___ ___ ___ /\__\ /\__\ /\ \ /:/ _/_ /:/ _/_ /::\ \ /:/ /\__\ /:/ /\__\ /:/\:\ \ /:/ /:/ _/_ /:/ /:/ / /:/ \:\ \ /:/_/:/ /\__\ /:/_/:/ / /:/__/ \:\__\ \:\/:/ /:/ / \:\/:/ / \:\ \ /:/ / \::/_/:/ / \::/__/ \:\ /:/ / \:\/:/ / \:\ \ \:\/:/ / \::/ / \:\__\ \::/ / \/__/ \/__/ \/__/ EFO - Release Notes Experimental Factor Ontology version 3.87.0 Date Released: 16th February 2026 Class Count: 90,548 Summary: EFO 3.86.0 contains terms to cater for users, such as the GWAS Catalog, Open Targets, and more. Number of classes changed: 23 Number of classes added: 177 Number of classes deleted: 1 ---------------------------------- 1. Changes to URIs 2. Changes to EFO 3. Obsolete Classes in EFO 4. Scope of the Ontology 5. External Ontology and Resource Mapping List 6. Known OWL to OBO Conversion Issues 7. Contact Details ---------------------------------- 1. Changes to URIs @Classes new to this version Class: http://purl.obolibrary.org/obo/MONDO_0850340 Label(s): supratentorial ependymoma + 'supratentorial ependymoma' SubClassOf 'anaplastic ependymoma' Class: http://purl.obolibrary.org/obo/MONDO_0850339 Label(s): posterior fossa ependymoma + 'posterior fossa ependymoma' SubClassOf 'anaplastic ependymoma' Class: http://purl.obolibrary.org/obo/MONDO_0850335 Label(s): IDH-wildtype glioblastoma + 'IDH-wildtype glioblastoma' SubClassOf 'glioblastoma multiforme' Class: http://purl.obolibrary.org/obo/MONDO_0850332 Label(s): IDH-mutant anaplastic astrocytoma + 'IDH-mutant anaplastic astrocytoma' SubClassOf 'anaplastic astrocytoma' Class: http://purl.obolibrary.org/obo/MONDO_0858959 Label(s): polymorphous low grade neuroepithelial tumor of the young + 'polymorphous low grade neuroepithelial tumor of the young' SubClassOf 'central nervous system organ benign neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0858944 Label(s): myxoid glioneuronal tumor + 'myxoid glioneuronal tumor' SubClassOf 'central nervous system organ benign neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0003389 Label(s): epithelial-myoepithelial carcinoma + 'epithelial-myoepithelial carcinoma' SubClassOf 'carcinoma' Class: http://purl.obolibrary.org/obo/MONDO_0003325 Label(s): nodular ganglioneuroblastoma + 'nodular ganglioneuroblastoma' SubClassOf 'ganglioneuroblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0850198 Label(s): medulloblastoma non-WNT/non-SHH + 'medulloblastoma non-WNT/non-SHH' SubClassOf 'medulloblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0003096 Label(s): deep hemangioma + 'deep hemangioma' SubClassOf 'hemangioma' Class: http://purl.obolibrary.org/obo/MONDO_0003088 Label(s): intramuscular hemangioma + 'intramuscular hemangioma' SubClassOf 'deep hemangioma' Class: http://purl.obolibrary.org/obo/MONDO_0007385 Label(s): idiopathic spontaneous coronary artery dissection + 'idiopathic spontaneous coronary artery dissection' SubClassOf 'idiopathic disease' + 'idiopathic spontaneous coronary artery dissection' SubClassOf 'vascular disease' Class: http://purl.obolibrary.org/obo/MONDO_0007365 Label(s): seizures, benign familial neonatal, 1 + 'seizures, benign familial neonatal, 1' SubClassOf 'benign neonatal seizures' Class: http://purl.obolibrary.org/obo/MONDO_0978301 Label(s): neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures + 'neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0007060 Label(s): spermatogenic failure 6 + 'spermatogenic failure 6' SubClassOf 'azoospermia' + 'spermatogenic failure 6' SubClassOf 'male infertility due to globozoospermia' Class: http://purl.obolibrary.org/obo/MONDO_0958119 Label(s): embryonal tumor with multilayered rosettes + 'embryonal tumor with multilayered rosettes' SubClassOf 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' Class: http://purl.obolibrary.org/obo/HP_0006879 Label(s): Pontocerebellar atrophy + 'Pontocerebellar atrophy' SubClassOf 'Abnormal brainstem morphology' + 'Pontocerebellar atrophy' SubClassOf 'Cerebellar atrophy' Class: http://purl.obolibrary.org/obo/MONDO_0010762 Label(s): lymphoma, Hodgkin, Y-linked pseudoautosomal + 'lymphoma, Hodgkin, Y-linked pseudoautosomal' SubClassOf 'Hodgkins lymphoma' Class: http://purl.obolibrary.org/obo/MONDO_0850101 Label(s): spitzoid melanoma + 'spitzoid melanoma' SubClassOf 'cutaneous melanoma' Class: http://purl.obolibrary.org/obo/MONDO_0850196 Label(s): medulloblastoma WNT activated + 'medulloblastoma WNT activated' SubClassOf 'medulloblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0850197 Label(s): medulloblastoma SHH activated + 'medulloblastoma SHH activated' SubClassOf 'medulloblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0978302 Label(s): spermatogenic failure 100 + 'spermatogenic failure 100' SubClassOf 'azoospermia' Class: http://purl.obolibrary.org/obo/MONDO_0014867 Label(s): spinocerebellar ataxia 43 + 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' Class: http://purl.obolibrary.org/obo/MONDO_0014866 Label(s): Charcot-Marie-Tooth disease axonal type 2T + 'Charcot-Marie-Tooth disease axonal type 2T' SubClassOf 'Charcot-Marie-Tooth disease type 2' Class: http://purl.obolibrary.org/obo/MONDO_0014614 Label(s): congenital stationary night blindness 1G + 'congenital stationary night blindness 1G' SubClassOf 'congenital nervous system disorder' + 'congenital stationary night blindness 1G' SubClassOf 'congenital stationary night blindness' + 'congenital stationary night blindness 1G' SubClassOf 'autosomal recessive disease' Class: http://purl.obolibrary.org/obo/MONDO_0014571 Label(s): optic atrophy 9 + 'optic atrophy 9' SubClassOf 'ACO2-related optic atrophy with or without extraocular features' Class: http://purl.obolibrary.org/obo/MONDO_0014531 Label(s): amyotrophic lateral sclerosis type 22 + 'amyotrophic lateral sclerosis type 22' SubClassOf 'familial amyotrophic lateral sclerosis' Class: http://purl.obolibrary.org/obo/HP_0033528 Label(s): Abnormal cardiac output + 'Abnormal cardiac output' SubClassOf 'Abnormality of blood circulation' Class: http://purl.obolibrary.org/obo/CHEBI_30813 Label(s): decanoic acid + 'decanoic acid' SubClassOf 'fatty acid' Class: http://purl.obolibrary.org/obo/MONDO_0979240 Label(s): cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome + 'cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome' SubClassOf 'genetic disorder' + 'cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome' SubClassOf 'syndromic disease' Class: http://purl.obolibrary.org/obo/MONDO_0850066 Label(s): SAMD9L-associated autoinflammatory syndrome + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' Class: http://purl.obolibrary.org/obo/MONDO_1010177 Label(s): IKZF2-related combined immunodeficiency + 'IKZF2-related combined immunodeficiency' SubClassOf 'combined immunodeficiency syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0002787 Label(s): adamantinous craniopharyngioma + 'adamantinous craniopharyngioma' SubClassOf 'Craniopharyngioma' Class: http://purl.obolibrary.org/obo/MONDO_0978293 Label(s): Houge-Janssens syndrome 4 + 'Houge-Janssens syndrome 4' SubClassOf 'Houge-Janssens syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0978294 Label(s): LSM7-related leukodystrophy and cerebellar atrophy + 'LSM7-related leukodystrophy and cerebellar atrophy' SubClassOf 'hereditary neurological disease' Class: http://purl.obolibrary.org/obo/MONDO_0978295 Label(s): craniofaciocardiohepatic syndrome + 'craniofaciocardiohepatic syndrome' SubClassOf 'syndromic disease' + 'craniofaciocardiohepatic syndrome' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0978296 Label(s): FICUS syndrome + 'FICUS syndrome' SubClassOf 'syndromic disease' + 'FICUS syndrome' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0978299 Label(s): maturity-onset diabetes of the young, type 12 + 'maturity-onset diabetes of the young, type 12' SubClassOf 'maturity-onset diabetes of the young' Class: http://purl.obolibrary.org/obo/MONDO_0978300 Label(s): neurodevelopmental disorder with ataxia and brain abnormalities + 'neurodevelopmental disorder with ataxia and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0978303 Label(s): Li-Takada-Miyake syndrome + 'Li-Takada-Miyake syndrome' SubClassOf 'syndromic disease' + 'Li-Takada-Miyake syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0002696 Label(s): Sertoli cell tumor + 'Sertoli cell tumor' SubClassOf 'sex cord-stromal tumor' Class: http://purl.obolibrary.org/obo/MONDO_0014107 Label(s): hypogonadotropic hypogonadism 21 with or without anosmia + 'hypogonadotropic hypogonadism 21 with or without anosmia' SubClassOf 'Kallmann syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0014045 Label(s): Cowden syndrome 3 + 'Cowden syndrome 3' SubClassOf 'Cowden disease' Class: http://purl.obolibrary.org/obo/MONDO_0859597 Label(s): cns neuroblastoma with FOXR2 activation + 'cns neuroblastoma with FOXR2 activation' SubClassOf 'cerebral neuroblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0957197 Label(s): diffuse glioma, H3 G34 mutant + 'diffuse glioma, H3 G34 mutant' SubClassOf 'glioma' Class: http://purl.obolibrary.org/obo/MONDO_0003864 Label(s): chronic lymphocytic leukemia/small lymphocytic lymphoma + 'chronic lymphocytic leukemia/small lymphocytic lymphoma' SubClassOf 'chronic lymphocytic leukemia' Class: http://purl.obolibrary.org/obo/MONDO_0700076 Label(s): glutaric acidemia IIc + 'glutaric acidemia IIc' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' Class: http://purl.obolibrary.org/obo/MONDO_1060190 Label(s): APP-related brain and vascular amyloidosis + 'APP-related brain and vascular amyloidosis' SubClassOf 'cerebrovascular disorder' + 'APP-related brain and vascular amyloidosis' SubClassOf 'hereditary amyloidosis' + 'APP-related brain and vascular amyloidosis' SubClassOf 'inherited neurodegenerative disorder' Class: http://purl.obolibrary.org/obo/MONDO_0100584 Label(s): SNUPN-related muscular dystrophy with or without multi-system involvement + 'SNUPN-related muscular dystrophy with or without multi-system involvement' SubClassOf 'congenital muscular dystrophy' Class: http://purl.obolibrary.org/obo/MONDO_0013690 Label(s): Pitt-Hopkins-like syndrome 2 + 'Pitt-Hopkins-like syndrome 2' SubClassOf 'genetic disorder' + 'Pitt-Hopkins-like syndrome 2' SubClassOf 'Pitt-Hopkins-like syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0800441 Label(s): NKX2.5-related congenital, conduction and myopathic heart disease + 'NKX2.5-related congenital, conduction and myopathic heart disease' SubClassOf 'familial cardiomyopathy' + 'NKX2.5-related congenital, conduction and myopathic heart disease' SubClassOf 'heart conduction disease' Class: http://purl.obolibrary.org/obo/MONDO_0800464 Label(s): SQSTM1-related multisystem proteinopathy + 'SQSTM1-related multisystem proteinopathy' SubClassOf 'inborn errors of metabolism' + 'SQSTM1-related multisystem proteinopathy' SubClassOf 'proteostasis deficiencies' Class: http://purl.obolibrary.org/obo/MONDO_0013597 Label(s): platelet-type bleeding disorder 14 + 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' + 'platelet-type bleeding disorder 14' SubClassOf 'inherited blood coagulation disorder' Class: http://purl.obolibrary.org/obo/MONDO_0013509 Label(s): intellectual disability, autosomal dominant 6 + 'intellectual disability, autosomal dominant 6' SubClassOf 'GRIN2B-related complex neurodevelopmental disorder' + 'intellectual disability, autosomal dominant 6' SubClassOf 'intellectual disability, autosomal dominant' Class: http://purl.obolibrary.org/obo/MONDO_0013470 Label(s): generalized epilepsy with febrile seizures plus, type 7 + 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' Class: http://purl.obolibrary.org/obo/MONDO_0013253 Label(s): breast-ovarian cancer, familial, susceptibility to, 3 + 'breast-ovarian cancer, familial, susceptibility to, 3' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' + 'breast-ovarian cancer, familial, susceptibility to, 3' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' Class: http://purl.obolibrary.org/obo/MONDO_1060191 Label(s): ciliopathy-IFT74 + 'ciliopathy-IFT74' SubClassOf 'ciliopathy' Class: http://purl.obolibrary.org/obo/MONDO_1060185 Label(s): systemic lupus erythematosus 18 + 'systemic lupus erythematosus 18' SubClassOf 'systemic lupus erythematosus' + 'systemic lupus erythematosus 18' SubClassOf 'hereditary disorder of connective tissue' Class: http://www.ebi.ac.uk/efo/EFO_0022988 Label(s): Parkinson disease 6 + 'Parkinson disease 6' SubClassOf 'Parkinson disease' Class: http://www.ebi.ac.uk/efo/EFO_0022987 Label(s): adiponectin deficiency + 'adiponectin deficiency' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_1060179 Label(s): RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity + 'RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0013104 Label(s): basal cell carcinoma, susceptibility to, 4 + 'basal cell carcinoma, susceptibility to, 4' SubClassOf 'basal cell carcinoma, susceptibility to' Class: http://purl.obolibrary.org/obo/MONDO_0978297 Label(s): spermatogenic failure 99 + 'spermatogenic failure 99' SubClassOf 'azoospermia' Class: http://purl.obolibrary.org/obo/MONDO_0979570 Label(s): immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy + 'immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy' SubClassOf 'immunodeficiency disease' Class: http://purl.obolibrary.org/obo/MONDO_0956990 Label(s): supratentorial ependymoma, ZFTA fusion–positive + 'supratentorial ependymoma, ZFTA fusion–positive' SubClassOf 'supratentorial ependymoma' Class: http://purl.obolibrary.org/obo/MONDO_0956964 Label(s): medulloblastoma SHH activated and TP53 mutant + 'medulloblastoma SHH activated and TP53 mutant' SubClassOf 'medulloblastoma SHH activated' Class: http://www.ebi.ac.uk/efo/EFO_0022984 Label(s): bilateral breast cancer + 'bilateral breast cancer' SubClassOf 'breast cancer' Class: http://purl.obolibrary.org/obo/MONDO_0971094 Label(s): cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation + 'cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation' SubClassOf 'polyvalvular heart disease syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0020813 Label(s): benign testicular sertoli cell tumor + 'benign testicular sertoli cell tumor' SubClassOf 'benign sertoli cell tumor' + 'benign testicular sertoli cell tumor' SubClassOf 'testicular sertoli cell tumor' + 'benign testicular sertoli cell tumor' SubClassOf 'benign neoplasm of testis' Class: http://purl.obolibrary.org/obo/HP_0012743 Label(s): Abdominal obesity + 'Abdominal obesity' SubClassOf 'Obesity' Class: http://purl.obolibrary.org/obo/HP_0012732 Label(s): Anorectal anomaly + 'Anorectal anomaly' SubClassOf 'Abnormal gastrointestinal tract morphology' Class: http://purl.obolibrary.org/obo/UBERON_0000081 Label(s): metanephros + 'metanephros' SubClassOf 'kidney' Class: http://purl.obolibrary.org/obo/HP_0000973 Label(s): Cutis laxa + 'Cutis laxa' SubClassOf 'Abnormally lax or hyperextensible skin' Class: http://purl.obolibrary.org/obo/MONDO_0011233 Label(s): Axenfeld-Rieger syndrome type 3 + 'Axenfeld-Rieger syndrome type 3' SubClassOf 'Axenfeld-Rieger syndrome' + 'Axenfeld-Rieger syndrome type 3' SubClassOf 'FOXC1-related anterior segment dysgenesis' Class: http://purl.obolibrary.org/obo/MONDO_0009433 Label(s): hypoplastic left heart syndrome 1 + 'hypoplastic left heart syndrome 1' SubClassOf 'hypoplastic left heart syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0979245 Label(s): neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities + 'neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_1040014 Label(s): PPFIA3-related neurodevelopmental disorder + 'PPFIA3-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0020809 Label(s): benign sertoli cell tumor + 'benign sertoli cell tumor' SubClassOf 'Sertoli cell tumor' + 'benign sertoli cell tumor' SubClassOf 'sex cord-stromal benign neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0020808 Label(s): testicular sertoli cell tumor + 'testicular sertoli cell tumor' SubClassOf 'Sertoli cell tumor' + 'testicular sertoli cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0020754 Label(s): visceral myopathy 1 + 'visceral myopathy 1' SubClassOf 'familial visceral myopathy' Class: http://purl.obolibrary.org/obo/MONDO_0020697 Label(s): lung epithelial-myoepithelial carcinoma + 'lung epithelial-myoepithelial carcinoma' SubClassOf 'epithelial-myoepithelial carcinoma' + 'lung epithelial-myoepithelial carcinoma' EquivalentTo 'epithelial-myoepithelial carcinoma' and ('disease has location' some 'lung') + 'lung epithelial-myoepithelial carcinoma' SubClassOf 'lung carcinoma' Class: http://purl.obolibrary.org/obo/MONDO_0020694 Label(s): salivary gland epithelial myoepithelial carcinoma + 'salivary gland epithelial myoepithelial carcinoma' EquivalentTo 'epithelial-myoepithelial carcinoma' and ('disease has location' some 'saliva-secreting gland') + 'salivary gland epithelial myoepithelial carcinoma' SubClassOf 'salivary gland carcinoma' + 'salivary gland epithelial myoepithelial carcinoma' SubClassOf 'epithelial-myoepithelial carcinoma' Class: http://purl.obolibrary.org/obo/HP_0500015 Label(s): Abnormal cardiac test + 'Abnormal cardiac test' SubClassOf 'Abnormality of the cardiovascular system' Class: http://purl.obolibrary.org/obo/MONDO_0011151 Label(s): exudative vitreoretinopathy 4 + 'exudative vitreoretinopathy 4' SubClassOf 'LRP5-related exudative vitreoretinopathy' Class: http://purl.obolibrary.org/obo/MONDO_0013248 Label(s): Fanconi anemia complementation group O + 'Fanconi anemia complementation group O' SubClassOf 'Fanconi anemia' Class: http://purl.obolibrary.org/obo/MONDO_0024527 Label(s): glomerulopathy with fibronectin deposits 1 + 'glomerulopathy with fibronectin deposits 1' SubClassOf 'fibronectin glomerulopathy' Class: http://purl.obolibrary.org/obo/MONDO_0013356 Label(s): vesicoureteral reflux 3 + 'vesicoureteral reflux 3' SubClassOf 'familial vesicoureteral reflux' Class: http://purl.obolibrary.org/obo/HP_0006480 Label(s): Premature loss of teeth + 'Premature loss of teeth' SubClassOf 'Abnormality of the dentition' Class: http://purl.obolibrary.org/obo/MONDO_0012760 Label(s): epilepsy, idiopathic generalized, susceptibility to, 5 + 'epilepsy, idiopathic generalized, susceptibility to, 5' SubClassOf 'inherited disease susceptibility' + 'epilepsy, idiopathic generalized, susceptibility to, 5' SubClassOf 'predisposes towards' some 'generalised epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0979883 Label(s): cranioectodermal dysplasia 6 + 'cranioectodermal dysplasia 6' SubClassOf 'cranioectodermal dysplasia' Class: http://purl.obolibrary.org/obo/MONDO_0979880 Label(s): brain small vessel disease 5 with osteoporosis + 'brain small vessel disease 5 with osteoporosis' SubClassOf 'familial porencephaly' Class: http://purl.obolibrary.org/obo/MONDO_0979876 Label(s): Wilms tumor 7 + 'Wilms tumor 7' SubClassOf 'hereditary Wilms tumor' Class: http://purl.obolibrary.org/obo/MONDO_0979875 Label(s): neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima + 'neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0979872 Label(s): developmental dysplasia of the hip 4 + 'developmental dysplasia of the hip 4' SubClassOf 'developmental dysplasia of the hip' Class: http://purl.obolibrary.org/obo/MONDO_0979865 Label(s): Popov-Chang syndrome + 'Popov-Chang syndrome' SubClassOf 'Neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0971171 Label(s): muscular dystrophy, limb-girdle, autosomal recessive 29 + 'muscular dystrophy, limb-girdle, autosomal recessive 29' SubClassOf 'SNUPN-related muscular dystrophy with or without multi-system involvement' + 'muscular dystrophy, limb-girdle, autosomal recessive 29' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' Class: http://www.ebi.ac.uk/efo/EFO_0022982 Label(s): peak aortic velocity + 'peak aortic velocity' SubClassOf 'heart function attribute' Class: http://www.ebi.ac.uk/efo/EFO_0022983 Label(s): nucleated red blood cell count + 'nucleated red blood cell count' SubClassOf 'nucleated cell count' Class: http://www.ebi.ac.uk/efo/EFO_0022985 Label(s): neonatal encephalopathy + 'neonatal encephalopathy' SubClassOf 'Encephalopathy' Class: http://www.ebi.ac.uk/efo/EFO_0022986 Label(s): rare venous malformation + 'rare venous malformation' SubClassOf 'Venous malformation' Class: http://purl.obolibrary.org/obo/MONDO_0956965 Label(s): medulloblastoma SHH activated and TP53 wild-type + 'medulloblastoma SHH activated and TP53 wild-type' SubClassOf 'medulloblastoma SHH activated' Class: http://purl.obolibrary.org/obo/MONDO_0956966 Label(s): medulloblastoma non-WNT/non-SHH group 3 + 'medulloblastoma non-WNT/non-SHH group 3' SubClassOf 'medulloblastoma non-WNT/non-SHH' Class: http://purl.obolibrary.org/obo/MONDO_0956967 Label(s): medulloblastoma non-WNT/non-SHH group 4 + 'medulloblastoma non-WNT/non-SHH group 4' SubClassOf 'medulloblastoma non-WNT/non-SHH' Class: http://purl.obolibrary.org/obo/MONDO_0956992 Label(s): posterior fossa group A ependymoma + 'posterior fossa group A ependymoma' SubClassOf 'posterior fossa ependymoma' Class: http://purl.obolibrary.org/obo/MONDO_0956993 Label(s): posterior fossa group B ependymoma + 'posterior fossa group B ependymoma' SubClassOf 'posterior fossa ependymoma' Class: http://purl.obolibrary.org/obo/MONDO_0979575 Label(s): intellectual developmental disorder, autosomal dominant 76 + 'intellectual developmental disorder, autosomal dominant 76' SubClassOf 'intellectual disability, autosomal dominant' Class: http://purl.obolibrary.org/obo/MONDO_0979574 Label(s): retinitis pigmentosa 100 + 'retinitis pigmentosa 100' SubClassOf 'retinitis pigmentosa' Class: http://purl.obolibrary.org/obo/MONDO_0979573 Label(s): cardiomyopathy, familial hypertrophic, 31 + 'cardiomyopathy, familial hypertrophic, 31' SubClassOf 'familial hypertrophic cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0979572 Label(s): spermatogenic failure 101 + 'spermatogenic failure 101' SubClassOf 'azoospermia' Class: http://purl.obolibrary.org/obo/MONDO_0979571 Label(s): exudative vitreoretinopathy 8 + 'exudative vitreoretinopathy 8' SubClassOf 'exudative vitreoretinopathy' Class: http://purl.obolibrary.org/obo/MONDO_0012341 Label(s): celiac disease, susceptibility to, 3 + 'celiac disease, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' + 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' Class: http://purl.obolibrary.org/obo/MONDO_0016686 Label(s): diffuse astrocytoma + 'diffuse astrocytoma' SubClassOf 'low-grade astrocytoma' + 'diffuse astrocytoma' SubClassOf 'grade II glioma' Class: http://purl.obolibrary.org/obo/MONDO_0016682 Label(s): giant cell glioblastoma + 'giant cell glioblastoma' SubClassOf 'brain glioblastoma' Class: http://purl.obolibrary.org/obo/HP_0008197 Label(s): Absence of pubertal development + 'Absence of pubertal development' SubClassOf 'Abnormality of the endocrine system' Class: http://purl.obolibrary.org/obo/HP_0001905 Label(s): Congenital thrombocytopenia + 'Congenital thrombocytopenia' SubClassOf 'Thrombocytopenia' Class: http://purl.obolibrary.org/obo/MONDO_0979246 Label(s): Nil-Deshwar neurodevelopmental syndrome + 'Nil-Deshwar neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0979241 Label(s): fanconi anemia, complementation group 10 + 'fanconi anemia, complementation group 10' SubClassOf 'Fanconi anemia' Class: http://purl.obolibrary.org/obo/MONDO_0979239 Label(s): cardiomyopathy, dilated, 1QQ + 'cardiomyopathy, dilated, 1QQ' SubClassOf 'familial dilated cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0979238 Label(s): developmental and epileptic encephalopathy 118 + 'developmental and epileptic encephalopathy 118' SubClassOf 'genetic developmental and epileptic encephalopathy' Class: http://purl.obolibrary.org/obo/MONDO_0979237 Label(s): pulmonary hypertension, primary, 7 + 'pulmonary hypertension, primary, 7' SubClassOf 'heritable pulmonary arterial hypertension' Class: http://purl.obolibrary.org/obo/MONDO_0979236 Label(s): cardiomyopathy, dilated, 2l + 'cardiomyopathy, dilated, 2l' SubClassOf 'familial dilated cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0979231 Label(s): oocyte/zygote/embryo maturation arrest 23 + 'oocyte/zygote/embryo maturation arrest 23' SubClassOf 'inherited oocyte maturation defect' Class: http://purl.obolibrary.org/obo/MONDO_0979228 Label(s): ectodermal dysplasia 17 with or without limb malformations + 'ectodermal dysplasia 17 with or without limb malformations' SubClassOf 'ectodermal dysplasia syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0979227 Label(s): Guillouet-Gordon syndrome + 'Guillouet-Gordon syndrome' SubClassOf 'genetic disorder' + 'Guillouet-Gordon syndrome' SubClassOf 'syndromic disease' Class: http://purl.obolibrary.org/obo/MONDO_0100583 Label(s): Jeune syndrome - GRK2-related + 'Jeune syndrome - GRK2-related' SubClassOf 'Jeune syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0100557 Label(s): RBFOX2-related congenital heart disorder + 'RBFOX2-related congenital heart disorder' SubClassOf 'cardiogenetic disease' + 'RBFOX2-related congenital heart disorder' SubClassOf 'congenital heart disease' Class: http://purl.obolibrary.org/obo/MONDO_0100539 Label(s): hemiplegic migraine-developmental and epileptic encephalopathy spectrum + 'hemiplegic migraine-developmental and epileptic encephalopathy spectrum' SubClassOf 'genetic developmental and epileptic encephalopathy' + 'hemiplegic migraine-developmental and epileptic encephalopathy spectrum' SubClassOf 'familial hemiplegic migraine' Class: http://purl.obolibrary.org/obo/MONDO_0100525 Label(s): TCF7L2-related neurodevelopmental disorder + 'TCF7L2-related neurodevelopmental disorder' SubClassOf 'Neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0004813 Label(s): tuberculous pneumothorax + 'tuberculous pneumothorax' SubClassOf 'pleural tuberculosis' + 'tuberculous pneumothorax' SubClassOf 'pneumothorax' Class: http://purl.obolibrary.org/obo/MONDO_0000379 Label(s): malignant Sertoli-Leydig cell tumor + 'malignant Sertoli-Leydig cell tumor' SubClassOf 'Sertoli-Leydig cell tumor' + 'malignant Sertoli-Leydig cell tumor' SubClassOf 'testicular carcinoma' Class: http://purl.obolibrary.org/obo/MONDO_0000378 Label(s): malignant Sertoli cell tumor + 'malignant Sertoli cell tumor' SubClassOf 'Sertoli cell tumor' + 'malignant Sertoli cell tumor' SubClassOf 'reproductive system cancer' Class: http://purl.obolibrary.org/obo/MONDO_0978291 Label(s): retinitis pigmentosa 99 + 'retinitis pigmentosa 99' SubClassOf 'retinitis pigmentosa' Class: http://purl.obolibrary.org/obo/MONDO_0978298 Label(s): combined oxidative phosphorylation deficiency 60 + 'combined oxidative phosphorylation deficiency 60' SubClassOf 'combined oxidative phosphorylation deficiency' Class: http://purl.obolibrary.org/obo/MONDO_0700351 Label(s): argyrophilic grain disease + 'argyrophilic grain disease' SubClassOf 'tauopathy' Class: http://purl.obolibrary.org/obo/MONDO_0100235 Label(s): FOXC1-related anterior segment dysgenesis + 'FOXC1-related anterior segment dysgenesis' SubClassOf 'iridogoniodysgenesis' Class: http://purl.obolibrary.org/obo/MONDO_0000213 Label(s): autoimmune disease, multisystem, infantile-onset + 'autoimmune disease, multisystem, infantile-onset' SubClassOf 'genetic disorder' + 'autoimmune disease, multisystem, infantile-onset' SubClassOf 'type II hypersensitivity reaction disease' Class: http://purl.obolibrary.org/obo/MONDO_0700273 Label(s): RAD51C-related cancer predisposition + 'RAD51C-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0005731 Label(s): obsolete dipetalonemiasis + 'obsolete dipetalonemiasis' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0600014 Label(s): alveolar capillary dysplasia without misalignment of pulmonary veins + 'alveolar capillary dysplasia without misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' Class: http://purl.obolibrary.org/obo/MONDO_0014505 Label(s): developmental and epileptic encephalopathy, 27 + 'developmental and epileptic encephalopathy, 27' SubClassOf 'infantile spasms' + 'developmental and epileptic encephalopathy, 27' SubClassOf 'GRIN2B-related complex neurodevelopmental disorder' + 'developmental and epileptic encephalopathy, 27' SubClassOf 'genetic developmental and epileptic encephalopathy' Class: http://purl.obolibrary.org/obo/MONDO_0700348 Label(s): BMPR1A-related juvenile polyposis syndrome + 'BMPR1A-related juvenile polyposis syndrome' SubClassOf 'juvenile polyposis syndrome' + 'BMPR1A-related juvenile polyposis syndrome' SubClassOf 'autosomal dominant disease' Class: http://purl.obolibrary.org/obo/MONDO_0700350 Label(s): GRIN2B-related complex neurodevelopmental disorder + 'GRIN2B-related complex neurodevelopmental disorder' SubClassOf 'GRIN-related complex neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_1040008 Label(s): CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy + 'CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0859763 Label(s): mosaic neurofibromatosis type 1 + 'mosaic neurofibromatosis type 1' SubClassOf 'neurofibromatosis/schwannomatosis' Class: http://purl.obolibrary.org/obo/MONDO_0012497 Label(s): congenital stationary night blindness autosomal dominant 3 + 'congenital stationary night blindness autosomal dominant 3' SubClassOf 'autosomal dominant disease' + 'congenital stationary night blindness autosomal dominant 3' SubClassOf 'congenital nervous system disorder' + 'congenital stationary night blindness autosomal dominant 3' SubClassOf 'congenital stationary night blindness' Class: http://purl.obolibrary.org/obo/MONDO_0859615 Label(s): diffuse astrocytoma, MYB- or MYBL1-altered + 'diffuse astrocytoma, MYB- or MYBL1-altered' SubClassOf 'diffuse astrocytoma' Class: http://purl.obolibrary.org/obo/MONDO_0859614 Label(s): diffuse low-grade glioma, MAPK pathway–altered + 'diffuse low-grade glioma, MAPK pathway–altered' SubClassOf 'low grade glioma' Class: http://purl.obolibrary.org/obo/MONDO_0859592 Label(s): IDH-mutant and 1p/19q-codeleted oligodendroglioma + 'IDH-mutant and 1p/19q-codeleted oligodendroglioma' SubClassOf 'anaplastic oligodendroglioma' Class: http://purl.obolibrary.org/obo/HP_0003771 Label(s): Pulp calcification + 'Pulp calcification' SubClassOf 'Abnormality of the dentition' Class: http://purl.obolibrary.org/obo/MONDO_0859008 Label(s): neurofibromatosis/schwannomatosis + 'neurofibromatosis/schwannomatosis' SubClassOf 'hereditary neoplastic syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0979229 Label(s): congenital myopathy 26 + 'congenital myopathy 26' SubClassOf 'congenital myopathy' Class: http://purl.obolibrary.org/obo/MONDO_0979232 Label(s): oocyte/zygote/embryo maturation arrest 24 + 'oocyte/zygote/embryo maturation arrest 24' SubClassOf 'inherited oocyte maturation defect' Class: http://purl.obolibrary.org/obo/MONDO_0979233 Label(s): immunodysregulation with variable immunodeficiency and autoimmunity + 'immunodysregulation with variable immunodeficiency and autoimmunity' SubClassOf 'inborn error of immunity' + 'immunodysregulation with variable immunodeficiency and autoimmunity' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0979234 Label(s): ICHAD syndrome + 'ICHAD syndrome' SubClassOf 'genetic disorder' + 'ICHAD syndrome' SubClassOf 'syndromic disease' Class: http://purl.obolibrary.org/obo/MONDO_0979235 Label(s): autoimmune disease, multisystem, infantile-onset, 5 + 'autoimmune disease, multisystem, infantile-onset, 5' SubClassOf 'autoimmune disease, multisystem, infantile-onset' Class: http://purl.obolibrary.org/obo/MONDO_0979243 Label(s): cardiomyopathy, dilated, 2M + 'cardiomyopathy, dilated, 2M' SubClassOf 'familial dilated cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0035534 Label(s): DONSON-related microcephaly-short stature-limb abnormalities spectrum + 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0002479 Label(s): Sertoli-Leydig cell tumor + 'Sertoli-Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_1060177 Label(s): developmental and epileptic encephalopathy 119 + 'developmental and epileptic encephalopathy 119' SubClassOf 'genetic developmental and epileptic encephalopathy' Class: http://purl.obolibrary.org/obo/MONDO_0956995 Label(s): astrocytoma, IDH-mutant, grade 3 + 'astrocytoma, IDH-mutant, grade 3' SubClassOf 'IDH-mutant anaplastic astrocytoma' Class: http://purl.obolibrary.org/obo/MONDO_0010016 Label(s): sclerosteosis 1 + 'sclerosteosis 1' SubClassOf 'sclerosteosis' Class: http://purl.obolibrary.org/obo/MONDO_0018738 Label(s): benign metanephric tumor + 'benign metanephric tumor' SubClassOf 'disease has location' some 'metanephros' + 'benign metanephric tumor' EquivalentTo 'benign neoplasm' and ('disease has location' some 'metanephros') + 'benign metanephric tumor' SubClassOf 'kidney benign neoplasm' Class: http://purl.obolibrary.org/obo/HP_0030872 Label(s): Abnormal cardiac ventricular function + 'Abnormal cardiac ventricular function' SubClassOf 'Abnormal cardiovascular system physiology' Class: http://purl.obolibrary.org/obo/HP_0030783 Label(s): Increased circulating interleukin 6 concentration + 'Increased circulating interleukin 6 concentration' SubClassOf 'Abnormality of immune system physiology' Class: http://purl.obolibrary.org/obo/MONDO_0979866 Label(s): oculovertebral syndrome + 'oculovertebral syndrome' SubClassOf 'genetic disorder' + 'oculovertebral syndrome' SubClassOf 'syndromic disease' Class: http://purl.obolibrary.org/obo/MONDO_0979871 Label(s): Alsahan-Harris syndrome + 'Alsahan-Harris syndrome' SubClassOf 'syndromic disease' + 'Alsahan-Harris syndrome' SubClassOf 'ciliopathy' Class: http://purl.obolibrary.org/obo/MONDO_0979873 Label(s): brain small vessel disease 4 + 'brain small vessel disease 4' SubClassOf 'familial porencephaly' Class: http://purl.obolibrary.org/obo/MONDO_0014861 Label(s): autoimmune disease, multisystem, infantile-onset, 2 + 'autoimmune disease, multisystem, infantile-onset, 2' SubClassOf 'autoimmune disease, multisystem, infantile-onset' Class: http://purl.obolibrary.org/obo/MONDO_0011413 Label(s): cataract 9 multiple types + 'cataract 9 multiple types' SubClassOf 'cataract' Class: http://purl.obolibrary.org/obo/MONDO_0015795 Label(s): undifferentiated embryonal sarcoma of the liver + 'undifferentiated embryonal sarcoma of the liver' SubClassOf 'liver and intrahepatic bile duct neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0979226 Label(s): leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy + 'leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy' SubClassOf 'leukodystrophy' Class: http://purl.obolibrary.org/obo/MONDO_1040003 Label(s): KCND2-related neurodevelopmental disorder with or without seizures + 'KCND2-related neurodevelopmental disorder with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0034021 Label(s): spondylodysplastic Ehlers-Danlos syndrome + 'spondylodysplastic Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' + 'spondylodysplastic Ehlers-Danlos syndrome' SubClassOf 'linkeropathy' Class: http://purl.obolibrary.org/obo/MONDO_0011052 Label(s): amelia cleft lip palate hydrocephalus iris coloboma + 'amelia cleft lip palate hydrocephalus iris coloboma' SubClassOf 'syndromic disease' + 'amelia cleft lip palate hydrocephalus iris coloboma' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0007963 Label(s): melanoma, cutaneous malignant, susceptibility to, 1 + 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' Class: http://purl.obolibrary.org/obo/MONDO_0018437 Label(s): acute myeloid leukemia with NPM1 somatic mutations + 'acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'acute myeloid leukemia' Class: http://purl.obolibrary.org/obo/MONDO_0007932 Label(s): age related macular degeneration 2 + 'age related macular degeneration 2' SubClassOf 'age-related macular degeneration' ---------------------------------- 2. Changes to EFO3 @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_95430 Label(s): Congenital tracheomalacia - 'Congenital tracheomalacia' SubClassOf 'Rare otorhinolaryngological malformation' - 'Congenital tracheomalacia' SubClassOf 'Genetic respiratory or mediastinal malformation' + 'Congenital tracheomalacia' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0007088 Label(s): Alzheimer disease type 1 + 'Alzheimer disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060190 Class: http://purl.obolibrary.org/obo/MONDO_0030462 Label(s): Joubert syndrome 40 + 'Joubert syndrome 40' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060191 Class: http://purl.obolibrary.org/obo/MONDO_0014926 Label(s): Bardet-Biedl syndrome 22 + 'Bardet-Biedl syndrome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060191 Class: http://www.orpha.net/ORDO/Orphanet_391677 Label(s): Short stature-optic atrophy-Pelger-Huët anomaly syndrome - 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Genetic malformation syndrome with short stature' + 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0014306 Label(s): vasculitis due to ADA2 deficiency - 'vasculitis due to ADA2 deficiency' SubClassOf 'deficiency of adenosine deaminase 2' + 'vasculitis due to ADA2 deficiency' SubClassOf 'hereditary disorder of connective tissue' + 'vasculitis due to ADA2 deficiency' SubClassOf 'type 1 interferonopathy of childhood' Class: http://purl.obolibrary.org/obo/HP_0025168 Label(s): Left ventricular diastolic dysfunction - 'Left ventricular diastolic dysfunction' SubClassOf 'Abnormal cardiovascular system physiology' + 'Left ventricular diastolic dysfunction' SubClassOf http://purl.obolibrary.org/obo/HP_0030872 Class: http://purl.obolibrary.org/obo/HP_0008647 Label(s): Pubertal developmental failure in females - 'Pubertal developmental failure in females' SubClassOf 'Abnormality of the endocrine system' + 'Pubertal developmental failure in females' SubClassOf http://purl.obolibrary.org/obo/HP_0008197 Class: http://www.ebi.ac.uk/efo/EFO_0007237 Label(s): dipetalonemiasis - 'dipetalonemiasis' SubClassOf 'Rhabditida infectious disease' - 'dipetalonemiasis' SubClassOf 'parasitic skin disorder' - 'dipetalonemiasis' SubClassOf 'filariasis' + 'dipetalonemiasis' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://www.orpha.net/ORDO/Orphanet_100032 Label(s): Hypocalcified amelogenesis imperfecta - 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' + 'Hypocalcified amelogenesis imperfecta' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0013576 Label(s): recurrent infections associated with rare immunoglobulin isotypes deficiency + 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'predisposes towards' some 'infectious disease' Class: http://purl.obolibrary.org/obo/GO_0071953 Label(s): elastic fiber - 'elastic fiber' SubClassOf 'part_of' some 'extracellular matrix' Class: http://purl.obolibrary.org/obo/HP_0012664 Label(s): Reduced left ventricular ejection fraction - 'Reduced left ventricular ejection fraction' SubClassOf 'Abnormal cardiovascular system physiology' + 'Reduced left ventricular ejection fraction' SubClassOf http://purl.obolibrary.org/obo/HP_0030872 Class: http://www.ebi.ac.uk/efo/EFO_0010500 Label(s): hypoxanthine measurement - 'hypoxanthine measurement' SubClassOf 'purine measurement' - 'hypoxanthine measurement' SubClassOf 'is_about' some 'hypoxanthine' + 'hypoxanthine measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://www.ebi.ac.uk/efo/EFO_0010455 Label(s): adipic acid measurement - 'adipic acid measurement' SubClassOf 'carboxylic acid measurement' - 'adipic acid measurement' SubClassOf 'lipid measurement' - 'adipic acid measurement' SubClassOf 'is_about' some 'adipic acid' + 'adipic acid measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0011583 Label(s): cerebral amyloid angiopathy, APP-related + 'cerebral amyloid angiopathy, APP-related' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060190 Class: http://purl.obolibrary.org/obo/MONDO_0971179 Label(s): arterial tortuosity-bone fragility syndrome - 'arterial tortuosity-bone fragility syndrome' SubClassOf 'genetic disorder' + 'arterial tortuosity-bone fragility syndrome' SubClassOf 'hereditary disorder of connective tissue' + 'arterial tortuosity-bone fragility syndrome' SubClassOf 'inherited cutis laxa' + 'arterial tortuosity-bone fragility syndrome' SubClassOf 'vascular disease' + 'arterial tortuosity-bone fragility syndrome' SubClassOf 'osteochondrodysplasia' Class: http://purl.obolibrary.org/obo/MONDO_0100317 Label(s): deficiency of adenosine deaminase 2 - 'deficiency of adenosine deaminase 2' SubClassOf 'hereditary disorder of connective tissue' - 'deficiency of adenosine deaminase 2' SubClassOf 'type 1 interferonopathy of childhood' Class: http://www.ebi.ac.uk/efo/EFO_0007357 Label(s): mansonelliasis + 'mansonelliasis' SubClassOf 'Rhabditida infectious disease' Class: http://purl.obolibrary.org/obo/GO_0006541 Label(s): glutamine metabolic process - 'glutamine metabolic process' SubClassOf 'amino acid metabolic process' Class: http://purl.obolibrary.org/obo/HP_0002034 Label(s): Abnormal rectum morphology + 'Abnormal rectum morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0012732 Class: http://www.ebi.ac.uk/efo/EFO_1001186 Label(s): Sneddon syndrome - 'Sneddon syndrome' SubClassOf 'hereditary skin disorder' - 'Sneddon syndrome' SubClassOf 'deficiency of adenosine deaminase 2' Class: http://purl.obolibrary.org/obo/MONDO_0019736 Label(s): dense deposit disease - 'dense deposit disease' SubClassOf 'primary membranoproliferative glomerulonephritis' + 'dense deposit disease' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' ---------------------------------- 3. Obsolete Classes in EFO @Classes deleted from this version Class: http://purl.obolibrary.org/obo/MONDO_0100317 Label(s): deficiency of adenosine deaminase 2 + 'deficiency of adenosine deaminase 2' SubClassOf 'hereditary disorder of connective tissue' + 'deficiency of adenosine deaminase 2' SubClassOf 'type 1 interferonopathy of childhood' ---------------------------------- 4. Scope of the Ontology The Experimental Factor Ontology (EFO) provides a systematic description of many experimental variables available in EBI databases, and for external projects such as the NHGRI GWAS catalogue and Centre for Therapeutic Target Validation. It combines parts of several biological ontologies, such as anatomy, disease and chemical compounds. The scope of EFO is to support the annotation, analysis and visualization of data handled by the EBI Functional Genomics Team. We also add terms for external users when requested. Experimental factors are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. The factors are modelled as classes (i.e. types) within the ontology and properties are used to add information about each type such as a textual definition and synonyms for that term label as well as axiomatic class descriptions such as whether the entity being described is part_of another entity or a subclass of it. As an application focused ontology, we attempt to import and reuse classes where they exist in external, reference ontologies. ---------------------------------- 5. External Ontology and Resource Mapping List The full list of ontologies and external resources currently imported or mapped into EFO is as follows: The Monarch Disease Ontology (MONDO) Orphanet Rare Disease (version 2.0) UBERON anatomy ontology Chemical entities of biological interest (CHEBI) Cell type ontology (CL) Cell Line Ontology (CLO) Mammalian phenotype (MP) ver1.309 Human Phenotype (HP) Medical Subject Headings (MSH) ver2009_2009_02_13 International Classification of Diseases (ICD-9) ver9 Phenotypic quality (PATO) ver1.188 CRISP Thesaurus Version 2.5.2.0 Mosquito gross anatomy (TGMA) ver1.10 Human disease (DOID) ver1.88 Drosophila gross anatomy (FBbt) ver1.30 Foundational Model of Anatomy (FMA) ver3.0 The Arabidopsis Information Resource (TAIR) (various dates) The Jackson Lab mouse database (various dates) SNOMED Clinical Terms (SNOMEDCT) ver2009_01_31 Ontology for Biomedical Investigations (OBI) Units of measurement (UO) ver1.21 Microarray experimental conditions (MO) ver1.3.1.1 Plant structure (PO) Minimal anatomical terminology (MAT) ver1.1 NIFSTD (nif) ver1.4 NCI Thesaurus (NCIt) ver09.07 Zebrafish anatomy and development (ZFA) ver1.23 BRENDA tissue / enzyme source (BTO) ver1.3 Relation Ontology ---------------------------------- 6. Known OWL to OBO Conversion Issues We are using the OORT library to convert the OWL inferred view of the ontology into OBO. This is a lossy process and works only for the is_a axis. We discard much of the richness that is available in the OWL version of the EFO. We always recommend you use the OWL version of EFO as the primary resource if possible. More information can be obtained from www.ebi.ac.uk/efo or you can download the EFO OWL file directly from www.ebi.ac.uk/efo/efo.owl ---------------------------------- 7. Contact Details For questions and comments and to report any usage issues please visit the www.ebi.ac.uk/efo website, or e-mail efo-users@ebi.ac.uk