Ontology Diff Summary Diff date: 2022/06/24 15:54:12 First ontology URI: /mnt/c/Users/dlagorce/Orphanet/ORDO/ORDO_DEC2021/OWL/ORDO_en_4.0.owl Second ontology URI: /mnt/c/Users/dlagorce/Orphanet/ORDO/ORDO_JUNE2022/OWL/ORDO_en_4.1.owl Number of classes changed: 122 Number of classes added: 99 Number of classes deleted: 2 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_434516 Label(s): phosphatidylinositol 4-kinase alpha + 'phosphatidylinositol 4-kinase alpha' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Combined immunodeficiency-enteropathy spectrum' Class: http://www.orpha.net/ORDO/Orphanet_120606 Label(s): Zic family member 1 - 'Zic family member 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Isolated oxycephaly' - 'Zic family member 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Isolated plagiocephaly' Class: http://www.orpha.net/ORDO/Orphanet_3133 Label(s): Say-Field-Coldwell syndrome - 'Say-Field-Coldwell syndrome' SubClassOf 'malformation syndrome' - 'Say-Field-Coldwell syndrome' SubClassOf 'disorder' + 'Say-Field-Coldwell syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_123085 Label(s): limb development membrane protein 1 - 'limb development membrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Hypoplastic tibiae-postaxial polydactyly syndrome' - 'limb development membrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Triphalangeal thumb-polysyndactyly syndrome' + 'limb development membrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' Class: http://www.orpha.net/ORDO/Orphanet_201089 Label(s): epidermal growth factor - 'epidermal growth factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' + 'epidermal growth factor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_620368 Class: http://www.orpha.net/ORDO/Orphanet_122783 Label(s): potassium inwardly rectifying channel subfamily J member 1 - 'potassium inwardly rectifying channel subfamily J member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Antenatal Bartter syndrome' + 'potassium inwardly rectifying channel subfamily J member 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_620220 Class: http://www.orpha.net/ORDO/Orphanet_160253 Label(s): MDS1 and EVI1 complex locus - 'MDS1 and EVI1 complex locus' SubClassOf 'part of a fusion gene in' some 'Myelodysplastic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2196 Label(s): Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'disease' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'disorder' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_88632 Label(s): Anterior segment developmental anomaly + 'Anterior segment developmental anomaly' SubClassOf 'Rare genetic disorder of the anterior segment of the eye' + 'Anterior segment developmental anomaly' SubClassOf 'Genetic developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_123135 Label(s): mitogen-activated protein kinase kinase 1 + 'mitogen-activated protein kinase kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_118618 Label(s): serpin family G member 1 - 'serpin family G member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'C1 inhibitor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_330717 Label(s): dynein regulatory complex subunit 1 + 'dynein regulatory complex subunit 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_34527 Label(s): Familial primary hypomagnesemia with normocalciuria and normocalcemia - 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'disease' - 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'disorder' + 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_34526 Label(s): Genetic primary hypomagnesemia - 'Genetic primary hypomagnesemia' SubClassOf 'Rare renal tubular disease' - 'Genetic primary hypomagnesemia' SubClassOf 'group of disorders' - 'Genetic primary hypomagnesemia' SubClassOf 'Rare disorder potentially indicated for kidney transplant' - 'Genetic primary hypomagnesemia' SubClassOf 'Genetic renal tubular disease' - 'Genetic primary hypomagnesemia' SubClassOf 'Disorder of magnesium transport' + 'Genetic primary hypomagnesemia' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_209285 Label(s): dicer 1, ribonuclease III + 'dicer 1, ribonuclease III' SubClassOf 'disease-causing somatic mutation(s) in' some 'Embryonal rhabdomyosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_94095 Label(s): Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome - 'Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome' SubClassOf 'disorder' - 'Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome' SubClassOf 'malformation syndrome' + 'Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_276402 Label(s): Limbic encephalitis with caspr2 antibodies - 'Limbic encephalitis with caspr2 antibodies' SubClassOf 'disease' - 'Limbic encephalitis with caspr2 antibodies' SubClassOf 'disorder' + 'Limbic encephalitis with caspr2 antibodies' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_394596 Label(s): transient receptor potential cation channel subfamily A member 1 + 'transient receptor potential cation channel subfamily A member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Cramp-fasciculation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139145 Label(s): BAF chromatin remodeling complex subunit BCL11A + 'BAF chromatin remodeling complex subunit BCL11A' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_619233 Class: http://www.orpha.net/ORDO/Orphanet_120345 Label(s): twist family bHLH transcription factor 1 - 'twist family bHLH transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated plagiocephaly' Class: http://www.orpha.net/ORDO/Orphanet_119276 Label(s): cadherin 1 + 'cadherin 1' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_284116 Label(s): inosine triphosphatase - 'inosine triphosphatase' SubClassOf 'biomarker tested in' some 'Susceptibility to adverse reaction due to mercaptopurine' + 'inosine triphosphatase' SubClassOf 'biomarker tested in' some 'Azathioprine or 6-mercatopurine toxicity or dose selection' Class: http://www.orpha.net/ORDO/Orphanet_284113 Label(s): Susceptibility to adverse reaction due to mercaptopurine - 'Susceptibility to adverse reaction due to mercaptopurine' SubClassOf 'particular clinical situation in a disease or syndrome' - 'Susceptibility to adverse reaction due to mercaptopurine' SubClassOf 'disorder' + 'Susceptibility to adverse reaction due to mercaptopurine' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_96152 Label(s): Distal monosomy 20q - 'Distal monosomy 20q' SubClassOf 'malformation syndrome' - 'Distal monosomy 20q' SubClassOf 'disorder' + 'Distal monosomy 20q' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_163898 Label(s): Classic paraneoplastic limbic encephalitis - 'Classic paraneoplastic limbic encephalitis' SubClassOf 'disease' - 'Classic paraneoplastic limbic encephalitis' SubClassOf 'disorder' + 'Classic paraneoplastic limbic encephalitis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_391684 Label(s): calreticulin + 'calreticulin' SubClassOf 'disease-causing somatic mutation(s) in' some 'Budd-Chiari syndrome' Class: http://www.orpha.net/ORDO/Orphanet_306516 Label(s): Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'group of disorders' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'Genetic primary hypomagnesemia' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'disease' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_318801 Label(s): ATP binding cassette subfamily B member 1 + 'ATP binding cassette subfamily B member 1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_619277 Class: http://www.orpha.net/ORDO/Orphanet_98253 Label(s): Postinfectious encephalitis - 'Postinfectious encephalitis' SubClassOf 'Infectious disease of the nervous system' - 'Postinfectious encephalitis' SubClassOf 'group of disorders' - 'Postinfectious encephalitis' SubClassOf 'Encephalitis' + 'Postinfectious encephalitis' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_98249 Label(s): Ehlers-Danlos syndrome - 'Ehlers-Danlos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' + 'Ehlers-Danlos syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_619249 Class: http://www.orpha.net/ORDO/Orphanet_122376 Label(s): hemoglobin subunit beta + 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_122374 Label(s): hemoglobin subunit alpha 2 + 'hemoglobin subunit alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_208999 Label(s): Paraneoplastic sensory ganglionopathy - 'Paraneoplastic sensory ganglionopathy' SubClassOf 'group of disorders' - 'Paraneoplastic sensory ganglionopathy' SubClassOf 'Acquired sensory ganglionopathy' - 'Paraneoplastic sensory ganglionopathy' SubClassOf 'Solid tumor associated with an acquired peripheral neuropathy' + 'Paraneoplastic sensory ganglionopathy' SubClassOf 'disorder' + 'Paraneoplastic sensory ganglionopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_208989 Label(s): Non-paraneoplastic sensory ganglionopathy - 'Non-paraneoplastic sensory ganglionopathy' SubClassOf 'Acquired sensory ganglionopathy' - 'Non-paraneoplastic sensory ganglionopathy' SubClassOf 'group of disorders' + 'Non-paraneoplastic sensory ganglionopathy' SubClassOf 'disorder' + 'Non-paraneoplastic sensory ganglionopathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label(s): BRCA2 DNA repair associated + 'BRCA2 DNA repair associated' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' + 'BRCA2 DNA repair associated' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_618572 Class: http://www.orpha.net/ORDO/Orphanet_284993 Label(s): Marfan syndrome and Marfan-related disorders - 'Marfan syndrome and Marfan-related disorders' SubClassOf 'Rare genetic systemic or rheumatologic disease' + 'Marfan syndrome and Marfan-related disorders' SubClassOf http://www.orpha.net/ORDO/Orphanet_619249 Class: http://www.orpha.net/ORDO/Orphanet_1428 Label(s): Familial chondromalacia patellae - 'Familial chondromalacia patellae' SubClassOf 'disorder' - 'Familial chondromalacia patellae' SubClassOf 'disease' + 'Familial chondromalacia patellae' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_306522 Label(s): Genetic primary hypomagnesemia with normocalciuria - 'Genetic primary hypomagnesemia with normocalciuria' SubClassOf 'group of disorders' - 'Genetic primary hypomagnesemia with normocalciuria' SubClassOf 'Genetic primary hypomagnesemia' + 'Genetic primary hypomagnesemia with normocalciuria' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_306519 Label(s): Genetic primary hypomagnesemia with hypocalciuria - 'Genetic primary hypomagnesemia with hypocalciuria' SubClassOf 'Genetic primary hypomagnesemia' - 'Genetic primary hypomagnesemia with hypocalciuria' SubClassOf 'group of disorders' + 'Genetic primary hypomagnesemia with hypocalciuria' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_80 Label(s): NON RARE IN EUROPE: Antiphospholipid syndrome - 'NON RARE IN EUROPE: Antiphospholipid syndrome' SubClassOf 'non rare disorder' + 'NON RARE IN EUROPE: Antiphospholipid syndrome' SubClassOf 'disorder' + 'NON RARE IN EUROPE: Antiphospholipid syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_306498 Label(s): PTEN hamartoma tumor syndrome + 'PTEN hamartoma tumor syndrome' SubClassOf 'Genetic skin tumor' Class: http://www.orpha.net/ORDO/Orphanet_119172 Label(s): calpain 3 + 'calpain 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Calpain-3-related limb-girdle muscular dystrophy D4' Class: http://www.orpha.net/ORDO/Orphanet_3267 Label(s): Familial lambdoid synostosis - 'Familial lambdoid synostosis' SubClassOf 'Morphological anomaly' - 'Familial lambdoid synostosis' SubClassOf 'disorder' + 'Familial lambdoid synostosis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_1549 Label(s): Cryptosporidiosis - 'Cryptosporidiosis' SubClassOf 'disease' - 'Cryptosporidiosis' SubClassOf 'disorder' + 'Cryptosporidiosis' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_1533 Label(s): Craniosynostosis-fibular aplasia syndrome - 'Craniosynostosis-fibular aplasia syndrome' SubClassOf 'malformation syndrome' - 'Craniosynostosis-fibular aplasia syndrome' SubClassOf 'disorder' + 'Craniosynostosis-fibular aplasia syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_163908 Label(s): Limbic encephalitis with LGI1 antibodies - 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'disorder' - 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'disease' + 'Limbic encephalitis with LGI1 antibodies' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_138671 Label(s): hemoglobin subunit alpha 1 + 'hemoglobin subunit alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant secondary polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_118737 Label(s): solute carrier family 12 member 1 - 'solute carrier family 12 member 1' SubClassOf 'gene with protein product' - 'solute carrier family 12 member 1' SubClassOf 'has_chromosomal location' value "15q21.1" - 'solute carrier family 12 member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Antenatal Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_163903 Label(s): Limbic encephalitis associated with antibodies to cell membrane antigens - 'Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf 'group of disorders' - 'Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf 'Paraneoplastic limbic encephalitis' + 'Limbic encephalitis associated with antibodies to cell membrane antigens' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_79213 Label(s): Mucopolysaccharidosis + 'Mucopolysaccharidosis' SubClassOf 'Syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_946 Label(s): Acrocephalosyndactyly - 'Acrocephalosyndactyly' SubClassOf 'group of disorders' - 'Acrocephalosyndactyly' SubClassOf 'Syndromic craniosynostosis' - 'Acrocephalosyndactyly' SubClassOf 'Syndrome with synostosis or other joint formation defect' + 'Acrocephalosyndactyly' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_965 Label(s): Acromegaloid facial appearance syndrome - 'Acromegaloid facial appearance syndrome' SubClassOf 'disorder' - 'Acromegaloid facial appearance syndrome' SubClassOf 'malformation syndrome' + 'Acromegaloid facial appearance syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_966 Label(s): Hypertrichosis-acromegaloid facial appearance syndrome - 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'malformation syndrome' - 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'disorder' + 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_461215 Label(s): sterile alpha motif domain containing 9 like + 'sterile alpha motif domain containing 9 like' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_619367 Class: http://www.orpha.net/ORDO/Orphanet_2257 Label(s): Primary pulmonary hypoplasia - 'Primary pulmonary hypoplasia' SubClassOf 'malformation syndrome' + 'Primary pulmonary hypoplasia' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_163895 Label(s): Paraneoplastic limbic encephalitis - 'Paraneoplastic limbic encephalitis' SubClassOf 'Paraneoplastic neurologic syndrome' - 'Paraneoplastic limbic encephalitis' SubClassOf 'group of disorders' - 'Paraneoplastic limbic encephalitis' SubClassOf 'Limbic encephalitis' + 'Paraneoplastic limbic encephalitis' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_163892 Label(s): Limbic encephalitis - 'Limbic encephalitis' SubClassOf 'group of disorders' - 'Limbic encephalitis' SubClassOf 'Encephalitis' - 'Limbic encephalitis' SubClassOf 'Inflammatory and autoimmune disease with epilepsy' + 'Limbic encephalitis' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_471194 Label(s): T-box brain transcription factor 1 - 'T-box brain transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Occipital pachygyria and polymicrogyria' + 'T-box brain transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_121900 Label(s): forkhead box E3 - 'forkhead box E3' SubClassOf 'disease-causing germline mutation(s) in' some 'Anterior segment developmental anomaly' Class: http://www.orpha.net/ORDO/Orphanet_332108 Label(s): ETS2 repressor factor - 'ETS2 repressor factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial lambdoid synostosis' - 'ETS2 repressor factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Isolated cloverleaf skull syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410627 Label(s): alpha-2-macroglobulin like 1 - 'alpha-2-macroglobulin like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Noonan syndrome' - 'alpha-2-macroglobulin like 1' SubClassOf 'gene with protein product' - 'alpha-2-macroglobulin like 1' SubClassOf 'has_chromosomal location' value "12p13.31" Class: http://www.orpha.net/ORDO/Orphanet_121815 Label(s): fibroblast growth factor receptor 3 - 'fibroblast growth factor receptor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated plagiocephaly' Class: http://www.orpha.net/ORDO/Orphanet_183487 Label(s): Genetic skin tumor + 'Genetic skin tumor' SubClassOf 'Rare genetic skin disease' Class: http://www.orpha.net/ORDO/Orphanet_163924 Label(s): Non-herpetic acute limbic encephalitis - 'Non-herpetic acute limbic encephalitis' SubClassOf 'disease' - 'Non-herpetic acute limbic encephalitis' SubClassOf 'disorder' + 'Non-herpetic acute limbic encephalitis' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_2343 Label(s): Isolated cloverleaf skull syndrome - 'Isolated cloverleaf skull syndrome' SubClassOf 'Morphological anomaly' - 'Isolated cloverleaf skull syndrome' SubClassOf 'disorder' + 'Isolated cloverleaf skull syndrome' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_122574 Label(s): interferon gamma + 'interferon gamma' SubClassOf 'modifying germline mutation in' some 'Tuberous sclerosis complex' Class: http://www.orpha.net/ORDO/Orphanet_235936 Label(s): Familial hyperaldosteronism + 'Familial hyperaldosteronism' SubClassOf 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_455932 Label(s): DNase1 hypersensitivity, chromosome 6, site 1 + 'DNase1 hypersensitivity, chromosome 6, site 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Progressive bifocal chorioretinal atrophy' Class: http://www.orpha.net/ORDO/Orphanet_123902 Label(s): nuclear receptor subfamily 0 group B member 1 - 'nuclear receptor subfamily 0 group B member 1' SubClassOf 'role in the phenotype of' some '46,XY complete gonadal dysgenesis' + 'nuclear receptor subfamily 0 group B member 1' SubClassOf 'disease-causing germline mutation(s) in' some '46,XY complete gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_509002 Label(s): EPH receptor B4 + 'EPH receptor B4' SubClassOf 'disease-causing germline mutation(s) in' some 'Meige disease' Class: http://www.orpha.net/ORDO/Orphanet_609955 Label(s): glutamate metabotropic receptor 7 + 'glutamate metabotropic receptor 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_173526 Label(s): RAN binding protein 2 - 'RAN binding protein 2' SubClassOf 'major susceptibility factor in' some 'Familial acute necrotizing encephalopathy' + 'RAN binding protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial acute necrotizing encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_3332 Label(s): Hypoplastic tibiae-postaxial polydactyly syndrome - 'Hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'disorder' - 'Hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'malformation syndrome' + 'Hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_227390 Label(s): solute carrier family 34 member 1 + 'solute carrier family 34 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary hypophosphatemic rickets with hypercalciuria' Class: http://www.orpha.net/ORDO/Orphanet_121663 Label(s): coagulation factor XII + 'coagulation factor XII' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_617919 Class: http://www.orpha.net/ORDO/Orphanet_73247 Label(s): Eosinophilic esophagitis - 'Eosinophilic esophagitis' SubClassOf 'disease' - 'Eosinophilic esophagitis' SubClassOf 'disorder' + 'Eosinophilic esophagitis' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_221346 Label(s): NRAS proto-oncogene, GTPase + 'NRAS proto-oncogene, GTPase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_156629 Label(s): Rare genetic cause of hypertension - 'Rare genetic cause of hypertension' SubClassOf 'Rare disorder potentially indicated for kidney transplant' Class: http://www.orpha.net/ORDO/Orphanet_201546 Label(s): kelch like family member 7 + 'kelch like family member 7' SubClassOf 'disease-causing germline mutation(s) in' some 'KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome' + 'kelch like family member 7' SubClassOf 'disease-causing germline mutation(s) in' some 'KLHL7-related cold-induced sweating-like syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168362 Label(s): doublesex and mab-3 related transcription factor 1 - 'doublesex and mab-3 related transcription factor 1' SubClassOf 'candidate gene tested in' some '46,XY complete gonadal dysgenesis' + 'doublesex and mab-3 related transcription factor 1' SubClassOf 'role in the phenotype of' some '46,XY complete gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_119064 Label(s): bisphosphoglycerate mutase + 'bisphosphoglycerate mutase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive secondary polycythemia not associated with VHL gene' Class: http://www.orpha.net/ORDO/Orphanet_31043 Label(s): Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'disorder' - 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'disease' + 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_2950 Label(s): Triphalangeal thumb-polysyndactyly syndrome - 'Triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'malformation syndrome' - 'Triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disorder' + 'Triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_530642 Label(s): nucleoporin 85 + 'nucleoporin 85' SubClassOf 'disease-causing germline mutation(s) in' some 'Seckel syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118023 Label(s): prion protein - 'prion protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Sporadic fatal insomnia' Class: http://www.orpha.net/ORDO/Orphanet_289543 Label(s): BRCA1 associated protein 1 + 'BRCA1 associated protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label(s): BRCA1 DNA repair associated + 'BRCA1 DNA repair associated' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_618572 + 'BRCA1 DNA repair associated' SubClassOf 'disease-causing somatic mutation(s) in' some 'Cholangiocarcinoma' Class: http://www.orpha.net/ORDO/Orphanet_330703 Label(s): transcription factor 12 - 'transcription factor 12' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Isolated plagiocephaly' Class: http://www.orpha.net/ORDO/Orphanet_420818 Label(s): lon peptidase 1, mitochondrial + 'lon peptidase 1, mitochondrial' SubClassOf 'major susceptibility factor in' some 'Congenital diaphragmatic hernia' Class: http://www.orpha.net/ORDO/Orphanet_211008 Label(s): major histocompatibility complex, class II, DQ beta 1 - 'major histocompatibility complex, class II, DQ beta 1' SubClassOf 'major susceptibility factor in' some 'Limbic encephalitis with LGI1 antibodies' Class: http://www.orpha.net/ORDO/Orphanet_311068 Label(s): cyclin and CBS domain divalent metal cation transport mediator 2 - 'cyclin and CBS domain divalent metal cation transport mediator 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' + 'cyclin and CBS domain divalent metal cation transport mediator 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_620363 Class: http://www.orpha.net/ORDO/Orphanet_63440 Label(s): Isolated oxycephaly - 'Isolated oxycephaly' SubClassOf 'Morphological anomaly' - 'Isolated oxycephaly' SubClassOf 'disorder' + 'Isolated oxycephaly' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_218376 Label(s): major histocompatibility complex, class I, A + 'major histocompatibility complex, class I, A' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_619246 Class: http://www.orpha.net/ORDO/Orphanet_123772 Label(s): neurofibromin 1 + 'neurofibromin 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Pleomorphic rhabdomyosarcoma' + 'neurofibromin 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Alveolar rhabdomyosarcoma' + 'neurofibromin 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Embryonal rhabdomyosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_120204 Label(s): tumor protein p53 + 'tumor protein p53' SubClassOf 'disease-causing germline mutation(s) in' some 'Alveolar rhabdomyosarcoma' + 'tumor protein p53' SubClassOf 'disease-causing germline mutation(s) in' some 'Pleomorphic rhabdomyosarcoma' + 'tumor protein p53' SubClassOf 'disease-causing germline mutation(s) in' some 'Embryonal rhabdomyosarcoma' Class: http://www.orpha.net/ORDO/Orphanet_122427 Label(s): major histocompatibility complex, class II, DR beta 1 - 'major histocompatibility complex, class II, DR beta 1' SubClassOf 'major susceptibility factor in' some 'Limbic encephalitis with LGI1 antibodies' Class: http://www.orpha.net/ORDO/Orphanet_459353 Label(s): C1 inhibitor deficiency - 'C1 inhibitor deficiency' SubClassOf 'disorder' - 'C1 inhibitor deficiency' SubClassOf 'disease' + 'C1 inhibitor deficiency' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_118703 Label(s): sonic hedgehog signaling molecule - 'sonic hedgehog signaling molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Hypoplastic tibiae-postaxial polydactyly syndrome' - 'sonic hedgehog signaling molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Triphalangeal thumb-polysyndactyly syndrome' + 'sonic hedgehog signaling molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' Class: http://www.orpha.net/ORDO/Orphanet_282786 Label(s): glutamate ionotropic receptor NMDA type subunit 1 + 'glutamate ionotropic receptor NMDA type subunit 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Early infantile epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_302892 Label(s): intraflagellar transport 140 + 'intraflagellar transport 140' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal dominant polycystic kidney disease' Class: http://www.orpha.net/ORDO/Orphanet_119217 Label(s): cyclin D1 + 'cyclin D1' SubClassOf 'modifying germline mutation in' some 'Von Hippel-Lindau disease' Class: http://www.orpha.net/ORDO/Orphanet_217601 Label(s): Hypertrophic cardiomyopathy due to intensive athletic training - 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'disorder' - 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'disease' + 'Hypertrophic cardiomyopathy due to intensive athletic training' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_208650 Label(s): Cryopyrin-associated periodic syndrome + 'Cryopyrin-associated periodic syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_622720 Class: http://www.orpha.net/ORDO/Orphanet_121073 Label(s): diaphanous related formin 1 + 'diaphanous related formin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Moyamoya disease' Class: http://www.orpha.net/ORDO/Orphanet_449270 Label(s): caseinolytic mitochondrial matrix peptidase chaperone subunit B + 'caseinolytic mitochondrial matrix peptidase chaperone subunit B' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal dominant severe congenital neutropenia' Class: http://www.orpha.net/ORDO/Orphanet_225293 Label(s): WD repeat domain 72 + 'WD repeat domain 72' SubClassOf 'disease-causing germline mutation(s) in' some 'Distal renal tubular acidosis' Class: http://www.orpha.net/ORDO/Orphanet_163918 Label(s): Non-paraneoplastic limbic encephalitis - 'Non-paraneoplastic limbic encephalitis' SubClassOf 'group of disorders' - 'Non-paraneoplastic limbic encephalitis' SubClassOf 'Limbic encephalitis' + 'Non-paraneoplastic limbic encephalitis' SubClassOf 'obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_117673 Label(s): ATP binding cassette subfamily C member 9 - 'ATP binding cassette subfamily C member 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Acromegaloid facial appearance syndrome' - 'ATP binding cassette subfamily C member 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Hypertrichosis-acromegaloid facial appearance syndrome' Class: http://www.orpha.net/ORDO/Orphanet_35098 Label(s): Isolated plagiocephaly - 'Isolated plagiocephaly' SubClassOf 'disorder' - 'Isolated plagiocephaly' SubClassOf 'Morphological anomaly' + 'Isolated plagiocephaly' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_119854 Label(s): serine palmitoyltransferase long chain base subunit 1 + 'serine palmitoyltransferase long chain base subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_498700 Label(s): Limbic encephalitis with neurexin-3 antibodies - 'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'disorder' - 'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'disease' + 'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_459084 Label(s): MAGE family member D2 - 'MAGE family member D2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Antenatal Bartter syndrome' + 'MAGE family member D2' SubClassOf 'disease-causing germline mutation(s) in' some 'Transient antenatal Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_470056 Label(s): cell division cycle 42 + 'cell division cycle 42' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_619363 Class: http://www.orpha.net/ORDO/Orphanet_329341 Label(s): Limbic encephalitis with DPP6 antibodies - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'disease' - 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'disorder' + 'Limbic encephalitis with DPP6 antibodies' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_122808 Label(s): potassium voltage-gated channel subfamily Q member 2 + 'potassium voltage-gated channel subfamily Q member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_93604 Label(s): Antenatal Bartter syndrome - 'Antenatal Bartter syndrome' SubClassOf 'subtype of a disorder' + 'Antenatal Bartter syndrome' SubClassOf 'obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_556328 Label(s): interferon regulatory factor 2 binding protein 2 + 'interferon regulatory factor 2 binding protein 2' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_366774 Label(s): ATPase Na+/K+ transporting subunit alpha 1 + 'ATPase Na+/K+ transporting subunit alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Primary hypomagnesemia with refractory seizures and intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3315 Label(s): NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency - 'NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency' SubClassOf 'non rare disorder' + 'NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_370064 Label(s): erb-b2 receptor tyrosine kinase 4 + 'erb-b2 receptor tyrosine kinase 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_602301 Label(s): dishevelled associated activator of morphogenesis 2 - 'dishevelled associated activator of morphogenesis 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Idiopathic multidrug-resistant nephrotic syndrome' + 'dishevelled associated activator of morphogenesis 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Genetic steroid-resistant nephrotic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_329252 Label(s): Spondylocostal dysostosis-hypospadias-intellectual disability syndrome - 'Spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'disease' - 'Spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'disorder' + 'Spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'obsolete disorder' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_2258 Label(s): OBSOLETE: Congenital unilateral pulmonary hypoplasia + 'OBSOLETE: Congenital unilateral pulmonary hypoplasia' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_624268 Label(s): Non-specific autoimmune cerebellar ataxia without characteristic antibodies + 'Non-specific autoimmune cerebellar ataxia without characteristic antibodies' SubClassOf 'disorder' + 'Non-specific autoimmune cerebellar ataxia without characteristic antibodies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_624244 Label(s): Postinfectious cerebellitis + 'Postinfectious cerebellitis' SubClassOf 'disease' + 'Postinfectious cerebellitis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_622014 Label(s): Autoimmune encephalitis + 'Autoimmune encephalitis' SubClassOf 'Encephalitis' + 'Autoimmune encephalitis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_622001 Label(s): zinc finger SWIM-type containing 7 + 'zinc finger SWIM-type containing 7' SubClassOf 'gene with protein product' + 'zinc finger SWIM-type containing 7' SubClassOf 'has_chromosomal location' value "17p12" + 'zinc finger SWIM-type containing 7' SubClassOf 'disease-causing germline mutation(s) in' some '46,XX gonadal dysgenesis' Class: http://www.orpha.net/ORDO/Orphanet_621997 Label(s): inosine monophosphate dehydrogenase 2 + 'inosine monophosphate dehydrogenase 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal dominant dopa-responsive dystonia' + 'inosine monophosphate dehydrogenase 2' SubClassOf 'has_chromosomal location' value "3p21.31" + 'inosine monophosphate dehydrogenase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_624190 Label(s): Paraneoplastic isolated brainstem encephalitis + 'Paraneoplastic isolated brainstem encephalitis' SubClassOf 'disease' + 'Paraneoplastic isolated brainstem encephalitis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_624166 Label(s): Non-specific autoimmune supratentorial encephalitis with characteristic antibodies + 'Non-specific autoimmune supratentorial encephalitis with characteristic antibodies' SubClassOf 'disorder' + 'Non-specific autoimmune supratentorial encephalitis with characteristic antibodies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_622720 Label(s): Genetic autoinflammatory syndrome with skin involvement + 'Genetic autoinflammatory syndrome with skin involvement' SubClassOf 'Rare genetic skin disease' + 'Genetic autoinflammatory syndrome with skin involvement' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_229801 Label(s): kinase insert domain receptor + 'kinase insert domain receptor' SubClassOf 'major susceptibility factor in' some 'Tetralogy of Fallot' + 'kinase insert domain receptor' SubClassOf 'has_chromosomal location' value "4q12" + 'kinase insert domain receptor' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_618569 Label(s): Prediction of sensitivity to immunosuppressive drugs in myelodysplasia + 'Prediction of sensitivity to immunosuppressive drugs in myelodysplasia' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of sensitivity to immunosuppressive drugs in myelodysplasia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_566974 Label(s): intersectin 1 + 'intersectin 1' SubClassOf 'has_chromosomal location' value "21q22.11" + 'intersectin 1' SubClassOf 'gene with protein product' + 'intersectin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_621764 Label(s): NHL repeat containing 2 + 'NHL repeat containing 2' SubClassOf 'gene with protein product' + 'NHL repeat containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' + 'NHL repeat containing 2' SubClassOf 'has_chromosomal location' value "10q25.3" Class: http://www.orpha.net/ORDO/Orphanet_617906 Label(s): chloride voltage-gated channel 3 + 'chloride voltage-gated channel 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'chloride voltage-gated channel 3' SubClassOf 'has_chromosomal location' value "4q33" + 'chloride voltage-gated channel 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_617908 Label(s): sprouty related EVH1 domain containing 2 + 'sprouty related EVH1 domain containing 2' SubClassOf 'has_chromosomal location' value "2p14" + 'sprouty related EVH1 domain containing 2' SubClassOf 'gene with protein product' + 'sprouty related EVH1 domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Noonan syndrome' Class: http://www.orpha.net/ORDO/Orphanet_621758 Label(s): Fibrosis-neurodegeneration-cerebral angiomatosis syndrome + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf 'disorder' + 'Fibrosis-neurodegeneration-cerebral angiomatosis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_618572 Label(s): Selection of therapeutic option in ovarian cancer + 'Selection of therapeutic option in ovarian cancer' SubClassOf 'disorder' + 'Selection of therapeutic option in ovarian cancer' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_623801 Label(s): Acute flaccid myelitis + 'Acute flaccid myelitis' SubClassOf 'disease' + 'Acute flaccid myelitis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_624199 Label(s): Non-specific autoimmune brainstem encephalitis with characteristic antibodies + 'Non-specific autoimmune brainstem encephalitis with characteristic antibodies' SubClassOf 'disorder' + 'Non-specific autoimmune brainstem encephalitis with characteristic antibodies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_621999 Label(s): GDNF family receptor alpha 1 + 'GDNF family receptor alpha 1' SubClassOf 'has_chromosomal location' value "10q25.3" + 'GDNF family receptor alpha 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Renal agenesis, bilateral' + 'GDNF family receptor alpha 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_99142 Label(s): Microcephaly-cutis verticis gyrata-lymphedema syndrome + 'Microcephaly-cutis verticis gyrata-lymphedema syndrome' SubClassOf 'deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_623789 Label(s): Body integrity dysphoria + 'Body integrity dysphoria' SubClassOf 'disease' + 'Body integrity dysphoria' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_99166 Label(s): NON RARE IN EUROPE: Familial combined hyperlipoproteinemia + 'NON RARE IN EUROPE: Familial combined hyperlipoproteinemia' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_622003 Label(s): BAG cochaperone 5 + 'BAG cochaperone 5' SubClassOf 'gene with protein product' + 'BAG cochaperone 5' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated dilated cardiomyopathy' + 'BAG cochaperone 5' SubClassOf 'has_chromosomal location' value "14q32.33" Class: http://www.orpha.net/ORDO/Orphanet_623695 Label(s): MIR140-related spondyloepiphyseal dysplasia + 'MIR140-related spondyloepiphyseal dysplasia' SubClassOf 'malformation syndrome' + 'MIR140-related spondyloepiphyseal dysplasia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_623638 Label(s): Immune-mediated cerebellar ataxia + 'Immune-mediated cerebellar ataxia' SubClassOf 'Acquired ataxia' + 'Immune-mediated cerebellar ataxia' SubClassOf 'group of disorders' + 'Immune-mediated cerebellar ataxia' SubClassOf 'Autoimmune encephalitis' Class: http://www.orpha.net/ORDO/Orphanet_583333 Label(s): angiopoietin 2 + 'angiopoietin 2' SubClassOf 'has_chromosomal location' value "8p23.1" + 'angiopoietin 2' SubClassOf 'gene with protein product' + 'angiopoietin 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-immune hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_623626 Label(s): Paraneoplastic cerebellar degeneration + 'Paraneoplastic cerebellar degeneration' SubClassOf 'disorder' + 'Paraneoplastic cerebellar degeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_623615 Label(s): Autoimmune limbic encephalitis + 'Autoimmune limbic encephalitis' SubClassOf 'disorder' + 'Autoimmune limbic encephalitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_617897 Label(s): Wnt family member 9B + 'Wnt family member 9B' SubClassOf 'gene with protein product' + 'Wnt family member 9B' SubClassOf 'has_chromosomal location' value "17q21.32" + 'Wnt family member 9B' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Renal agenesis, bilateral' Class: http://www.orpha.net/ORDO/Orphanet_617297 Label(s): Twin-reversed arterial perfusion sequence + 'Twin-reversed arterial perfusion sequence' SubClassOf 'disorder' + 'Twin-reversed arterial perfusion sequence' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_585336 Label(s): mannosidase alpha class 2C member 1 + 'mannosidase alpha class 2C member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'mannosidase alpha class 2C member 1' SubClassOf 'gene with protein product' + 'mannosidase alpha class 2C member 1' SubClassOf 'has_chromosomal location' value "15q24.2" Class: http://www.orpha.net/ORDO/Orphanet_620113 Label(s): Non-syndromic unilambdoid craniosynostosis + 'Non-syndromic unilambdoid craniosynostosis' SubClassOf 'disorder' + 'Non-syndromic unilambdoid craniosynostosis' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_616874 Label(s): Rare disorder without a determined diagnosis after full investigation + 'Rare disorder without a determined diagnosis after full investigation' SubClassOf 'disease' + 'Rare disorder without a determined diagnosis after full investigation' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617919 Label(s): F12-associated cold autoinflammatory syndrome + 'F12-associated cold autoinflammatory syndrome' SubClassOf 'disorder' + 'F12-associated cold autoinflammatory syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_617890 Label(s): N-alpha-acetyltransferase 20, NatB catalytic subunit + 'N-alpha-acetyltransferase 20, NatB catalytic subunit' SubClassOf 'gene with protein product' + 'N-alpha-acetyltransferase 20, NatB catalytic subunit' SubClassOf 'has_chromosomal location' value "20p11.23" + 'N-alpha-acetyltransferase 20, NatB catalytic subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_620198 Label(s): Non-syndromic bicoronal and metopic craniosynostosis + 'Non-syndromic bicoronal and metopic craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic bicoronal and metopic craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_622005 Label(s): dynein heavy chain domain 1 + 'dynein heavy chain domain 1' SubClassOf 'has_chromosomal location' value "11p15.4" + 'dynein heavy chain domain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' + 'dynein heavy chain domain 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_619979 Label(s): Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome + 'Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome' SubClassOf 'disorder' + 'Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_619972 Label(s): CADINS disease + 'CADINS disease' SubClassOf 'disorder' + 'CADINS disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_619953 Label(s): Familial hyperinflammatory lymphoproliferative immunodeficiency + 'Familial hyperinflammatory lymphoproliferative immunodeficiency' SubClassOf 'disorder' + 'Familial hyperinflammatory lymphoproliferative immunodeficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_619941 Label(s): Immune deficiency due to impaired neutrophil phagocytosis and migration + 'Immune deficiency due to impaired neutrophil phagocytosis and migration' SubClassOf 'disease' + 'Immune deficiency due to impaired neutrophil phagocytosis and migration' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_619277 Label(s): Prediction of antihistamines toxicity + 'Prediction of antihistamines toxicity' SubClassOf 'disorder' + 'Prediction of antihistamines toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_569718 Label(s): pannexin 1 + 'pannexin 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Female infertility due to oocyte meiotic arrest' + 'pannexin 1' SubClassOf 'gene with protein product' + 'pannexin 1' SubClassOf 'has_chromosomal location' value "11q21" Class: http://www.orpha.net/ORDO/Orphanet_619363 Label(s): Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf 'disorder' + 'Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_617304 Label(s): Amniotic fluid embolism + 'Amniotic fluid embolism' SubClassOf 'disorder' + 'Amniotic fluid embolism' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_594816 Label(s): target of myb1 membrane trafficking protein + 'target of myb1 membrane trafficking protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' + 'target of myb1 membrane trafficking protein' SubClassOf 'gene with protein product' + 'target of myb1 membrane trafficking protein' SubClassOf 'has_chromosomal location' value "22q12.3" Class: http://www.orpha.net/ORDO/Orphanet_622934 Label(s): SBDS-related severe neonatal spondylometaphyseal dysplasia + 'SBDS-related severe neonatal spondylometaphyseal dysplasia' SubClassOf 'disorder' + 'SBDS-related severe neonatal spondylometaphyseal dysplasia' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_622914 Label(s): Rare genetic nevus + 'Rare genetic nevus' SubClassOf 'Genetic skin tumor or hamartoma' + 'Rare genetic nevus' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_617449 Label(s): Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome + 'Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome' SubClassOf 'disease' + 'Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617440 Label(s): Painful legs and moving toes syndrome + 'Painful legs and moving toes syndrome' SubClassOf 'Clinical syndrome' + 'Painful legs and moving toes syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617307 Label(s): Rare disorder related to monochorionic twin pregnancy + 'Rare disorder related to monochorionic twin pregnancy' SubClassOf 'Rare disorder related with pregnancy, childbirth and puerperium' + 'Rare disorder related to monochorionic twin pregnancy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_617313 Label(s): Rare disorder due to inadequate sharing of the placenta + 'Rare disorder due to inadequate sharing of the placenta' SubClassOf 'group of disorders' + 'Rare disorder due to inadequate sharing of the placenta' SubClassOf 'Rare disorder related to monochorionic twin pregnancy' Class: http://www.orpha.net/ORDO/Orphanet_617930 Label(s): Hemophilia B Leyden + 'Hemophilia B Leyden' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_619367 Label(s): SAMD9L-associated autoinflammatory syndrome + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf 'disorder' + 'SAMD9L-associated autoinflammatory syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_619948 Label(s): Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome + 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf 'disorder' + 'Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_624259 Label(s): Non-specific autoimmune cerebellar ataxia with characteristic antibodies + 'Non-specific autoimmune cerebellar ataxia with characteristic antibodies' SubClassOf 'disease' + 'Non-specific autoimmune cerebellar ataxia with characteristic antibodies' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617310 Label(s): Rare disorder due to unbalanced inter-twin blood transfusion + 'Rare disorder due to unbalanced inter-twin blood transfusion' SubClassOf 'Rare disorder related to monochorionic twin pregnancy' + 'Rare disorder due to unbalanced inter-twin blood transfusion' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_617301 Label(s): Selective intrauterine growth restriction + 'Selective intrauterine growth restriction' SubClassOf 'disorder' + 'Selective intrauterine growth restriction' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_2989 Label(s): Familial pterygium of the conjunctiva + 'Familial pterygium of the conjunctiva' SubClassOf 'Morphological anomaly' + 'Familial pterygium of the conjunctiva' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_99704 Label(s): Early-onset obesity-hyperphagia-severe developmental delay syndrome + 'Early-onset obesity-hyperphagia-severe developmental delay syndrome' SubClassOf 'disease' + 'Early-onset obesity-hyperphagia-severe developmental delay syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617294 Label(s): Twin anemia-polycythemia sequence + 'Twin anemia-polycythemia sequence' SubClassOf 'disease' + 'Twin anemia-polycythemia sequence' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617408 Label(s): Classic eosinophilic pustular folliculitis + 'Classic eosinophilic pustular folliculitis' SubClassOf 'disorder' + 'Classic eosinophilic pustular folliculitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_622925 Label(s): X-linked severe syndromic thoracic aortic aneurysm and dissection + 'X-linked severe syndromic thoracic aortic aneurysm and dissection' SubClassOf 'malformation syndrome' + 'X-linked severe syndromic thoracic aortic aneurysm and dissection' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_619360 Label(s): NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin + 'NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_619340 Label(s): Inherited hematologic cancer-predisposing syndrome + 'Inherited hematologic cancer-predisposing syndrome' SubClassOf 'group of disorders' + 'Inherited hematologic cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_624178 Label(s): Non-specific autoimmune supratentorial encephalitis without characteristic antibodies + 'Non-specific autoimmune supratentorial encephalitis without characteristic antibodies' SubClassOf 'disorder' + 'Non-specific autoimmune supratentorial encephalitis without characteristic antibodies' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_620371 Label(s): Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf 'disorder' + 'Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_620368 Label(s): EGF-related primary hypomagnesemia with intellectual disability + 'EGF-related primary hypomagnesemia with intellectual disability' SubClassOf 'disease' + 'EGF-related primary hypomagnesemia with intellectual disability' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620363 Label(s): Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf 'disease' + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_619284 Label(s): Narcolepsy + 'Narcolepsy' SubClassOf 'Rare sleep disorder' + 'Narcolepsy' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_619249 Label(s): Rare hereditary connective tissue disease + 'Rare hereditary connective tissue disease' SubClassOf 'group of disorders' + 'Rare hereditary connective tissue disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_619246 Label(s): Selection of immunotherapy in solid cancer + 'Selection of immunotherapy in solid cancer' SubClassOf 'disorder' + 'Selection of immunotherapy in solid cancer' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_619233 Label(s): Hereditary persistence of fetal hemoglobin-intellectual disability syndrome + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf 'disorder' + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_594386 Label(s): discs large MAGUK scaffold protein 4 + 'discs large MAGUK scaffold protein 4' SubClassOf 'gene with protein product' + 'discs large MAGUK scaffold protein 4' SubClassOf 'has_chromosomal location' value "17p13.1" + 'discs large MAGUK scaffold protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_470234 Label(s): dynein axonemal heavy chain 10 + 'dynein axonemal heavy chain 10' SubClassOf 'has_chromosomal location' value "12q24.31" + 'dynein axonemal heavy chain 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' + 'dynein axonemal heavy chain 10' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_409990 Label(s): Western Asia + 'Western Asia' SubClassOf 'geography' Class: http://www.orpha.net/ORDO/Orphanet_620220 Label(s): Bartter syndrome type 2 + 'Bartter syndrome type 2' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_620217 Label(s): Bartter syndrome type 1 + 'Bartter syndrome type 1' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_620212 Label(s): Non-syndromic pansynostosis + 'Non-syndromic pansynostosis' SubClassOf 'disorder' + 'Non-syndromic pansynostosis' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_620205 Label(s): Non-syndromic bicoronal and sagittal craniosynostosis + 'Non-syndromic bicoronal and sagittal craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic bicoronal and sagittal craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_624216 Label(s): Non-specific autoimmune brainstem encephalitis without characteristic antibodies + 'Non-specific autoimmune brainstem encephalitis without characteristic antibodies' SubClassOf 'disease' + 'Non-specific autoimmune brainstem encephalitis without characteristic antibodies' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620192 Label(s): Non-syndromic metopic and sagittal craniosynostosis + 'Non-syndromic metopic and sagittal craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic metopic and sagittal craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620186 Label(s): Non-syndromic unicoronal and sagittal craniosynostosis + 'Non-syndromic unicoronal and sagittal craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic unicoronal and sagittal craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620178 Label(s): Non-syndromic bilambdoid craniosynostosis + 'Non-syndromic bilambdoid craniosynostosis' SubClassOf 'disorder' + 'Non-syndromic bilambdoid craniosynostosis' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_622099 Label(s): Superior mesenteric artery syndrome + 'Superior mesenteric artery syndrome' SubClassOf 'disorder' + 'Superior mesenteric artery syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_620158 Label(s): Non-syndromic non-specific multisutural craniosynostosis + 'Non-syndromic non-specific multisutural craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic non-specific multisutural craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620152 Label(s): Non-syndromic multisutural craniosynostosis + 'Non-syndromic multisutural craniosynostosis' SubClassOf 'group of disorders' + 'Non-syndromic multisutural craniosynostosis' SubClassOf 'Non-syndromic craniosynostosis' Class: http://www.orpha.net/ORDO/Orphanet_620146 Label(s): Non-syndromic unisquamosal craniosynostosis + 'Non-syndromic unisquamosal craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic unisquamosal craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620139 Label(s): Non-syndromic unifrontosphenoidal craniosynostosis + 'Non-syndromic unifrontosphenoidal craniosynostosis' SubClassOf 'Morphological anomaly' + 'Non-syndromic unifrontosphenoidal craniosynostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_620102 Label(s): Non-syndromic unicoronal craniosynostosis + 'Non-syndromic unicoronal craniosynostosis' SubClassOf 'disorder' + 'Non-syndromic unicoronal craniosynostosis' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_617902 Label(s): ubiquitin specific peptidase 48 + 'ubiquitin specific peptidase 48' SubClassOf 'has_chromosomal location' value "1p36.12" + 'ubiquitin specific peptidase 48' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' + 'ubiquitin specific peptidase 48' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_617904 Label(s): karyopherin subunit alpha 3 + 'karyopherin subunit alpha 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 37' + 'karyopherin subunit alpha 3' SubClassOf 'has_chromosomal location' value "13q14.2" + 'karyopherin subunit alpha 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_617910 Label(s): Conjunctival malignant melanoma + 'Conjunctival malignant melanoma' SubClassOf 'disease' + 'Conjunctival malignant melanoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_617916 Label(s): Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia + 'Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia' SubClassOf 'disorder' + 'Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_95458 Label(s): OBSOLETE: Tricuspid valve prolapse + 'OBSOLETE: Tricuspid valve prolapse' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_620096 Label(s): Non-syndromic unisutural craniosynostosis + 'Non-syndromic unisutural craniosynostosis' SubClassOf 'Non-syndromic craniosynostosis' + 'Non-syndromic unisutural craniosynostosis' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_618899 Label(s): Acid sphingomyelinase deficiency + 'Acid sphingomyelinase deficiency' SubClassOf 'group of disorders' + 'Acid sphingomyelinase deficiency' SubClassOf 'Rare metabolic liver disease' + 'Acid sphingomyelinase deficiency' SubClassOf 'Sphingolipidosis' + 'Acid sphingomyelinase deficiency' SubClassOf 'Secondary interstitial lung disease specific to childhood associated with a metabolic disease' + 'Acid sphingomyelinase deficiency' SubClassOf 'Rare disorder potentially indicated for liver transplant' + 'Acid sphingomyelinase deficiency' SubClassOf 'Genetic interstitial lung disease' Class: http://www.orpha.net/ORDO/Orphanet_618891 Label(s): Chronic neurovisceral acid sphingomyelinase deficiency + 'Chronic neurovisceral acid sphingomyelinase deficiency' SubClassOf 'disease' + 'Chronic neurovisceral acid sphingomyelinase deficiency' SubClassOf 'disorder' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_118737 Label(s): solute carrier family 12 member 1 + 'solute carrier family 12 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 12 member 1' SubClassOf 'has_chromosomal location' value "15q21.1" + 'solute carrier family 12 member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Antenatal Bartter syndrome' Class: http://www.orpha.net/ORDO/Orphanet_410627 Label(s): alpha-2-macroglobulin like 1 + 'alpha-2-macroglobulin like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Noonan syndrome' + 'alpha-2-macroglobulin like 1' SubClassOf 'gene with protein product' + 'alpha-2-macroglobulin like 1' SubClassOf 'has_chromosomal location' value "12p13.31"