancer
atypical choroid plexus papilloma
childhood choroid plexus neoplasm
childhood choroid plexus cancer
A sarcoma that has_material_basis_in mast cells.
mast-cell sarcoma
A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
Wilkie's syndrome
superior mesenteric artery syndrome
duodenal obstruction
An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
mucinous Ascites
pseudomyxoma peritonei
A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
meningeal neoplasm
meningothelial cell tumor
neoplasm of the meninges
primary Meningeal tumor
meningioma
A hepatobiliary system cancer that is located_in the liver.
Ca liver - primary
Resectable malignant neoplasm of Liver
hepatic cancer
hepatic neoplasm
malignant hepato-biliary neoplasm
malignant neoplasm of liver
malignant neoplasm of liver, not specified as primary or secondary
malignant neoplasm of liver, primary
malignant tumor of liver
neoplasm of liver
non-resectable primary hepatic malignant neoplasm
primary liver cancer
primary malignant neoplasm of liver
resectable malignant neoplasm of the liver
liver cancer
A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
tubular androblastoma
Sertoli cell tumor
An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements.
ovarian gonadoblastoma
testicular gonadoblastoma
gestational trophoblastic neoplasia
hydatidiform mole
molar pregnancy
gestational trophoblastic neoplasm
epithelioid trophoblastic tumor
A placenta cancer that has_material_basis_in trophoblastic cells.
Chorioepithelioma
choriocarcinoma
A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
Placental-Site Gestational Trophoblastic neoplasm
placental site trophoblastic tumour
placental site trophoblastic tumor
A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
neurotoxicity
neurotoxicity syndrome
toxic encephalopathy
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
Pseudomucinous cystadenocarcinoma
mucinous cystadenocarcinoma
An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
mucinous cystadenocarcinoma of ovary
ovarian mucinous cystadenocarcinoma
An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
cystadenocarcinoma of ovary
cystadenocarcinoma of the Ovary
ovarian cystadenocarcinoma
An ovary adenocarcinoma that is characterized by the presence of mucin.
mucinous carcinoma of Ovary
ovarian mucinous adenocarcinoma
Colloidal cystadenocarcinoma of the appendix
appendix mucinous cystadenocarcinoma
An appendix carcinoma that derives_from epithelial cells of glandular origin.
Appendiceal adenocarcinoma
appendix adenocarcinoma
A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.
breast mucinous cystadenocarcinoma
A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
Endometriosis of cervix
cervical Endometriosis
cervix endometriosis
A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.
Invasive mucinous breast carcinoma
mucinous carcinoma of breast
breast mucinous carcinoma
retinitis
A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
ACY2 DEFICIENCY
AMINOACYLASE 2 DEFICIENCY
ASP DEFICIENCY
ASPA DEFICIENCY
ASPARTOACYLASE DEFICIENCY
CANAVAN-VAN BOGAERT-BERTRAND DISEASE
Spongy degeneration of central nervous system
Canavan disease
A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
Hypogonadism with anosmia
Kallman syndrome
Kallman's syndrome
familial hypogonadism with anosmia
Kallmann syndrome
An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
Angiolipoma, infiltrating
infiltrating angiolipoma
A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
angiolipoma
Angiolipoma of Extradural Spinal canal
epidural spinal canal angiolipoma
Extradural tumor
epidural spinal canal neoplasm
A nervous system cancer that is located_in the central nervous system.
CNS neoplasm
central nervous system tumor
central nervous system tumors
malignant neoplasm of central nervous system
malignant tumor of CNS
neoplasm of central nervous system
central nervous system cancer
An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
ruptured aortic aneurysm
aortic aneurysm
A female reproductive organ cancer that is located_in the uterus.
CA - cancer of uterus
Tumour of uterus
malignant neoplasm of uterus
malignant uterine tumor
neoplasm of uterus
uterine tumor
uterus neoplasm
uterine cancer
A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Beta-D-mannosidosis
beta-mannosidase deficiency
lysosomal beta-mannosidase deficiency
beta-mannosidosis
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
congenital myasthenic syndrome
childhood Spinal Cord neoplasm
childhood spinal cord tumor
Intramedullary Spinal teratoma
spinal cord intramedullary teratoma
A teratoma that is located_in the central nervous system.
CNS teratoma
central nervous system teratoma
tumor of Conus Medullaris
conus medullaris neoplasm
empty sella syndrome
tumor of Sella Turcica
sella turcica neoplasm
neoplasm of the Hypothalamus
tumor of hypothalamus
hypothalamic neoplasm
Pituitary necrosis
necrosis of pituitary
A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
deficiency of pyruvic dehydrogenase
pyruvate dehydrogenase complex deficiency disease
pyruvate dehydrogenase deficiency
pyruvate decarboxylase deficiency
A urinary system disease that is located_in the bladder.
Urinary Bladder Disease
bladder disease
A metabolic acidosis characterized by buildup of lactate.
lactic acidosis
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
deficiency of pyruvic carboxylase
pyruvate carboxylase deficiency disease
A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Infantile necrotizing encephalomyelopathy
Leigh syndrome
juvenile subacute necrotizing encephalomyelopathy
subacute necrotizing encephalomyelopathy
Leigh disease
A lysosomal storage disease characterized by increased sialic acid in the urine.
OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
sialuria
cutaneous mastocytosis
A hematologic cancer that has_material_basis_in mast cells.
Mast cell Proliferative disease
mast cell tumor
mastocytoma
mast cell neoplasm
diffuse cutaneous mastocytosis
A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
Solitary Mastocytoma of skin
Solitary mastocytoma
cutaneous solitary mastocytoma
solitary mastocytoma of the skin
A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell.
disorder of 1st nerve
disorder of olfactory [1st] nerve
disorder of olfactory nerve
olfactory nerve disease
A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
Rhabdoid sarcoma
malignant rhabdoid tumour
rhabdoid tumor
rhabdoid cancer
A embryonal cancer that is located in the kidney.
renal Rhabdoid tumor
rhabdoid tumor of the kidney
kidney rhabdoid tumor
kidney rhabdoid cancer
pediatric renal tumor
childhood kidney cancer
A supratentorial cancer that is located_in the cerebrum.
cerebral cancer
neoplasm of cerebrum
tumor of Cerebrum
cerebrum cancer
tumor of the lung
lung benign neoplasm
A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
MELAS syndrome
plexopathy
A brachial plexus neuropathy that affects the chest, shoulder, arm and hand.
Brachial neuritis
Parsonage-Aldren-Turner syndrome
brachial plexus neuritis
Asthesioneuroblastoma
Esthesioneuroblastoma
Esthesioneuroepithelioma
Olfactory Esthesioneuroblastoma
paranasal sinus Olfactory neuroblastoma
olfactory neuroblastoma
A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.
Brachial plexus disorder
brachial plexopathy
brachial plexus neuropathy
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
mucinous adenocarcinoma of anus
anal colloid adenocarcinoma
An anal canal cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the anal canal
adenocarcinoma of anal canal
anal canal adenocarcinoma
ampulla of Vater mucinous adenocarcinoma
mucinous carcinoma of the bile duct
bile duct mucinous adenocarcinoma
A uterine ligament adenocarcinoma that produces mucin.
uterine ligament mucinous adenocarcinoma
An integumentary system disease that is located_in skin.
Genodermatosis
skin and subcutaneous tissue disease
skin disease
malignant olfactory nerve tumor
malignant tumor of Olfactory nerve
primary malignant neoplasm of olfactory nerve
malignant olfactory nerve neoplasm
A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
uterine ligament adenocarcinoma
A cervical adenocarcinoma that derives_from mucin producing epithelial cells.
cervical mucinous adenocarcinoma
A cervix carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma cervix uteri
adenocarcinoma of cervix
adenocarcinoma of the uterine Cervix
cervical adenocarcinoma
A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
acinar Colloid prostate adenocarcinoma
prostate colloid adenocarcinoma
A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
fallopian tube mucinous adenocarcinoma
A fallopian tube benign neoplasm that produces mucin.
fallopian tube mucinous tumor
A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the fallopian tube
fallopian tube adenocarcinoma
An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
uterine Corpus mucinous adenocarcinoma
endometrial mucinous adenocarcinoma
A rectal adenocarcinoma that produces mucin.
Colloidal adenocarcinoma of rectum
rectum mucinous adenocarcinoma
extracranial neuroblastoma
bladder colloid adenocarcinoma
A bladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of bladder
adenocarcinoma of the urinary bladder
bladder adenocarcinoma, Not Otherwise Specified
bladder adenocarcinoma
An ovarian carcinoma that derives_from epithelial cells of glandular origin.
Ovarian adenocarcinoma
ovarian adenoacanthoma
adenocarcinoma of the ovary
ovary adenocarcinoma
mucinous adenocarcinoma of the stomach
mucinous stomach adenocarcinoma
A stomach carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of stomach
stomach adenocarcinoma
gastric adenocarcinoma
extraosseous plasmacytoma
plasmacytoma, extramedullary
extramedullary plasmacytoma
Myeloma - solitary
Myeloma, solitary
Solitary myeloma
Solitary plasmacytoma
plasmacytoma
Isolated osseous plasmacytoma
Solitary plasmacytoma of bone
solitary osseous plasmacytoma
Solitary plasmacytoma of the Chest Wall
solitary plasmacytoma of chest wall
A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
Warty carcinoma
verrucous squamous carcinoma
verrucous squamous cell carcinoma
verrucous carcinoma
An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
Nutritional disorder
nutrition disease
A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions.
verrucous carcinoma of Vulva
vulva verrucous carcinoma
bladder verrucous squamous cell carcinoma
A carcinoma of bladder that is manifested in squamous cells of the bladder.
Epidermoid carcinoma of the urinary bladder
squamous cell carcinoma of bladder
bladder squamous cell carcinoma
A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth.
cervical verrucous carcinoma
A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
squamous cell carcinoma of cervix
squamous cell carcinoma of the Cervix Uteri
cervical squamous cell carcinoma
oesophagus verrucous carcinoma
verrucous carcinoma of esophagus
verrucous carcinoma of oesophagus
verrucous carcinoma of the esophagus
esophagus verrucous carcinoma
An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
SCC of esophagus
SCC of oesophagus
oesophagus squamous cell carcinoma
esophagus squamous cell carcinoma
A urethra squamous cell carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
urethral verrucous carcinoma
A cancer of urethra that shows squamous cell differentiation.
urethral Epidermoid carcinoma
urethra squamous cell carcinoma
plantar verrucous skin carcinoma
verrucous carcinoma of the Larynx
larynx verrucous carcinoma
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Hermansky-Pudlak syndrome
A thrombophilia that is characterized by the tendency to form clots in the veins.
AT III deficiency
hereditary thrombophilia due to congenital antithrombin deficiency
antithrombin III deficiency
A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
protein C deficiency
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
MITOCHONDRIAL COMPLEX IV DEFICIENCY
cytochrome-c oxidase deficiency disease
hermaphroditism
A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
Denys-Drash syndrome
Indeterminate sex and pseudohermaphroditism
pseudohermaphroditism
A vaginal discharge that is characterized by a whitish or yellow color.
Leukorrhea of vagina
discharge - leukorrhea
leukorrhea
An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.
Fibrosis of lung
pulmonary fibrosis
intraventricular meningioma
A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
Chordoid glioma of 3rd Ventricle
Chordoid glioma of third ventricle
third ventricle chordoid glioma
chordoid glioma
Granulome annulare
granuloma annulare
An ovarian disease that is characterized by the absence of ovulation.
anovulation
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
Coffin-Lowry syndrome
An auditory system disease that is located_in the external ear.
Preauricular cyst
Preauricular sinus and fistula
Preauricular sinus or fistula
external ear disease
A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
Empyema of pleura
Empyema of pleura without fistula
Empyema with no fistula
Empyema with pleural fistula
Empyema without mention of fistula
Empyema, chest
Pleural empyema with fistula
Purulent pleurisy
Thorax abscess
abscess of pleural cavity
abscess of thorax
empyema
empyema with fistula
lung empyema
pleural empyema with no fistula
purulent pleuritis
pyothorax
pleural empyema
disseminated superficial actinic porokeratosis
porokeratosis
epidural spinal canal meningioma
A bone disease that is located_in the joint.
Ankylosis of joint of ankle and/or foot
Ankylosis of joint of forearm
Ankylosis of joint of hand
Ankylosis of joint of lower leg
Ankylosis of joint of upper arm
Ankylosis of multiple joints
Infectious arthropathy
Joint ankylosis of the ankle and foot
Joint ankylosis of the ankle and/or foot
Joint ankylosis of the forearm
Joint ankylosis of the hand
Joint ankylosis of the lower leg
Joint ankylosis of the pelvic region and thigh
Joint ankylosis of the shoulder region
Joint ankylosis of the upper arm
ankylosis of ankle and foot joint
ankylosis of forearm joint
ankylosis of hand joint
ankylosis of joint of multiple sites
ankylosis of joint of pelvic region and thigh
ankylosis of joint of shoulder region
ankylosis of lower leg joint
ankylosis of upper arm joint
arthropathy
Chondroma of the CNS
central nervous system chondroma
A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
extraskeletal chondroma
soft tissue chondroma
glossopharyngeal nerve paralysis
A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.
Cranial nerve Paralysis
cranial nerve palsy
A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
Diaphragmatic Hernia
congenital diaphragmatic hernia
Chromophobe adenoma of the Pituitary gland
chromophobe adenoma
A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
adenoma of the Pituitary gland
pituitary adenoma
Anomalous A-V excitation
Wolff-Parkinson-White pattern
anomalous atrioventricular excitation
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
Wolff-Parkinson-White syndrome
neoplasm of Rathke's Pouch
craniopharyngioma
tumors of Skull Base
skull base cancer
malignant Diencephalic tumor
malignant diencephalic neoplasm
tumor of Diencephalon
diencephalic neoplasm
Adamantinous Rathke's Pouch tumor
craniopharyngioma, adamantinomatous
adamantinous craniopharyngioma
Papillary Rathke's Pouch tumor
craniopharyngioma, papillary
papillary craniopharyngioma
Hemangiopericytic neoplasm
hemangiopericytic tumor
An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
Colonic hamartomatous polyp
Peutz Jeghers colon polyp
Peutz Jeghers polyp
Peutz-Jeghers polyp of small Intestine
gastric Peutz-Jeghers polyp
peutz-jeghers small bowel hamartoma
Peutz-Jeghers syndrome
Seminal Vesicle neoplasm
seminal vesicle tumour
tumor of seminal vesicle
tumour of seminal vesicle
seminal vesicle tumor
A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
male genital cancer
male reproductive system neoplasm
malignant neoplasm of male genital organ
malignant neoplasm of male genital organ or tract
malignant neoplasm of male genital organs
malignant tumor of male Reproductive system
malignant tumor of male genital organ
neoplasm of male genital organ
tumor of male Reproductive system
male genital neoplasm
male reproductive organ cancer
A medulloblastoma that is characterized by cells that are larger than would be normally expected.
Anaplastic medulloblastoma
large cell medulloblastoma
Vermis Medulloblastoma
cerebellar vermis medulloblastoma
medullomyoblastoma
adult brain medulloblastoma
adult medulloblastoma
A central nervous system embryonal tumor that occurs in adults.
adult CNS PNET
adult central nervous system primitive neuroectodermal neoplasm
adult central nervous system embryonal tumor
Medulloblastoma, melanotic
melanotic medulloblastoma
pediatric Medulloblastoma
childhood medulloblastoma
A central nervous system embryonal tumor that occurs in childhood.
childhood central nervous system primitive neuroectodermal neoplasm
pediatric CNS PNET
childhood central nervous system embryonal tumor
A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
Medulloblastoma with extensive nodularity
desmoplastic nodular medulloblastoma
nodular medulloblastoma
According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma.
desmoplastic/nodular medulloblastoma
A phlebitis that results from a blood clot in the vessel.
Phlebitis and thrombophlebitis of superficial vessels of lower extremities
Superficial thrombophlebitis of leg
Thrombophlebitis of a superficial leg vein
Thrombophlebitis of superficial veins of lower extremity
thrombophlebitis
A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
HNPCC
Hereditary Defective Mismatch Repair syndrome
Hereditary non-polyposis colon cancer
Hereditary non-polyposis colon cancer syndrome
Hereditary non-polyposis colorectal cancer
Hereditary non-polyposis colorectal cancer syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colon cancer syndrome
Hereditary nonpolyposis colorectal cancer syndrome
hereditary nonpolyposis colorectal cancer
hereditary nonpolyposis colorectal neoplasm
Lynch syndrome
AIP - acute intermittent porphyria
Pyrroloporphyria
porphyria intermittent acute
acute intermittent porphyria
A pancreatic cystadenoma that is characterized by the overproduction of insulin.
Insulin-Producing tumor of Islet cells
Islet cell adenoma
insulinoma
Eccrine Cystadenoma
Eccrine hidrocystoma of skin
apocrine cystadenoma
hidrocystoma
tubular Apocrine adenoma
apocrine adenoma
A sweat gland benign neoplasm that is located_in an apical sweat gland.
Hidradenoma of skin
Sweat gland adenoma
Syringoadenoma
hidradenoma
A bronchus cancer that has_material_basis_in epithelial cells.
BC - Bronchogenic carcinoma
bronchus carcinoma
A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
cancer of lung
carcinoma of lung
lung carcinoma
A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
Epidermoid cell carcinoma of the lung
squamous cell carcinoma of lung
lung squamous cell carcinoma
A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
NSCLC
Non-small cell lung cancer
non-small cell lung carcinoma
lung non-small cell carcinoma
A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
bronchogenic lung adenocarcinoma
nonsmall cell adenocarcinoma
adenocarcinoma of lung
lung adenocarcinoma
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
HGPS
Hutchinson Gilford syndrome
Hutchinson-Gilford Progeria syndrome
Hutchinson-Gilford disease
progeria
pancreatic serous cystadenoma
pancreatic cystadenoma
pancreatic serous cystic neoplasm
diffuse lipomatosis
steroid lipomatosis
mediastinal lipomatosis
pelvic lipomatosis
A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas.
Dercum disease
adiposis dolorosa
Overproduction of ACTH
pituitary-dependent Cushing disease
pituitary-dependent Cushing's disease
Adrenocortical hyperfunction
hyperadrenalism
hypercortisolism
adrenal gland hyperfunction
An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Adrenal cortical carcinoma
carcinoma of the Adrenal cortex
adrenocortical carcinoma
acute myocarditis
An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
adrenal cancer
adrenal neoplasm
malignant Adrenal tumor
malignant neoplasm of adrenal gland
neoplasm of adrenal gland
tumor of the Adrenal gland
adrenal gland cancer
A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
Eosinophilic Endomyocardial disease
Loeffler endocarditis
A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
Follicular adenocarcinoma
Follicular adenocarcinoma, well differentiated
Follicular carcinoma
Thyroid adenocarcinoma
thyroid gland follicular carcinoma
follicular thyroid carcinoma
A thyroid gland cancer that has_material_basis_in epithelial cells.
Thyroid carcinoma
head and neck cancer, Thyroid
thyroid gland carcinoma
Follicular adenocarcinoma, trabecular
Trabecular Follicular carcinoma
trabecular follicular adenocarcinoma
Trabecular adenocarcinoma
trabecular carcinoma
Merkel cell carcinoma
A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.
Papillary carcinoma of the Thyroid gland
Papillary carcinoma of thyroid
thyroid gland papillary carcinoma
papillary thyroid carcinoma
An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
Cardiomyopathy, constrictive
primary restrictive cardiomyopathy
Familial restrictive cardiomyopathy
Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].
restrictive cardiomyopathy
A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis.
PDTC
insular carcinoma
poorly differentiated carcinoma of thyroid gland
poorly differentiated thyroid gland carcinoma
poorly differentiated thyroid carcinoma
A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
Medullary carcinoma of the Thyroid gland
Parafollicular cell carcinoma
Ultimobranchial thyroid tumor
Ultimobranchial thyroid tumour
thyroid gland medullary carcinoma
medullary thyroid carcinoma
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Hallervorden-Spatz disease
Hallervorden-Spatz syndrome
NBIA1
Pigmentary pallidal degeneration
brain Iron Accumulation type I syndrome
neurodegeneration with brain iron accumulation 1
pantothenate kinase-associated neurodegeneration
A Bartholin's gland carcinoma that derives_from transitional epithelial cells.
Bartholin gland transitional cell carcinoma
Bartholin's gland transitional cell carcinoma
A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
Bartholin gland carcinoma
carcinoma of Bartholin's gland
Bartholin's gland carcinoma
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
disease
An ovarian epithelial cancer that derives_from epithelial transitional cells.
malignant ovarian transitional cell neoplasm
ovarian transitional cell cancer
transitional cell carcinoma of Ovary
ovarian transitional cell neoplasm
ovary transitional cell carcinoma
Cylindrical cell carcinoma
Schneiderian carcinoma
An endometrial carcinoma that derives_from transitional epithelial cells.
endometrial transitional cell carcinoma
A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
bladder transitional cell carcinoma
transitional cell carcinoma of bladder
urinary bladder urothelial carcinoma
urothelial bladder carcinoma
bladder urothelial carcinoma
A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of urinary bladder
bladder carcinoma
A fallopian tube carcinoma that derives_from epithelial transitional cells.
fallopian tube transitional cell carcinoma
A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
multidrug-resistant tuberculosis
A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
Papillary transitional cell carcinoma
papillary transitional carcinoma
An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
urethral transitional cell carcinoma
urethra transitional cell carcinoma
A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
transitional cell carcinoma, sarcomatoid
transitional spindle cell carcinoma
sarcomatoid transitional cell carcinoma
A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.
spindle cell carcinoma
sarcomatoid carcinoma
A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
ureterocele
Leather-bottle stomach
linitis plastica
An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
adenocarcinoma with Productive Fibrosis
scirrhous adenocarcinoma
A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
Angioma serpiginosum of skin
angioma serpiginosum
A stomach disease that is an inflammation of the lining of the stomach.
Erosive Gastritis
Erosive gastropathy
acute gastric mucosal erosion
gastritis
A gastrointestinal system disease that is located_in the mouth.
mouth disease
eosinophilic gastritis
eosinophilic gastroenteritis
A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
bacterial gastritis
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
fungal gastritis
lymphocytic gastritis
necrotizing gastritis
granulomatous gastritis
malignant tumor of Skeletal Muscle
skeletal muscle cancer
tumor of Skeletal Muscle
skeletal muscle neoplasm
A musculoskeletal system cancer that is located_in muscle.
malignant neoplasm of muscle
malignant tumor of muscle
malignant tumor of the Muscle
myosarcoma
muscle cancer
A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
Rhabdomyosarcoma of Liver
liver rhabdomyosarcoma
Rhabdomyosarcoma of the CNS
central nervous system rhabdomyosarcoma
A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.
Rhabdomyosarcoma of mediastinum
mediastinum rhabdomyosarcoma
A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
sarcoma of mediastinum
mediastinum sarcoma
alveolar childhood rhabdomyosarcoma
alveolar rhabdomyosarcoma
A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
Rhabdomyosarcoma of rectum
rectum rhabdomyosarcoma
A prostate cancer that is located_in the prostate.
sarcoma of the prostate
prostate sarcoma
Rhabdomyosarcoma with ganglionic differentiation
ectomesenchymoma
A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles.
Rhabdomyosarcoma of the gallbladder
gallbladder rhabdomyosarcoma
A sarcoma that is located_in the gallbladder.
malignant mesenchymal tumor of gallbladder
gallbladder sarcoma
An ovary sarcoma that arises from skeletal muscle progenitors.
Rhabdomyosarcoma of Ovary
ovary rhabdomyosarcoma
A breast sarcoma that arises from skeletal muscle cells.
Rhabdomyosarcoma of the breast
breast rhabdomyosarcoma
A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
Rhabdomyosarcoma of testis
testis rhabdomyosarcoma
A sarcoma and malignant neoplasm of testis that is located_in the testis.
sarcoma of testis
testis sarcoma
A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
sarcoma of the bile duct
bile duct sarcoma
A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
rhabdomyosarcoma of anus
anus rhabdomyosarcoma
A sarcoma and malignant neoplasm of anus that is located_in the anus.
sarcoma of anus
anus sarcoma
cystadenocarcinoma of pancreas
pancreatic cystadenocarcinoma
A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
pancreas adenocarcinoma
adenocarcinoma of the pancreas
pancreatic adenocarcinoma
biliary cystadenocarcinoma
bile duct cystadenocarcinoma
A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
Tricuspid stenosis
tricuspid valve stenosis
A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
Valvular heart disease
heart valve disease
A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
Tricuspid incompetence
Tricuspid regurgitation
Tricuspid valve regurgitation
tricuspid valve insufficiency
testicular trophoblastic tumor
A germ cell and embryonal cancer that derives_from trophoblastic tissue.
Trophoblastic tumor
trophoblastic neoplasm
testicular pure germ cell tumor
disorder of liver
hepatic disorder
liver disease
A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
Dyspraxia
Dyspraxia syndrome
agnosia
A cervical carcinosarcoma that is located_in the cervix.
cervical Muellerian adenosarcoma
cervical Mullerian adenosarcoma
cervical adenosarcoma
A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
cervical malignant mixed Mullerian tumor
cervical malignant mixed mesodermal mullerian tumor
cervical mixed epithelial and mesenchymal neoplasm
cervical carcinosarcoma
An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
uterine Corpus mullerian adenosarcoma
adenosarcoma of uterine corpus
uterine corpus adenosarcoma
A uterine corpus cancer that has_material_basis_in more than one type of cell.
malignant mixed tumor of Corpus Uteri
uterine body mixed cancer
An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
Ovarian mullerian Adenosarcoma
ovarian mesodermal adenosarcoma
A vaginal carcinosarcoma derives_from the glands that line the uterus.
vaginal adenosarcoma
Colonic neuroendocrine tumor
colon neuroendocrine neoplasm
intestinal neuroendocrine benign tumour
neuroendocrine tumor of Intestine
neuroendocrine tumour of Intestine
intestinal neuroendocrine benign tumor
myxosarcoma
A biliary tract disease located_in one or more bile ducts.
bile duct disorder
disorder of bile duct
bile duct disease
A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.
intraorbital meningioma
A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
malignant neoplasm of orbit
neoplasm of orbit proper
orbit cancer
orbital tumor
orbital cancer
GI adenoma
gastrointestinal adenoma
gastrointestinal neuroendocrine benign tumor
A chordoma that is located_in the skull base.
Chordoma of the Skull Base
skull base chordoma
A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
chondroid chordoma
A chordoma that derives_from the spine.
Chordoma of Spine
spinal chordoma
A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
dentinogenesis imperfecta
A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.
secondary syphilis of viscera or bone
secondary syphilis
An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
CA - skin cancer
malignant neoplasm of skin
melanoma and Non-melanoma skin cancer
cancer of skin
skin cancer
differentiating neuroblastoma
ganglioneuroblastoma
A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.
neuroblastoma of Cerebrum
neuroblastoma of brain
neuroblastoma of the cerebral hemisphere
cerebral neuroblastoma
Rh incompatibility affecting management of mother
Rh isoimmunization
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Scleroderma
Scleroderma syndrome
progressive systemic sclerosis
systemic sclerosis
systemic scleroderma
A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
Normocalcemic pseudohypoparathyroidism
PPHP
pseudopseudohypoparathyroidism
A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.
PHP
pseudohypoparathyroidism
A speech disorder that involves the automatic repetition of vocalizations made by another person.
echolalia
A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
dermatosclerosis
scleroderma
A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
disorder of glucose metabolism
glucose metabolism disease
hyperglycemia
A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.
Femoral nerve lesions
femoral nerve dysfunction
femoral neuropathy
A hair disease characterized by hair growth that is abnormal in quantity or location.
hypertrichosis
peroneal neuropathy
A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
Brainstem Neuroglial tumor
brain stem glioma
malignant neoplasm of brain stem
malignant neoplasm of brainstem
neoplasm of adult brain stem
neoplasm of brain stem
primary brain Stem tumor
primary brain stem neoplasm
brain stem cancer
cerebellar cancer
malignant tumor of Cerebellum
cerebellum cancer
A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
pediatric tumor of Brainstem
childhood brain stem neoplasm
A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
pediatric Infratentorial tumor
childhood infratentorial neoplasm
Intraparenchymal Clear cell meningioma of the Brainstem
brainstem intraparenchymal clear cell meningioma
An integumentary system disease that is located_in hair.
hair disease
clear cell meningioma
A meningioma that affects the posterior cranial fossa.
meningioma of the Posterior Cranial Fossa
posterior cranial fossa meningioma
posterior fossa meningioma
A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
malignant ovarian Brenner tumor
A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
congenital structural myopathy
An endometrial stromal tumor that has_material_basis_in connective tissue.
ESS
Undifferentiated endometrial sarcoma
endometrial stromal sarcoma, high grade
endometrial stromal sarcoma
A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.
uterine corpus endometrial stromal tumor
uterine corpus endometrial stromal sarcoma
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
myopathy
malignant tumor of Smooth Muscle
smooth muscle cancer
histiocytoma
A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
extraosseous Ewing's sarcoma
extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
extraskeletal Ewing sarcom
extraosseous Ewing sarcoma
A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
Clear cell sarcoma of soft Parts
adult soft part clear cell sarcoma
malignant melanoma of soft tissues
melanoma, malignant, of soft parts
malignant melanoma of soft parts
clear cell sarcoma
A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
spindle cell sarcoma
A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
MMMT
malignant mixed Mullerian tumor
malignant mixed mesodermal (mullerian) tumor
mesodermal mixed tumor
mixed Mesodermal (mullerian) tumor
mullerian mixed tumor
carcinosarcoma
A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
alveolar soft part sarcoma
A kidney cancer that is located in the kidney's connective tissue.
renal sarcoma
sarcoma of kidney
kidney sarcoma
Coronary artery stenosis
coronary stenosis
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
Gerstmann-Straussler-Scheinker disease
PRION DEMENTIA
Gerstmann-Straussler-Scheinker syndrome
An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
conjunctival disease
A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
Alexander's disease
Alexander disease
An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
melorheostosis
A bone remodeling disease that results_in abnormal elevated bone density or mass.
osteosclerosis
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
cortical congenital hyperostosis
infantile cortical hyperostosis
Caffey disease
An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
Piere-Robin syndrome
Pierre Robin Malformation
Weissenbacher-Zweymuller syndrome
A leiomyoma that is located_in the blood vessels.
vascular leiomyoma
angiomyoma
intravascular angioleiomyoma
An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
Infection by Microspora
Infection by Microsporea
Infection by Microsporida
microsporidiosis
A basal cell carcinoma that is located_in the penis.
basal cell carcinoma of the penis
penis basal cell carcinoma
Basal cell carcinoma of scrotum
basal cell carcinoma of the scrotum
scrotum basal cell carcinoma
A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
Basal cell carcinoma, nodular
Circumscribed solid basal cell carcinoma
skin nodulo-ulcerative basal cell carcinoma
skin solid (nodular) Basal cell carcinoma
nodular basal cell carcinoma
A basal cell carcinoma that is located_in the anal margin.
Basal cell carcinoma of Perianal skin
basal cell carcinoma of anal margin
anal margin basal cell carcinoma
An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
Perianal skin carcinoma
carcinoma of anal margin
anal margin carcinoma
A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.
sebaceous basal cell carcinoma
skin basosebaceous basal cell carcinoma
skin nasal cell carcinoma with sebaceous differentiation
Basal cell carcinoma of the External ear
basal cell carcinoma of external ear
external ear basal cell carcinoma
An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the External ear
carcinoma of external ear
external ear carcinoma
A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.
gynatresia
Basal cell carcinoma - adamantinoid
Melanotic adamantinoma of skin
skin adamantinoid basal cell epithelioma
adamantinoid basal cell epithelioma
Fibroepithelioma of Pinkus
Fibroepithelioma of Pinkus type
Pinkus tumor
fibroepithelial basal cell carcinoma
Basal cell carcinoma, morphea
Cicatricial basal-cell carcinoma
Morphea-type (Sclerosing) Basal cell carcinoma
morpheaform basal cell carcinoma
skin clear cell basal cell carcinoma
clear cell basal cell carcinoma
A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
skin adenoid basal cell carcinoma
adenoid basal cell carcinoma
A basal cell carcinoma that is characterized by follicular differentiation.
Skin Follicular Basal Cell Carcinoma
follicular (pilar) basal cell carcinoma
follicular basal cell carcinoma
A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
Halasz syndrome
congenital venolobar syndrome
hypogenetic lung syndrome
mirror-image lung syndrome
pulmonary venolobar syndrome
total anomalous pulmonary venous return
vena cava bronchovascular syndrome
scimitar syndrome
Multifocal superficial basal cell carcinoma
Superficial multicentric basal-cell carcinoma
multicentric basal cell carcinoma
superficial basal cell carcinoma
A vulva carcinoma that has_material_basis_in basal cells.
Basal cell carcinoma of Vulva
basal cell carcinoma of the vulva
vulva basal cell carcinoma
skin sarcomatoid basal cell carcinoma
sarcomatoid basal cell carcinoma
skin signet ring cell basal cell carcinoma
signet ring basal cell carcinoma
A benign giant cell tumor that results_in the presence of multinucleated giant cells.
Giant cell neoplasm of bone
Giant cell tumor of bone
Giant cell tumour of bone
bone giant cell tumour
giant cell myeloma
osteoclastoma
bone giant cell tumor
A radiculopathy that is present in more than one nerve.
polyradiculopathy
smooth muscle tumor
An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
acquired epidermolysis bullosa
epidermolysis bullosa acquisita
large cell acanthoma
pilar sheath acanthoma
epidermolytic acanthoma
acantholytic acanthoma
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
Ebola
Ebola disease
Ebola hemorrhagic fever
Ebola virus disease
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburg virus (Orthomarburgvirus marburgense), which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
Marburg disease
Marburg virus disease
Marburg hemorrhagic fever
A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
Erdheim-Chester disease
A mouth disease that is characterized by long-lasting burning sensations of the mouth.
Orodynia
Stomatopyrosis
burning mouth syndrome
splenic manifestation of prolymphocytic leukemia
A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
favus
tinea favosa
A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
Scalp ringworm
Trichophyton rubrum tinea capitis
dermatophytosis of scalp or beard
tinea capitis due to Trichophyton rubrum
Dermatophytosis of scalp
tinea capitis
Protocoproporphyria
Protoporphyrinogen oxidase deficiency
variegate porphyria
Lymph cyst
lymphocele
malignant neoplasm of ciliary body
malignant tumor of ciliary body
malignant tumor of the Ciliary body
neoplasm of ciliary body
tumor of the Ciliary body
ciliary body cancer
An iris disease that is located_in the ciliary body.
ciliary body disease
amelanotic melanoma
epithelioid melanoma
epithelioid cell melanoma
A female reproductive organ cancer that is located_in the cervix.
cervical neoplasm
cervix cancer
cervix uteri cancer
neoplasm of uterine cervix
tumor of the Cervix Uteri
uterine cervical neoplasm
cervical cancer
A breast cancer that arises_from melanocytes.
breast melanoma
malignant melanoma of breast
malignant breast melanoma
A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
cortisol 11-beta-ketoreductase deficiency
syndrome of apparent mineralocorticoid excess
apparent mineralocorticoid excess syndrome
An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
myasthenia gravis
A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
Allergy to eggs
egg allergy
A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
allergy to nuts
nut allergic reaction
nut allergy
An autoimmune disease affecting the nervous system.
autoimmune nervous system disorder
autoimmune disease of the nervous system
An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
Alveolar Rhabdomyosarcoma of the orbit
orbit alveolar rhabdomyosarcoma
A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.
papillary epidermoid carcinoma
papillary squamous carcinoma
osseous peripheral Neuroepithelioma
bone peripheral neuroepithelioma
peripheral Neuroectodermal tumor of soft tissues
soft tissue peripheral neuroepithelioma
Reticulohistiocytoma
solitary reticulohistiocytoma
reticulohistiocytic granuloma
granulomatous dermatitis
Acropustulosis
Palmoplantar Pustulosis
Pustular psoriasis of the palms and/or soles
pustulosis of palm and sole
acneiform dermatitis
A neuropathy that affect the nerves that control the voluntary muscles.
neuromuscular disease
dermatosis papulosa nigra
Occupational allergic contact dermatitis
Occupational eczema
occupational dermatitis
spongiotic dermatitis
An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.
Photosensitisation reaction
Photosensitive Dermatitis
Photosensitiveness
phototoxic dermatitis
folliculitis
A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes.
cervix melanoma
Fibroxanthoma
benign fibrous histiocytoma
fibrous histiocytoma
Pleomorphic fibroma
Sclerosing angioma
Sclerosing angioma of skin
benign Cutaneous fibrous Histiocytoma
dermatofibroma
fibrohistiocytic tumor
fibrous histiocytoma of skin
fibrous xanthoma of skin
cutaneous fibrous histiocytoma
benign deep fibrous histiocytoma
malignant adenofibroma
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
Sea-blue histiocyte syndrome
sea-blue histiocytosis
A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk.
Multiple eruptive juvenile xanthogranuloma
Naevoxanthoendothelioma
Xanthoma neviforme
juvenile xanthogranuloma
A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
dyslexia
Somatostatin cell neoplasm
Somatostatin cell tumour
somatostatinoma
pancreatic Somatostatin cell tumor
pancreatic delta cell somatostatin producing neoplasm
pancreatic somatostatinoma
pancreatic Delta cell tumor
pancreatic delta cell neoplasm
small Intestine neuroendocrine tumor
small intestine neuroendocrine neoplasm
meningioma of the Cavernous sinus
cavernous sinus meningioma
meningioma of the Anterior Fossa
anterior cranial fossa meningioma
meningioma of the Skull Base
skull base meningioma
germinoma of CNS
central nervous system germinoma
A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
central nervous system germ cell tumour
germ cell tumor of the CNS
germ cell tumour of the CNS
central nervous system germ cell tumor
A germinoma that has_material_basis_in cells that make sperm and eggs.
Seminoma, Pure
seminoma
An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.
cervical alveolar soft part sarcoma
cystoid macular edema
A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Macular degeneration of retina
macular degeneration
macular edema
macular oedema
macular retinal oedema
macular retinal edema
Aldosteronism with hyperplasia of the adrenal cortex
Bartter's syndrome
Bartter disease
A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
RCC
adenocarcinoma of kidney
hypernephroma
renal cell carcinoma
A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
carcinoma of kidney
kidney carcinoma
renal carcinoma
pediatric renal cell carcinoma
childhood kidney cell carcinoma
An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
Cushing syndrome
Cushing's syndrome
hyperaldosteronism
primary hyperaldosteronism
cystadenocarcinoma of kidney
renal cystadenocarcinoma
multilocular clear cell renal cell carcinoma
A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.
carcinoma of renal Collecting duct
renal Medullary carcinoma
renal carcinoma, collecting duct type
collecting duct carcinoma
A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
Chromophil carcinoma of kidney
papillary kidney carcinoma
sporadic papillary renal cell carcinoma
papillary renal cell carcinoma
A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
Clear cell carcinoma of kidney
clear cell kidney carcinoma
conventional (Clear cell) renal cell carcinoma
conventional renal cell carcinoma
renal clear cell carcinoma
Clear-cell metastatic renal cell carcinoma
MESH:C538445 added from NeuroDevNet [WAK].
clear cell renal cell carcinoma
An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Mesonephroid Clear cell carcinoma
Mesonephroma, malignant
Water-clear cell adenocarcinoma
Water-clear cell carcinoma
Wolffian duct neoplasm
malignant Mesonephroma
mesonephroma
clear cell adenocarcinoma
A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
Chromophobe carcinoma of kidney
chromophobe adenocarcinoma
kidney chromophobe
renal cell carcinoma, chromophobe cell
chromophobe renal cell carcinoma
mucinous tubular and spindle renal cell carcinoma
renal cell carcinoma, spindle cell
sarcomatoid renal cell carcinoma
pseudohypoaldosteronism
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
Achondroplastic physique
Chondrodystrophia
osteosclerosis congenita
achondroplasia
A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
Non-seasonal allergic rhinitis
Perenial allergic rhinitis
atopic rhinitis
hay fever
pollenosis
seasonal allergic rhinitis
allergic rhinitis
A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
rhinitis
Mesothelioma, biphasic, malignant
mixed Mesothelioma
malignant biphasic mesothelioma
malignant fibrous mesothelioma
spindled mesothelioma
sarcomatoid mesothelioma
malignant epithelial mesothelioma
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
myotonic disease
hypopotassemia
potassium deficiency disorder
hypokalemia
A central nervous system sarcoma that is located_in the inner lining of blood vessels.
hemangiosarcoma of the CNS
central nervous system angiosarcoma
An angiosarcoma that affects children.
paediatric angiosarcoma
paediatric hemangiosarcoma
pediatric angiosarcoma
pediatric hemangiosarcoma
childhood angiosarcoma
An angiosarcoma that is located_in the aorta.
Aortic hemangiosarcoma
aorta angiosarcoma
An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.
hemangiosarcoma of the breast
breast angiosarcoma
conventional angiosarcoma
An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
hemangiosarcoma of gallbladder
gallbladder angiosarcoma
A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
hemangiosarcoma of the Thyroid
thyroid angiosarcoma
A thyroid gland cancer that is located_in the supporting cells of the thyroid.
sarcoma of the Thyroid gland
thyroid sarcoma
An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration.
angiosarcoma of skin
hemangiosarcoma of the skin
skin angiosarcoma
A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
mixed tumor of the Salivary gland
pleomorphic adenoma
A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
endometrial stromal sarcoma of the cervix
cervical endometrial stromal sarcoma
A cervical cancer that derives_from the fibrous connective tissue of the endometrium.
cervix endometrial stromal tumor
angiosarcoma of the Superior Vena Cava
superior vena cava angiosarcoma
An angiosarcoma and sarcoma of prostate that is located_in the prostate.
Prostatic hemangiosarcoma
prostate angiosarcoma
An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
hemangiosarcoma of mediastinum
mediastinum angiosarcoma
An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels.
hemangiosarcoma of Ovary
ovarian angiosarcoma
A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.
MEC
mucoepidermoid carcinoma
A syndrome that affects growth, cranial development, hair growth and dental development.
Francois dyscephalic syndrome
Hallerman - Streiff syndrome
Hallermann's syndrome
Hallermann-Streiff syndrome
An agnosia that involves a severe problem with recalling words or names.
Anomic aphasia
anomia
nominal aphasia
Pituitary gland Basophilic adenoma
basophil adenoma
An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
retrograde amnesia
mesenchymal chondrosarcoma
pediatric mesenchymal chondrosarcoma
childhood mesenchymal chondrosarcoma
An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage.
adult mesenchymal chondrosarcoma
mesenchymal extraosseous chondrosarcoma
extraskeletal mesenchymal chondrosarcoma
A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern.
Myxoid extraosseous chondrosarcoma
extraosseous chondrosarcoma
nomenclature update.
extraskeletal myxoid chondrosarcoma
anal neoplasm
anal tumors
neoplasm of anus
anus benign neoplasm
A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.
large cell carcinoma
large cell carcinoma of the Thymus
thymus large cell carcinoma
Thymoma, type C
type C thymoma
An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells.
Non-small-cell type neuroendocrine carcinoma of Ovary
ovarian large-cell neuroendocrine carcinoma
large cell carcinoma of lung
large cell lung carcinoma
lung large cell carcinoma
A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
Ascariasis - roundworm
Ascaris lumbricoides infection
ascariasis
An endometritis that is present for weeks or more and does not have an identifiable causative organism.
non specific chronic endometritis
An endometritis that is characterized by the presence of granulomas in the uterus.
granulomatous endometritis
Endocarditis lenta
SBE - Subacute bacterial endocarditis
Subacute endocarditis, lenta
subacute bacterial endocarditis
Choroid meningioma
meningioma of the Choroid Plexus
choroid plexus meningioma
familial meningioma
meningioma, benign
benign meningioma
secretory meningioma
Lymphoplasmocyte-rich meningioma
lymphoplasmacyte-rich meningioma
pediatric meningioma
childhood meningioma
microcystic meningioma
An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.
Bullous ichthyosiform erythroderma
Epidermolytic palmoplantar hyperkeratosis
epidermolytic ichthyosis
epidermolytic hyperkeratosis
A biliary tract cancer that is located_in the bile duct.
Ca extrahepatic bile ducts
bile duct tumor
malignant neoplasm of the extrahepatic bile duct
bile duct cancer
Myomatous neoplasm
Myomatous tumor
muscle neoplasm
muscle tissue neoplasm
neoplasm of muscle
muscle benign neoplasm
A gastrointestinal system benign neoplasm that is located_in the intestine.
intestinal tumors
intestine growth
neoplasm of intestinal tract
intestinal benign neoplasm
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Holoprosencephaly sequence
holoprosencephaly
A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
ENCHONDROMATOSIS, MULTIPLE
Enchondromatosis with haemangiomata
Kast's syndrome
dyschondroplasia
osteochondromatosis
Ollier disease
hydranencephaly
Inverting papilloma of the nasal cavity
nasal cavity inverting papilloma
submandibular lymphadenitis
submandibular adenitis
cervical lymphadenitis
cervical adenitis
postauricular lymphadenitis
Suppurative lymphadenopathy
suppurative lymphadenitis
axillary adenitis
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
epidermolysis bullosa simplex
Retinal tumor
malignant Retinal neoplasm
malignant neoplasm of retina
malignant tumor of retina
neoplasm of retina
retinal cancer
Hereditary Retinoblastoma
familial retinoblastoma
A retinoblastoma that develops in both eyes.
bilateral retinoblastoma
A retinoblastoma that effects only one eye.
unilateral retinoblastoma
A retinoblastoma that is located_in the eye and has not spread to other parts of the body.
intraocular retinoblastoma
A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.
extraocular retinoblastoma
benign mastocytoma
extracutaneous mastocytoma
ISM
indolent systemic mastocytosis
A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury.
thalamic disease
venous hemangioma
A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
Androgen resistance syndrome
Androgen-Insensitivity Syndrome
Feminisation - testicular
Goldberg - Maxwell syndrome
Goldberg-Maxwell syndrome
testicular Feminization syndrome
testicular feminization
androgen insensitivity syndrome
uremic neuropathy
A corneal disease that is characterized by inflammation of the cornea.
keratitis
A mucoepidermoid carcinoma located_in the thymus.
Mucoepidermoid carcinoma of the Thymus
thymus mucoepidermoid carcinoma
A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions.
Mucoepidermoid carcinoma of the breast
mucoepidermoid carcinoma of breast
breast mucoepidermoid carcinoma
Intramuscular Angioma
intramuscular hemangioma
A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.
Metaplastic carcinoma of the breast
metaplastic carcinoma of breast
breast metaplastic carcinoma
A mucoepidermoid carcinoma located_in a bile duct.
Mucoepidermoid carcinoma of the bile duct
bile duct mucoepidermoid carcinoma
A cholangiocarcinoma that arises from the extrahepatic bile ducts.
carcinoma of extrahepatic bile duct
extrahepatic bile duct cancer
extrahepatic bile duct carcinoma
Mucoepidermoid carcinoma of skin
Mucoepidermoid skin carcinoma
cutaneous mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the lacrimal gland.
Mucoepidermoid carcinoma of the lacrimal gland
lacrimal gland mucoepidermoid carcinoma
Mucoepidermoid carcinoma of the esophagus
mucoepidermoid esophageal carcinoma
A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue.
mucoepidermoid thyroid carcinoma
thyroid gland mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the larynx.
Mucoepidermoid carcinoma of Larynx
laryngeal mucoepidermoid carcinoma
deep angioma
childhood mediastinal neurogenic tumour
paediatric neurogenic tumour of mediastinum
pediatric neurogenic tumor of mediastinum
childhood mediastinal neurogenic tumor
A mediastinal cancer that has_material_basis_in neural cells.
neurogenic tumor of mediastinum
malignant mediastinal neurogenic neoplasm
A globe disease that is characterized by inflammation of the inside of the eye.
endophthalmitis
neural Plexus tumors
nerve plexus neoplasm
intraneural perineurioma
soft tissue Perineurioma
perineurioma
tumor of nerve Root
nerve root neoplasm
Epicardial tumor
malignant Epicardial tumor
malignant neoplasm of epicardium
epicardium cancer
prostate disease
verrucous keratotic hemangioma
Mongolian Macula
mongolian spot
A brain cancer that is located_in the infratentorial region.
brain neoplasm, Infratentorial
malignant Infratentorial tumors
infratentorial cancer
tumor of the Cervicomedullary Junction
cervicomedullary junction neoplasm
meningioma of the Foramen Magnum
foramen magnum meningioma
Angioma of the skin
Angiomatous naevus of skin
skin hemangioma
neuroendocrine tumor of the stomach
gastric neuroendocrine neoplasm
germ cell tumor of the stomach
germ cell tumour of the stomach
malignant gastric germ cell tumour
malignant gastric germ cell tumor
A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.
extragonadal germ cell malignant tumor
neoplasm of Extragonadal germ cell
tumor of extragonadal germ cell
extragonadal germ cell cancer
A malignant giant cell tumor that is composed_of multinucleated giant cells.
Giant cell sarcoma of the bone
Giant cell tumor of bone, malignant
bone giant cell sarcoma
hemangioma of the Subglottis
subglottic angioma
A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food.
vasomotor rhinitis
calciphylaxis
A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
physiological malfunction arising from mental factor
psychophysiologic disorder
psychosomatic disorder
somatoform disorder
A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.
testicular Brenner tumor
Angiolymphoid hyperplasia with eosinophilia
epithelioid haemangioma
epithelioid hemangioma
histiocytoid hemangioma
A mixed germ cell cancer that is located_in the testis.
mixed germ cell tumor of testis
mixed germ cell tumour of testis
mixed testicular germ cell tumour
mixed testicular germ cell tumor
A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
placenta accreta
meningioma of the middle Cranial Fossa
middle cranial fossa meningioma
striatonigral degeneration
Shy-Drager syndrome
multiple system atrophy
testicular Leydig cell neoplasm
testicular Leydig cell tumor
A sex cord-gonadal stromal tumor that is located_in the testis.
Sex Cord-Stromal tumor of testis
testicular sex cord-stromal neoplasm
A breast benign neoplasm that is characterized by a collection of excess blood vessels.
Angioma of the breast
hemangioma of breast
breast hemangioma
A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children.
Blastoma of lung
pulmonary blastoma
A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells.
Blastoma
embryoma
classic pulmonary blastoma
epithelial predominant pulmonary blastoma
A pulmonary blastoma that derives_from the lung or pleural cavity.
pleuropulmonary blastoma
A kidney cancer that is characterized by the presence of fibroblastic cells.
congenital mesoblastic nephroma
rapidly progressive glomerulonephritis
exudative glomerulonephritis
proliferative glomerulonephritis
focal embolic glomerulonephritis
A Goodpasture syndrome that is characterized by damage to only kidney capillaries.
anti-GBM glomerulonephritis
anti-basement membrane glomerulonephritis
diffuse glomerulonephritis
subacute glomerulonephritis
mesangial proliferative glomerulonephritis
Immune Complex Glomerulonephritis
immune-complex glomerulonephritis
Cerebellopontine Angle PNET
cerebellopontine angle primitive neuroectodermal tumor
intracranial PNET
intracranial primitive neuroectodermal tumor
Angiokeratoma of skin
Cutaneous Angiokeratoma
skin angiokeratoma
angiokeratoma
Diktyoma, malignant
Medulloepithelioma, central nervous system
medulloepithelioma
Supratentorial PNET
supratentorial primitive neuroectodermal tumor
A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.
GM2 Activator Deficiency
Tay-Sachs disease AB variant
Tay-Sachs disease, variant AB
GM2 gangliosidosis, AB variant
systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
SM-AHNMD
ASM
Lymphadenopathic mastocytosis with eosinophilia
aggressive systemic mastocytosis
A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
movement disease
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.
Cholestanol storage disease
cerebrotendinous xanthomatosis
adult brain stem Gliosarcoma
adult brainstem gliosarcoma
A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells.
adult Brainstem Neuroglial tumor
adult brain stem glioma
An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.
ganglioneuroma
hemangioma of peripheral nerve
An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.
adenosquamous lung carcinoma
Cavernoma
Cavernous haemangioma
cavernous hemangioma
A squamous cell carcinoma that contains squamous cells and gland-like cells.
Adenosquamous cell carcinoma
mixed adenocarcinoma and squamous carcinoma
adenosquamous carcinoma
A carcinoma that derives_from myoepithelial cells.
myoepithelial carcinoma
Sebaceous carcinoma
adenocarcinoma of the Sebaceous gland
sebaceous adenocarcinoma
A skin cancer that arises from the sebaceous glands.
Malignant Sebaceous Neoplasm
malignant Sebaceous tumor
malignant neoplasm of sebaceous gland
sebaceous carcinoma
Subependymal astrocytoma
WHO grade I Ependymal tumor
mixed subependymoma-ependymoma
subependymal glioma
WHO grade II Ependymal tumor
epithelial ependymoma
benign ependymoma
A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies.
pilomyxoid astrocytoma
Intradural Extramedullary Astrocytic tumor of the Cauda Equina
cauda equina intradural extramedullary astrocytoma
tumor of the Cauda Equina
cauda equina neoplasm
astrocytoma of Cerebellum
cerebellar astrocytoma
A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
Piloid astrocytoma
grade I Astrocytic tumor
pilocytic astrocytoma
A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.
Pleomorphic Xantho-astrocytoma
pleomorphic xanthoastrocytoma
Cerebellar Pilocytic astrocytoma
pilocytic astrocytoma of cerebellum
astrocytoma of Diencephalon
diencephalic astrocytoma
gliofibroma
A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.
Diffuse astrocytoma, low grade
WHO grade II astrocytoma
diffuse astrocytoma
Pineal Astrocytic tumor
pineal gland astrocytoma
glomeruloid hemangioma
A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes.
Brainstem astrocytoma
brain stem astrocytic neoplasm
Spinal astrocytoma
astrocytoma of spinal cord
spinal cord astrocytoma
A salivary gland carcinoma 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. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
Cylindroma
salivary gland adenoid cystic carcinoma
A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli.
adenoid cystic carcinoma of the Cervix Uteri
cervical adenoid cystic carcinoma
adenoid cystic carcinoma of the prostate
adenoid cystic carcinoma of prostate
prostate adenoid cystic carcinoma
adenoid cystic carcinoma of Larynx
laryngeal adenoid cystic carcinoma
adenoid cystic carcinoma of lacrimal gland
lacrimal gland adenoid cystic carcinoma
pulmonary adenoid cystic carcinoma
adenoid cystic carcinoma of lung
lung adenoid cystic carcinoma
Tracheal adenoid cystic carcinoma
trachea adenoid cystic carcinoma
A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns.
Mammary Adenocystic carcinoma
adenoid cystic carcinoma of breast
breast adenoid cystic carcinoma
An esophageal carcinoma that derives_from epithelial cells of the salivary gland.
adenoid cystic carcinoma, esophagus
esophageal adenoid cystic carcinoma
A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material.
Bartholin gland adenoid cystic carcinoma
Bartholin's gland adenoid cystic carcinoma
A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope.
Clear cell sarcoma of kidney
childhood kidney clear cell sarcoma
renal Clear cell sarcoma
kidney clear cell sarcoma
An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough.
Tuberculous adenitis
Tuberculous lymphadenopathy
king's evil
scrofula
lymph node tuberculosis
A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
Janz syndrome
juvenile myoclonic epilepsy
A middle ear carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the middle ear
adenocarcinoma of middle ear
middle ear adenocarcinoma
A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the middle ear
carcinoma of middle ear
middle ear carcinoma
An ovary adenocarcinoma that arises from the rete ovarii.
rete ovarii adenocarcinoma
A female reporoductive organ benign neoplasm that is located_in the rete ovarii.
rete ovarii benign neoplasm
A bile duct carcinoma that derives_from epithelial cells of glandular origin.
bile duct adenocarcinoma
A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
bile duct carcinoma
primary peritoneal serous adenocarcinoma
peritoneal serous adenocarcinoma
An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Ca appendix
carcinoma of appendix
appendix carcinoma
A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.
granular cell adenocarcinoma
granular cell carcinoma
A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.
Exocrine pancreas carcinoma
carcinoma of pancreas
Pancreatic carcinoma, familial
exocrine cancer
pancreatic carcinoma
A small intestine carcinoma that derives_from epithelial cells of glandular origin.
small intestinal adenocarcinoma
adenocarcinoma of small Intestine
small intestine adenocarcinoma
A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
small intestinal carcinoma
cancer of the small bowel
small bowel cancer
small intestine carcinoma
A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
Ca anus
carcinoma of anus
anal carcinoma
An urethra cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the urethra
urethra adenocarcinoma
An esophageal carcinoma that derives_from epithelial cells of glandular origin.
Oesophageal adenocarcinoma
esophagus adenocarcinoma
Basophil adenocarcinoma
Basophil carcinoma
basophilic carcinoma
basophilic adenocarcinoma
carcinoma of the Pituitary gland
pituitary carcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture.
villous adenocarcinoma
A renal pelvis carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the kidney Pelvis
adenocarcinoma of renal pelvis
renal pelvis adenocarcinoma
carcinoma of kidney Pelvis
malignant neoplasm of renal pelvis
malignant renal Pelvis neoplasm
malignant tumor of renal pelvis
renal pelvis cancer
renal pelvis carcinoma
acquired hemangioma
malignant Eccrine tumor
malignant eccrine skin neoplasm
eccrine sweat gland cancer
A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm.
Juvenile Secretory carcinoma of breast
juvenile breast carcinoma
juvenile carcinoma of the breast
breast secretory carcinoma
A thymic carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the Thymus
thymus adenocarcinoma
A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.
Bronchioalveolar lung carcinoma
Bronchioloalveolar carcinoma
Minimally Invasive Lung Adenocarcinoma
bronchiolo-alveolar adenocarcinoma
An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
Klatskin tumor
Klatskin tumour
Klatskin's tumour
Perihilar extrahepatic bile duct carcinoma
hilar cholangiocarcinoma
hilar cholangiocellular carcinoma
Klatskin's tumor
A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.
Intrahepatic bile duct carcinoma
peripheral Cholangiocarcinoma
intrahepatic cholangiocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma.
tubular carcinoma
tubular adenocarcinoma
A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the nasal cavity
adenocarcinoma of nasal cavity
nasal cavity adenocarcinoma
A nasal cavity cancer that has_material_basis_in epithelial cells.
cancer of nasal cavity
carcinoma of nasal cavity
nasal cavity carcinoma
An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
ampulla of vater cancer
ampullary carcinoma
carcinoma of ampulla of vater
ampulla of Vater carcinoma
An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin.
apocrine adenocarcinoma
apocrine gland carcinoma
carcinoma of the Apocrine gland
apocrine carcinoma
malignant Apocrine tumor
apocrine sweat gland cancer
An ureter carcinoma that derives_from epithelial cells of glandular origin.
ureteral adenocarcinoma
adenocarcinoma of ureter
ureter adenocarcinoma
An ureter cancer that is located_in the ureter.
ureteral carcinoma
ureter carcinoma
An in situ carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma in situ
adenocarcinoma of Cardioesophageal junction
adenocarcinoma of gastroesophageal junction
gastroesophageal junction adenocarcinoma
A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
adult primary Cholangiocarcinoma
adult primary cholangiocellular carcinoma
cholangiosarcoma
cholangiocarcinoma
A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of the gallbladder
carcinoma gallbladder
carcinoma of gallbladder
gallbladder carcinoma
A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, 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 fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis.
poliomyelitis
A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells.
melanocytic tumor of the CNS
central nervous system primary melanocytic lesion
primary melanocytic Lesions of the CNS
primary melanocytic lesion of meninges
central nervous system melanocytic neoplasm
Meningeal hemangiopericytoma
hemangiopericytoma of meninges
meninges hemangiopericytoma
An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Dystrophic epidermolysis bullosa
epidermolysis bullosa dystrophica
SCH
spindle cell hemangioma
A hematopoietic system disease that is located_in the bone marrow.
bone marrow disorder
bone marrow disease
An anxiety disorder that involves discress but neither delusions nor hallucinations.
Neurotic depression reactive type
Neurotic depressive state
Psychoneurosis
depressive neurosis
neurosis
neurotic depression
reactive depression
neurotic disorder
Nelson's syndrome
Nelson syndrome
An agnosia that results in the loss of the ability to consciously recognize familiar faces.
prosopagnosia
A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
Agnogenic myeloid metaplasia
Aleukemic myelosis
Megakaryocytic myelosclerosis
bone Marrow Fibrosis
myelosclerosis
primary myelofibrosis
myelofibrosis
A myeloid neoplasm that results_in the overproduction of white blood cells.
Myeloproliferative/Myelodysplastic syndromes
myelodysplastic myeloproliferative cancer
myelodysplastic myeloproliferative disease
myelodysplastic/myeloproliferative neoplasm
A lymphedema that is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels resulting in the enlargement and hardening of limbs or body parts due to tissue swelling (edema).
elephantiasis
A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.
Lymphatic edema
Lymphoedema
lymphedema
extraosseous Ewing's tumor
extraosseous Ewing's tumour
extraosseous Ewings sarcoma-primitive neuroepithelial tumour
extraosseous Ewings sarcoma-primitive neuroepithelial tumor
A pancreas disease that is characterized by inflammation of the pancreas.
pancreatitis
A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
benign essential tremor
essential hereditary tremor
shaky hand syndrome
essential tremor
Astrocytic tumor of optic nerve
optic tract astrocytoma
optic nerve astrocytoma
glioma of the optic nerve
optic nerve glioma
An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm.
atypical polypoid adenomyoma
A uterine benign neoplasm that has_material_basis_in gland and muscle components.
adenomyoma of Corpus Uteri
uterine corpus adenomyoma
adenomyoma of uterine corpus
A cervical benign neoplasm that has_material_basis_in gland and muscle components.
cervical adenomyoma
An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones.
Diaphyseal dysplasia
Engelman's disease
progressive diaphyseal dysplasia
Camurati-Engelmann disease
A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
Langer-Giedion syndrome
Trichorhinophalangeal dysplasia type II
trichorhinophalangeal syndrome type 2
trichorhinophalangeal syndrome type II
An endocrine system disease that is located_in the thyroid.
thyroid gland disease
hemangioma of CNS
central nervous system hemangioma
A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
Fibrolamellar hepatocellular carcinoma
Hepatocellular carcinoma, fibrolamellar
Oncocytic Hepatocellular tumor
fibrolamellar carcinoma
Clear cell carcinoma of the Liver cells
Hepatocellular carcinoma, clear cell type
hepatocellular clear cell carcinoma
aflatoxins-related hepatocellular carcinoma
Sclerosing Hepatocellular carcinoma
sclerosing hepatic carcinoma
pineal parenchymal tumour of intermediate differentiation
pineal parenchymal tumor of intermediate differentiation
adult Pineal Parenchymal neoplasm
adult pineal parenchymal tumor
An endocrine gland located_in the pineal gland located in the brain.
Pineocytic tumor
malignant Pineal Region tumor
malignant tumor of pineal gland
neoplasm of pineal gland
neoplasm of the Pineal Region
pineal body neoplasm
tumor of the pineal region
pineal gland cancer
benign granular cell tumor
myoblastoma
granular cell tumor of esophagus
granular cell tumour of oesophagus
malignant granular cell esophageal tumour
malignant granular cell esophageal tumor
A gastrointestinal system cancer that is located_in the esophagus.
Ca lower third oesophagus
Ca middle third oesophagus
esophagus cancer
malignant neoplasm of distal third of esophagus
malignant neoplasm of lower third of oesophagus
malignant neoplasm of middle third of oesophagus
malignant neoplasm of proximal third of esophagus
malignant neoplasm of upper third esophagus
malignant tumor of Distal Third of esophagus
malignant tumor of Proximal Third of esophagus
malignant tumor of abdominal esophagus
malignant tumor of the middle Third of the esophagus
esophageal cancer
granular cell tumor, malignant
malignant granular cell neoplasm
malignant granular cell tumor
malignant granular cell myoblastoma
A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei.
vulvar granular cell tumor
granular cell tumor of Heart
cardiac granular cell neoplasm
granular cell tumor of mediastinum
mediastinal granular cell myoblastoma
A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.
neurohypophysis granular cell tumor
granular cell tumor of the sellar region
A pituitary gland benign neoplasm that arises from the neurohypophysis.
Posterior Pituitary tumor
posterior pituitary gland neoplasm
A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
Nightcliff gardener's disease
Pseudoglanders
Whitmore's disease
acute and fulminating melioidosis
subacute and chronic melioidosis
melioidosis
tumor of adult Cerebellum
adult cerebellar neoplasm
Papillary meningioma of Cerebellum
papillary meningioma of the cerebellum
Papillary meningioma
meningioma, rhabdoid
rhabdoid meningioma
pediatric tumor of Cerebellum
childhood cerebellar neoplasm
Basisquamous cell carcinoma
Metatypical carcinoma
basosquamous cell carcinoma
basosquamous carcinoma
A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
Ependymal neoplasm
ependymal tumors
malignant ependymoma
high grade ependymoma
myxopapillary ependymoma
mixed Neuroglial tumor
mixed gliomas
mixed glioma
SEGA
subependymal giant cell astrocytoma
A cell type benign neoplasm that has_material_basis_in glial-type cells.
CNS ganglioglioma
adult ganglioglioma
childhood ganglioglioma
ganglioglioma
Cirrhosis
cirrhosis of liver
liver cirrhosis
mixed epithelial stromal tumour
A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum.
sternum cancer
An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
Thoracic tumor
thorax cancer
thorax neoplasm
tumor of thorax
thoracic cancer
An ear cancer that is located_in the middle ear.
neoplasm of middle ear
tumor of the middle ear
middle ear cancer
middle ear disease
An ear cancer located_in the inner ear.
inner ear cancer
infarction of testis
testicular infarction
testicular infarct
A dermoid cyst that is located_in the ovary.
Dermoid cyst
Ovarian Dermoid Cyst
dermoid cyst of ovary
A cystic teratoma that is located_in the ovary.
ovarian cystic teratoma
neoplasm of epididymis
epididymal neoplasm
A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum.
leiomyoma of mediastinum
mediastinum leiomyoma
A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells.
fallopian tube leiomyoma
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct.
leiomyoma of the extrahepatic bile duct
extrahepatic bile duct leiomyoma
A central nervous system benign neoplasm that derives_from smooth muscle cells.
leiomyoma of CNS
central nervous system leiomyoma
A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures.
Atypical leiomyoma
Pleomorphic leiomyoma
Symplastic leiomyoma
bizarre leiomyoma
A leiomyoma that is located_in deep soft tissue.
deep leiomyoma
Cutaneous leiomyoma
leiomyoma of the skin
leiomyoma cutis
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.
leiomyoma of anus
anus leiomyoma
A lung benign neoplasm that derives_from some smooth muscle cell.
pulmonary leiomyoma
lung leiomyoma
A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.
leiomyoma of Pericardium
pericardium leiomyoma
A leiomyoma that is multiple and diffuse.
leiomyomatosis
A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.
cellular leiomyoma
A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells.
leiomyoma of the gallbladder
gallbladder leiomyoma
A vulvar benign neoplasm that is located_in smooth muscle cells.
vulvar leiomyoma
An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel.
leiomyoma of large Intestine
large bowel leiomyoma
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix.
Appendiceal leiomyoma
appendix leiomyoma
A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora.
Dartoic myoma
dartoic leiomyoma
epithelioid neurofibroma
Neurofibroma of the gallbladder
neurofibroma of gallbladder
plexiform neurofibroma
cellular neurofibroma
multiple mucosal neuroma
Mesothelioma of Pleura
benign pleural mesothelioma
A connective tissue cancer that located_in the pleura.
Pleural tumor
neoplasm of pleura
pleural cancer
An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.
arteriolosclerosis
An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus.
sarcoma of Corpus Uteri
sarcoma of uterus
uterine corpus sarcoma
An ovary sarcoma that arises from endometrial stromal tissue.
ovarian endometrioid stromal sarcoma
A vagina sarcoma that has_material_basis_in endometrial stroma.
vaginal endometrial stromal sarcoma
A vaginal cancer that has_material_basis_in endometrial stroma.
vaginal endometrial stromal tumor
Nonanaplastic renal Wilm's tumor
Nonanaplastic renal Wilm's tumour
renal Wilms' tumour
nonanaplastic renal wilms tumor
renal Wilms' tumor
metachronous Wilms tumor of the kidney
metachronous kidney Wilms' tumor
mixed cell type kidney Wilms' tumour
mixed cell type renal Wilms tumor
mixed cell type renal Wilms tumour
mixed cell type kidney Wilms' tumor
Scrotal Ca
Scrotal tumor
malignant Scrotal neoplasm
malignant tumor of scrotum
malignant tumour of scrotum
neoplasm of scrotum
scrotum cancer
scrotum neoplasm
Blastema Predominant renal Wilms tumor
Blastema Predominant renal Wilms tumour
blastema predominant kidney Wilms' tumour
blastema predominant kidney adenosarcoma
blastema predominant kidney Wilms' tumor
A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
Hereditary Wilms tumor
Hereditary Wilms tumour
WT1
hereditary Wilms' tumour
hereditary Wilms' tumor
epithelial Predominant renal Wilms tumor
epithelial Predominant renal Wilms tumour
epithelial predominant Wilms' tumour
epithelial predominant kidney adenosarcoma
epithelial predominant Wilms' tumor
aortitis
A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney.
cervical Wilms tumor
cervical Wilms' tumor
Stromal Predominant renal Wilms tumor
Stromal Predominant renal Wilms tumour
stromal predominant kidney Wilms' tumour
stromal predominant kidney Wilms' tumor
nodular ganglioneuroblastoma
intermixed schwannian stroma-rich ganglioneuroblastoma
PNS Ganglioneuroblastoma
peripheral nervous system ganglioneuroblastoma
A fallopian tube benign neoplasm that derives_from mesothelium.
fallopian tube adenomatoid tumor
An artery disease that is characterized by degeneration of the cells composing the aortic wall.
aortic disorder
disorder of the aorta
aortic disease
Obstructive Uropathy
urinary obstruction
urinary tract obstruction
A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
fructose 1 phosphate aldolase deficiency
fructose-1,6-diphosphatase deficiency
fructose-1,6-bisphosphatase deficiency
An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).
Ovarian Monodermal teratoma
monodermal teratoma
A struma ovarii that is cancerous.
Struma ovarii, malignant
malignant struma ovarii
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
carbohydrate-deficient glycoprotein syndrome
congenital disorder of glycosylation
An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.
chronic inflammatory demyelinating polyradiculoneuropathy
peripheral demyelinating neuropathy
demyelinating polyneuropathy
chronic polyneuropathy
acute necrotizing encephalitis
infertility
acute hemorrhagic encephalitis
Encephalitis lethargica
von Economo disease
von Economo's disease
hepatoerythropoietic porphyria
malignant Glomus neoplasm
glomangiosarcoma
subungual glomus tumour
subungual glomus tumor
benign perivascular tumor
Capillary hemangioma of retina
retinal hemangioblastoma
Capillary Hemangioblastoma
hemangioblastoma
A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.
central nervous system vasculitis
A leiomyosarcoma that is characterized by a prominent intristic inflammatory component.
inflammatory leiomyosarcoma
A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.
conventional leiomyosarcoma
A leiomyosarcoma that is located_in the central nervous system.
leiomyosarcoma of the CNS
central nervous system leiomyosarcoma
A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm.
granular cell leiomyosarcoma
A leiomyosarcoma and sarcoma of colon that is located_in the colon.
Colonic leiomyosarcoma
colon leiomyosarcoma
A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
HIV infection
human immunodeficiency virus infectious disease
A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.
Colonic sarcoma
colon sarcoma
leiomyosarcoma of Heart
heart leiomyosarcoma
A sarcoma and malignant neoplasm of heart that is located_in the heart.
cardiac sarcoma
sarcoma of Heart
heart sarcoma
An ovary sarcoma that arises from smooth muscle progenitors.
leiomyosarcoma of Ovary
ovary leiomyosarcoma
A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm.
epithelioid leiomyosarcoma
A leiomyosarcoma and sarcoma of lung that is located_in the lung.
pulmonary leiomyosarcoma
lung leiomyosarcoma
A leiomyosarcoma and sarcoma of the anus that is located_in the anus.
leiomyosarcoma of anus
anus leiomyosarcoma
A leiomyosarcoma that is characterized by abundant myxoid stroma.
myxoid leiomyosarcoma
A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.
leiomyosarcoma of the small Bowel
smooth muscle connective tissue tumor
small intestine leiomyosarcoma
A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
sarcoma of the Small Intestine
small intestinal sarcoma
leiomyosarcoma of the skin
cutaneous leiomyosarcoma
malignant dermis tumour
malignant neoplasm of Dermis
malignant tumor of dermis
malignant tumour of dermis
malignant dermis tumor
A gallbladder sarcoma that is located_in the soft tissues of the gallbladder.
leiomyosarcoma of the gallbladder
gallbladder leiomyosarcoma
leiomyosarcoma of esophagus
leiomyosarcoma of oesophagus
oesophagus leiomyosarcoma
esophagus leiomyosarcoma
gastric leiomyosarcoma
A prostate sarcoma that is located_in the prostate.
leiomyosarcoma of the prostate
prostate leiomyosarcoma
A vagina sarcoma that has_material_basis_in smooth muscle.
leiomyosarcoma of the vagina
vagina leiomyosarcoma
retroperitoneal leiomyosarcoma
A breast sarcoma that arises from smooth muscle cells.
leiomyosarcoma of the breast
breast leiomyosarcoma
A vulvar sarcoma that has_material_basis_in smooth muscle cells.
vulvar leiomyosarcoma
A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
leiomyosarcoma of kidney
kidney leiomyosarcoma
A leiomyosarcoma located_in the larynx.
leiomyosarcoma of Larynx
larynx leiomyosarcoma
A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus.
leiomyosarcoma of Corpus Uteri
uterus leiomyosarcoma
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
blepharospasm
A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.
leiomyosarcoma of mediastinum
mediastinum leiomyosarcoma
A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.
leiomyosarcoma of the bile duct
extrahepatic bile duct leiomyosarcoma
A gastrointestinal system disease that is located_in the intestine.
intestinal disease
A leiomyosarcoma and sarcoma of liver that is located_in the liver.
leiomyosarcoma of the Liver
liver leiomyosarcoma
A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.
leiomyosarcoma of rectum
rectum leiomyosarcoma
An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
Clear cell carcinoma of Endometrium
endometrial clear cell adenocarcinoma
An adnexa disease that is located_in the eyelid.
eyelid disease
A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell carcinoma of the fallopian tube
fallopian tube clear cell adenocarcinoma
A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
uterine ligament clear cell adenocarcinoma
A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell carcinoma of the Cervix Uteri
cervical clear cell adenocarcinoma
A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
ovarian clear cell adenocarcinoma
A clear cell adenocarcinoma that is located_in the bladder.
bladder Mesonephric adenocarcinoma
clear cell adenocarcinoma of bladder
bladder clear cell adenocarcinoma
A clear cell adenocarcinoma that is located_in the urethra.
Clear cell adenocarcinoma of the urethra
urethra clear cell adenocarcinoma
ampulla of Vater clear cell adenocarcinoma
epithelial-myoepithelial carcinoma
A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen.
glycogen-rich carcinoma of breast
glycogen-rich clear cell breast carcinoma
An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva.
vulvar alveolar soft part sarcoma
A fallopian tube cancer that derives_from germ cells.
fallopian tube germ cell neoplasm
fallopian tube germ cell cancer
A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1.
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
RBS
Roberts-Sc Phocomelia Syndrome
SC phocomelia syndrome
Roberts syndrome
retinal detachment
disease of thymus gland
thymus gland disease
A tooth disease located_in dental pulp.
Dental pulp disorder
disorder of pulp of tooth
pulp disorder
dental pulp disease
Granulosa cell tumor of testis
Granulosa cell tumour of testis
testicular granulosa cell tumour
testicular granulosa cell tumor
paraphimosis
Gingival polyp
epulides
polyp of Gum
epulis
Cyclic neutropenia
Cyclical neutropenia
Neutropenia, periodic
cyclic agranulocytosis
cyclic hematopoiesis
Pineal Region Yolk Sac neoplasm
pineal region yolk sac tumor
An endodermal sinus tumor that occurs in children.
childhood endodermal sinus neoplasm
childhood endodermal sinus tumour
paediatric Yolk Sac tumour
pediatric Yolk Sac tumor
childhood endodermal sinus tumor
Yolk Sac tumor of the CNS
Yolk Sac tumour of the CNS
central nervous system endodermal sinus tumour
childhood central nervous system endodermal sinus neoplasm
paediatric central nervous system Yolk Sac tumour
pediatric central nervous system Yolk Sac tumor
central nervous system endodermal sinus tumor
testicular Yolk Sac neoplasm
testicular yolk sac tumor
A testicular malignant germ cell cancer that is characterized by the absence of a seminomatous component.
Testicular Non-Seminomatous Germ Cell Tumor
malignant Non-Seminomatous germ cell tumor of testis
testicular non-seminomatous germ cell cancer
An endodermal sinus tumor that occurs in adults.
adult Yolk Sac neoplasm
adult endodermal sinus neoplasm
adult endodermal sinus tumor
central nervous system adult germ cell tumour
germ cell tumor of the adult CNS
germ cell tumour of the adult CNS
central nervous system adult germ cell tumor
An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo.
Endodermal sinus tumor of ovary
Endodermal sinus tumour of ovary
Ovarian Yolk Sac tumor
Ovarian Yolk Sac tumour
ovarian endodermal sinus tumour
ovarian endodermal sinus tumor
A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells.
ovarian primitive germ cell tumor
A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
Heck disease
Heck's disease
Multifocal epithelial hyperplasia
focal epithelial hyperplasia
A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.
Myxoid/round cell liposarcoma
mixed-type liposarcoma
myxoid liposarcoma
A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts.
cervical mesonephric adenocarcinoma
Wolffian duct adenocarcinoma
A hemangiopericytoma that is manifested in the breast.
hemangiopericytoma of the breast
breast hemangiopericytoma
retroperitoneal hemangiopericytoma
Pilomatricoma
benign pilomatricoma
pilomatrixoma
Hair Matrix neoplasm
Hair matrix tumour
hair follicle neoplasm
Pilomatricoma, malignant
malignant Pilomatricoma
pilomatrix carcinoma of skin
skin pilomatrix carcinoma
Hb-D disease
hemoglobin D disease
Hb-E disease
hemoglobin E disease
A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
Cholangioadenoma
bile duct adenoma
A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue.
Bartholin gland adenoma
Bartholin's gland adenoma
A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells.
Cystadenoma of the bile duct
bile duct cystadenoma
An adenoma that has_material_basis_in more than one cell type.
mixed cell adenoma
A lung benign neoplasm that derives_from glandular epithelial cells.
adenoma of lung
pulmonary adenoma
lung adenoma
A sensory organ benign neoplasm that is located_in the middle ear.
adenoma of the middle ear
adenoma of middle ear
middle ear adenoma
Follicular adenoma, oxyphilic cell
Oncocytoma
oxyphilic adenoma
Total ophthalmoplegia
extraocular muscle paralysis
eye movement paralysis
oculomotor paralysis
ophthalmoplegia
An adenoma that is composed_of cells with a clear cytoplasm located_in ovary.
clear cell adenoma
Bronchial adenoma
adenoma of the bronchus
bronchus adenoma
Eosinophil adenoma
acidophil adenoma
brain angioma
PITUITARY ADENOMA, PROLACTIN-SECRETING
Prolactinoma of Pituitary gland
familial prolactinoma
prolactinoma
Secretory adenoma of the Pituitary gland
functioning pituitary adenoma
A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin.
Prolactin Secreting tumor of Pituitary
Prolactin Secreting tumour of Pituitary
Prolactin-Producing Pituitary Gland Carcinoma
malignant Prolactinoma
malignant prolactin producing neoplasm of pituitary gland
prolactin producing pituitary tumour
prolactin producing pituitary tumor
An adenoma that is composed_of epithelial cells admixed with adipose tissue cells.
lipoadenoma
An adenoma that derives_from epithelial cells which have clear cytoplasm.
water-clear cell adenoma
A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin.
vaginal adenoma
A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.
microcystic adenoma
A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Paget disease of bone
Paget's bone disease
osseous Paget's disease
osteitis deformans
Familial Paget's disease of bone
Xref MGI. MESH:C538098 added from NeuroDevNet [WAK].
Paget's disease of bone
A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.
lung small cell carcinoma
pulmonary neuroendocrine tumor
oat cell carcinoma
lung oat cell carcinoma
Occult small cell carcinoma of the lung
occult small cell carcinoma of lung
lung occult small cell carcinoma
A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
schizoaffective disorder
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
schizophrenia-1
schizophrenia
A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells.
Combined small cell carcinoma of the lung
combined type small cell carcinoma of lung
lung combined type small cell carcinoma
An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
hypergonadotropic hypogonadism
premature ovarian failure
premature ovarian insufficiency
primary ovarian insufficiency
villous adenoma of urinary bladder
urinary bladder villous adenoma
Flat Intraepithelial Lesion of the urinary bladder
bladder flat intraepithelial lesion
A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
dystonic disease
dystonia
urinary bladder Papillary Urothelial neoplasm
bladder papillary transitional cell neoplasm
Inverted papilloma of urinary tract
Papillary transitional cell neoplasm of the urinary tract
urinary tract inverted papilloma
urinary tract papillary transitional cell benign neoplasm
A bile duct adenoma located_in an intrahepatic bile duct.
adenoma of the Intrahepatic bile duct
adenoma of intrahepatic bile duct
intrahepatic bile duct adenoma
A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.
adenoma of the extrahepatic bile duct
adenoma of extrahepatic bile duct
extrahepatic bile duct adenoma
papillary hidradenoma
Eccrine hidradenoma
Eccrine hidradenoma of skin
Poroma
eccrine acrospiroma
Clear cell myoepithelioma
clear cell hidradenoma
Eccrine spiradenoma
Eccrine spiradenoma of skin
benign eccrine spiradenoma
spiradenoma
papillary syringadenoma
syringocystadenoma papilliferum
A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time.
Eccrine papillary adenoma of skin
papillary eccrine adenoma
eccrine papillary adenoma
A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
pulmonary veno-occlusive disease
OMIM has split this term into two subtypes.
pulmonary venoocclusive disease
laryngeal neuroendocrine tumour
neuroendocrine tumor of Larynx
neuroendocrine tumour of Larynx
laryngeal neuroendocrine tumor
A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium.
Intraepithelial Neoplasia of Conjunctiva
conjunctival intraepithelial neoplasm
Conjunctival tumor
malignant Conjunctival tumor
malignant neoplasm of conjunctiva
malignant tumor of conjunctiva
neoplasm of conjunctiva
conjunctival cancer
A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
bile duct papillomatosis
biliary papillomatosis
biliary tract intraductal papillary mucinous neoplasm
An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid.
ovarian serous adenofibroma
An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
adenofibroma of Corpus Uteri
adenofibroma of uterine corpus
uterine corpus adenofibroma
A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
cervical adenofibroma
An adenofibroma that is characterized by the presence of cells with clear cytoplasm.
clear cell adenofibroma
A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
fallopian tube adenofibroma
An adenofibroma that is characterized by finger-like projections on histology.
papillary adenofibroma
An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue.
ovarian endometrioid adenofibroma
An ovarian benign neoplasm that is composed_of epithelial ovarian tissue.
cystadenofibroma
fibrous sarcoma of Synovium
fibrous synovial sarcoma
A synovium cancer which develops in the synovial membrane of the joints.
synovial sarcoma
Synovial sarcoma with spindle cell Components
Synovial sarcoma, monophasic fibrous
spindle cell synovial sarcoma
A synovial sarcoma that is located_in the mediastinum.
Synovial sarcoma of mediastinum
mediastinum synovial sarcoma
Biphasic sarcoma of Synovium
Synovial sarcoma, biphasic
biphasic synovial sarcoma
Synovial sarcoma, epithelioid cell
epithelioid Synovial sarcoma
epithelioid cell synovial sarcoma
Monophasic sarcoma of Synovium
monophasic synovial sarcoma
cellular ependymoma
A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
Infestation by Pediculus
Louse infestation
Pediculosis + lice
Pediculosis and phthirus infections
Pediculosis and phthirus infestation
mixed pediculosis
mixed pediculosis infestation
pediculosis
pediculosis and phthirus infection
lice infestation
A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal.
Ependymal neoplasm of the Spinal Cord
Spinal ependymoma
spinal cord ependymoma
tanycytic ependymoma
papillary ependymoma
A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
Ependymoma of the Brainstem
brain stem ependymoma
childhood ependymoma
pineal dysgerminoma
A dysgerminoma that is located_in the ovary.
Ovarian Dysgerminoma
dysgerminoma of ovary
A breast metaplastic carcinoma that arises from squamous epithelial cells.
SCC of breast
breast primary squamous cell carcinoma
primary squamous cell carcinoma of the breast
primary squamous cell carcinoma of breast
squamous cell carcinoma of breast
breast squamous cell carcinoma
A nasal cavity carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of the nasal cavity
squamous cell carcinoma of nasal cavity
nasal cavity squamous cell carcinoma
A squamous cell carcinoma that is located_in the stomach.
squamous cell carcinoma of stomach
gastric squamous cell carcinoma
A stomach cancer that is located_in the stomach.
cancer of the stomach
carcinoma of stomach
gastric carcinoma
stomach carcinoma
A penis carcinoma that has_material_basis_in squamous cells.
Epidermoid cell carcinoma of penis
squamous cell carcinoma of penis
penis squamous cell carcinoma
A squamous cell carcinoma that is located_in the colon.
Colonic Epidermoid carcinoma
squamous cell carcinoma of colon
colon squamous cell carcinoma
A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
acute pneumonia
pneumonia
A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.
carcinoma of the head and neck
squamous cell carcinoma of the head and neck
squamous cell carcinomas of head and neck
head and neck squamous cell carcinoma
A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.
keratinizing epidermoid carcinoma
squamous cell carcinoma, keratinizing
keratinizing squamous cell carcinoma
A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
Basaloid carcinoma
basaloid squamous cell carcinoma
A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis.
Acantholytic squamous cell carcinoma
Pseudoglandular squamous carcinoma
adenoacanthoma
adenocarcinoma with squamous metaplasia
adenoid squamous cell carcinoma
An anal carcinoma that arises near the squamocolumnar junction.
Epidermoid anal carcinoma
anal squamous cell carcinoma
A middle ear carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the middle ear
squamous cell carcinoma of middle ear
middle ear squamous cell carcinoma
An ampulla of Vater carcinoma that derives_from epithelial squamous cells.
ampulla of Vater squamous cell carcinoma
A squamous cell carcinoma that is located_in the rectum.
squamous carcinoma of rectum
squamous cell carcinoma of the rectum
rectum squamous cell carcinoma
A squamous cell carcinoma that is located_in the lacrimal gland.
Epidermoid carcinoma of the lacrimal gland
squamous cell carcinoma of lacrimal gland
lacrimal gland squamous cell carcinoma
A squamous cell carcinoma that is located_in the thymus.
Epidermoid Thymic carcinoma
thymus squamous cell carcinoma
An ovarian carcinoma that derives_from squamous epithelial cells.
ovarian squamous cell neoplasm
squamous cell carcinoma of ovary
ovarian squamous cell carcinoma
An ovary epithelial cancer that has_material_basis_in squamous cells.
Retired NCI concept.
obsolete ovarian squamous cell neoplasm
An endometrial carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of Endometrium
endometrial squamous cell carcinoma
A squamous cell carcinoma that is located_in the renal pelvis.
Epidermoid carcinoma of the kidney Pelvis
squamous cell carcinoma of renal pelvis
renal pelvis squamous cell carcinoma
A squamous cell carcinoma that is located_in the gallbladder.
Epidermoid gallbladder carcinoma
squamous cell carcinoma of the gallbladder
gallbladder squamous cell carcinoma
spindle cell (sarcomatoid) squamous cell carcinoma
spindle cell (sarcomatoid) squamous cell skin carcinoma
spindle cell squamous carcinoma of skin
spindle cell squamous cell carcinoma
squamous cell carcinoma, sarcomatoid
sarcomatoid squamous cell skin carcinoma
A squamous cell carcinoma that is located_in the bile duct.
bile duct squamous cell carcinoma
squamous cell bile duct carcinoma
A squamous cell carcinoma that is located_in the external ear.
Epidermoid carcinoma of the External ear
squamous cell carcinoma of external ear
external ear squamous cell carcinoma
A squamous cell carcinoma that is located_in the ureter.
ureteral Epidermoid carcinoma
ureter squamous cell carcinoma
A fallopian tube carcinoma that derives_from squamous epithelial cells.
squamous cell carcinoma of the fallopian tube
fallopian tube squamous cell carcinoma
anal neuroendocrine tumour
neuroendocrine tumor of anus
neuroendocrine tumour of anus
anal neuroendocrine tumor
A choriocarcinoma that is located_in the pulmonary artery.
Syncytioma of pulmonary artery
pulmonary artery choriocarcinoma
A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells.
Ovarian Choriocarcinoma
choriocarcinoma of ovary
A choriocarcinoma that is located_in the testis.
testicular Choriocarcinoma
choriocarcinoma of the testis
Pineal Choriocarcinoma
pineal region choriocarcinoma
malignant germ cell tumor of testis
testicular malignant germ cell cancer
A testicular cancer that has_material_basis_in germ cells.
germ cell tumor of testis
testicular germ cell neoplasm
testicular germ cell cancer
A thoracic cancer that is located_in the mediastinum.
Tumour of mediastinum
mediastinal tumor
mediastinum cancer
neoplasm of mediastinum
mediastinal cancer
mediastinal mesenchymal tumour
soft tissue tumor of mediastinum
soft tissue tumour of mediastinum
mediastinal mesenchymal tumor
A teratoma that is located_in the stomach or other gastric tissue.
teratoma of stomach
gastric teratoma
A teratoma that is cancerous.
Immature teratoma
Teratoma, malignant, NOS
malignant Extragonadal teratoma
primary malignant extragonadal teratoma
malignant teratoma
A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
fallopian tube teratoma
A benign teratoma that is present in an adult.
adult teratoma
A teratoma that is composed exclusively of mature tissues derived from two or three germ layers.
mature teratoma
germ cell teratoma of Ovary
ovarian germ cell teratoma
A teratoma that is located_in the mediastinum.
teratoma of mediastinum
mediastinum teratoma
A urinary system disease that is located_in the kidney.
impaired renal function disease
nephropathy
kidney disease
Eccrine ductal carcinoma
Eccrine ductal carcinoma of skin
anaplastic syringoma
malignant acrospiroma
A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Beckwith-Wiedemann syndrome
VIP- Secreting tumor
Vasoactive intestinal peptide-secreting tumor
Vipoma, malignant
malignant vasoactive intestinal peptide-secreting tumor
VIPoma
male Orgasmic disorder
inhibited male orgasm
A neuroendocrine tumor that results_in an overproduction of gastric acid.
Gastrin Secreting tumor
Gastrin cell tumour
malignant gastrinoma
gastrinoma
gastric G-cell gastrin producing tumor
gastric gastrinoma
pancreatic G-cell tumor
pancreatic gastrinoma
A lung carcinoma that is located_in large undifferentiated cells.
Giant cell carcinoma
Giant cell lung carcinoma
lung giant cell carcinoma
Multiple self-healing epithelioma of Ferguson-Smith
Ferguson-Smith tumor
A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles.
Volkmann's ischemic contracture
Volkmann contracture
A papillary adenocarcinoma that is located_in the lung.
Papillary adenocarcinoma of the lung
lung papillary adenocarcinoma
acute pyelonephritis
A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.
Papillary carcinoma of the breast
breast solid papillary carcinoma
papillary carcinoma of breast
solid papillary carcinoma of the breast
breast papillary carcinoma
A papillary adenocarcinoma that is located_in the stomach.
Papillary adenocarcinoma of stomach
gastric papillary adenocarcinoma
Papillary carcinoma of the Thymus
papillary thymic adenocarcinoma
A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern.
Papillary adenocarcinoma of the fallopian tube
fallopian tube papillary adenocarcinoma
A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
fallopian tube serous adenocarcinoma
An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells.
Acute Adult T-cell Leukemia-Lymphoma
adult Precursor T Lymphoblastic Leukemia
T-cell adult acute lymphocytic leukemia
An acute lymphocytic leukemia occurring during adulthood.
adult ALL
adult acute lymphoid Leukemia
adult acute lymphocytic leukemia
A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology.
Medullary breast carcinoma with lymphoid Stroma
medullary carcinoma of breast
breast medullary carcinoma
A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
Intraspinal tumor
malignant tumor of the Spinal Cord
spinal cord neoplasm
tumor of the Spinal Cord
spinal neoplasm
spinal cancer
An eye and adnexa disease that is located_in the eye.
eye disease
Intradural Extramedullary Spinal tumors
spinal canal intradural extramedullary neoplasm
Oculomotor nerve disorder
disorder of oculomotor nerve
third cranial nerve disease
A sarcoma and hematologic cancer that derives_from follicular lymphoma.
histiocytic and dendritic cell
histiocytic and dendritic cell cancer
A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma.
adenosquamous breast carcinoma
A bile duct carcinoma that derives_from squamous cells and gland-like cells.
bile duct Adenosquamous carcinoma
adenosquamous bile duct carcinoma
An esophageal carcinoma that derives_from squamous cells and gland-like cells.
esophageal adenosquamous carcinoma
A thymic carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the Thymus
thymus adenosquamous carcinoma
A gallbladder carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the gallbladder
adenosquamous carcinoma of gallbladder
adenosquamous gallbladder carcinoma
An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells.
ampulla of Vater adenosquamous carcinoma
A colon carcinoma that derives_from squamous cells and gland-like cells.
Colonic Adenosquamous carcinoma
adenosquamous carcinoma of colon
adenosquamous colon carcinoma
A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells.
Bartholin gland adenosquamous carcinoma
Bartholin's gland adenosquamous carcinoma
meningioma of optic nerve sheath
optic nerve sheath meningioma
A prostate carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the prostate
adenosquamous carcinoma of prostate
adenosquamous prostate carcinoma
Adenosquamous carcinoma of stomach
gastric adenosquamous carcinoma
A cervical carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of cervix
Adenosquamous cell carcinoma of the Cervix Uteri
cervical adenosquamous carcinoma
A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of pancreas
adenosquamous carcinoma of the pancreas
pancreatic adenosquamous carcinoma
malignant Giant cell neoplasm of soft Parts
malignant giant cell tumor of soft parts
rete testis neoplasm
A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
diffuse pulmonary fibrosis
A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
localized pulmonary fibrosis
urethral villous adenoma
A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
choroid plexus carcinoma
A neuropathy that is located_in one of the twelve cranial nerves.
Cranial nerve disorder
disorder of cranial nerve
cranial nerve disease
A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.
lipid-rich carcinoma
A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells.
Nasopharyngeal type Undifferentiated carcinoma
lymphoepithelial carcinoma
lymphoepithelioma-like carcinoma
A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma.
pleomorphic carcinoma
An ear cancer that is located_in the external ear.
malignant neoplasm of the External ear
malignant tumor of external ear
external ear cancer
carcinoma of the Sweat gland
sweat gland carcinoma
A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.
Comedocarcinoma
comedo carcinoma
An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
large intestine cancer
A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.
ductal carcinoma, cribriform type
cribriform carcinoma
An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen.
primary malignant Extragonadal Nonseminoma
malignant extragonadal nonseminomatous germ cell tumor
An eye disease that is located_in the retina.
retinal disease
An embryonal carcinoma that is located_in the testis.
Embryonal carcinoma of testis
testicular embryonal carcinoma
embryonal carcinoma of the testis
embryonal testis carcinoma
An embryonal carcinoma that is located_in the ovary.
Embryonal carcinoma of ovary
Embryonal carcinoma of the Ovary
ovarian embryonal carcinoma
A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
Breast and Ovarian Cancer syndrome
HBOC syndrome
Hereditary Breast and Ovarian Cancer syndrome
Hereditary breast and ovarian cancer
hereditary breast ovarian cancer syndrome
A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Spondylar and nasal Alterations-Striated Metaphyses syndrome
sponastrime dysplasia
spondyloepimetaphyseal dysplasia, Sponastrime type
A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
Werner's syndrome
adult premature ageing syndrome
adult progeria
Werner syndrome
A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes.
atypical lipomatous tumor
well-differentiated liposarcoma
visual cortex dysfunction
visual cortex disease
A liposarcoma characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.
round cell liposarcoma
cellular myxoid liposarcoma
adult liposarcoma
Liposarcoma of esophagus
Liposarcoma of oesophagus
oesophagus liposarcoma
esophagus liposarcoma
pediatric liposarcoma
childhood liposarcoma
A liposarcoma that is located_in the larynx.
Liposarcoma of Larynx
larynx liposarcoma
An ovary sarcoma that arises from fatty tissue.
Liposarcoma of Ovary
liposarcoma of the ovary
fibroblastic liposarcoma
A liposarcoma that is located_in the kidney.
Liposarcoma of kidney
kidney liposarcoma
An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
Rheumatic aortic insufficiency
Rheumatic aortic regurgitation
Rheumatic aortic valve regurgitation
aortic incompetence
aortic insufficiency
aortic regurgitation
rheumatic aortic valve insufficiency
Corrigan's disease
aortic valve insufficiency
Liposarcoma of the stomach
gastric liposarcoma
A breast sarcoma that arises from fat cells.
Liposarcoma of the breast
breast liposarcoma
pleomorphic liposarcoma
A liposarcoma characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.
mixed liposarcoma
sclerosing liposarcoma
spindle cell liposarcoma
obsolete mixed-type liposarcoma
A vulvar sarcoma that has_material_basis_in adipocytes.
vulvar liposarcoma
Liposarcoma of the skin
cutaneous liposarcoma
A liposarcoma that is located_in the mediastinum.
Liposarcoma of mediastinum
mediastinum liposarcoma
intracranial liposarcoma
Non-Functioning neoplasm of the Pituitary
Non-Secretory adenoma of the Pituitary gland
functionless pituitary adenoma
An adrenal gland cancer that derives_from immature neuroblastic cells.
neuroblastoma of Adrenal gland
adrenal neuroblastoma
An adrenal gland cancer that is located_in the adrenal medulla.
adrenal medulla neoplasm
adrenal medulla tumor
malignant neoplasm of adrenal medulla
malignant tumor of the Adrenal Medulla
adrenal medulla cancer
An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
atrophy of optic disc
optic atrophy
A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle.
seminal vesicle cystadenoma
A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces.
rete ovarii cystadenoma
A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections.
uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease
A uterine cancer that is located_in the ligaments that support the uterus.
tumor of the uterine Ligament
uterine ligament cancer
A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle.
leiomyomatosis peritonealis disseminata
diffuse peritoneal leiomyomatosis
A leiomyomatosis that is located within the blood vessels.
intravenous leiomyomatosis
Compression neuropathy
entrapment neuropathy
peripheral nerve entrapment syndrome
nerve compression syndrome
A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation.
salpingitis isthmica nodosa
chronic salpingitis
Pyosalpingitis
pyosalpinx
A fallopian tube disease that is characterized by inflammation of the fallopian tube.
salpingitis
A nervous system disease that affects the peripheral nervous system.
peripheral nerve disease
peripheral neuropathy
peripheral nervous system disease
small intestinal VIP Producing tumor
small intestinal VIP Producing tumour
small intestinal vasoactive intestinal peptide producing tumour
small intestinal vasoactive intestinal peptide producing tumor
pancreatic VIP Producing tumor
pancreatic VIP Producing tumour
pancreatic vasoactive intestinal peptide producing tumour
pancreatic vasoactive intestinal peptide producing tumor
A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
pancreatic acinar cell carcinoma
pancreatic acinar cell adenocarcinoma
A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation.
acinic cell breast carcinoma
An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).
malignant ovarian serous tumor
serous carcinoma of Ovary
ovary serous adenocarcinoma
An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
serous cystadenoma
ovarian serous cystadenocarcinoma
A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
uterine ligament serous adenocarcinoma
pulmonary valve disorder
pulmonary valve disease
A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.
uterine corpus serous adenocarcinoma
uterine papillary serous carcinoma
uterine serous carcinoma
endometrial serous adenocarcinoma
A serous cystadenocarcinoma that is located_in the pancreas.
serous cystadenocarcinoma of pancreas
pancreatic serous cystadenocarcinoma
A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
cervical serous adenocarcinoma
A cervicitis that is located_in the endocervix.
endocervicitis
Mesenchymoma, malignant
malignant mesenchymoma
Sebaceous neoplasm
sebaceous gland neoplasm
A kidney disease that is characterized by the presence of excess proteins in the urine.
proteinuria
A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma.
sebaceous breast carcinoma
A vulva carcinoma that is characterized by the presence of sebaceous secretions.
vulvar sebaceous carcinoma
lung clear cell-sugar-tumor
lung primary meningioma
primary pulmonary meningioma
pulmonary meningioma
lung meningioma
Pneumocytoma
pulmonary sclerosing hemangioma
lung Hilum tumor
neoplasm of hilus of lung
hilar lung neoplasm
An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
AFD
Nager syndrome
acrofacial dysostosis 1, Nager type
preaxial acrofacial dysostosis
preaxial manibulofacial dysostosis
Nager acrofacial dysostosis
Cutaneous Verruciform Xanthoma
Verruciform xanthoma
verruciform xanthoma of skin
A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
CNS hematopoietic tumor
hematopoietic neoplasm of central nervous system
central nervous system hematologic cancer
A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.
Oral cavity Submucous Fibrosis
Oral submucosal fibrosis
Oral submucosal fibrosis, including of tongue
oral submucous fibrosis
giant hemangioma
Colonic Cavernous hemangioma
cavernous hemangioma of colon
cavernous hemangioma of face
neuroendocrine tumor of rectum
rectum neuroendocrine neoplasm
esophageal neuroendocrine tumour
neuroendocrine tumor of esophagus
neuroendocrine tumour of oesophagus
esophageal neuroendocrine tumor
mixed epithelial and mesenchymal hepatoblastoma
mixed hepatoblastoma
macrotrabecular hepatoblastoma
A nephrolithiasis that is characterized by stones composed predominantly uric acid.
acute urate nephropathy
uric acid nephrolithiasis
An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.
subvalvular aortic stenosis
childhood parosteal osteogenic sarcoma
A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
ADA
adenosine deaminase deficiency
A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
BLSII
SCID due to absent class II HLA antigens
bare lymphocyte syndrome type II
MHC class II deficiency
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
PNP deficiency
Purine-Nucleoside Phosphorylase deficiency
deficiency of inosine phosphorylase
purine nucleoside phosphorylase deficiency
A cerebrum cancer that affects the lymph cells and derives_from the brain.
brain primary lymphoma
primary Lymphoma of Cerebrum
primary cerebral lymphoma
cerebral lymphoma
hemoglobinuria
A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
composite lymphoma
A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
gray zone lymphoma
pediatric lymphoma
childhood lymphoma
adult lymphoma
An ovary adenocarcinoma that has_material_basis_in endometrial tissue.
Ovarian endometrioid carcinoma
endometrioid carcinoma ovary
endometrioid carcinoma of ovary
endometrioid ovary carcinoma
A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
uterine ligament endometrioid adenocarcinoma
A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
ANEMIA HEMOLYTIC
OMIM mapping by NeuroDevNet, 2024 revised to subtypes. [LS].
hemolytic anemia
A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
endometrioid carcinoma of the Cervix Uteri
cervical endometrioid adenocarcinoma
A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
endometrioid carcinoma of the fallopian tube
fallopian tube endometrioid cancer
fallopian tube endometrioid neoplasm
fallopian tube endometrioid adenocarcinoma
spermatocytic seminoma
spermatocytoma
primary extragonadal seminoma
extragonadal seminoma
Seminoma of testis
Seminoma testis
testicular Seminoma Pure
testis seminoma
posteroinferior myocardial infarction
A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Myocardial infarct
heart attack
myocardial infarction
apical myocardial infarction
subendocardial myocardial infarction
posterolateral myocardial infarction
inferolateral myocardial infarct
silent myocardial infarction
localized chondrosarcoma
juxtacortical chondrosarcoma
clear cell chondrosarcoma
A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.
Pneumonia, eosinophilic
eosinophilic pneumonia
germ cell tumor of Retroperitoneum
retroperitoneal germ cell neoplasm
A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum.
malignant neoplasm of retroperitoneum and peritoneum
malignant tumor of peritoneum and retroperitoneum
neoplasm of retroperitoneum
neoplasm of the retroperitoneum
retroperitoneal neoplasm
tumor of retroperitoneum
malignant neoplasm of retroperitoneum
malignant retroperitoneal cancer
retroperitoneal cancer
Apocrine tumor
apocrine sweat gland neoplasm
malignant Endocardial tumor
malignant neoplasm of endocardium
malignant tumor of endocardium
endocardium cancer
Well-differentiated Papillary tumor of Mesothelium
benign intermediate mesothelioma
congenital hemolytic anaemia
hereditary hemolytic anaemia
hereditary hemolytic anemia
congenital hemolytic anemia
malignant adult ependymoma
childhood malignant mesenchymoma
adult malignant mesenchymoma
A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm.
clear cell cystadenofibroma
An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
ovarian clear cell cystadenofibroma
An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian clear cell adenofibroma
A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
Leptomeningeal melanocytoma
melanocytoma of meninges
meningeal melanocytoma
Non-Invasive Penile verrucous carcinoma
penis non-invasive verrucous carcinoma
verrucous squamous carcinoma of penis
penis verrucous carcinoma
An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
phobic disorder
tumor of the Brachial Plexus
brachial plexus neoplasm
A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.
Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma
Diffuse sclerosing papillary thyroid cancer (DSPTC)
Nonencapsulated Sclerosing neoplasm
Papillary carcinoma, diffuse sclerosing
diffuse sclerosing PTC
nonencapsulated sclerosing carcinoma
diffuse sclerosing papillary thyroid carcinoma
An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells.
uterine corpus leiomyomatosis
adult brain stem mixed glioma
adult brainstem mixed glioma
adult brainstem astrocytoma
carcinoma of the Distal biliary tract
distal biliary tract carcinoma
Oat cell extrahepatic bile duct carcinoma
extrahepatic bile duct small cell adenocarcinoma
A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
Fear of open spaces
agoraphobia
An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components.
mixed germ cell tumor of Ovary
ovarian mixed germ cell neoplasm
An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
panic anxiety syndrome
panic disorder
malignant neoplasm of the peripheral nerve Sheath
malignant peripheral nerve sheath tumor
angiokeratoma of mibelli
angiokeratoma circumscriptum
bladder urachal squamous cell carcinoma
urachal cancer
bladder urachal carcinoma
A papillary carcinoma that is located_in the kidney pelvis.
Papillary carcinoma of renal Pelvis
kidney pelvis papillary carcinoma
Urothelial cell carcinoma of renal Pelvis
renal pelvis transitional cell carcinoma
Papillary neoplasm of renal Pelvis
renal pelvis papillary tumor
neoplasm of renal pelvis
tumor of kidney Pelvis
tumor of renal pelvis
renal pelvis benign neoplasm
Fibrosarcoma of the kidney
kidney fibrosarcoma
A kidney sarcoma that starts in the bones and that is located in the kidney.
renal Osteogenic sarcoma
kidney osteogenic sarcoma
A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
simple phobia
specific phobia
meningioma of the Internal Auditory canal
internal auditory canal meningioma
A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia.
Non-Proliferative Fibrocystic Change
non-proliferative fibrocystic change of the breast
A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane.
Adenosis - breast
Adenosis of the breast
microglandular adenosis
A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change.
Apocrine Adenosis of the breast
apocrine adenosis of breast
A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all.
Fear of animals
Zoophobia
animal phobia
A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
CHF
Cardiac Failure Congestive
Congestive heart disease
Weak heart
congestive heart failure
A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Fibrosarcoma of the breast
breast fibrosarcoma
An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood.
aleukemic leukemia cutis
A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood.
aleukemic myelosis
aleukemic leukemia
teratoma of the adult central nervous system
adult central nervous system teratoma
adult central nervous system mature teratoma
A mature teratoma that is located_in the central nervous system.
Mature teratoma of the CNS
central nervous system mature teratoma
adult central nervous system immature teratoma
A malignant teratoma that is located_in the central nervous system.
Immature teratoma of the CNS
central nervous system immature teratoma
Fear of getting cancer
cancer phobia
cancerophobia
A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases.
Selective IgE Immunodeficiency
Selective immunoglobulin E deficiency
selective IgE deficiency disease
A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
selective immunoglobulin deficiency disease
AIDS phobia
Juvenile granulosa cell tumor
Juvenile granulosa cell tumour
Juvenile type Granulosa cell tumor
Juvenile type Granulosa cell tumour
juvenile type granulosa cell neoplasm
juvenile type testicular granulosa cell tumour
juvenile type testicular granulosa cell tumor
Fibrosarcoma of the Heart
cardiac fibrosarcoma
heart fibrosarcoma
A heart sarcoma that is a soft tissue sarcoma located in the heart.
malignant hemangiopericytoma of Heart
heart malignant hemangiopericytoma
An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells.
Uveal spindle cell melanoma
spindle cell intraocular melanoma
A uveal cancer that has_material_basis_in uvea pigment cells.
melanoma of Uvea
uveal melanoma
A malignant choroid melanoma that is located_in the choroid.
spindle cell melanoma of the Choroid
choroid spindle cell melanoma
A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles.
spindle cell melanoma of the Ciliary body
ciliary body spindle cell melanoma
telangiectatic glomangioma
A specific phobia that is characterized by a fear of flying.
flying phobia
A gastrointestinal system disease that is located_in the esophagus.
esophageal Ulcer
esophageal disease
central nervous system childhood germ cell tumour
paediatric germ cell neoplasm of CNS
pediatric germ cell neoplasm of CNS
central nervous system childhood germ cell tumor
A germ cell cancer that presents in childhood.
paediatric germ cell cancer
paediatric germ cell neoplasm
pediatric germ cell cancer
pediatric germ cell neoplasm
pediatric germ cell tumor
childhood germ cell cancer
Schneiderian papilloma of the Frontal sinus
frontal sinus Schneiderian papilloma
papilloma of nasal vestibule
squamous papilloma of the nasal Vestibule
nasal vestibule papilloma
Brown-Squard syndrome
Brown-Sequard syndrome
urinary tract non-invasive transitional cell neoplasm
An ovary epithelial cancer that is characterized by the presence of mucin.
Ovarian mucinous tumor
malignant ovarian mucinous neoplasm
mucinous tumor of Ovary
ovarian mucinous neoplasm
Paraplegia, lower
paraplegia
paediatric testicular germ cell neoplasm
paediatric testicular germ cell tumour
pediatric testicular germ cell neoplasm
pediatric testicular germ cell tumor
childhood testicular germ cell tumor
An ovarian endodermal sinus tumor that presents in childhood.
childhood ovarian endodermal sinus neoplasm
childhood ovarian endodermal sinus tumour
childhood ovarian yolk sac tumor
childhood ovarian yolk sac tumour
paediatric Ovarian Yolk Sac tumour
pediatric Ovarian Yolk Sac tumor
childhood ovarian endodermal sinus tumor
An ovarian germ cell cancer that presents in childhood.
paediatric Ovarian germ cell neoplasm
paediatric ovarian germ cell tumour
pediatric Ovarian germ cell neoplasm
pediatric ovarian germ cell tumor
childhood ovarian germ cell tumor
melanoma of the leptomeninges
meningeal melanoma
leptomeningeal cancer
malignant leptomeningeal tumor
malignant leptomeningeal tumour
malignant tumor of Leptomeninges
malignant tumour of Leptomeninges
malignant leptomeningeal neoplasm
pediatric leptomeningeal melanoma
childhood leptomeningeal melanoma
melanoma of adult Leptomeninges
adult leptomeningeal melanoma
malignant neoplasm of thalamus
malignant tumor of Thalamus
tumor of Thalamus
thalamic neoplasm
Mitral RH valve dis.
Rheumatic mitral insufficiency
Rheumatic mitral valve changes
Rheumatic mitral valve regurgitation
chronic rheumatic mitral valve
disease of mitral valve
rheumatic disease of mitral valve
rheumatic mitral valve incompetence
mitral valve disease
A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells.
signet ring cell variant cervical mucinous adenocarcinoma
A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus (Simplexvirus humanalpha1 or Simplexvirus humanalpha2).
herpes gastritis
herpetic gastritis
meningioma of the Thoracic Spinal canal and Spinal Cord
thoracic spinal canal and spinal cord meningioma
meningioma of the Jugular Foramen
jugular foramen meningioma
meningioma of Cerebrum
cerebral meningioma
intracerebral cystic meningioma
Cerebral Hemispheric Convexity meningioma
cerebral convexity meningioma
meningioma of the Lateral Ventricle
lateral ventricle meningioma
Inverted papilloma of the kidney Pelvis
renal pelvis inverted papilloma
renal pelvis urothelial papilloma
An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
hypoimmunity
immune deficiency disorder
immunodeficiency syndrome
primary immunodeficiency disease
An anal canal cancer that derives_from epithelial cells.
anal canal and Perianal gland carcinoma
anal canal carcinoma
A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.
Astrocytosis cerebri
gliomatosis cerebri
A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
CI - Chest infection
Chest infection
acute Bronchitis
chest cold
chronic bronchitis
recurrent wheezy bronchitis
acute bronchitis and bronchiolitis
bronchitis
A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm.
uterine corpus epithelioid leiomyosarcoma
A choriocarcinoma of the testis that is present during childhood.
pediatric testicular Choriocarcinoma
childhood choriocarcinoma of the testis
childhood testicular mixed germ cell tumour
paediatric testicular mixed germ cell tumour
pediatric testicular mixed germ cell tumor
childhood testicular mixed germ cell tumor
An embryonal testis carcinoma that occurs in children.
pediatric testicular Embryonal carcinoma
childhood embryonal carcinoma of the testis
childhood embryonal testis carcinoma
Hereditary Papillary renal carcinoma
familial renal papillary carcinoma
A prostatic urethral cancer that derives_from the urothelial lining of the prostatic urethra.
prostatic urethra urothelial carcinoma
A male urethral cancer that derives_from the prostatic urethra.
prostatic urethral cancer
A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
Ovarian MMMT
ovarian malignant mesodermal (mullerian) mixed tumor
ovarian malignant mixed Mullerian tumor
ovarian carcinosarcoma
A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.
mixed mullerian sarcoma of uterus
uterine carcinosarcoma
A neurilemmoma located_in the mediastinum.
Schwannoma of mediastinum
mediastinal neurilemmoma
An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
ovarian small cell carcinoma
A sarcoma of the rectum that results_in lesions that are located_in the rectum.
Kaposi's sarcoma of rectum
rectum Kaposi sarcoma
rectum Kaposi's sarcoma
Xanthosarcoma
inflammatory MFH
malignant inflammatory fibrous histiocytoma
A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.
epithelioid cell sarcoma
epithelioid sarcoma
A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
Madras eye
conjunctivitis
An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
Fiessinger Leroy Reiter syndrome
Post-bacterial arthropathy
Reiter disease
Reiter's disease
postdysenteric arthropathy
reactive arthritis
conventional malignant hemangiopericytoma
corneal intraepithelial neoplasm
Corneal tumor
malignant Corneal tumor
malignant neoplasm of cornea
malignant tumor of cornea
neoplasm of cornea
cornea cancer
A heart valve disease that is located_in the aortic valve.
aortic valve disease
malignant Pericardial Mesothelioma
malignant mesothelioma of pericardium
pericardial mesothelioma
PLAT
thyroid hyalinizing trabecular adenoma
Osteosarcoma of mediastinum
mediastinal osteogenic sarcoma
A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum.
malignant hemangiopericytoma of mediastinum
malignant mediastinum hemangiopericytoma
bladder diffuse clear cell adenocarcinoma
An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
Ovarian mixed epithelial tumor
Ovarian mixed epithelial tumour
mixed epithelial tumour of ovary
mixed epithelial tumor of ovary
An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary.
endometrioid neoplasm of Ovary
malignant ovarian endometrioid tumor
ovarian endometrioid neoplasm
ovarian endometrial cancer
An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology.
Ovarian papillary tumor
Ovarian papillary tumour
Papillary tumor of Ovary
ovarian papillary neoplasm
A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
gastric diffuse adenocarcinoma
A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea.
gastric Cronkhite Canada polyposis
polyposis, skin pigmentation, alopecia, and fingernail changes
Cronkhite-Canada syndrome
primary serous papillary carcinoma of peritoneum
peritoneal serous papillary adenocarcinoma
A mature teratoma of the ovary that presents in childhood.
pediatric Mature teratoma of Ovary
childhood mature teratoma of the ovary
An ovarian germ cell teratoma that presents in childhood.
pediatric teratoma of Ovary
childhood teratoma of the ovary
An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
mature teratoma of the ovary
An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.
ovarian biphasic or triphasic teratoma
Papillary urothelial neoplasm of low malignant potential
bladder PUNLMP
bladder papillary neoplasm of low malignant potential
non-invasive bladder papillary urothelial neoplasm
transient hypogammaglobulinemia of infancy
familial renal oncocytoma
Oncocytoma of kidney
renal epithelial Oncocytic tumor
renal oncocytoma
Seminoma of mediastinum
mediastinum seminoma
transient hypogammaglobulinemia
Growth Hormone Producing adenoma of the Pituitary
Somatotroph adenoma
growth hormone secreting adenoma of pituitary
growth hormone secreting pituitary adenoma
malignant Somatotropinoma
malignant growth hormone secreting neoplasm of pituitary
Papillary adenoma of the kidney
chromophil adenoma of the kidney
type 1 papillary adenoma of the kidney
type 2 papillary adenoma of the kidney
A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
Complement deficiency disease
complement deficiency
A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
Follicular Dendritic cell sarcoma
Follicular dendritic cell tumour
follicular dendritic cell sarcoma
A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli.
Inflammatory carcinoma of breast
Mastitis carcinomatosa
inflammatory breast carcinoma
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
SCID
combined T and B cell inborn immunodeficiency
severe combined immunodeficiency
carcinoma of Cardia of stomach
gastric cardia carcinoma
adenocarcinoma of Cardia of stomach
adenocarcinoma of gastric cardia
gastric cardia adenocarcinoma
malignant Thyrotropinoma
malignant thyroid stimulating hormone producing neoplasm of pituitary gland
TSH Secreting adenoma of the Pituitary
TSH Secreting tumor of Pituitary
TSH Secreting tumour of Pituitary
TSH producing pituitary tumour
Thyrotroph adenoma
TSH producing pituitary tumor
malignant Corticotropinoma of the Pituitary
malignant ACTH producing neoplasm of pituitary gland
An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian mucinous adenocarcinofibroma
ovarian mucinous malignant adenofibroma
A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
Congenital Combined Immunodeficiency
combined T cell and B cell immunodeficiency
A heart lipoma that is located_in the epicardium and derives_from fat cells.
Lipoma of Epicardium
epicardium lipoma
Lipoma of Heart
heart lipoma
pediatric astrocytoma of Cerebellum
childhood cerebellar astrocytic neoplasm
Lipoma of the Cerebral Hemisphere
cerebral hemisphere lipoma
A central nervous system benign neoplasm that derives_from fat cells.
Lipoma of the CNS
central nervous system lipoma
Lipoma of the Corpus Callosum
corpus callosum lipoma
viral esophagitis
A disease that has_material_basis_in genetic variations in the human genome.
genetic disease
ectopic thymus
A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.
fibromyalgia
A chordoma of skull base that is located in the clivus.
Chordoma of Clivus
clivus chordoma
A chondroid chordoma and chordoma of the clivus that is located_in the clivus.
Chondroid Chordoma of the Clivus
clivus chondroid chordoma
A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed.
ovarian fetiform teratoma
A mature teratoma of the ovary that is predominantly solid with interspersed cysts.
ovarian solid teratoma
A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue.
Bartholin gland adenocarcinoma
adenocarcinoma of the Bartholin's gland
adenocarcinoma of bartholin's gland
Bartholin's gland adenocarcinoma
An adamantinoma of long bone that is located_in the tibia.
Tibial adamantinoma morphology
tibial adamantinoma
A myopathy characterized by muscle inflammation.
Inflammatory disorder of muscle
myositis
A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.
malignant teratoma of Ovary
immature teratoma of ovary
adult malignant hemangiopericytoma
adult malignant intracranial hemangiopericytoma
adult intracranial malignant hemangiopericytoma
anterior optic tract meningioma
Bilateral meningioma of the optic nerve
bilateral meningioma of optic nerve
meningioma of the Cerebellar Pontine Angle
cerebellopontine angle meningioma
A vulva adenocarcinoma that has_material_basis_in eccrine glands.
vulvar eccrine adenocarcinoma
melanocytic psammomatous MPNST
melanotic psammomatous malignant peripheral nerve sheath tumor
Melanotic malignant nerve sheath tumor
Melanotic malignant peripheral nerve sheath tumor
Melanotic malignant peripheral nerve sheath tumour
melanocytic MPNST
malignant melanocytic neoplasm of the peripheral nerve sheath
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
AIDS
acquired Immune deficiency
acquired immune deficiency syndrome
acquired immunodeficiency syndrome
A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
B-cell lymphocytic leukemia/small lymphocytic lymphoma
CLL/SLL
chronic lymphocytic leukemia/small lymphocytic lymphoma
A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.
osmotic demyelination syndrome
central pontine myelinolysis
A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine disorder
migraine variant
migraine with or without aura
migraine
Osteosarcoma of Liver
hepatic osteogenic sarcoma
hypersplenia
hypersplenism
A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
Diffuse Melanosis
Diffuse melanocytosis
Meningeal melanocytosis
diffuse meningeal melanocytosis
meningioma of the Anterior Foramen Magnum
anterior foramen magnum meningioma
pediatric glioma of the Brainstem
childhood brain stem glioma
childhood brainstem astrocytoma
An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.
ADEM
acute disseminated encephalitis
acute disseminated encephalomyelitis
Encephalitis &/or myelitis
encephalomyelitis
metanephric adenoma
An ovarian cystadenoma that is characterized by the presence of finger-like projections.
ovarian papillary cystadenoma
Dextrotransposition of aorta
Double outlet right ventricle with subpulmonary ventricular septal defect
Taussig-Bing syndrome or defect
double outlet right ventricle
An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary.
ovarian surface papilloma
An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells.
serous Surface Papillary carcinoma of Ovary
ovary papillary carcinoma
Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
tetralogy of Fallot
childhood central nervous system mature teratoma
carcinoma of the eyelid
eyelid carcinoma
A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells.
cervical adenoid basal carcinoma
A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.
PML
progressive multifocal leukoencephalopathy
A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
pulmonary hypertension
malignant melanoma of choroid
melanoma of the Choroid
malignant choroid melanoma
ovarian endometrioid malignant adenofibroma
ceruminous adenocarcinoma
A vulva adenocarcinoma that has_material_basis_in apocrine glands.
vulvar apocrine adenocarcinoma
Fibrosarcoma of the CNS
central nervous system fibrosarcoma
A hamartoma syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
Cowden disease
multiple hamartoma syndrome
Cowden syndrome
A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation.
Lipomatous Medulloblastoma
cerebellar liponeurocytoma
A rectal benign neoplasm that has_material_basis_in fat tissue.
lipoma of the rectum
rectal lipoma
An encephalitis that involves inflammation of the brain caused by viral infection.
epidemic encephalitis
viral encephalitis
An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.
Lipoma of large Intestine
large intestine lipoma
A cystadenofibroma that is characterized by the presence of mucin.
mucinous cystadenofibroma
An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian mucinous adenofibroma
pediatric testicular Teratocarcinoma
childhood teratocarcinoma of the testis
clear cell variant infiltrating bladder urothelial carcinoma
Invasive bladder Urothelial carcinoma
invasive bladder transitional cell carcinoma
urinary bladder Signet Ring adenocarcinoma
signet ring cell adenocarcinoma of bladder
bladder signet ring cell adenocarcinoma
acinar adenocarcinoma of the lung
lung acinar adenocarcinoma
A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis.
rete testis adenoma
melanocytic Schwannoma of mediastinum
mediastinal melanocytic neurilemmoma
periosteal osteosarcoma
periosteal osteogenic sarcoma
A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
Prion disease pathway
Prion protein disease
Spongiform Encephalopathy
prion induced disorder
transmissible spongiform encephalopathy
prion disease
A breast hemangioma that is characterized by capillary-sized vessels.
Capillary Angioma of breast
breast capillary hemangioma
A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells.
breast Histiocytoid hemangioma
breast epithelioid hemangioma
pediatric myxoid chondrosarcoma
childhood myxoid chondrosarcoma
seborrheic keratosis
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
connective tissue disorder
disorder of connective tissue
connective tissue disease
Hemangioblastoma of Cerebellum
cerebellar angioblastoma
A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.
Hemangioblastoma of Brainstem
brain stem angioblastoma
A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina.
vaginal spindle cell epithelioma
Occult squamous cell carcinoma of the lung
occult squamous cell carcinoma of lung
lung occult squamous cell carcinoma
An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology.
glandular pattern ovarian yolk sac tumor
An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile.
hepatoid pattern ovarian yolk sac tumor
An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma.
polyvesicular vitelline pattern ovarian yolk sac tumor
meningioma of the Clivus
clivus meningioma
A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components.
Bartholin gland adenomyoma
Bartholin's gland adenomyoma
mixed cell uveal melanoma
ciliary body mixed cell melanoma
malignant melanoma of ciliary body
melanoma of the Ciliary body
malignant ciliary body melanoma
choroid mixed cell melanoma
A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli.
Polygonal cell Thymoma
Thymoma, cortical
cortical thymoma
thymoma type B2
Lymphoma of Heart
heart lymphoma
angiomatous meningioma
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Inborn Errors of Metabolism
Metabolic hereditary disorder
inborn metabolism disorder
inherited metabolic disorder
small cell carcinoma of stomach
gastric small cell carcinoma
meningioma of the Posterior Foramen Magnum
posterior foramen magnum meningioma
An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian clear cell adenocarcinofibroma
ovarian clear cell malignant adenofibroma
Schneiderian papilloma of the ethmoid sinus
ethmoid sinus Schneiderian papilloma
Inverted papilloma of the ethmoid sinus
ethmoid sinus inverted papilloma
Schwannoma of Pleura
neurilemmoma of the pleura
medium/large size posterior uveal melanoma
small size posterior uveal melanoma
posterior uveal melanoma
A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels.
uterine corpus myxoid leiomyosarcoma
micropapillomatosis labialis
A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
acinar cell adenoma
acinic cell adenoma
adenomas
adenoma
pediatric visual pathway astrocytoma
childhood optic tract astrocytoma
glioma of the pediatric visual pathway
childhood optic nerve glioma
A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall.
malignant bone tumor of the Chest Wall
malignant bone neoplasm of chest wall
chest wall bone cancer
A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.
apocrine carcinoma of breast
breast apocrine carcinoma
A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.
oncocytic breast carcinoma
breast oncocytic carcinoma
A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.
Invasive tubular carcinoma of breast
invasive tubular breast carcinoma
tubular carcinoma of breast
breast tubular carcinoma
bladder colonic type adenocarcinoma
tubular adenocarcinoma of stomach
gastric tubular adenocarcinoma
Adrenal cortical tumors
malignant Adrenocortical tumor
malignant neoplasm of adrenal cortex
malignant tumour of adrenal cortex
neoplasm of adrenal cortex
adrenal cortex cancer
classic variant of chromophobe renal cell carcinoma
eosinophilic variant of chromophobe renal cell carcinoma
Hibernoma of nervous system
nervous system hibernoma
endobronchial leiomyoma
bone hemangioma
hemangioma of bone
osseous epithelioid hemangioma
osseous hemangioma
bone epithelioid hemangioma
A vaginal adenoma that is a polyp that resembles colorectal villous adenoma.
vaginal villous adenoma
A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
HIGM1
X-linked hyper-IgM immunodeficiency
XHIM
hyper-IgM immunodeficiency syndrome type 1
hyper-IgM syndrome 1
hyper-IgM syndrome type 1
immunodeficiency with hyper-IgM type 1
X-linked hyper IgM syndrome
A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
hemangioma of Cerebrum
cerebral angioma
A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma.
cervical adenoma malignum
A breast carcinoma that is located_in the nipple.
nipple carcinoma
hemangioma of scrotum
scrotal angioma
A choriocarcinoma that is located in the central nervous system of an adult.
Choriocarcinoma of the adult central nervous system
adult central nervous system choriocarcinoma
A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells.
Choriocarcinoma of the paediatric central nervous system
Choriocarcinoma of the pediatric central nervous system
paediatric CNS choriocarcinoma
pediatric CNS choriocarcinoma
childhood CNS choriocarcinoma
Fordyce angiokeratoma
Fordyce's spot
Fordyce-type Angiokeratoma of scrotum
angiokeratoma of Fordyce
A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years.
Juvenile papillomatosis of the breast
breast juvenile papillomatosis
adult pineoblastoma
A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
Ankylosing vertebral hyperostosis
DISH
Disseminated idiopathic skeletal hyperostosis
Forestier disease
diffuse idiopathic skeletal hyperostosis
childhood central nervous system immature teratoma
A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin).
breast large cell neuroendocrine carcinoma
pulmonary large cell neuroendocrine carcinoma
A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate.
cervical large cell neuroendocrine carcinoma
A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
Babinski-Froelich syndrome
Froehlich syndrome
Froehlich's syndrome
Froelich's syndrome
adiposogenital syndrome
Froelich syndrome
A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells.
diffuse infiltrative lymphocytosis syndrome
A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Witkop's syndrome
tooth and nail syndrome
A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
Myisitis ossificans
Ossification - muscle
myositis ossificans
A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.
Capgras delusion theory
Capgras syndrome
A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
spondylolisthesis
A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
Aarskog-Scott syndrome
Greig's syndrome
X-linked Aarskog syndrome
A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.
Achard syndrome
Paroxysmal hematoma of the finger
Achenbach syndrome
A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
ALPS
Canale-Smith syndrome
autoimmune lymphoproliferative syndrome
A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.
Cholestasis-edema syndrome, Norwegian type
Aagenaes syndrome
A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.
Cervicocranial syndrome
Posterior cervical sympathetic syndrome
No OMIM mapping confirmed by DO. [SN].
Barre-Lieou syndrome
A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells.
testicular monophasic choriocarcinoma
synchronous multifocal osteogenic sarcoma
asynchronous multifocal osteogenic sarcoma
cancer of Fundus of stomach
carcinoma of fundus of stomach
gastric fundus carcinoma
carcinoma of Pylorus of stomach
gastric pylorus carcinoma
cancer of body of stomach
carcinoma of body of stomach
gastric body carcinoma
tubular variant testicular seminoma
MPNST with Rhabdomyosarcoma
MPNST with rhabdomyoblastic differentiation
malignant Triton tumour
malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
malignant triton tumor
An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
cerebrovascular disorder
cerebrovascular disease
A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
Splenic neoplasm
malignant Splenic tumor
malignant tumour of spleen
spleen neoplasm
spleen cancer
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands.
Littre gland carcinoma
Thymoma, mixed type, malignant
malignant type AB thymoma
A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
Spinal stenosis of lumbar region
cervical spinal stenosis
lumbar spinal stenosis
spinal stenosis
A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.
Fibrillary Astrocytic tumors
fibrillary astrocytoma
Colonic small cell carcinoma
colon small cell carcinoma
A bile duct cystadenoma located_in an intrahepatic bile duct.
Cystadenoma of the Intrahepatic bile duct
intrahepatic bile duct cystadenoma
Neurilemmoma of Jugular Foramen
schwannoma of jugular foramen
An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Palatoschisis
cleft palate
small cell carcinoma of the Cervix Uteri
small cell carcinoma of the cervix
cervix small cell carcinoma
A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.
Bilateral breast carcinoma
bilateral breast cancer
synchronous bilateral breast carcinoma
An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal.
Lipoma of the Internal Auditory canal
internal auditory canal lipoma
A thoracic cancer that is located_in the chest wall.
Lymphoma of the Chest Wall
chest wall cancer
lymphoma of chest wall
malignant neoplasm of chest wall
malignant tumor of Chest Wall
chest wall lymphoma
A bone cancer and lymphoma by site that results_in lymphoma starting in the bone.
Lymphoma of the bone
lymphoma of bone
bone lymphoma
A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
Pauciarticular onset juvenile chronic arthritis
Still's disease
acute juvenile rheumatoid arthritis
juvenile chronic polyarthritis
juvenile idiopathic arthritis
juvenile rheumatoid arthritis
monarticular juvenile rheumatoid arthritis
pauciarticular juvenile arthritis
systemic juvenile rheumatoid arthritis
Lymphoma of Sternum
lymphoma of the sternum
sternum lymphoma
An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.
polyembryoma of the ovary
A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation.
breast myoepithelial carcinoma
An endometrial adenocarcinoma that is characterized by papillary differentiation.
villoglandular endometrial endometrioid adenocarcinoma
A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
Steele-Richardson-Olszewski syndrome
progressive supranuclear ophthalmoplegia
progressive supranuclear palsy
A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass.
desmoplastic small round-cell neoplasm
desmoplastic small round cell tumor
A botryoid rhabdomyosarcoma that presents in childhood.
childhood sarcoma Botryoides
childhood botryoid rhabdomyosarcoma
A vagina botryoid rhabdomyosarcoma that presents in childhood.
vaginal childhood sarcoma Botryoides
childhood vagina botryoid rhabdomyosarcoma
A botryoid rhabdomyosarcoma that is located_in the vagina.
vagina botryoid rhabdomyosarcoma
childhood sarcoma Botryoides of the Vulva
vulvar childhood botryoid-type embryonal rhabdomyosarcoma
A sarcoma of colon that is located_in the colon.
Colonic Kaposi's sarcoma
colon Kaposi sarcoma
A vaginal adenoma that resembles the colorectal tubular adenoma.
retired NCI concept.
obsolete vaginal tubular adenoma
progressive bulbar palsy
A pilocytic astrocytoma that occurs during adolescence.
juvenile pilocytic astrocytoma
A pilocytic astrocytoma that occurs during childhood.
pediatric Pilocytic astrocytoma
childhood pilocytic astrocytoma
Compartmental syndrome
compartment syndrome
pancreatoblastoma
A pancreatic carcinoma that is characterized by its papillary architecture.
pancreatic solid pseudopapillary carcinoma
peripheral motor neuropathy
motor neuritis
A rete ovarii benign neoplasm that derives_from glandular epithelial cells.
rete ovarii adenoma
A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells.
rete ovarii cystadenofibroma
An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation.
Intraductal Proliferative Lesion
breast intraductal proliferative lesion
A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Hepatoma
hepatocellular carcinoma
A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia.
flat ductal epithelial atypia
sarcomatoid transitional cell carcinoma of renal Pelvis
kidney pelvis sarcomatoid transitional cell carcinoma
infiltrating ureter transitional cell carcinoma
familial melanoma
A botryoid rhabdomyosarcoma that is present in an adult.
adult botryoid rhabdomyosarcoma
A vagina botryoid rhabdomyosarcoma that presents in adulthood.
adult vagina botryoid rhabdomyosarcoma
primary Ectopic meningioma of ethmoidal sinus
ethmoid sinus ectopic meningioma
teratoma of Pineal Area
pineal region teratoma
A mature teratoma that is located_in the pineal region.
Mature teratoma of the Pineal Area
pineal region mature teratoma
Atypical Pineal teratoma
pineal region immature teratoma
A liver cancer that has_material_basis_in epithelial cells.
Liver and Intrahepatic bile duct carcinoma
liver carcinoma
An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells.
oxyphilic endometrial endometrioid adenocarcinoma
mediastinal gray zone lymphoma
Lymphoma of mediastinum
mediastinal malignant lymphoma
parasagittal meningioma
hepatoblastoma
neuroblastoma of the Spinal Cord
spinal cord neuroblastoma
Spinal Cord PNET
spinal cord primitive neuroectodermal neoplasm
A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease.
Fibroepithelial polyp
Fibroepithelial polyp of skin
cutaneous tag
soft fibroma
skin tag
A germ cell cancer that is associated with an embryo.
embryo neoplasm
embryonal neoplasm
embryonal cancer
A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.
Fibrosarcoma, small Intestine
small bowel fibrosarcoma
ureteral small cell carcinoma
ureter small cell carcinoma
transitional cell carcinoma of ureter
ureteral Urothelial cell carcinoma
ureter transitional cell carcinoma
An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
mixed epithelial carcinoma of Ovary
ovary mixed epithelial carcinoma
ovarian seromucinous carcinoma
An ovary epithelial cancer that has developed in relatives of patients that have a history of ovarian carcinoma.
familial ovarian carcinoma
removed previous disease name - familiar ovarian carcinoma, it is a typo[LS]
hereditary ovarian carcinoma
A lymphoma by site that is manifested in immune system cells called lymphocytes.
malignant lymphoma of eye
eye lymphoma
A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor.
glomangiomatosis
Lymphocyte-Predominant Thymoma
Thymoma, organoid
predominantly cortical thymoma
Peroneal nerve palsy
peroneal nerve paralysis
enamel hypoplasia
dental enamel hypoplasia
urinary bladder inverted papilloma
Urothelial papilloma
bladder papilloma
transitional cell papilloma of bladder
urinary bladder Urothelial papilloma
bladder transitional cell papilloma
Inverted papilloma of the urethra
urethra inverted papilloma
ureteral Inverted papilloma
ureter inverted papilloma
ureter urothelial papilloma
An intraocular retinoblastoma that effects children.
pediatric intraocular retinoblastoma
childhood intraocular retinoblastoma
A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
pediatric meningioma of brain
childhood brain meningioma
An inverted follicular keratosis that is located_in the vulva.
vulvar inverted follicular keratosis
Seborrheic Keratosis of Vulva
vulvar seborrheic keratosis
Inverted folicular keratosis
inverted follicular keratosis
neoplasm of sphenoidal sinus
tumor of Sphenoidal sinus
sphenoidal sinus benign neoplasm
A malignant teratoma that has_material_basis_in gastric tissue.
malignant teratoma of stomach
malignant gastric teratoma
Telangiectatic osteosarcoma
telangiectatic osteogenic sarcoma
An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes.
aleukemic monocytic leukemia cutis
transitional Zone carcinoma of rectum
rectal cloacogenic carcinoma
A Bartholin's gland carcinoma that derives_from squamous epithelial cells.
Bartholin gland squamous cell carcinoma
Bartholin's gland squamous cell carcinoma
urothelial papillary carcinoma of the bladder
bladder urothelial papillary carcinoma
micropapillary variant infiltrating bladder urothelial carcinoma
Excessive vasoactive intestinal peptide secretion
Verner-Morrison syndrome
pancreatic WDHA syndrome
pancreatic cholera
Sensitive dentin
dentin sensitivity
peripheral epithelioid sarcoma
A myopathy that is characterized by mitochondrial dysfunction.
mitochondrial cytopathy
mitochondrial myopathy
mixed cell type Uveal melanoma
intraocular mixed cell type melanoma
iris mixed cell melanoma
malignant melanoma of iris
melanoma of the Iris
malignant iris melanoma
mixed cell melanoma of Choroid
intermediate cell type choroid melanoma
intermediate cell type ciliary body melanoma
Colloidal carcinoma of the gallbladder
gallbladder mucinous carcinoma
A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
ACTH-Producing Pituitary Adenoma
Corticotroph adenoma
Corticotropinoma
ACTH-secreting pituitary adenoma
Gemistocytic Astrocytic tumor
gemistocytic astrocytoma
pediatric astrocytoma of Cerebrum
childhood cerebral astrocytoma
Protoplasmic Astrocytic tumor
protoplasmic astrocytoma
An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces.
ovarian mucinous cystadenofibroma
intramuscular lipoma
infiltrating lipoma
A synovium neoplasm that is located_in the tendon sheath.
Lipoma of the Tendon Sheath
tendon sheath lipoma
lumbosacral lipoma
mucinous intrahepatic cholangiocarcinoma
adenoma of the Bronchial Mucus gland
adenoma of bronchial mucus gland
bronchial mucus gland adenoma
A squamous cell carcinoma that is located_in the glottis.
Epidermoid carcinoma of the Glottis
squamous cell carcinoma of glottis
glottis squamous cell carcinoma
A clear cell adenocarcinoma that is located_in the bile duct.
bile duct clear cell carcinoma
bile duct clear cell adenocarcinoma
A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
Infection by Anisakis larva
anisakiasis
An immature teratoma of overy that presents in childhood.
pediatric Immature teratoma of Ovary
childhood immature teratoma of ovary
uveal epithelioid cell melanoma
Choroidal epithelioid cell melanoma
choroid epithelioid cell melanoma
ciliary body epithelioid cell melanoma
basaloid lung carcinoma
A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm.
cervical basaloid squamous cell carcinoma
squamous cell carcinoma of penis, Basaloid type
penis basaloid carcinoma
A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm.
vulvar basaloid carcinoma
vulvar basaloid squamous cell carcinoma
skin Basaloid squamous cell carcinoma
basaloid squamous cell skin carcinoma
Leber's hereditary optic neuropathy
Leber's optic atrophy
Leber hereditary optic neuropathy
Basaloid carcinoma of the Thymus
thymus basaloid carcinoma
Basaloid squamous carcinoma of esophagus
esophageal basaloid squamous cell carcinoma
multiple skull base meningioma
mature B-cell lymphocytic neoplasm
mature B-cell neoplasm
A non-Hodgkin lymphoma that has_material_basis_in B cells.
B-cell lymphocytic neoplasm
B-cell lymphoma
A dermoid cyst that is located_in the spinal cord.
Spinal Cord Dermoid
spinal cord dermoid cyst
A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.
lipid-rich breast carcinoma
breast lipid-rich carcinoma
mediastinal melanocytic MPNST
malignant melanocytic peripheral nerve sheath tumor of mediastinum
A cystic teratoma that is present in an adult.
adult cystic teratoma
combined small and large cell lung cancer
small cell and large cell carcinoma of the lung
small cell and squamous cell carcinoma of the lung
mixed small cell and squamous cell carcinoma of lung
lung mixed small cell and squamous cell carcinoma
A papillary thyroid carcinoma arising in the thyroid gland from multiple foci.
Multifocal papillary thyroid carcinoma (PTC)
multicentric papillary thyroid carcinoma
A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells.
Columnar cell PTC
Columnar cell variant (CCV)
columnar cell variant papillary carcinoma
columnar cell papillary thyroid carcinoma
A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns.
Tall Cell Variant Thyroid Gland Papillary Carcinoma
Tall cell PTC
tall cell variant papillary carcinoma
tall cell papillary thyroid carcinoma
hairy cell leukaemia of spleen
hairy cell leukemia of spleen
splenic manifestation of hairy cell leukaemia
splenic manifestation of hairy cell leukemia
pediatric epithelioid sarcoma
childhood epithelioid sarcoma
macrocystic pattern testicular yolk sac tumor
A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.
splenic leukemia
splenic manifestation of leukemia
meningioma of Diaphragm Sellae
diaphragma sellae meningioma
Epiglottic tumor
neoplasm of epiglottis
epiglottis neoplasm
A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment.
refractory hairy cell leukemia
A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment.
refractory hematologic cancer
Irradiation cystitis
radiation cystitis
Hairy cell leukaemia variant
Hairy cell leukemia variant
HCL-V
small cell/neuroendocrine carcinoma of urinary bladder
small cell neuroendocrine carcinoma of the urinary bladder
urinary bladder small cell neuroendocrine carcinoma
Oat cell carcinoma of the gallbladder
gallbladder small cell carcinoma
Oat cell carcinoma of esophagus
Oat cell carcinoma of oesophagus
oesophagus small cell carcinoma
esophagus small cell carcinoma
ampullary small cell carcinoma
ampulla of Vater small cell carcinoma
A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder.
cystitis cystica
An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium.
endometrial small cell carcinoma
A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland.
Bartholin gland small cell carcinoma
Bartholin's gland small cell carcinoma
small cell carcinoma of the Thymus
thymus small cell carcinoma
small cell carcinoma of Larynx
laryngeal small cell carcinoma
A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.
Langerhans cell sarcoma
An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
Bekhterev syndrome
Bekhterev's disease
Marie-Strumpell disease
ankylosing spondylitis
An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Arthritis or polyarthritis, rheumatic
atrophic Arthritis
rheumatoid arthritis
A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate.
Stromal sarcoma of the prostate
prostate stromal sarcoma
An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).
anaplastic oligodendroglioma
A rectal benign neoplasm that has_material_basis_in smooth muscle tissue.
leiomyoma of rectum
rectum leiomyoma
rectal leiomyoma
De Quervain's thyroiditis
Giant-cell thyroiditis
Granulomatous thyroiditis
Subacute Granulomatous Thyroiditis
subacute thyroiditis
Updating to more specific UMLS_CUI from C0029495 to C0040147.
thyroiditis
Occult adenocarcinoma of the lung
occult adenocarcinoma of lung
lung occult adenocarcinoma
Occult large cell carcinoma of the lung
lung occult large cell carcinoma
Cloacogenic anal carcinoma
cloacogenic carcinoma
anal Basaloid carcinoma
basaloid carcinoma of the anus
anus basaloid carcinoma
anal Giant (malignant) Condyloma
anal Buschke-Lowenstein tumor
An anal canal cancer that derives_from epithelial squamous cells.
anal canal squamous cell carcinoma
mixed acidophil-basophil adenoma
mixed eosinophil-basophil adenoma
A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies.
Autoimmune haemolytic anaemia
autoimmune hemolytic anaemia
autoimmune hemolytic anemia
benign Schwannoma of the skin
benign dermal neurilemmoma
subacute lymphocytic thyroiditis
An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
Chronic Lymphocytic Thyroiditis
Hashimoto thyroiditis
Hashimoto's Disease
Hashimoto's syndrome
Hashimoto's thyroiditis
Lymphocytic Thyroiditis
autoimmune thyroiditis
An ovarian cystadenoma that is characterized by the presence of endometrial tissue.
ovarian endometrioid cystadenoma
hereditary conventional renal cell carcinoma
adenoid cystic carcinoma of the maxillary sinus
adenoid cystic carcinoma of maxillary sinus
maxillary sinus adenoid cystic carcinoma
An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
ANEMIA NORMOCYTIC
Normocytic normochromic anemia
normocytic anemia
A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.
Intermediate Immature teratoma
malignant teratoma, intermediate
intermediate malignant teratoma
melanomatosis
pulmonary Combined large cell neuroendocrine carcinoma
combined large cell neuroendocrine carcinoma of lung
lung combined large cell neuroendocrine carcinoma
psammomatous meningioma
Fibroblastic meningioma
fibrous meningioma
Meningotheliomatous meningioma
meningothelial meningioma
transitional (mixed) meningioma
transitional meningioma
Thymoma malignant Noninvasive
noninvasive malignant thymoma
A papillary carcioma that is located_in the gallbladder.
Papillary carcinoma of the gallbladder
gallbladder papillary carcinoma
A breast fibroadenoma that is larger than 5 cm.
Giant Fibroadenoma
Giant fibroadenoma of breast
breast giant fibroadenoma
CLL/SLL with IGVH SHM
postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
Embryonal carcinoma of paediatric CNS
Embryonal carcinoma of pediatric CNS
paediatric CNS embryonal cell carcinoma
pediatric CNS embryonal cell carcinoma
childhood CNS embryonal cell carcinoma
Embryonal carcinoma of CNS
embryonal carcinoma of the central nervous system
central nervous system embryonal carcinoma
A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
Embryonal carcinoma of the adult central nervous system
adult central nervous system embryonal carcinoma
A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas.
Pancreatic Mucinous Cystadenocarcinoma
pancreatic colloid cystadenocarcinoma
mucinous cystadenocarcinoma of pancreas
pancreatic mucinous cystic neoplasm
pancreatic mucinous cystadenoma
pancreatic invasive mucinous cystadenocarcinoma
pancreatic non-invasive mucinous cystadenocarcinoma
Stress incontinence - female
female urinary stress incontinence
female stress incontinence
An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle.
uterine corpus apoplectic leiomyoma
An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus.
uterine corpus cellular leiomyoma
bladder urachal urothelial carcinoma
lymphoepithelioma-like variant acinar prostate adenocarcinoma
lymphoepithelioma-like acinar prostate adenocarcinoma
A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms.
Selective IgD Immunodeficiency
Selective immunoglobulin D deficiency
selective IgD deficiency disease
A fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.
familial fallopian tube carcinoma
removed previous name -familiar fallopian tube carcinoma - was a typo[LS]
hereditary fallopian tube carcinoma
cribriform variant testicular seminoma
Congenital Epulides
congenital epulis
carcinoma of the paraurethral gland
paraurethral gland carcinoma
Skene gland carcinoma
An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium.
secretory uterine corpus endometrioid adenocarcinoma
endometrial endometrioid adenocarcinoma, secretory variant
An endometrial adenocarcinoma that is characterized by the presence of abundant mucin.
mucin-rich endometrial endometrioid adenocarcinoma
An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood.
Childhood Extraskeletal Osteosarcoma
pediatric extraskeletal Osteosarcoma
childhood extraosseous osteosarcoma
neoplasm of urethra
neoplasm. urethra
urethral benign neoplasm
endodermal sinus pattern testicular yolk sac tumor
A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.
astroblastoma
An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
neoplasm of urinary system
tumor of the urinary system
tumor of urinary tract
urinary tract neoplasm
urinary system benign neoplasm
breast adenomyoepithelial adenosis
stage IVB urinary bladder carcinoma
Jewett-Marshall stage D1 bladder cancer
Jewett-Marshall stage D2 bladder cancer
Jewett-Marshall bladder cancer
axonal neuropathy
A urinary system disease that is located_in the urethra.
urethra disease
urethral disease
An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces.
ovarian serous cystadenofibroma
cranial pseudosarcomatous fasciitis
Fasciitis - nodular
Pseudosarcomatous Fasciitis
nodular fasciitis
pseudosarcomatous fibromatosis
A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris.
iris spindle cell melanoma
Nephrogenic adenoma of the urinary bladder
nephrogenic adenoma of urinary bladder
nephrogenic adenoma
An urinary tract cancer that derives_from the tissues of the urethra.
malignant tumour of urethra
malignant urethral neoplasm
urethral Ca
cancer of urethra
urethra cancer
A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells.
pediatric ovarian dysgerminoma
childhood ovarian dysgerminoma
An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization.
ovarian stromal hyperthecosis
thymic dysplasia
sarcomatoid carcinoma of rectum
rectum sarcomatoid carcinoma
An urethral cancer that derives_from the male urethra.
male urethral cancer
solid pattern testicular yolk sac tumor
A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
vulvar keratinizing squamous cell carcinoma
Kimura's disease
Kimura disease
A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.
Superficial urinary bladder carcinoma
superficial urinary bladder cancer
pituitary hypoplasia
An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
adrenal medulla carcinoma
An urethral cancer that derives_from the female urethra.
female urethral cancer
Parakeratotic skin papilloma
squamous cell papilloma of skin
lymphohistiocytoid mesothelioma
A leiomyosarcoma that is located_in the pulmonary vein.
leiomyosarcoma of the pulmonary Vein
pulmonary vein leiomyosarcoma
A leiomyosarcoma that is located_in the pulmonary artery.
leiomyosarcoma of the pulmonary artery
pulmonary artery leiomyosarcoma
A leiomyosarcoma that is located_in the superior vena cava.
leiomyosarcoma of the Superior Vena Cava
superior vena cava leiomyosarcoma
PNET of Cerebrum
cerebral primitive neuroectodermal tumor
A disease of anatomical entity that has_material_basis_in hematopoietic cells.
Blood disease
Blood dyscrasia
DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
Hematological disease
blood disorder
disease of haematopoietic system
disease of hematopoietic system
haematopoietic system disease
hematopoietic system disease
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
Berlin breakage syndrome
Microcephaly, normal intelligence and immunodeficiency
NBS
Seemanova syndrome II
Seemanova syndrome type 2
ataxia-telangiectasia variant
immunodeficiency-microcephaly-chromosomal instability syndrome
microcephaly-immunodeficiency-lymphoreticuloma syndrome
Nijmegen breakage syndrome
colonic L-cell glucagon-like peptide producing tumor
L-cell glucagon-like peptide producing tumor
A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.
vulvar keratoacanthoma-like carcinoma
NCI retired concept, vulvar keratoacanthoma-like carcinoma.
vulvar keratoacanthoma
A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present.
vulvar non-keratinizing squamous cell carcinoma
An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces.
ovarian endometrioid cystadenofibroma
A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
anthrax disease
pineal region germinoma
A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area.
germinoma of the pediatric brain
childhood brain germinoma
A physical urticaria induced by stroking of the skin.
dermatographic urticaria
dermographism
dermatographia
A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
childhood germ cell brain tumour
germ cell neoplasm of the paediatric brain
germ cell neoplasm of the pediatric brain
childhood germ cell brain tumor
polyvesicular vitelline pattern testicular yolk sac tumor
An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements.
sarcomatoid uterine corpus endometrioid adenocarcinoma
A perivascular epithelioid cell tumor that is located_in the uterus.
uterine corpus PEComa
uterus perivascular epithelioid cell tumor
An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
ovarian clear cell cystadenocarcinoma
polyp - middle ear
polyp of the middle ear
polyp of middle ear
chronic metabolic polyneuropathy
A male reproductive organ benign neoplasm that is located_in the epididymis.
benign Epididymal epithelial Mesothelioma
adenomatoid neoplasm of the epididymis
epididymis adenomatoid tumor
A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.
acantholytic variant squamous cell breast carcinoma
adenomatoid tumour
benign localised epithelial Mesothelioma
benign localized epithelial Mesothelioma
adenomatoid tumor
A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma.
spindle cell variant squamous cell breast carcinoma
A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin.
large cell keratinizing variant squamous cell breast carcinoma
childhood anaplastic Rhabdomyosarcoma
childhood pleomorphic rhabdomyosarcoma
A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy.
NK-cell large granular Lymphocyte Lymphocytosis
chronic NK-cell lymphocytosis
A pleural cancer that has_material_basis_in mesothelium cells.
malignant mesothelioma of pleura
malignant pleural mesothelioma
An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
diverticulitis
duodenal delta cell somatostatin producing tumor
duodenal somatostatinoma
large cell lung carcinoma with Rhabdoid Phenotype
large cell carcinoma with rhabdoid phenotype
meningioma of the Petrous Ridge
petrous apex meningioma
A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
cervical keratinizing squamous cell carcinoma
A female urethral cancer located_in the posterior urethra.
Posterior urethral malignant tumor
posterior urethra cancer
A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
Osgood-Schlatter disease
Osteochondritis of tibial tubercle
Osteochondrosis of proximal tibia
juvenile osteochondrosis of tibial tubercle
Osgood-Schlatter's disease
vulvar proximal-type epithelioid sarcoma
central epithelioid sarcoma
A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children.
Ependymal tumor of brain
Ependymoma of brain
brain ependymoma
acute peptic ulcer with hemorrhage
acute peptic ulcer with hemorrhage and perforation
acute peptic ulcer without hemorrhage and without perforation
peptic ulcer disease
pediatric infratentorial ependymoma
childhood infratentorial ependymoma
paediatric Cerebral Ependymoma
paediatric Supratentorial Ependymoblastoma
paediatric supratentorial ependymoma
pediatric Cerebral Ependymoma
pediatric Supratentorial Ependymoblastoma
pediatric supratentorial ependymoma
childhood supratentorial ependymoma
An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct.
Papillary adenoma of the extrahepatic bile duct
extrahepatic bile duct papillary adenoma
neoplasm of small intestine
small intestinal neoplasm
small intestine benign neoplasm
small intestinal L-cell glucagon-like peptide producing tumor
A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.
Intraductal papillomatosis of the breast
breast papillomatosis
breast intraductal papillomatosis
Wolffian adnexal neoplasm
meningioma of Lumbar Spinal canal and Spinal Cord
lumbar spinal canal and spinal cord meningioma
A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
childhood central nervous system mixed germ cell tumor
female Orgasmic disorder
inhibited female orgasm
A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.
periductal breast myoepitheliosis
A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.
breast myoepitheliosis
A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.
childhood infratentorial ependymoblastoma
pediatric infratentorial ependymoblastoma
childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered
An endometritis that is characterized by onset within the past 1 - 3 days.
acute endometritis
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland.
adenocarcinoma of anal ducts
anal glands adenocarcinoma
adenocarcinoma of anal gland
anal gland adenocarcinoma
squamous papillomatosis
subareolar duct papillomatosis
A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component.
breast ductal adenoma
A breast adenoma that occurs during pregnancy.
Lactating adenoma
pregnancy adenoma
A breast adenoma that is characterized by apocine differentiation.
breast apocrine adenoma
A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components.
mixed epithelial/mesenchymal metaplastic breast carcinoma
Osteosarcoma Arising in osseous Paget's disease
osteosarcoma arising in bone Paget disease
osteosarcoma arising in bone Paget's disease
Ceruminous adenoma
ceruminoma
A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
chronic gonococcal infectious disease of lower genitourinary tract
chronic gonococcal infectious disease of upper genitourinary tract
gonorrhea
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements
infiltrating bladder urothelial carcinoma sarcomatoid variant
glossopharyngeal motor neuropathy
asymmetric motor neuropathy
A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands.
vulvar eccrine porocarcinoma
Eccrine porocarcinoma of skin
Porocarcinoma
malignant Eccrine Poroma
eccrine porocarcinoma
A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells.
vulvar clear cell hidradenocarcinoma
Intraductal Papillary-mucinous carcinoma of pancreas
pancreatic intraductal papillary-colloid carcinoma
pancreatic foamy gland adenocarcinoma
A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.
Infiltrating carcinoma of breast with Fibrotic Stroma
scirrhous carcinoma of breast
breast scirrhous carcinoma
A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.
Complete transposition
Laterality sequence
situs inversus
situs inversus viscerum
visceral heterotaxy 5
Glottic verrucous carcinoma
verrucous carcinoma of glottis
glottis verrucous carcinoma
verrucous carcinoma of Subglottis
verrucous carcinoma of the subglottis
subglottis verrucous carcinoma
Epidermoid carcinoma of the Subglottis
subglottis squamous cell carcinoma
verrucous carcinoma of Supraglottis
verrucous carcinoma of the supraglottis
supraglottis verrucous carcinoma
Epidermoid carcinoma of the Supraglottis
supraglottis squamous cell carcinoma
A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event.
gestational ovarian choriocarcinoma
asbestos-related lung carcinoma
A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct.
cervical lymphoepithelioma-like carcinoma
Lymphoepithelioma-like carcinoma of the Thymus
lymphoepithelioma-like thymic carcinoma
A gastrointestinal system disease that is located_in the stomach.
Gastropathy
stomach disorder
gastric disease
stomach disease
infiltrating bladder lymphoepithelioma-like carcinoma
A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation.
Intracortical osteosarcoma
Medullary Osteosarcoma
conventional central osteosarcoma
intracortical osteogenic sarcoma
conventional osteosarcoma
Fibroblastic osteosarcoma
Fibrosarcomatous Osteogenic sarcoma
fibrosarcomatous osteosarcoma
Chief cell adenoma of Parathyroid gland
chief cell adenoma
A parathyroid gland benign neoplam that is located_in the parathyroid.
adenoma of the Parathyroid gland
adenoma of parathyroid
parathyroid adenoma
Clear cell adenoma of the Parathyroid
parathyroid transitional clear cell adenoma
mixed cell type adenoma of the Parathyroid gland
mixed cell type adenoma of parathyroid
parathyroid oncocytic adenoma
childhood intracortical osteosarcoma
Meningeal sarcomatosis
sarcomatosis of meninges
sarcomatosis of the meninges
Meningeal sarcoma
sarcoma of meninges
meninges sarcoma
A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
sarcomatosis
An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.
adult ependymoblastoma
adult embryonal tumor with multilayered rosettes, C19MC-altered
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland.
Cowper gland carcinoma
Macular hole
macular holes
suprasellar meningioma
meningioma of Gasserian Ganglion
Gasserian ganglion meningioma
malignant granular cell skin neoplasm
malignant granular cell skin tumour
malignant granular cell tumor of skin
malignant granular cell tumour of skin
malignant granular cell skin tumor
cholangiolocellular carcinoma
acantholytic squamous cell carcinoma of skin
acantholytic squamous cell skin carcinoma
Multiple meningiomas of the Spinal canal and Spinal Cord
multiple spinal canal and spinal cord meningioma
An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type.
pulmonary type ovarian small cell carcinoma
An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.
hypercalcemic type ovarian small cell carcinoma
small-cell carcinoma of the ovary of hypercalcemic type
adult Infiltrating Astrocytic tumor
adult Infiltrating astrocytoma
adult infiltrating astrocytic neoplasm
An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component.
endometrial mixed adenocarcinoma
An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event.
non-gestational ovarian choriocarcinoma
Amyotrophia
Muscle wasting
Wasting - muscle
muscular atrophy
testicular fibroma
testicular thecoma
Inverted papilloma of the Sphenoid sinus
sphenoid sinus inverted papilloma
Schneiderian papilloma of the Sphenoid sinus
sphenoid sinus Schneiderian papilloma
A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
RB - Retinoblastoma
neuroblastoma of Retina
retinoblastoma
adenocarcinoma of the maxillary sinus
adenocarcinoma of maxillary sinus
maxillary sinus adenocarcinoma
pancreatic non-invasive intraductal papillary-mucinous carcinoma
Leptomeningeal sarcoma
sarcoma of Leptomeninges
leptomeninges sarcoma
An autonomic nervous system neoplasm that derives_from immature nerve cells.
neuroblastoma
An aortic aneurysm that is located_in the abdominal aorta.
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
abdominal aortic aneurysm
bladder urachal adenocarcinoma
pancreatic ACTH hormone producing tumour
pancreatic Adrenocorticotropic Hormone Producing tumor
pancreatic Adrenocorticotropic Hormone Producing tumour
pancreatic ACTH hormone producing tumor
non-functioning pancreatic endocrine tumor
Signet Ring cell adenocarcinoma of rectum
rectum signet ring adenocarcinoma
perianal skin Paget disease
perianal skin Paget's disease
A malignant neoplasm that derives_from the retina.
retinal cell cancer
meningioma of the Tuberculum Sellae
tuberculum sellae meningioma
colloid carcinoma of the pancreas
An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
Epileptic seizures, tonic-clonic
Grand Mal epilepsy
tonic-clonic epilepsy
JA:Epilepsy Genetics Kiel
epilepsy with generalized tonic-clonic seizures
pancreatic acinar cell cystadenocarcinoma
acinar cell cystadenocarcinoma
malignant pediatric hemangiopericytoma
childhood malignant hemangiopericytoma
pediatric MPNST
childhood malignant schwannoma
signet ring cell intrahepatic cholangiocarcinoma
mucinous Cystadenoma of pancreas
pancreatic colloid cystadenoma
Lymphoma of retina
Retinal Lymphoma
retina lymphoma
An extraocular retinoblastoma that effects children.
pediatric extraocular retinoblastoma
childhood extraocular retinoblastoma
primary intraocular lymphoma
intraocular lymphoma
A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
adult brain ependymoma
A biliary papillomatosis located_in an extrahepatic bile duct.
extrahepatic biliary papillomatosis
A childhood leukemia that occurs during the neonatal period.
neonatal leukemia
A leukemia that occurs in children.
childhood leukemia
A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.
childhood renal Wilms cancer
pediatric Multilocular cystic renal tumor
benign Multilocular cystic renal tumor
childhood multilocular cystic kidney neoplasm
Supraglottic carcinoma
carcinoma of supraglottis
Subglottic carcinoma
carcinoma of subglottis
subglottis carcinoma
A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect.
delusional disorder
A breast sarcoma that arises from bone.
Osteogenic sarcoma of breast
breast osteosarcoma
adult spinal cord ependymoma
A uterine disease that is located_in the placenta.
placenta disease
Glioblastoma multiforme of spinal cord
adult Spinal Cord Glioblastoma
adult spinal cord glioblastoma multiforme
necrotic Choroid melanoma
choroid necrotic melanoma
An uveal melanoma characterized by the presence of tumor cell necrosis.
necrotic uveal melanoma
mixed astrocytoma-ependymoma-oligodendroglioma
petroclival meningioma
sphenoorbital meningioma
sphenocavernous meningioma
Multifocal Clear cell meningioma of Spine
spinal multifocal clear cell meningioma
chronic toxic polyneuropathy
adult papillary meningioma
An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material.
adult extraosseous osteosarcoma
A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple.
infiltrating nipple syringomatous adenoma
A kidney failure that is characterized by the gradual loss of kidney function.
CKD
CRF
chronic kidney failure
chronic renal disease
chronic renal failure syndrome
renal failure - chronic
chronic kidney disease
pancreatic non-functioning delta cell tumor
An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.
childhood cerebral ependymoblastoma
pediatric cerebral ependymoblastoma
childhood embryonal tumor with multilayered rosettes, C19MC-altered
A breast carcinoma that is manifested in the female breast.
Mammary carcinoma of female breast
carcinoma of female breast
female breast carcinoma
A histiocytic and dendritic cell cancer that effect dendritic cells.
Interdigitating cell sarcoma
interdigitating dendritic cell sarcoma
A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
dendritic cell sarcoma
laryngeal disease
germinoma of the adult central nervous system
adult central nervous system germinoma
Inverted papilloma of the maxillary sinus
maxillary sinus inverted papilloma
adult xanthogranuloma
An atypical polypoid adenomyoma that is located_in the uterine corpus.
uterine corpus atypical polypoid adenomyoma
An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.
leuteoma of pregnancy
luteoma of pregnancy
luteoma
Hypotony of eye
ocular hypotension
An extraskeletal myxoid chondrosarcoma occurring in adults.
adult extraosseous chondrosarcoma
adult myxoid chondrosarcoma
adult myxoid chondrosarcoma Retired NCI concept.
adult extraskeletal myxoid chondrosarcoma
intracranial chondrosarcoma
mixed astrocytoma-ependymoma
A squamous cell carcinoma that is located_in the maxillary sinus.
Epidermoid carcinoma of the Maxillofacial sinus
maxillary sinus squamous cell carcinoma
WHO grade II mixed glioma
mixed oligodendroglioma-astrocytoma
meningioma of the cervical Spinal canal and Spinal Cord
cervical spinal canal and spinal cord meningioma
A mediastinal neurilemmoma characterized by the presence of psammoma bodies.
benign Psammomatous Schwannoma of mediastinum
benign mediastinal psammomatous neurilemmoma
mediastinal psammomatous neurilemmoma
benign Schwannoma of mediastinum
Duplicate disease (NCI).
obsolete benign mediastinal neurilemmoma
Squamoid Thymoma
Thymoma, epithelial
Well differentiated thymic carcinoma
epithelial malignant thymoma
Thymoma, medullary, malignant
malignant type A thymoma
Refractory testicular carcinoma
testis refractory cancer
glandular-alveolar pattern testicular yolk sac tumor
precursor T-lymphoblastic lymphoma/leukemia refractory
refractory T lymphoblastic leukemia/lymphoma
Barrett adenocarcinoma
adenocarcinoma Arising in Barrett's Mucosa
Barrett's adenocarcinoma
A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells.
adult central nervous system mixed germ cell tumor
stroma-dominant and stroma-poor composite ganglioneuroblastoma
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
A nipple carcinoma that is located_in the nipple duct.
nipple duct carcinoma
sarcomatous carcinoma of the penis
sarcomatoid penile squamous cell carcinoma
Gastrinoma of duodenum
duodenal G-cell gastrin producing tumor
malignant duodenal gastrinoma
duodenal gastrinoma
malignant eccrine spiradenoma
malignant spiradenoma
A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present.
cervical non-keratinizing squamous cell carcinoma
An endometrial disease that is caused by tamoxifen exposure.
tamoxifen-related endometrial lesion
lipid-cell variant infiltrating bladder urothelial carcinoma
plasmacytoid variant infiltrating bladder urothelial carcinoma
nested variant infiltrating bladder urothelial carcinoma
microcystic variant infiltrating bladder urothelial carcinoma
lymphoma-like variant infiltrating bladder urothelial carcinoma
A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population.
malignant Eccrine Spiradenoma of the breast
breast malignant eccrine spiradenoma
A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct.
sclerosing breast papilloma
Falcine meningioma
cerebral falx meningioma
A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Varix
Venous ectasia
Venous varices
varices
varicose veins
central nervous system osteosarcoma
familial glomangioma
A thyroid gland disease that is characterized by excess thyroid hormone.
thyrotoxicosis
A thyroid gland disease that involves an over production of thyroid hormone.
overactive thyroid
hyperthyroidism
frontal convexity meningioma
Supraglottic tumor
neoplasm of supraglottis
supraglottis neoplasm
Alveolar adenoma
adenoma of alveoli
adenoma of the alveoli
alveoli adenoma
primary meningioma of the skin
skin meningioma
Pancoast tumour
Pancoast's syndrome
Pancoast's tumour
Superior pulmonary sulcus syndrome
malignant Superior Sulcus tumor
malignant Superior Sulcus tumour
pulmonary sulcus tumor
pulmonary sulcus tumour
Pancoast tumor
penis mixed squamous cell carcinoma
Mature teratoma of Pericardium
benign pericardial teratoma
A papillary carcinoma that is located_in the penis.
squamous carcinoma of penis, Papillary type
penis papillary carcinoma
glomangiomyoma
A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.
liver fibrosarcoma
A myxoid liposarcoma that is located_in the ovary.
Myxoid Liposarcoma of Ovary
myxoid liposarcoma of the ovary
Signet Ring cell adenocarcinoma of the stomach
gastric signet ring cell adenocarcinoma
A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.
sporadic breast cancer
periocular meningioma
Pineal meningioma
pineal region meningioma
An ovarian embryonal carcinoma that occurs in childhood.
pediatric Embryonal carcinoma of Ovary
childhood embryonal carcinoma of the ovary
childhood ovarian embryonal carcinoma
Polyembryoma of testis
testis polyembryoma
A parachordoma arising from the chest wall.
Parachordoma of the Chest Wall
chest wall parachordoma
bladder tubulo-cystic clear cell adenocarcinoma
bladder papillary clear cell adenocarcinoma
meningioma of the Olfactory Groove
olfactory groove meningioma
meningioma of the Pituitary Stalk
pituitary stalk meningioma
Inverted papilloma of the Frontal sinus
frontal sinus inverted papilloma
A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts.
intraductal breast myoepitheliosis
sarcomatous intrahepatic cholangiocarcinoma
childhood central nervous system germinoma
myxomatous pattern testicular yolk sac tumor
cellular congenital mesoblastic nephroma
classic congenital mesoblastic nephroma
Schneiderian papilloma of the maxillary sinus
maxillary sinus Schneiderian papilloma
bladder mixed adenocarcinoma
bladder hepatoid adenocarcinoma
Microfollicular adenoma
fetal adenoma
A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma.
vaginal tubular adenoma
vaginal tubulovillous adenoma
A bile duct cystadenoma located_in an extrahepatic bile duct.
Cystadenoma of the extrahepatic bile duct
extrahepatic bile duct cystadenoma
cellular phase chronic idiopathic myelofibrosis
urethral Fibroepithelial polyp
fibroepithelial polyp of urethra
Nephrogenic adenoma of urethra
nephrogenic adenoma of the urethra
A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
lipodystrophy
periampullary adenocarcinoma
A central nervous system disease that is characterized by neuron inflammation.
neuronitis
A mature teratoma that has_material_basis_in gastric tissue.
Mature teratoma of stomach
mature gastric teratoma
Paget's disease of the anal canal
anal canal Paget disease
Paget's disease of anal canal
anal canal Paget's disease
pseudovascular skin squamous cell carcinoma
An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
Epiphyseal necrosis
apophysitis
epiphysitis
osteochondritis
osteochondritis juvenilis
osteochondrosis
An arthritis that involves infection by a pathogen located_in joint.
infectious arthritis
septic arthritis
A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid.
Columnar Cell Change of the Breast
blunt duct adenosis of breast
breast columnar cell mucinous carcinoma
epiglottic cancer
malignant tumor of Epiglottis
epiglottis cancer
Lymphoma of the gallbladder
gallbladder lymphoma
Clear cell carcinoma of the Thymus
thymus clear cell carcinoma
Thymic Carcinosarcoma
thymus sarcomatoid carcinoma
adrenal gland ganglioneuroblastoma
CLL/SLL with Unmutated IGVH
pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
malignant pediatric germ cell tumor
malignant childhood germ cell neoplasm
pancreatic invasive intraductal papillary-mucinous carcinoma
appendiceal L-cell glucagon-like peptide producing tumour
malignant appendiceal L-cell glucagon-like peptide producing tumor
malignant appendiceal L-cell glucagon-like peptide producing tumour
malignant appendiceal glucagonoma
appendiceal L-cell glucagon-like peptide producing tumor
Fibroosseous Digital Pseudotumor
fibroosseous pseudotumor of digits
A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.
C5 deficiency
complement component 5 deficiency
A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli.
Oncocytic (Hurthle-cell) carcinoma
Thyroid Gland Oncocytic Carcinoma
thyroid gland Hurthle cell carcinoma
oncocytic carcinoma of the thyroid
benign oncocytoma of the thyroid
thyroid Hurthle cell adenoma
malignant melanoma of gallbladder
gallbladder melanoma
interstitial myocarditis
Fibroepithelial polyp of anus
fibroepithelial polyp of the anus
A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle.
endocervical type cervical adenomyoma
A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle.
endometrial type cervical adenomyoma
A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.
cervical atypical polypoid adenomyoma
A gestational choriocarcinoma that is located_in the fallopian tube.
Gestational Choriocarcinoma of the fallopian tube
fallopian tube gestational choriocarcinoma
A choriocarcinoma that is located_in the uterine corpus.
uterine corpus choriocarcinoma
A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.
mediastinitis
papillary pattern testicular yolk sac tumor
hepatoid pattern testicular yolk sac tumor
A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy.
myotonic cataract
An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
Myocardial inflammation
myocarditis
A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems.
late syphilis
tertiary syphilis
meningioma of the Sacral Spinal canal and Spinal Cord
sacral spinal canal and spinal cord meningioma
hilar lung carcinoma
Superior Sulcus carcinoma of the lung
superior sulcus carcinoma of lung
lung superior sulcus carcinoma
A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
fallopian tube cystadenofibroma
Primary Parapharyngeal Meningioma
parapharyngeal meningioma
meningioma of the Upper Clivus
upper clivus meningioma
A male urethral cancer that derives_from the penile urethra.
penile urethral cancer
A breast duct papilloma that is located_in a major duct.
large duct breast papilloma
solitary intraductal breast papilloma
central breast papilloma
microscopic breast papilloma
A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant.
atypical breast papilloma
A biliary papillomatosis located_in an intrahepatic bile duct.
intrahepatic biliary papillomatosis
inflammatory liposarcoma
meningioma of the lower Clivus
lower clivus meningioma
chronic pericementitis
periodontitis
A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents).
Leptomeningeal melanomatosis
meningeal melanomatosis
adult pleomorphic rhabdomyosarcoma
A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.
Rhinitis - chronic
chronic rhinitis
Vulval Fibroepithelial polyp
vulva fibroepithelial polyp
A male urethral cancer that derives_from the bulbomembranous part of the urethra.
bulbomembranous urethral cancer
A female urethral cancer located_in the anterior urethra.
Anterior urethral malignant tumor
anterior urethra cancer
hemangioma of Synovium
synovial angioma
An embryonal testis carcinoma that is located within a tubule.
intratubular embryonal carcinoma
adult epithelioid sarcoma
Clear cell squamous cell carcinoma of skin
clear cell squamous cell skin carcinoma
atypical follicular adenoma
A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.
Infestation by Sarcoptes scabiei
Infestation by Sarcoptes scabiei var hominis
Sarcoptic itch
scabies
A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells.
Stromomyoma
mixed endometrial stromal and smooth muscle tumor
A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers.
Palisaded Myofibroblastoma of the Lymph Node
lymph node palisaded myofibroblastoma
Nonossifying Fibromyxoma
nonossifying fibromyxoid tumor
A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion.
early invasive cervical adenocarcinoma
A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue.
Sclerosing breast Adenosis
sclerosing adenosis of breast
An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
auditory system cancer
perineural angioma
microglandular adenosis of breast
A choriocarcinoma of the ovary that is present during childhood.
childhood ovarian choriocarcinoma
pediatric Choriocarcinoma of Ovary
childhood choriocarcinoma of the ovary
An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
acute appendicitis
acute appendicitis with generalized peritonitis
acute appendicitis with peritoneal abscess
appendicitis
A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores.
villoglandular variant cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation.
intestinal variant cervical mucinous adenocarcinoma
A vascular cancer that is located_in the aorta.
aortic malignant neoplasm
aortic malignant tumor
epithelioid MPNST
malignant epithelioid neoplasm of the peripheral nerve Sheath
epithelioid malignant peripheral nerve sheath tumor
A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
C3 deficiency
complement component 3 deficiency
pseudoglandular variant testicular seminoma
A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.
glassy cell variant cervical adenosquamous carcinoma
enteric pattern testicular yolk sac tumor
A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma.
meningioma, chordoid
chordoid meningioma
adult MPNST
adult malignant schwannoma
tumor of Lumbar Plexus
lumbar plexus neoplasm
reticular pattern testicular yolk sac tumor
adult type testicular granulosa cell tumor
An ischemic bone disease that results_in necrosis located_in epiphysis.
OCD
osteochondritis dissecans
malignant Corneal melanoma
malignant melanoma of cornea
malignant cornea melanoma
A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth.
Meckel diverticulitis
Meckel's diverticulitis
A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter.
microinvasive cervical squamous cell carcinoma
An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
alveolitis
hypersensitivity pneumonitis
extrinsic allergic alveolitis
pediatric renal Angiomyolipoma
childhood kidney angiomyolipoma
Angiomyolipoma of kidney
renal Angiomyolipoma
kidney angiomyolipoma
carcinoma arising in nasal papillomatosis
Infantile fibrosarcoma
congenital fibrosarcoma
Macrofollicular adenoma
colloid adenoma
glandular MPNST
malignant glandular tumor of peripheral nerve sheath
follicular infundibulum tumour
neoplasm of the Follicular Infundibulum
tumor of follicular infundibulum
tumour of follicular infundibulum
follicular infundibulum tumor
malignant Retinal melanoma
retinal melanoma
A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.
Apocrine carcinoma in situ of the breast
breast apocrine carcinoma in situ
physiological polycythemia
A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
Erythrocythemia
polycythemia
thyroid malformation
intestinal obstruction
Ileus of intestine
ileus
paralytic ileus
An intestinal obstruction characterized by abnormal rotation of the intestines.
Twist of intestine, bowel, or colon
Volvulus
familial intestinal malrotation
volvulus of midgut
intestinal volvulus
Intussusception of intestine
Invagination of intestine or colon
intussusception
A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid).
vitamin B6 deficiency syndrome
pyridoxine deficiency anemia
A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
Aicardi syndrome
corneal ulcer
retinoschisis
A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
degeneration of retina
retinal degeneration
A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
Influenza with other manifestations
flu
influenza with non-respiratory manifestation
influenza
Morphea
Scleroderma, circumscribed or localised
Scleroderma, circumscribed or localized
circumscribed scleroderma
localised morphea
localised morphoea
localised scleroderma
localized morphea
localized scleroderma
Whipple's disease
intestinal lipodystrophy
Whipple disease
A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
Actinomycotic madura foot
Actinomycotic mycetema
Actinomycotic mycetoma of foot
Madura foot due to Actinomadura
actinomycotic infection
actinomycetoma
actinomycosis
A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
Inflammatory disorder of joint
arthritis
Rheumatic degeneration of myocardium
Rheumatic fever with myocarditis
Rheumatoid myocarditis
active rheumatic fever with myocarditis
acute rheumatic carditis
acute rheumatic myocarditis
rheumatic myocarditis
Retinal transient arterial occlusion
Transient arterial retinal occlusion
transient retinal arterial occlusion
retinal artery occlusion
A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
polyhydramnios
A retinal disease that is characterized by difficulty or the inability to see in relatively low light.
nyctalopia
night blindness
A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
Updating out dated CUI and removing lung abscess as a synonym.
lung disease
hereditary retinal dystrophy
Retinal Dystrophy
fundus dystrophy
A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous.
impetigo
Dermatosis herpetiformis
Duhring's disease
dermatitis herpetiformis
A pemphigoid that is characterized by large blisters.
bullous pemphigoid
A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.
Bartholin duct cyst
Bartholin's Cyst
Cyst of Bartholin's gland
Cyst of Bartholin's gland duct
Bartholin's duct cyst
A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.
polymyalgia rheumatica
A pharynx cancer that is located_in the hypopharynx.
Hypopharyngeal cancer
malignant Hypopharyngeal tumor
malignant neoplasm of hypopharynx
malignant tumor of hypopharynx
malignant tumour of hypopharynx
hypopharynx cancer
Acid reflux
GERD
GERD - Gastro-esophageal reflux disease
Gastresophageal reflux
Gastro-esophageal reflux
Gastroesophageal reflux
gastroesophageal reflux disease
A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.
Shingles
herpes zona
herpes zoster
histiocytic lymphoma
large-cell Lymphomas
reticulosarcoma
A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
collagen disorder
collagen disease
Sezary disease
Sezary syndrome
Sezary's disease
Hodgkin lymphoma, lymphocyte-rich
Hodgkin lymphoma, lymphocytic-histiocytic predominance
Hodgkin's disease, lymphocyte predominance
Lymphocyte Rich Hodgkin's disease
Hodgkin's lymphoma, lymphocytic-histiocytic predominance
A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.
CFS
Myalgic encephalitis
Myalgic encephalomyelitis
Postviral fatigue syndrome
chronic fatigue syndrome
A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
anesthesia related hyperthermia
malignant hyperpyrexia due to anesthesia
malignant hyperthermia
A pharynx cancer that is located_in the oropharynx.
Oropharyngeal carcinoma
malignant oropharyngeal tumor
malignant tumor of oropharynx
malignant tumour of mesopharynx
oropharyngeal cancer
oropharynx cancer
A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
BTD deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
deficiency of biotinidase
biotinidase deficiency
malignant neoplasm of commissure of lip
malignant neoplasm of external Lip, not specified as upper or lower
malignant neoplasm of labial commissure of lip
malignant neoplasm of lip
malignant neoplasm of lip, external
malignant neoplasm of lip, inner aspect
malignant neoplasm of lip, vermilion border
malignant neoplasm of lower lip, buccal aspect
malignant neoplasm of lower lip, inner aspect
malignant neoplasm of lower lip, mucosa
malignant neoplasm of lower lip, oral aspect
malignant neoplasm of oral aspect of lip, not specified whether upper or lower
malignant neoplasm of other sites of lip
malignant neoplasm of vermilion border of lip
malignant tumor of commissure of lip
malignant tumor of labial mucosa
malignant tumor of lip
malignant tumor of lower labial mucosa
malignant tumor of the Lip
malignant tumour of labial commissure
malignant tumour of lip
lip cancer
A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.
Herpesvirus hominis disease
herpes simplex
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Hodgkin disease
Hodgkin lymphoma
Hodgkin's sarcoma
Hodgkins lymphoma
stage I Subdiaphragmatic Hodgkin Lymphoma
stage II Subdiaphragmatic Hodgkin Lymphoma
Hodgkin's lymphoma
A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
Filatov's disease
Gammaherpesviral mononucleosis
Monocytic angina
Pfeiffer's disease
glandular fever
mononucleosis
infectious mononucleosis
A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
Left-sided ulcerative colitis
ulcerative colitis
malignant tumor of soft palate
malignant tumor of the soft Palate
soft palate cancer
A mature B-cell neoplasm of B-cells found in the germinal center.
Burkitt lymphoma/leukaemia
Burkitt's Lymphoma
Burkitt's tumor
Burkitt's tumor or lymphoma
malignant lymphoma, Burkitt's type
small Non-Cleaved cell Lymphoma, Burkitt's type
Burkitt lymphoma
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Biotin-(propionyl-CoA-carboxylase) ligase deficiency
Multiple carboxylase deficiency - neonatal onset
holocarboxylase synthetase deficiency
acute GIT vascular insuffic.
acute gastrointestinal tract vascular insuffic.
acute intestinal Ischemia
acute intestinal vascular insufficiency
acute vascular insufficiency of intestine
chronic monocytic leukemia
An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash.
Scarlatina
scarlet fever
malignant Gingival tumor
malignant neoplasm of gum
malignant neoplasm of other sites of gum
malignant tumor of gum
malignant tumour of gingiva
gum cancer
A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2) and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes.
Herpetic felon
herpetic whitlow
Induratio penis plastica
Peyronie disease
Peyronie's Fibromatosis
Peyronie's disease
A gastrointestinal system cancer that is located_in the oral cavity.
malignant neoplasm of floor of mouth
oral cavity cancer
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
morbilli
rubeola
measles
Hodgkin lymphoma, lymphocyte depletion
Hodgkin's disease, lymphocytic depletion
Hodgkin's lymphocytic depletion of unspecified site
Lymphocyte-Depleted Classical Hodgkin Lymphoma
Hodgkin's lymphoma, lymphocytic depletion
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
nervous system disease
A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).
Kaposi sarcoma
Kaposi's sarcoma of Heart
Kaposi's sarcoma of anus
Kaposi's sarcoma of central nervous system
Kaposi's sarcoma of conjunctiva
Kaposi's sarcoma of cornea
Kaposi's sarcoma of esophagus
Kaposi's sarcoma of gastrointestinal sites
Kaposi's sarcoma of lung
Kaposi's sarcoma of lymph nodes
Kaposi's sarcoma of palate
Kaposi's sarcoma of penis
Kaposi's sarcoma of skin
Kaposi's sarcoma of soft tissue
Kaposi's sarcoma of soft tissues
Kaposi's sarcoma of the CNS
Kaposi's sarcoma of the gallbladder
Kaposi's sarcoma of the prostate
Kaposi's sarcoma, lung
Kaposi's sarcoma, skin
anal Kaposi's sarcoma
cardiac Kaposi's sarcoma
central nervous system Kaposi's sarcoma
conjunctival Kaposi's sarcoma
corneal Kaposi's sarcoma
cutaneous Kaposi's sarcoma
esophageal Kaposi's sarcoma
gallbladder Kaposi's sarcoma
gastric Kaposi's sarcoma
intestinal Kaposi's sarcoma
lymph node Kaposi's sarcoma
lymphadenopathic Kaposi's sarcoma
palate Kaposi's sarcoma
penis Kaposi's sarcoma
prostate Kaposi's sarcoma
pulmonary Kaposi's sarcoma
soft tissue Kaposi's sarcoma
African lymphadenopathic Kaposi's sarcoma
Kaposi's sarcoma-associated herpesvirus (KSHV)
Kaposi's sarcoma
malignant Uvular tumor
malignant tumor of uvula
uvula cancer
A vein disease that is characterized by inflammation of a vein.
phlebitis
Hemorrhagic duodenitis
duodenitis
malignant neoplasm of tongue
tongue cancer
A vascular disease that is characterized by inflammation of the blood vessels.
Angiitis
vasculitis
Hodgkin's disease, mixed cellularity
Hodgkin's lymphoma, mixed cellularity
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
varicella
chickenpox
malignant Postcricoid tumor
malignant tumor of pharyngoesophageal junction
postcricoid region cancer
A cholesteatoma located_in paranasal sinus.
maxillary sinus cholesteatoma
A disease of mental health that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health.
eating disorder
Alcoholic gastritis, with hemorrhage
Alcoholic gastritis, without mention of hemorrhage
alcoholic gastritis
paraneoplastic polyneuropathy
Chloroma
Extramedullary Myeloid tumor
Granulocytic sarcoma
myeloid sarcoma
A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
Cutaneous carcinoma in situ
carcinoma in situ of skin
skin carcinoma in situ
An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
anorexia nervosa
A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.
cholesteatoma
mycosis fungoides lymphoma
mycosis fungoides
A leukemia that is located_in myeloid tissue.
Non-Lymphocytic Leukemia
leukaemia myelogenous
leukemia myelogenous
myeloid granulocytic leukaemia
myeloid granulocytic leukemia
myeloid leukaemia
myeloid leukemia
A nervous system disease that is located_in nerves or nerve cells.
neuropathy
malignant neoplasm of buccal mucosa
malignant neoplasm of cheek, inner aspect
malignant neoplasm of the Buccal Mucosa
malignant tumor of buccal mucosa
cheek mucosa cancer
A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
Genital herpes simplex
Herpes Genitalis
Virus-Genital Herpes
venereal herpes
genital herpes
This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253).
neurofibromatosis
A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
Decubitus (pressure) ulcer
Decubitus ulcer any site
pressure sores
pressure ulcer
bedsore
decubitus ulcer
A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
in situ carcinoma
A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
Multi Infarct Dementia
multifocal dementia
vascular dementia
A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery.
malignant Carotid body Paraganglioma
malignant carotid body tumor
cancer of carotid body
carotid body cancer
A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.
smallpox
Kraurosis of penis
Penile Leukoplakia
leukoplakia of penis
A pneumonia involving inflammation of the lungs caused by bacteria.
Pneumonia due to other gram-negative bacteria
gram-negative pneumonia
bacterial pneumonia
A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
SKIN SEBORRHEIC
Seborrhoeic dermatitis
Seborrhoeic eczema
seborrhea
seborrheic dermatitis
A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1).
Fifth disease
erythema infectiosum
Giant rugal hypertrophy of stomach
MENETRIER DISEASE
familial giant hypertrophic gastritis
hypertrophic gastritis
hypertrophic gastropathy
gastric mucosal hypertrophy
Tropical pyomyositis
pyomyositis
An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
Megakaryocytic myelosis
Thrombocytic leukaemia
acute megakaryocytic leukemia
An intestinal disease that involves inflammation located_in intestine.
Crohn disease
Crohn's disease of colon
Crohn's disease of large bowel
Granulomatous Colitis
Pediatric Crohn's disease
MESH:C536215 added from NeuroDevNet [WAK].
Crohn's disease
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus (Rubivirus rubellae), 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 rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.
german measles
rubella
An in situ carcinoma that is located_in the trachea.
Tracheal carcinoma In situ
carcinoma in situ of trachea
trachea carcinoma in situ
Angina at rest
Anginal chest pain at rest
Impending infarction
Preinfarction angina
Unstable angina
Worsening angina
intermediate coronary syndrome
A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected.
heterophyes infectious disease
heterophyiasis
A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
helminth infection
helminthiasis
helminthosis
worm infection
parasitic helminthiasis infectious disease
Classical Hodgkin lymphoma, nodular sclerosis
Hodgkin's lymphoma, nodular sclerosis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
Infection by Metagonimus yokogawai
metagonimiasis
A salivary gland cancer that is located_in the sublingual gland.
malignant tumor of sublingual gland
malignant tumor of the Sublingual gland
sublingual gland cancer
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
Fasciola hepatica infection
Infection by Fasciola
Liver flukes
Sheep liver fluke infection
fascioliasis
An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.
lupus
lupus erythematosus
malignant Tonsillar tumor
malignant neoplasm of faucial tonsil
malignant neoplasm of palatine tonsil
malignant neoplasm of tonsil, faucial
malignant tumor of tonsil
tonsil cancer
Congenital Infundibular Stenosis
Infundibular pulmonic stenosis
Infundibular pulmonic stenosis, congenital
Subvalvular pulmonic stenosis
pulmonary infundibular stenosis
pulmonary subvalvular stenosis
SK - Solar keratosis
Senile hyperkeratosis
Solar keratosis
actinic (Solar) Keratosis
actinic keratosis
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.
molluscum contagiosum
A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
Devic's disease
Devic's syndrome
neuromyelitis optica
An in situ carcinoma that is located_in the penis.
Bowen's disease of penis
Penile intraepithelial neoplasia grade III
Queyrat's erythroplasia
carcinoma in situ of penis
grade III squamous Intraepithelial Lesion of penis
penis carcinoma in situ
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.
Infection by Fasciolopsis buski
Infectious Disease by Fasciolopsis
fasciolopsiasis
Acne roscea
Acne, erythematosa
rosacea
retinochoroiditis
chorioretinitis
A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs.
Pityriasis circinata
pityriasis rosea
A skin disease that is characterized by patches of thick red skin and silvery scales.
Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
psoriasis
A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.
PME
progressive myoclonic epilepsy
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
progressive myoclonus epilepsy
A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body.
ringworm
dermatophytosis
A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin.
vaginal Leukoplakia
leukoplakia of vagina
A skin cancer that has_material_basis_in melanocytes.
Cutaneous Malignant Melanoma
cutaneous melanoma
malignant ear melanoma
malignant lip melanoma
malignant lower limb melanoma
malignant melanoma of ear and/or external auricular canal
malignant melanoma of skin of lower limb
malignant melanoma of skin of trunk except scrotum
malignant melanoma of skin of upper limb
malignant neck melanoma
malignant scalp melanoma
malignant trunk melanoma
malignant upper limb melanoma
OMIM IDs, MIM:612263 and MIM:608035 represent susceptibility loci[LS].
skin melanoma
A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
Immune thrombocytopenic purpura
idiopathic thrombocytopenic purpura
primary thrombocytopenic purpura
Ideopath thrombocytopenic pur
Idiopathic purpura
werlhof's disease
autoimmune thrombocytopenic purpura
A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
Academic skill disorder
learning disorder
learning disability
gastric atrophy
atrophic gastritis
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
Cerebral pseudosclerosis
Westphal pseudosclerosis
Westphal-Strumpell syndrome
Wilson's disease
hepatolenticular degeneration
Wilson disease
Evans' syndrome
A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture.
Dupuytren's contracture of foot
Ledderhose's disease
plantar fascial fibromatosis
Retinal abnormality - diabetes-related
diabetic retinopathy
A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
ANEMIA SIDEROBLASTIC
Anemia, hypochromic with iron loading
sideroblastic anemia
A viral infectious disease that results_in persistent infection located_in brain and that has_material_basis_in Measles virus (Morbillivirus hominis) which is immune resistant.
Dawson's encephalitis
Dawson's inclusion body encephalitis
SSPE
Van Bogaert's sclerosing leukoencephalitis
immunosuppressive measles encephalitis
subacute sclerosing leukoencephalopathy
subacute sclerosing panencephalitis
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
ADPKD
Congenital biliary ectasias
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
autosomal dominant polycystic kidney disease
A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Narcolepsy, without cataplexy
paroxysmal sleep
narcolepsy
A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.
Congenital choledochal cyst
bile duct cyst
biliary cyst
choledochal cyst
A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
Osler-Vaquez syndrome
Polycythaemia rubra vera
Proliferative polycythaemia
chronic erythremia
polycythemia vera
A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
cervical disc degenerative disease
intervertebral disc degeneration
lumbar disc degeneration
vertebral disc disease
degenerative disc disease
A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
Cot death
Crib death
SIDS
Sudden death of nonspecific cause in infancy
sudden infant death syndrome
An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
arthritis psoriatica
arthropathic psoriasis
psoriatic arthropathy
psoriatic arthritis
Lymphoma of Liver
liver lymphoma
Leukoplakia of esophagus
esophageal leukoplakia
gastrointestinal lymphoma
A salivary gland cancer that is located_in the parotid gland.
cancer of parotid gland
malignant neoplasm of the Parotid
malignant tumor of parotid gland
parotid cancer
parotid gland cancer
endometrial/uterine polyp
polyp of Endometrium
polyp of the Uterus
polyp, uterus
polyp of corpus uteri
A cervix disease that is characterized by the presence of a hyperkeratotic lesion.
Leukoplakia of cervix
Leukoplakia of cervix uteri
Leukoplakia of the uterine Cervix
uterine cervix leukoplakia
A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
cerebrohepatorenal syndrome
congenital iron overload
Zellweger syndrome
An inherited metabolic disorder that involves peroxisome malfunction.
peroxisomal disorder
peroxisomal disease
A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
Infection by Pityrosporum furfur
pityriasis versicolor
A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
Dermatitis exfoliativa neonatorum
Pemphigus neonatorum
Ritter disease
Scalded skin syndrome
Staphylococcal scalded skin syndrome
Toxic epidermal necrolysis, subcorneal type
Ritter's disease
A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
Post Kala-Azar Dermal Leishmaniasis
Post-kala-azar dermal leishmaniasis
post-kala-azar dermal infectious disease by leishmaniasis
leishmaniasis
Fibroma of the Liver
liver fibroma
Midfacial Necrotising Lesion
malignant granuloma of face
lethal midline granuloma
A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Lupus Erythematosus, systemic
SLE - Lupus Erythematosus, systemic
disseminated lupus erythematosus
systemic lupus erythematosus
An in situ carcinoma that is located_in the anus.
anal carcinoma stage 0
anal intraepithelial neoplasia grade III
carcinoma in situ of anal canal
carcinoma in situ of anus
anal carcinoma in situ
parapsoriasis
Other erythematosquamous dermatosis
erythematosquamous dermatosis
malignant neoplasm of occipital lobe
neoplasm of occipital lobe
tumor of Occipital Lobe
occipital lobe neoplasm
A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Asian Desert Cutaneous Leishmaniasis
Leproid leishmaniasis
diffuse cutaneous leishmaniasis
cutaneous leishmaniasis
A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
donovanosis
pudendal ulcer
granuloma inguinale
A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
AML - acute Myeloid Leukemia
Leukemia, Myelocytic, acute
acute myeloblastic leukaemia
acute myeloblastic leukemia
acute myelogenous leukaemia
acute myelogenous leukemia
acute myeloid leukaemia
acute myeloid leukemia
A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
amyloid disease
amyloidosis has both inherited and acquired subtypes [LS].
amyloidosis
A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
Herpes simplex dermatitis of eyelid
Herpes simplex eyelid dermatitis
Herpes simplex virus dermatitis
herpes simplex dermatitis
herpes simplex virus eyelid dermatitis
eczema herpeticum
A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
atrophic muscular disease
A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
Infection by visceral leishmaniasis
Kala-Azar
visceral leishmaniasis
malignant neoplasm of hard palate
malignant tumor of hard palate
malignant tumour of hard palate
hard palate cancer
A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions.
Alastrim
cottonpox
milkpox
whitepox
variola minor
epithelial hepatic and intrahepatic bile duct neoplasm
liver benign neoplasm
An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Lack of reflex relaxation of lower oesophageal sphincter
achalasia of cardia
achalasia of esophagus
cardiospasm
esophageal achalasia
hypertensive lower esophageal sphincter
achalasia
A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
Wiskott syndrome
Wiskott-Aldrich syndrome
leiomyoma of the Liver
liver leiomyoma
malignant neoplasm of submaxillary gland
malignant tumor of submandibular gland
malignant tumor of the Submandibular gland
submandibular gland cancer
Inflammatory Pseudotumor of the Liver
liver inflammatory pseudotumor
A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
amoebiasis
entamoebiasis
chronic intestinal amebiasis
amebiasis
An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.
pemphigus
A communication disorder that involves difficulty with the act of speech production.
speech disorder
A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
Lichen, ruber planus
lichen ruber planus
lichen planus
An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
Barrett esophagus
Barrett's esophagus with esophagitis
Barrett's oesophagus
Barrett's ulcer of esophagus
Barretts syndrome
ulcerative esophagitis
Barrett's esophagus
A herpes zoster that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
Geniculate herpes zoster
Herpes zoster auricularis
Herpetic geniculate ganglionitis
Ramsay Hunt syndrome type 2
Ramsay Hunt syndrome type II
Ramsey Hunt syndrome
geniculate neuralgia
herpes zoster oticus
nervus intermedius neuralgia
Ramsay Hunt syndrome
A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
Devergie's disease
pityriasis rubra pilaris
A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
primary central sleep apnea
central sleep apnea syndrome
central sleep apnea
malignant neoplasm of pyriform fossa
malignant neoplasm of the Pyriform Fossa
malignant tumor of pyriform fossa
pyriform sinus cancer
A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.
erythermalgia
erythromelalgia
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Alagille-Watson syndrome
Arteriohepatic dysplasia
Alagille syndrome
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
Pallister-Hall syndrome
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
ACLS
SCHINZEL ACROCALLOSAL SYNDROME
Schinzel syndrome 1
acrocallosal syndrome
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
inborn errors of amino acid metabolism
amino acid metabolic disorder
GANT
GIST
Stromal tumor of gastrointestinal tract
Stromal tumour of gastrointestinal tract
gastrointestinal stromal tumour
gastrointestinal stromal tumor
A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
mast-cell leukemia
A large intestine cancer that is located_in the colon and/or located_in the rectum.
colorectal cancer
A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Waardenburg Shah syndrome
Waardenburg's syndrome
van der Hoeve Halbertsona Waardenburg syndrome
Waardenburg, types I and/or II
Waardenburg syndrome
A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
Nasopharyngeal carcinoma
malignant Nasopharyngeal tumor
malignant neoplasm of nasopharynx
nasopharynx cancer
carcinoma of nasopharynx
nasopharynx carcinoma
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
CBS deficiency
cystathionine beta synthase deficiency
cystathionine synthase deficiency
homocystinuria
An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
cystinuria
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
disorder of urea cycle metabolism
urea cycle defect
urea cycle disorder
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
GCE
NKH
Non-ketotic hyperglycinemia
nonketotic hyperglycinemia
glycine encephalopathy
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
Ketoacidaemia
branched chain ketoaciduria
dihydrolipoamide dehydrogenase deficiency
maple syrup urine disease
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Homogentisate 1,2-dioxygenase deficiency
alcaptonuria
deficiency of homogentisicase
alkaptonuria
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
deficiency of citrulline phosphorylase
ornithine transcarbamylase deficiency
ornithine carbamoyltransferase deficiency
An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
ASS deficiency
deficiency of citrulline-aspartate ligase
citrullinemia
An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
hyperlysinemia
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Arginase deficiency
argininemia
deficiency of canavanase
hyperargininemia
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
hyperhomocysteinemia
A urea cycle disorder that involves accumulation of ammonia in the blood.
CPS I deficiency
carbamoyl phosphate synthetase I deficiency disease
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Folling's disease
PKU
maternal phenylketonuria
phenylalaninemia
phenylketonuria
An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
ocular hypertension
A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Mentulagra
priapism
An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
Labium leporinum
cheiloschisis
cleft lip, unilateral, complete
complete unilateral cleft lip
hare lip
cleft lip
A mouth disease located_in the lip.
disease of lips
lip disease
malignant Myocardial tumor
malignant neoplasm of myocardium
tumor of Myocardium
myocardium cancer
A communication disorder that involves the processing of linguistic information.
language disorder
Neurofibroma of Heart
neurofibroma of the heart
Procidentia, rectum
rectal prolapse
A respiratory system benign neoplasm that arises from the nasal cavity.
Benign Nasal Cavity Neoplasm
neoplasm of nasal cavity
tumor of the nasal cavity
nasal cavity benign neoplasm
A ethmoid sinusitis which lasts for 12 weeks or more.
chronic ethmoid sinusitis
chronic ethmoidal sinusitis
ethmoidal sinusitis - chronic
chronic ethmoiditis
A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning.
lymphangitis
A disease by infectious agent that results in infection, has_material_basis_in Viruses.
Viral Infection
Viral disease
virus infection
viral infectious disease
urethral diverticulum
Dissection of carotid artery
carotid artery dissection
A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
diabetes
diabetes mellitus
A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
NIDDM
insulin resistance
non-insulin-dependent diabetes mellitus
type 2 diabetes
type II diabetes mellitus
type 2 diabetes mellitus
A central nervous system disease that is located_in the brain.
encephalopathy
brain disease
An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
Asthma with status asthmaticus
Severe asthma attack
status asthmaticus
keratoconjunctivitis
An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
proptosis
doid/symp duplicate - reviewed 10/2022 & determined to be a symptom
obsolete exophthalmos
A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
acute tracheitis
chronic tracheitis
tracheitis
A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
Croup syndrome
Laryngotracheobronchitis
acute Obstructive Laryngitis
acute laryngotracheobronchitis
croup
A laryngitis which lasts less than a few days.
acute laryngitis
An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
acute epiglottitis
acute epiglottitis and supraglottitis
epiglottitis
A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
Pituitary insufficiency
pituitary hormone deficiency
Pituitary hypofunction
hypopituitarism
acute myocardial infarction
A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.
diabetes insipidus
A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.
Simmond's disease
Simmonds' disease
panhypopituitarism
combined pituitary hormone deficiency
An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
blepharitis
hypertensive encephalopathy
A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
Raised intracranial pressure
intracranial hypertension
chronic cholangitis
A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity.
cervical Muellerian papilloma
cervical Mullerian papilloma
A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium.
squamous papilloma of the Cervix Uteri
cervix squamous papilloma
A bile duct disease that is an inflammation of the bile duct.
cholangitis
A uterine cancer that is located_in the uterine corpus.
corpus uteri cancer
uterine corpus cancer
An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
swimmer's ear
otitis externa
A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
Fong disease
Turner-Kiser syndrome
hereditary onychoostedysplasia
iliac horn syndrome
nail patella syndrome
nail-patella syndrome
A meningitis that has_material_basis_in a bacterial infection.
bacterial meningitis
A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.
meningitis
Postpartum Hypopituitarism
Sheehan's syndrome
Sheehan syndrome
An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
pulmonary artery embolism
pulmonary embolus
pulmonary embolism
An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.
Maternity blues
postnatal depression
postpartum depression
A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum.
Meckel Diverticulum
Persistent vitelline duct
Meckel's diverticulum
dacryoadenitis
An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.
Cryptogenic pulmonary eosinophilia
chronic eosinophilic pneumonia
An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.
Loeffler's pneumonia
Loffler's syndrome
Loeffler syndrome
A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
ethmoidal sinusitis
ethmoiditis
ethmoid sinusitis
A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.
plasma cell leukaemia
plasmacytic leukaemia
plasmacytic leukemia
plasma cell leukemia
A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
Laron-type isolated somatotropin defect
Laron syndrome
A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
latent syphilis
A viral infectious disease that results_in infection, has_material_basis_in Lassa virus (Mammarenavirus lassaense), which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
Lassa fever
A myeloid neoplasm that is located_in the plasma cells in bone marrow.
myeloma
multiple myeloma
vascular skin disease
refractory plasma cell neoplasm
A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm.
indolent myeloma
indolent plasma cell myeloma
An endocrine system disease that is located_in the adrenal gland.
adrenal gland disease
peripheral nerve schwannoma
nasopharyngeal disease
A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
ciliary motility disorder
immotile ciliary syndrome
primary ciliary dyskinesia
A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Polynesian bronchiectasis
bronchiectasis
Heart predominantly in right hemithorax
dextrocardia
A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates.
Neonatal monilia infection
neonatal candida infection
neonatal moniliasis
neonatal candidiasis
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus (Alphavirus venezuelan), which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.
Venezuelan equine fever
Venezuelan equine encephalitis
A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
encephalitis
urethral Stone
urethral calculus
esophagus squamous cell papilloma
An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue.
Krukenberg neoplasm
Krukenberg tumor
Krukenberg carcinoma
A connective tissue disease characterized by inflammation located in the fascia.
fasciitis
proliferative fasciitis
A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness.
Staphylococcal food poisoning
Staphylococcal toxaemia due to food
staphyloenterotoxicosis
staphyloenterotoxemia
esophagus leiomyoma
Atypical Decubital Fibroplasia
ischemic fasciitis
necrotizing fasciitis
Intravascular Pseudosarcomatous Fasciitis
intravascular fasciitis
neurofibroma of the esophagus
neurofibroma
A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
vesico-ureteral reflux
vesicoureteral reflux
kidney hypertrophy
A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
Pelger-Huet anomaly
A mouth disease that is characterized by inflammation of the mouth and lips.
stomatitis
A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
Babesiasis
Infection by babesia
piroplasmosis
babesiosis
pathologic nystagmus
A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
Aphtha
Aphthous ulceration
Canker sore
Oral aphthae
oral ulcer
Oral aphthous ulcer
aphthous stomatitis
A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
abruptio placenta
abruptio placentae
placental abruption
A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.
senile cataract
Cancrum oris
Gangrenous stomatitis
noma
ulcerative stomatitis
A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.
cervical incompetence
A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus (Orthoflavivirus flavi), which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
Sylvatic yellow fever
Yellow fever, sylvan
jungle yellow fever
urban yellow fever
yellow fever
A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.
Gonococcal conjunctivitis
Gonococcal ophthalmia neonatorum
Neonatal conjunctivitis
ophthalmia neonatorum
Purulent conjunctivitis
bacterial conjunctivitis
tendinitis
Obstruction of gallbladder
occlusion of gallbladder
vitreous detachment
An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
Tuberculosis of kidney
renal tuberculosis
diabetic neuropathy
A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
IDDM
insulin-dependent diabetes mellitus
type I diabetes mellitus
type 1 diabetes mellitus
A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum.
hemorrhoidal disease
hemorrhoid
A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall.
Gaseous pericholecystitis
emphysematous cholecystitis
A cholecystitis characterized by nodules containing lipid-laden macrophages.
xanthogranulomatous cholecystitis
An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
IBD
Irritable colon
Psychogenic IBS
irritable bowel syndrome
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.
Trichinella spiralis infection
trichinosis
Interstitial myositis
myositis fibrosa
A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.
Infection by Toxascaris
Toxocara infection
visceral larva migrans
toxocariasis
An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
anti-GBM disease
anti-glomerular basement membrane disease
Goodpasture syndrome
A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers.
hypersensitivity vasculitis
A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.
polyarteritis nodosa
progressive Choroidal Atrophy
choroideremia
A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
Drug withdrawal syndrome in newborn
neonatal abstinence syndrome
refractive error
hypertropia
A strabismus that is characterized the eye which turns inward toward the nose.
Convergence in manifest squint
Internal Strabismus
crossed eyes
esotropia
hypotropia
A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Meniere disease
Mnire's vertigo
Otogenic vertigo
Meniere's disease
A syphilis that results_in a multisystem infection in the fetus via the placenta.
congenital syphilis
An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
Disseminated tuberculosis
Tuberculosis miliaris disseminata
acute miliary tuberculosis
generalized tuberculosis
miliary tuberculosis
intestinal disaccharidase deficiency
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
Fructosaemia
Fructose-1,6-bisphosphate aldolase B deficiency
Fructosemia
hereditary fructose intolerance syndrome
A hypotrichosis that is characterized by a loss of hair from the head or body.
alopecia
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Galactosaemia
Galactose intolerance
galactosemia
A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
Barlow's syndrome
floppy mitral valve
mitral leaflet syndrome
myxomatous mitral valve prolapse
systolic click-murmur syndrome
mitral valve prolapse
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
muscular dystrophy
A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.
Chalazion
meibomian gland lipogranuloma
meibomian cyst
Alopecia mucinosa
follicular mucinosis
An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
Boil of eyelid
Furuncle of eyelid
Hordeolum externum
Stye
hordeolum
A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
developmental coordination disorder
An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
Meningococcal hemorrhagic adrenalitis
Waterhouse-Friderichsen syndrome
An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge.
dacryocystitis
lacrimal mucocele
dacryocystocele
lymph node disease
A acute leukemia that is characterized by over production of lymphoblasts.
ALL
acute lymphoblastic leukaemia
acute lymphocytic leukaemia
precursor lymphoblastic lymphoma/leukemia
acute lymphoblastic leukemia
An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.
mixed phenotype acute leukemia
acute biphenotypic leukemia
A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
hypoplastic left heart syndrome
A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
disseminated toxoplasmosis
toxoplasmosis
An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.
hypercarotinemia
carotenemia
An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
obesity
A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
substance dependence
A drug dependence that is a psychological dependency on the regular use of cocaine.
cocaine dependence
An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
heroin dependence
A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
hallucinogen dependence
An orbital cancer that has_material_basis_in some lymphocyte.
Lymphoma of the orbit
orbit lymphoma
An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm.
orbital sarcoma
orbit sarcoma
A tertiary syphilis that results in infection located in brain or located in spinal cord.
late neurosyphilis
tertiary neurosyphilis
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
Hypoglycaemia
hypoglycemia
A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.
antepartum peripartum cardiomyopathy
postpartum peripartum cardiomyopathy
peripartum cardiomyopathy