Ontology Diff Summary Diff date: 2024/12/03 11:11:22 First ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/last_version/ORDO_en_4.6.owl Second ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/previous_version/ORDO_en_4.5.owl Number of classes changed: 182 Number of classes added: 2 Number of classes deleted: 73 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_306189 Label(s): E74 like ETS transcription factor 4 - 'E74 like ETS transcription factor 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_684742 Label(s): 2q13 microdeletion syndrome - '2q13 microdeletion syndrome' SubClassOf 'malformation syndrome' - '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - '2q13 microdeletion syndrome' SubClassOf 'disorder' - '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2 syndrome' - '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_688727 Label(s): transmembrane protein 87B - 'transmembrane protein 87B' SubClassOf 'has_chromosomal location' value "2q13" - 'transmembrane protein 87B' SubClassOf 'role in the phenotype of' some '2q13 microdeletion syndrome' - 'transmembrane protein 87B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_688720 Label(s): WD repeat domain 37 - 'WD repeat domain 37' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'NOCGUS syndrome' - 'WD repeat domain 37' SubClassOf 'has_chromosomal location' value "10p15.3" - 'WD repeat domain 37' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_688702 Label(s): scavenger receptor class B member 1 - 'scavenger receptor class B member 1' SubClassOf 'gene with protein product' - 'scavenger receptor class B member 1' SubClassOf 'has_chromosomal location' value "12q24.31" - 'scavenger receptor class B member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial Hyperalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_201114 Label(s): MYD88 innate immune signal transduction adaptor + 'MYD88 innate immune signal transduction adaptor' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency' Class: http://www.orpha.net/ORDO/Orphanet_95426 Label(s): OBSOLETE: Chronic pain requiring intraspinal analgesia - 'OBSOLETE: Chronic pain requiring intraspinal analgesia' SubClassOf 'Referred to' some 'Rare neurologic disease' Class: http://www.orpha.net/ORDO/Orphanet_122574 Label(s): interferon gamma - 'interferon gamma' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_397787 Label(s): Combined immunodeficiency due to IKK2 deficiency - 'Combined immunodeficiency due to IKK2 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to IKK2 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_493393 Label(s): casein kinase 2 beta - 'casein kinase 2 beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Poirier-Bienvenue neurodevelopmental syndrome' Class: http://www.orpha.net/ORDO/Orphanet_688649 Label(s): Isolated adrenal medullary hyperplasia - 'Isolated adrenal medullary hyperplasia' SubClassOf 'disorder' - 'Isolated adrenal medullary hyperplasia' SubClassOf 'part_of' some 'Rare adrenal disease' - 'Isolated adrenal medullary hyperplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_688647 Label(s): polycomb group ring finger 2 - 'polycomb group ring finger 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Turnpenny-Fry syndrome' - 'polycomb group ring finger 2' SubClassOf 'has_chromosomal location' value "17q12" - 'polycomb group ring finger 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_688642 Label(s): Turnpenny-Fry syndrome - 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Turnpenny-Fry syndrome' SubClassOf 'malformation syndrome' - 'Turnpenny-Fry syndrome' SubClassOf 'disorder' - 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_687695 Label(s): 10p13-p14 deletion syndrome - '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Syndome with combined immunodeficiency due to thymic defect' - '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '10p13-p14 deletion syndrome' SubClassOf 'malformation syndrome' - '10p13-p14 deletion syndrome' SubClassOf 'disorder' - '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119005 Label(s): branched chain keto acid dehydrogenase E1 subunit beta + 'branched chain keto acid dehydrogenase E1 subunit beta' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Thiamine-responsive maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_119002 Label(s): branched chain keto acid dehydrogenase E1 subunit alpha + 'branched chain keto acid dehydrogenase E1 subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Thiamine-responsive maple syrup urine disease' Class: http://www.orpha.net/ORDO/Orphanet_685004 Label(s): Primary pericardial mesothelioma - 'Primary pericardial mesothelioma' SubClassOf 'disorder' - 'Primary pericardial mesothelioma' SubClassOf 'disease' - 'Primary pericardial mesothelioma' SubClassOf 'part_of' some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_685010 Label(s): Mesothelioma of the tunica vaginalis - 'Mesothelioma of the tunica vaginalis' SubClassOf 'disorder' - 'Mesothelioma of the tunica vaginalis' SubClassOf 'disease' - 'Mesothelioma of the tunica vaginalis' SubClassOf 'part_of' some 'Tumor of testis and paratestis' Class: http://www.orpha.net/ORDO/Orphanet_118639 Label(s): surfactant protein B - 'surfactant protein B' SubClassOf 'major susceptibility factor in' some 'Pediatric acute respiratory distress syndrome' + 'surfactant protein B' SubClassOf 'major susceptibility factor in' some 'Infant acute respiratory distress syndrome' Class: http://www.orpha.net/ORDO/Orphanet_70587 Label(s): Infant acute respiratory distress syndrome - 'Infant acute respiratory distress syndrome' SubClassOf 'deprecated disorder' - 'Infant acute respiratory distress syndrome' SubClassOf 'Moved to' some 'Pediatric acute respiratory distress syndrome' + 'Infant acute respiratory distress syndrome' SubClassOf 'disease' + 'Infant acute respiratory distress syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Infant acute respiratory distress syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_118803 Label(s): solute carrier family 25 member 22 + 'solute carrier family 25 member 22' SubClassOf 'disease-causing germline mutation(s) in' some 'Early myoclonic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_685067 Label(s): Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' - 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'disease' - 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'disorder' - 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_683720 Label(s): ROS proto-oncogene 1, receptor tyrosine kinase - 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Cholangiocarcinoma' - 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'gene with protein product' - 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Giant cell glioblastoma' - 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'has_chromosomal location' value "6q22.1" Class: http://www.orpha.net/ORDO/Orphanet_454821 Label(s): OBSOLETE: Pleomorphic salivary gland adenoma - 'OBSOLETE: Pleomorphic salivary gland adenoma' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: Pleomorphic salivary gland adenoma' SubClassOf 'part_of' some 'Benign epithelial tumor of salivary glands' + 'OBSOLETE: Pleomorphic salivary gland adenoma' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_594394 Label(s): dedicator of cytokinesis 11 - 'dedicator of cytokinesis 11' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Early-onset immune dysregulation due to DOCK11 complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_228123 Label(s): Coccidioidomycosis - 'Coccidioidomycosis' SubClassOf 'part_of' some 'Rare mycosis' + 'Coccidioidomycosis' SubClassOf 'part_of' some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_688594 Label(s): Combined immunodeficiency due to RELB deficiency - 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'disease' - 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'disorder' - 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal Ig and poor specific antibody response' Class: http://www.orpha.net/ORDO/Orphanet_688581 Label(s): Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'disorder' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'malformation syndrome' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' - 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_688571 Label(s): Combined immunodeficiency with low immunoglobulins - 'Combined immunodeficiency with low immunoglobulins' SubClassOf 'group of disorders' - 'Combined immunodeficiency with low immunoglobulins' SubClassOf 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_688563 Label(s): Combined immunodeficiency with normal Ig and poor specific antibody response - 'Combined immunodeficiency with normal Ig and poor specific antibody response' SubClassOf 'group of disorders' - 'Combined immunodeficiency with normal Ig and poor specific antibody response' SubClassOf 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_689822 Label(s): Structural heart defects-renal anomalies syndrome - 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'Structural heart defects-renal anomalies syndrome' SubClassOf 'disorder' - 'Structural heart defects-renal anomalies syndrome' SubClassOf 'malformation syndrome' - 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_120137 Label(s): anoctamin 5 - 'anoctamin 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated asymptomatic elevation of creatine phosphokinase' - 'anoctamin 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_601754 Label(s): MAP kinase activating death domain - 'MAP kinase activating death domain' SubClassOf 'disease-causing germline mutation(s) in' some 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_688523 Label(s): Splenic venous malformation - 'Splenic venous malformation' SubClassOf 'disease' - 'Splenic venous malformation' SubClassOf 'disorder' - 'Splenic venous malformation' SubClassOf 'part_of' some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_484167 Label(s): TNF receptor superfamily member 10b + 'TNF receptor superfamily member 10b' SubClassOf 'major susceptibility factor in' some 'OBSOLETE: Squamous cell carcinoma of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_659642 Label(s): Rauch-Steindl syndrome - 'Rauch-Steindl syndrome' SubClassOf 'disorder' - 'Rauch-Steindl syndrome' SubClassOf 'malformation syndrome' + 'Rauch-Steindl syndrome' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_364789 Label(s): Fos proto-oncogene, AP-1 transcription factor subunit - 'Fos proto-oncogene, AP-1 transcription factor subunit' SubClassOf 'part of a fusion gene in' some 'Epithelioid hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_248487 Label(s): high mobility group AT-hook 2 + 'high mobility group AT-hook 2' SubClassOf 'part of a fusion gene in' some 'OBSOLETE: Pleomorphic salivary gland adenoma' Class: http://www.orpha.net/ORDO/Orphanet_447737 Label(s): Combined immunodeficiency due to DOCK2 deficiency - 'Combined immunodeficiency due to DOCK2 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to DOCK2 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_793 Label(s): SAPHO syndrome - 'SAPHO syndrome' SubClassOf 'part_of' some 'Rare pediatric rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_767 Label(s): Polyarteritis nodosa - 'Polyarteritis nodosa' SubClassOf 'part_of' some 'Rare pediatric vasculitis' Class: http://www.orpha.net/ORDO/Orphanet_686465 Label(s): Fibrotic hypersensitivity pneumonitis - 'Fibrotic hypersensitivity pneumonitis' SubClassOf 'part_of' some 'Hypersensitivity pneumonitis' - 'Fibrotic hypersensitivity pneumonitis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_687741 Label(s): Multisystem Langerhans cell histiocytosis - 'Multisystem Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Multisystem Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_688543 Label(s): Reticular dysgenesis-like severe combined immunodeficiency - 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'disorder' - 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'disease' - 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_689237 Label(s): RAS like proto-oncogene A - 'RAS like proto-oncogene A' SubClassOf 'has_chromosomal location' value "7p14.1" - 'RAS like proto-oncogene A' SubClassOf 'gene with protein product' - 'RAS like proto-oncogene A' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_118489 Label(s): sodium voltage-gated channel alpha subunit 1 - 'sodium voltage-gated channel alpha subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_690420 Label(s): tripartite motif containing 22 - 'tripartite motif containing 22' SubClassOf 'has_chromosomal location' value "11p15.4" - 'tripartite motif containing 22' SubClassOf 'disease-causing germline mutation(s) in' some 'TRIM22-related inflammatory bowel disease' - 'tripartite motif containing 22' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_122654 Label(s): inhibitor of growth family member 1 + 'inhibitor of growth family member 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'OBSOLETE: Squamous cell carcinoma of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_50817 Label(s): Duane anomaly-myopathy-scoliosis syndrome - 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'Moved to' some 'Horizontal gaze palsy with progressive scoliosis' - 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'deprecated disorder' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'disease' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'part_of' some 'Syndromic disorder with strabismus' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'disorder' + 'Duane anomaly-myopathy-scoliosis syndrome' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' Class: http://www.orpha.net/ORDO/Orphanet_280914 Label(s): Isolated idiopathic anterior uveitis - 'Isolated idiopathic anterior uveitis' SubClassOf 'disorder' - 'Isolated idiopathic anterior uveitis' SubClassOf 'part_of' some 'Anterior uveitis' - 'Isolated idiopathic anterior uveitis' SubClassOf 'disease' + 'Isolated idiopathic anterior uveitis' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_166302 Label(s): Benign partial epilepsy with secondarily generalized seizures in infancy - 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'obsolete disorder' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'part_of' some 'Benign non-familial infantile seizures' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'disorder' + 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_444761 Label(s): zinc finger MYND-type containing 11 - 'zinc finger MYND-type containing 11' SubClassOf 'role in the phenotype of' some '10p15 microdeletion syndrome' - 'zinc finger MYND-type containing 11' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'zinc finger MYND-type containing 11' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_274222 Label(s): GATA binding protein 2 + 'GATA binding protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Unclassified myelodysplastic syndrome' + 'GATA binding protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited acute myeloid leukemia' Class: http://www.orpha.net/ORDO/Orphanet_159484 Label(s): catenin delta 2 - 'catenin delta 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_530652 Label(s): transient receptor potential cation channel subfamily V member 6 - 'transient receptor potential cation channel subfamily V member 6' SubClassOf 'major susceptibility factor in' some 'Hereditary chronic pancreatitis' Class: http://www.orpha.net/ORDO/Orphanet_314938 Label(s): thrombospondin type laminin G domain and EAR repeats - 'thrombospondin type laminin G domain and EAR repeats' SubClassOf 'disease-causing germline mutation(s) in' some 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' + 'thrombospondin type laminin G domain and EAR repeats' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_166299 Label(s): Benign partial epilepsy of infancy with complex partial seizures - 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'obsolete disorder' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'part_of' some 'Benign non-familial infantile seizures' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'disorder' + 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_233060 Label(s): vimentin - 'vimentin' SubClassOf 'part of a fusion gene in' some 'Epithelioid hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_689231 Label(s): IFH1-related hereditary spastic paraplegia - 'IFH1-related hereditary spastic paraplegia' SubClassOf 'disease' - 'IFH1-related hereditary spastic paraplegia' SubClassOf 'disorder' - 'IFH1-related hereditary spastic paraplegia' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_690417 Label(s): alkaline phosphatase, intestinal - 'alkaline phosphatase, intestinal' SubClassOf 'gene with protein product' - 'alkaline phosphatase, intestinal' SubClassOf 'has_chromosomal location' value "2q37.1" - 'alkaline phosphatase, intestinal' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'ALPI-related inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_1027 Label(s): Autosomal recessive amelia - 'Autosomal recessive amelia' SubClassOf 'Moved to' some 'Tetraamelia-multiple malformations syndrome' - 'Autosomal recessive amelia' SubClassOf 'deprecated disorder' + 'Autosomal recessive amelia' SubClassOf 'malformation syndrome' + 'Autosomal recessive amelia' SubClassOf 'disorder' + 'Autosomal recessive amelia' SubClassOf 'part_of' some 'Dysostosis with combined reduction defects of upper and lower limbs' Class: http://www.orpha.net/ORDO/Orphanet_99909 Label(s): OBSOLETE: Occupational allergic alveolitis - 'OBSOLETE: Occupational allergic alveolitis' SubClassOf 'obsolete group of disorder' - 'OBSOLETE: Occupational allergic alveolitis' SubClassOf 'Referred to' some 'Hypersensitivity pneumonitis' + 'OBSOLETE: Occupational allergic alveolitis' SubClassOf 'group of disorders' + 'OBSOLETE: Occupational allergic alveolitis' SubClassOf 'Hypersensitivity pneumonitis' Class: http://www.orpha.net/ORDO/Orphanet_99907 Label(s): OBSOLETE: House allergic alveolitis - 'OBSOLETE: House allergic alveolitis' SubClassOf 'obsolete disorder' - 'OBSOLETE: House allergic alveolitis' SubClassOf 'Referred to' some 'Hypersensitivity pneumonitis' + 'OBSOLETE: House allergic alveolitis' SubClassOf 'disorder' + 'OBSOLETE: House allergic alveolitis' SubClassOf 'part_of' some 'Hypersensitivity pneumonitis' + 'OBSOLETE: House allergic alveolitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_687738 Label(s): Single-system multifocal Langerhans cell histiocytosis - 'Single-system multifocal Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Single-system multifocal Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_687733 Label(s): Pulmonary Langerhans cell histiocytosis - 'Pulmonary Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' - 'Pulmonary Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_687730 Label(s): Unifocal Langerhans cell histiocytosis - 'Unifocal Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' - 'Unifocal Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_118128 Label(s): phosphatase and tensin homolog + 'phosphatase and tensin homolog' SubClassOf 'disease-causing germline mutation(s) in' some 'Proteus syndrome' + 'phosphatase and tensin homolog' SubClassOf 'disease-causing somatic mutation(s) in' some 'OBSOLETE: Squamous cell carcinoma of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_685082 Label(s): Pediatric acute respiratory distress syndrome - 'Pediatric acute respiratory distress syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' - 'Pediatric acute respiratory distress syndrome' SubClassOf 'disease' - 'Pediatric acute respiratory distress syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_2038 Label(s): Pulmonary arteriovenous malformation - 'Pulmonary arteriovenous malformation' SubClassOf 'part_of' some 'Rare pulmonary disease' Class: http://www.orpha.net/ORDO/Orphanet_1580 Label(s): Distal deletion 10p syndrome - 'Distal deletion 10p syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 10 syndrome' - 'Distal deletion 10p syndrome' SubClassOf 'group of disorders' + 'Distal deletion 10p syndrome' SubClassOf 'disorder' + 'Distal deletion 10p syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' + 'Distal deletion 10p syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_685017 Label(s): Combined immunodeficiency due to TBX1 deficiency - 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'disease' - 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'part_of' some 'Syndome with combined immunodeficiency due to thymic defect' - 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'disorder' - 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_1546 Label(s): Cryptococcosis - 'Cryptococcosis' SubClassOf 'part_of' some 'Rare mycosis' + 'Cryptococcosis' SubClassOf 'part_of' some 'Rare parasitic disease' Class: http://www.orpha.net/ORDO/Orphanet_658843 Label(s): Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_122097 Label(s): growth hormone releasing hormone receptor - 'growth hormone releasing hormone receptor' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IV' + 'growth hormone releasing hormone receptor' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated growth hormone deficiency type IB' Class: http://www.orpha.net/ORDO/Orphanet_686999 Label(s): Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'disorder' - 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'part_of' some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' - 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'disease' - 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'part_of' some 'Genetic lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_662829 Label(s): Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome - 'Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome' SubClassOf 'part_of' some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120881 Label(s): catenin beta 1 - 'catenin beta 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Adenoid ameloblastoma' Class: http://www.orpha.net/ORDO/Orphanet_684757 Label(s): Malformation of the anal canal and the rectum - 'Malformation of the anal canal and the rectum' SubClassOf 'Digestive tract malformation' - 'Malformation of the anal canal and the rectum' SubClassOf 'Genetic digestive tract malformation' - 'Malformation of the anal canal and the rectum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_684752 Label(s): Isolated anal canal duplication - 'Isolated anal canal duplication' SubClassOf 'part_of' some 'Malformation of the anal canal and the rectum' - 'Isolated anal canal duplication' SubClassOf 'Morphological anomaly' - 'Isolated anal canal duplication' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_535702 Label(s): bromodomain PHD finger transcription factor - 'bromodomain PHD finger transcription factor' SubClassOf 'disease-causing germline mutation(s) in' some 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' + 'bromodomain PHD finger transcription factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_446846 Label(s): fatty acyl-CoA reductase 1 - 'fatty acyl-CoA reductase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Spastic paraparesis-cataracts-speech delay syndrome' + 'fatty acyl-CoA reductase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant spastic paraplegia type 9A' Class: http://www.orpha.net/ORDO/Orphanet_91415 Label(s): OBSOLETE: Familial capillary hemangioma - 'OBSOLETE: Familial capillary hemangioma' SubClassOf 'Referred to' some 'Benign vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_689829 Label(s): Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' - 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'disease' - 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia-anophthalmia-coloboma' - 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_99906 Label(s): OBSOLETE: Farmer's lung disease - 'OBSOLETE: Farmer's lung disease' SubClassOf 'obsolete disorder' - 'OBSOLETE: Farmer's lung disease' SubClassOf 'Referred to' some 'Hypersensitivity pneumonitis' + 'OBSOLETE: Farmer's lung disease' SubClassOf 'part_of' some 'OBSOLETE: Occupational allergic alveolitis' + 'OBSOLETE: Farmer's lung disease' SubClassOf 'disorder' + 'OBSOLETE: Farmer's lung disease' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_99908 Label(s): OBSOLETE: Pigeon-breeder lung disease - 'OBSOLETE: Pigeon-breeder lung disease' SubClassOf 'obsolete disorder' - 'OBSOLETE: Pigeon-breeder lung disease' SubClassOf 'Referred to' some 'Hypersensitivity pneumonitis' + 'OBSOLETE: Pigeon-breeder lung disease' SubClassOf 'disease' + 'OBSOLETE: Pigeon-breeder lung disease' SubClassOf 'disorder' + 'OBSOLETE: Pigeon-breeder lung disease' SubClassOf 'part_of' some 'OBSOLETE: Occupational allergic alveolitis' Class: http://www.orpha.net/ORDO/Orphanet_99666 Label(s): OBSOLETE: Atlantoaxial subluxation - 'OBSOLETE: Atlantoaxial subluxation' SubClassOf 'Referred to' some 'Congenital joint dislocations' Class: http://www.orpha.net/ORDO/Orphanet_91353 Label(s): OBSOLETE: Choristoma - 'OBSOLETE: Choristoma' SubClassOf 'Referred to' some 'Syndrome or malformation associated with head and neck malformations' Class: http://www.orpha.net/ORDO/Orphanet_687424 Label(s): 10p15 microdeletion syndrome - '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' - '10p15 microdeletion syndrome' SubClassOf 'malformation syndrome' - '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '10p15 microdeletion syndrome' SubClassOf 'disorder' - '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119966 Label(s): T-box transcription factor 4 - 'T-box transcription factor 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Tetraamelia-multiple malformations syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121673 Label(s): coagulation factor V - 'coagulation factor V' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Factor V Amsterdam bleeding disorder' - 'coagulation factor V' SubClassOf 'disease-causing germline mutation(s) in' some 'Factor V Atlanta bleeding disorder' Class: http://www.orpha.net/ORDO/Orphanet_118643 Label(s): surfactant protein C - 'surfactant protein C' SubClassOf 'major susceptibility factor in' some 'Pediatric acute respiratory distress syndrome' + 'surfactant protein C' SubClassOf 'major susceptibility factor in' some 'Infant acute respiratory distress syndrome' Class: http://www.orpha.net/ORDO/Orphanet_658540 Label(s): 16q22 deletion syndrome - '16q22 deletion syndrome' SubClassOf 'malformation syndrome' + '16q22 deletion syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_160053 Label(s): apolipoprotein C3 - 'apolipoprotein C3' SubClassOf 'gene with protein product' - 'apolipoprotein C3' SubClassOf 'has_chromosomal location' value "11q23.3" - 'apolipoprotein C3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial Hyperalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_119953 Label(s): T-box transcription factor 1 - 'T-box transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to TBX1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_689938 Label(s): RELB proto-oncogene, NF-kB subunit - 'RELB proto-oncogene, NF-kB subunit' SubClassOf 'has_chromosomal location' value "19q13.32" - 'RELB proto-oncogene, NF-kB subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Combined immunodeficiency due to RELB deficiency' - 'RELB proto-oncogene, NF-kB subunit' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_448865 Label(s): centrosomal protein 104 - 'centrosomal protein 104' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_639340 Label(s): ZFP36 ring finger protein like 2 - 'ZFP36 ring finger protein like 2' SubClassOf 'part of a fusion gene in' some 'Epithelioid hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_1135 Label(s): Arrhinia-choanal atresia-microphthalmia syndrome - 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'Moved to' some 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' - 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'deprecated disorder' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'part_of' some 'Genetic nose and cavum anomaly' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'disorder' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' + 'Arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118335 Label(s): ribonuclease H2 subunit B - 'ribonuclease H2 subunit B' SubClassOf 'disease-causing germline mutation(s) in' some 'RNASEH2B-related hereditary spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_31740 Label(s): Hypersensitivity pneumonitis - 'Hypersensitivity pneumonitis' SubClassOf 'part_of' some 'Rare allergic respiratory disease' - 'Hypersensitivity pneumonitis' SubClassOf 'disease' - 'Hypersensitivity pneumonitis' SubClassOf 'part_of' some 'Exposure-related interstitial lung disease' - 'Hypersensitivity pneumonitis' SubClassOf 'disorder' + 'Hypersensitivity pneumonitis' SubClassOf 'group of disorders' + 'Hypersensitivity pneumonitis' SubClassOf 'Exposure-related interstitial lung disease' + 'Hypersensitivity pneumonitis' SubClassOf 'Rare allergic respiratory disease' Class: http://www.orpha.net/ORDO/Orphanet_36382 Label(s): OBSOLETE : Familial cervical artery dissection - 'OBSOLETE : Familial cervical artery dissection' SubClassOf 'obsolete disorder' - 'OBSOLETE : Familial cervical artery dissection' SubClassOf 'Referred to' some 'Isolated spontaneous vertebral artery dissection' + 'OBSOLETE : Familial cervical artery dissection' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' + 'OBSOLETE : Familial cervical artery dissection' SubClassOf 'disease' + 'OBSOLETE : Familial cervical artery dissection' SubClassOf 'disorder' + 'OBSOLETE : Familial cervical artery dissection' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_689234 Label(s): RNASEH2B-related hereditary spastic paraplegia - 'RNASEH2B-related hereditary spastic paraplegia' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' - 'RNASEH2B-related hereditary spastic paraplegia' SubClassOf 'disorder' - 'RNASEH2B-related hereditary spastic paraplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_674734 Label(s): lysine methyltransferase 5B - 'lysine methyltransferase 5B' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' + 'lysine methyltransferase 5B' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_686447 Label(s): IFNG-responsive severe mendelian susceptibility to mycobacterial diseases - 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'disorder' - 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' - 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_686475 Label(s): Post-selective serotonin reuptake inhibitor sexual dysfunction - 'Post-selective serotonin reuptake inhibitor sexual dysfunction' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Post-selective serotonin reuptake inhibitor sexual dysfunction' SubClassOf 'disease' - 'Post-selective serotonin reuptake inhibitor sexual dysfunction' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_477650 Label(s): Fibroblastic rheumatism - 'Fibroblastic rheumatism' SubClassOf 'part_of' some 'Rare pediatric rheumatologic disease' Class: http://www.orpha.net/ORDO/Orphanet_686488 Label(s): RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'disorder' - 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'malformation syndrome' - 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_686493 Label(s): RNA, U4 small nuclear 2 - 'RNA, U4 small nuclear 2' SubClassOf 'non coding RNA' - 'RNA, U4 small nuclear 2' SubClassOf 'has_chromosomal location' value "12q24.31" - 'RNA, U4 small nuclear 2' SubClassOf 'disease-causing germline mutation(s) in' some 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' Class: http://www.orpha.net/ORDO/Orphanet_686495 Label(s): MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' - 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'disorder' - 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' - 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_628992 Label(s): tet methylcytosine dioxygenase 3 - 'tet methylcytosine dioxygenase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' + 'tet methylcytosine dioxygenase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_140560 Label(s): ATP binding cassette subfamily A member 3 - 'ATP binding cassette subfamily A member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Neonatal acute respiratory distress syndrome' - 'ATP binding cassette subfamily A member 3' SubClassOf 'candidate gene tested in' some 'Pediatric acute respiratory distress syndrome' + 'ATP binding cassette subfamily A member 3' SubClassOf 'candidate gene tested in' some 'Infant acute respiratory distress syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166295 Label(s): Benign non-familial infantile seizures - 'Benign non-familial infantile seizures' SubClassOf 'obsolete group of disorder' + 'Benign non-familial infantile seizures' SubClassOf 'Benign partial infantile seizures' + 'Benign non-familial infantile seizures' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_86818 Label(s): Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'part_of' some 'Systemic disease with glomerulopathy as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_566739 Label(s): SATB homeobox 1 - 'SATB homeobox 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' + 'SATB homeobox 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_689397 Label(s): Poirier-Bienvenue neurodevelopmental syndrome - 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'disorder' - 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'malformation syndrome' - 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_598363 Label(s): Multisystem inflammatory syndrome in children and adults - 'Multisystem inflammatory syndrome in children and adults' SubClassOf 'part_of' some 'Rare pediatric systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_689753 Label(s): ASXL transcriptional regulator 2 - 'ASXL transcriptional regulator 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Shashi-Pena syndrome' - 'ASXL transcriptional regulator 2' SubClassOf 'has_chromosomal location' value "2p23.3" - 'ASXL transcriptional regulator 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_689750 Label(s): NOVA alternative splicing regulator 2 - 'NOVA alternative splicing regulator 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' - 'NOVA alternative splicing regulator 2' SubClassOf 'gene with protein product' - 'NOVA alternative splicing regulator 2' SubClassOf 'has_chromosomal location' value "19q13.32" Class: http://www.orpha.net/ORDO/Orphanet_683729 Label(s): protein tyrosine phosphatase non-receptor type 6 - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'has_chromosomal location' value "12p13.31" - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Bullous pyoderma gangrenosum' - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Pustular pyoderma gangrenosum' - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'major susceptibility factor in' some 'Sweet syndrome' - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Vegetative pyoderma gangrenosum' - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'gene with protein product' - 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Classic pyoderma gangrenosum' Class: http://www.orpha.net/ORDO/Orphanet_332077 Label(s): protein kinase C delta + 'protein kinase C delta' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal systemic lupus erythematosus' + 'protein kinase C delta' SubClassOf 'disease-causing germline mutation(s) in' some 'Common variable immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_684290 Label(s): Hypertrophic olivary degeneration - 'Hypertrophic olivary degeneration' SubClassOf 'part_of' some 'Rare neurodegenerative disease' - 'Hypertrophic olivary degeneration' SubClassOf 'disorder' - 'Hypertrophic olivary degeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_402570 Label(s): interferon induced with helicase C domain 1 - 'interferon induced with helicase C domain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'IFH1-related hereditary spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_676458 Label(s): FosB proto-oncogene, AP-1 transcription factor subunit - 'FosB proto-oncogene, AP-1 transcription factor subunit' SubClassOf 'part of a fusion gene in' some 'Epithelioid hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_688725 Label(s): fibulin 7 - 'fibulin 7' SubClassOf 'role in the phenotype of' some '2q13 microdeletion syndrome' - 'fibulin 7' SubClassOf 'has_chromosomal location' value "2q13" - 'fibulin 7' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_684240 Label(s): Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'disorder' - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_684232 Label(s): Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_684226 Label(s): Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome - 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'disorder' - 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_684216 Label(s): Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'malformation syndrome' - 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'disorder' - 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_689408 Label(s): Shashi-Pena syndrome - 'Shashi-Pena syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Shashi-Pena syndrome' SubClassOf 'disorder' - 'Shashi-Pena syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Shashi-Pena syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93594 Label(s): OBSOLETE: Alpha-1-antichymotrypsin deficiency - 'OBSOLETE: Alpha-1-antichymotrypsin deficiency' SubClassOf 'Referred to' some 'Biological anomaly without phenotypic characterization' Class: http://www.orpha.net/ORDO/Orphanet_691003 Label(s): TATA-box binding protein associated factor 6 - 'TATA-box binding protein associated factor 6' SubClassOf 'has_chromosomal location' value "7q22.1" - 'TATA-box binding protein associated factor 6' SubClassOf 'gene with protein product' - 'TATA-box binding protein associated factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' Class: http://www.orpha.net/ORDO/Orphanet_477814 Label(s): Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_139165 Label(s): ETS variant transcription factor 6 - 'ETS variant transcription factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal thrombocytopenia with normal platelets' + 'ETS variant transcription factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial platelet disorder with associated myeloid malignancy' Class: http://www.orpha.net/ORDO/Orphanet_260545 Label(s): ankyrin repeat domain containing 26 + 'ankyrin repeat domain containing 26' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial platelet disorder with associated myeloid malignancy' Class: http://www.orpha.net/ORDO/Orphanet_181428 Label(s): Familial Hyperalphalipoproteinemia - 'Familial Hyperalphalipoproteinemia' SubClassOf 'part_of' some 'Rare hyperlipidemia' - 'Familial Hyperalphalipoproteinemia' SubClassOf 'disorder' - 'Familial Hyperalphalipoproteinemia' SubClassOf 'biological anomaly' + 'Familial Hyperalphalipoproteinemia' SubClassOf 'Rare hyperlipidemia' + 'Familial Hyperalphalipoproteinemia' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_1935 Label(s): Early myoclonic encephalopathy - 'Early myoclonic encephalopathy' SubClassOf 'Moved to' some 'Early infantile epileptic encephalopathy' - 'Early myoclonic encephalopathy' SubClassOf 'deprecated disorder' + 'Early myoclonic encephalopathy' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' + 'Early myoclonic encephalopathy' SubClassOf 'part_of' some 'Mitochondrial substrate carrier disorder' + 'Early myoclonic encephalopathy' SubClassOf 'Clinical syndrome' + 'Early myoclonic encephalopathy' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_123090 Label(s): lamin A/C - 'lamin A/C' SubClassOf 'part of a fusion gene in' some 'Epithelioid hemangioma' Class: http://www.orpha.net/ORDO/Orphanet_291813 Label(s): collagen type IV alpha 2 chain - 'collagen type IV alpha 2 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'COL4A1/2-related familial vascular leukoencephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_684182 Label(s): phosphoglucomutase 2 like 1 - 'phosphoglucomutase 2 like 1' SubClassOf 'gene with protein product' - 'phosphoglucomutase 2 like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' - 'phosphoglucomutase 2 like 1' SubClassOf 'has_chromosomal location' value "11q13.4" Class: http://www.orpha.net/ORDO/Orphanet_57777 Label(s): NON RARE IN EUROPE: Cirrhotic cardiomyopathy - 'NON RARE IN EUROPE: Cirrhotic cardiomyopathy' SubClassOf 'non rare disorder' + 'NON RARE IN EUROPE: Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Rare parenchymal liver disease' + 'NON RARE IN EUROPE: Cirrhotic cardiomyopathy' SubClassOf 'disease' + 'NON RARE IN EUROPE: Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Non-familial hypertrophic cardiomyopathy' + 'NON RARE IN EUROPE: Cirrhotic cardiomyopathy' SubClassOf 'part_of' some 'Non-familial dilated cardiomyopathy' + 'NON RARE IN EUROPE: Cirrhotic cardiomyopathy' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_2250 Label(s): Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Nose and cavum anomaly' - 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'part_of' some 'Genetic nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_64545 Label(s): Benign idiopathic neonatal seizures - 'Benign idiopathic neonatal seizures' SubClassOf 'Moved to' some 'Self-limited neonatal epilepsy' - 'Benign idiopathic neonatal seizures' SubClassOf 'deprecated disorder' + 'Benign idiopathic neonatal seizures' SubClassOf 'disease' + 'Benign idiopathic neonatal seizures' SubClassOf 'disorder' + 'Benign idiopathic neonatal seizures' SubClassOf 'part_of' some 'Neonatal epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_689430 Label(s): Adenoid ameloblastoma - 'Adenoid ameloblastoma' SubClassOf 'disease' - 'Adenoid ameloblastoma' SubClassOf 'part_of' some 'Rare odontogenic tumor' - 'Adenoid ameloblastoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_689422 Label(s): Okur-Chung neurodevelopmental syndrome - 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'malformation syndrome' - 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'disorder' - 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_119662 Label(s): AMMECR nuclear protein 1 - 'AMMECR nuclear protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' + 'AMMECR nuclear protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_689401 Label(s): Acquired hypothalamic obesity - 'Acquired hypothalamic obesity' SubClassOf 'disease' - 'Acquired hypothalamic obesity' SubClassOf 'disorder' - 'Acquired hypothalamic obesity' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_426073 Label(s): salt inducible kinase 1 + 'salt inducible kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Early myoclonic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_684247 Label(s): Isolated growth hormone deficiency type IV - 'Isolated growth hormone deficiency type IV' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' - 'Isolated growth hormone deficiency type IV' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_684762 Label(s): vacuolar protein sorting 4 homolog A - 'vacuolar protein sorting 4 homolog A' SubClassOf 'gene with protein product' - 'vacuolar protein sorting 4 homolog A' SubClassOf 'has_chromosomal location' value "16q23.1" - 'vacuolar protein sorting 4 homolog A' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_500481 Label(s): OBSOLETE: Squamous cell carcinoma of salivary glands - 'OBSOLETE: Squamous cell carcinoma of salivary glands' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: Squamous cell carcinoma of salivary glands' SubClassOf 'subtype of a disorder' + 'OBSOLETE: Squamous cell carcinoma of salivary glands' SubClassOf 'part_of' some 'Malignant epithelial tumor of salivary glands' Class: http://www.orpha.net/ORDO/Orphanet_183879 Label(s): forkhead box N1 - 'forkhead box N1' SubClassOf 'disease-causing germline mutation(s) in' some 'T-cell immunodeficiency with thymic aplasia' - 'forkhead box N1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to FOXN1 haploinsufficiency' Class: http://www.orpha.net/ORDO/Orphanet_686556 Label(s): Isolated congenital cholesteatoma of the middle ear - 'Isolated congenital cholesteatoma of the middle ear' SubClassOf 'disorder' - 'Isolated congenital cholesteatoma of the middle ear' SubClassOf 'Morphological anomaly' - 'Isolated congenital cholesteatoma of the middle ear' SubClassOf 'part_of' some 'Middle and/or inner ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_357329 Label(s): Combined immunodeficiency due to IL21R deficiency - 'Combined immunodeficiency due to IL21R deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to IL21R deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_684305 Label(s): NOCGUS syndrome - 'NOCGUS syndrome' SubClassOf 'disorder' - 'NOCGUS syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' - 'NOCGUS syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'NOCGUS syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'NOCGUS syndrome' SubClassOf 'part_of' some 'Rare disorder with corneal involvement as a major feature' - 'NOCGUS syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_160331 Label(s): phospholamban - 'phospholamban' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant' Class: http://www.orpha.net/ORDO/Orphanet_79506 Label(s): OBSOLETE: Cholesterol-ester transfer protein deficiency - 'OBSOLETE: Cholesterol-ester transfer protein deficiency' SubClassOf 'Referred to' some 'Familial Hyperalphalipoproteinemia' - 'OBSOLETE: Cholesterol-ester transfer protein deficiency' SubClassOf 'obsolete disorder' + 'OBSOLETE: Cholesterol-ester transfer protein deficiency' SubClassOf 'part_of' some 'Familial Hyperalphalipoproteinemia' + 'OBSOLETE: Cholesterol-ester transfer protein deficiency' SubClassOf 'disease' + 'OBSOLETE: Cholesterol-ester transfer protein deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_629039 Label(s): Yip1 interacting factor homolog B, membrane trafficking protein - 'Yip1 interacting factor homolog B, membrane trafficking protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' + 'Yip1 interacting factor homolog B, membrane trafficking protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_686498 Label(s): CTR9 homolog, Paf1/RNA polymerase II complex component - 'CTR9 homolog, Paf1/RNA polymerase II complex component' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' - 'CTR9 homolog, Paf1/RNA polymerase II complex component' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_686482 Label(s): BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome - 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' - 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'disorder' - 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_686468 Label(s): Post 5-alpha-reductase inhibitors treatment syndrome - 'Post 5-alpha-reductase inhibitors treatment syndrome' SubClassOf 'disorder' - 'Post 5-alpha-reductase inhibitors treatment syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' - 'Post 5-alpha-reductase inhibitors treatment syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_183713 Label(s): OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency - 'OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency' SubClassOf 'obsolete disorder' + 'OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency' SubClassOf 'disorder' + 'OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency' SubClassOf 'disease' + 'OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' Class: http://www.orpha.net/ORDO/Orphanet_357237 Label(s): Combined immunodeficiency due to CARD11 deficiency - 'Combined immunodeficiency due to CARD11 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to CARD11 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_120690 Label(s): collagen type XI alpha 1 chain - 'collagen type XI alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_689223 Label(s): phospholipase A and acyltransferase 3 - 'phospholipase A and acyltransferase 3' SubClassOf 'gene with protein product' - 'phospholipase A and acyltransferase 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' - 'phospholipase A and acyltransferase 3' SubClassOf 'has_chromosomal location' value "11q12.3-q13.1" Class: http://www.orpha.net/ORDO/Orphanet_689221 Label(s): interferon regulatory factor 1 - 'interferon regulatory factor 1' SubClassOf 'has_chromosomal location' value "5q31.1" - 'interferon regulatory factor 1' SubClassOf 'gene with protein product' - 'interferon regulatory factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_397964 Label(s): Combined immunodeficiency due to MALT1 deficiency - 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal Ig and poor specific antibody response' + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_231397 Label(s): SET binding protein 1 - 'SET binding protein 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'SET binding protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123465 Label(s): MPL proto-oncogene, thrombopoietin receptor + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'disease-causing somatic mutation(s) in' some 'Polycythemia vera' Class: http://www.orpha.net/ORDO/Orphanet_183663 Label(s): Hyper-IgM syndrome with susceptibility to opportunistic infections - 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_688995 Label(s): Scarlet fever - 'Scarlet fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' - 'Scarlet fever' SubClassOf 'disorder' - 'Scarlet fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268347 Label(s): nicastrin - 'nicastrin' SubClassOf 'gene with protein product' - 'nicastrin' SubClassOf 'disease-causing germline mutation(s) in' some 'PASH syndrome' - 'nicastrin' SubClassOf 'has_chromosomal location' value "1q23.2" Class: http://www.orpha.net/ORDO/Orphanet_268325 Label(s): tet methylcytosine dioxygenase 2 + 'tet methylcytosine dioxygenase 2' SubClassOf 'disease-causing somatic mutation(s) in' some 'Polycythemia vera' Class: http://www.orpha.net/ORDO/Orphanet_123324 Label(s): MAGE family member L2 - 'MAGE family member L2' SubClassOf 'disease-causing germline mutation(s) in' some 'Fetal akinesia deformation sequence' Class: http://www.orpha.net/ORDO/Orphanet_2787 Label(s): OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome - 'OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'Referred to' some 'Primary bone dysplasia with decreased bone density' - 'OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'obsolete disorder' + 'OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with decreased bone density' + 'OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'disorder' + 'OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_171220 Label(s): Rectal duplication - 'Rectal duplication' SubClassOf 'part_of' some 'Malformation of the anal canal and the rectum' + 'Rectal duplication' SubClassOf 'part_of' some 'Non-syndromic intestinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_436151 Label(s): OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome - 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'obsolete disorder' - 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'Referred to' some 'Non-specific syndromic intellectual disability' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'disease' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_689021 Label(s): Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome - 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' - 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'disorder' - 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_689001 Label(s): Isolated spontaneous vertebral artery dissection - 'Isolated spontaneous vertebral artery dissection' SubClassOf 'disorder' - 'Isolated spontaneous vertebral artery dissection' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' - 'Isolated spontaneous vertebral artery dissection' SubClassOf 'disease' - 'Isolated spontaneous vertebral artery dissection' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_686462 Label(s): Non-fibrotic hypersensitivity pneumonitis - 'Non-fibrotic hypersensitivity pneumonitis' SubClassOf 'subtype of a disorder' - 'Non-fibrotic hypersensitivity pneumonitis' SubClassOf 'part_of' some 'Hypersensitivity pneumonitis' Class: http://www.orpha.net/ORDO/Orphanet_458247 Label(s): PLAG1 zinc finger + 'PLAG1 zinc finger' SubClassOf 'part of a fusion gene in' some 'OBSOLETE: Pleomorphic salivary gland adenoma' Class: http://www.orpha.net/ORDO/Orphanet_119357 Label(s): cholesteryl ester transfer protein - 'cholesteryl ester transfer protein' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial Hyperalphalipoproteinemia' + 'cholesteryl ester transfer protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: Cholesterol-ester transfer protein deficiency' Class: http://www.orpha.net/ORDO/Orphanet_476113 Label(s): Combined immunodeficiency due to TFRC deficiency - 'Combined immunodeficiency due to TFRC deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins' + 'Combined immunodeficiency due to TFRC deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' ################ @Classes new to this version 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 'STAT1-related 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_422348 Label(s): protein kinase D1 + 'protein kinase D1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of salivary glands' + 'protein kinase D1' SubClassOf 'gene with protein product' + 'protein kinase D1' SubClassOf 'has_chromosomal location' value "14q12" ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_684742 Label(s): 2q13 microdeletion syndrome + '2q13 microdeletion syndrome' SubClassOf 'malformation syndrome' + '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + '2q13 microdeletion syndrome' SubClassOf 'disorder' + '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 2 syndrome' + '2q13 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_688727 Label(s): transmembrane protein 87B + 'transmembrane protein 87B' SubClassOf 'has_chromosomal location' value "2q13" + 'transmembrane protein 87B' SubClassOf 'role in the phenotype of' some '2q13 microdeletion syndrome' + 'transmembrane protein 87B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_688720 Label(s): WD repeat domain 37 + 'WD repeat domain 37' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'NOCGUS syndrome' + 'WD repeat domain 37' SubClassOf 'has_chromosomal location' value "10p15.3" + 'WD repeat domain 37' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_688702 Label(s): scavenger receptor class B member 1 + 'scavenger receptor class B member 1' SubClassOf 'gene with protein product' + 'scavenger receptor class B member 1' SubClassOf 'has_chromosomal location' value "12q24.31" + 'scavenger receptor class B member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial Hyperalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_688649 Label(s): Isolated adrenal medullary hyperplasia + 'Isolated adrenal medullary hyperplasia' SubClassOf 'disorder' + 'Isolated adrenal medullary hyperplasia' SubClassOf 'part_of' some 'Rare adrenal disease' + 'Isolated adrenal medullary hyperplasia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_688647 Label(s): polycomb group ring finger 2 + 'polycomb group ring finger 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Turnpenny-Fry syndrome' + 'polycomb group ring finger 2' SubClassOf 'has_chromosomal location' value "17q12" + 'polycomb group ring finger 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_688642 Label(s): Turnpenny-Fry syndrome + 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Turnpenny-Fry syndrome' SubClassOf 'malformation syndrome' + 'Turnpenny-Fry syndrome' SubClassOf 'disorder' + 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Turnpenny-Fry syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_687695 Label(s): 10p13-p14 deletion syndrome + '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Syndome with combined immunodeficiency due to thymic defect' + '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '10p13-p14 deletion syndrome' SubClassOf 'malformation syndrome' + '10p13-p14 deletion syndrome' SubClassOf 'disorder' + '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '10p13-p14 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_685004 Label(s): Primary pericardial mesothelioma + 'Primary pericardial mesothelioma' SubClassOf 'disorder' + 'Primary pericardial mesothelioma' SubClassOf 'disease' + 'Primary pericardial mesothelioma' SubClassOf 'part_of' some 'Rare cardiac tumor' Class: http://www.orpha.net/ORDO/Orphanet_685010 Label(s): Mesothelioma of the tunica vaginalis + 'Mesothelioma of the tunica vaginalis' SubClassOf 'disorder' + 'Mesothelioma of the tunica vaginalis' SubClassOf 'disease' + 'Mesothelioma of the tunica vaginalis' SubClassOf 'part_of' some 'Tumor of testis and paratestis' Class: http://www.orpha.net/ORDO/Orphanet_685067 Label(s): Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome + 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' + 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'disease' + 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'disorder' + 'Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_683720 Label(s): ROS proto-oncogene 1, receptor tyrosine kinase + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Cholangiocarcinoma' + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'gene with protein product' + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Giant cell glioblastoma' + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'has_chromosomal location' value "6q22.1" Class: http://www.orpha.net/ORDO/Orphanet_688594 Label(s): Combined immunodeficiency due to RELB deficiency + 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'disorder' + 'Combined immunodeficiency due to RELB deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal Ig and poor specific antibody response' Class: http://www.orpha.net/ORDO/Orphanet_688581 Label(s): Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'disorder' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'malformation syndrome' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease' Class: http://www.orpha.net/ORDO/Orphanet_688571 Label(s): Combined immunodeficiency with low immunoglobulins + 'Combined immunodeficiency with low immunoglobulins' SubClassOf 'group of disorders' + 'Combined immunodeficiency with low immunoglobulins' SubClassOf 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_688563 Label(s): Combined immunodeficiency with normal Ig and poor specific antibody response + 'Combined immunodeficiency with normal Ig and poor specific antibody response' SubClassOf 'group of disorders' + 'Combined immunodeficiency with normal Ig and poor specific antibody response' SubClassOf 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_689822 Label(s): Structural heart defects-renal anomalies syndrome + 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Structural heart defects-renal anomalies syndrome' SubClassOf 'disorder' + 'Structural heart defects-renal anomalies syndrome' SubClassOf 'malformation syndrome' + 'Structural heart defects-renal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_688523 Label(s): Splenic venous malformation + 'Splenic venous malformation' SubClassOf 'disease' + 'Splenic venous malformation' SubClassOf 'disorder' + 'Splenic venous malformation' SubClassOf 'part_of' some 'Rare venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_686465 Label(s): Fibrotic hypersensitivity pneumonitis + 'Fibrotic hypersensitivity pneumonitis' SubClassOf 'part_of' some 'Hypersensitivity pneumonitis' + 'Fibrotic hypersensitivity pneumonitis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_687741 Label(s): Multisystem Langerhans cell histiocytosis + 'Multisystem Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' + 'Multisystem Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_688543 Label(s): Reticular dysgenesis-like severe combined immunodeficiency + 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'disorder' + 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'disease' + 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_689237 Label(s): RAS like proto-oncogene A + 'RAS like proto-oncogene A' SubClassOf 'has_chromosomal location' value "7p14.1" + 'RAS like proto-oncogene A' SubClassOf 'gene with protein product' + 'RAS like proto-oncogene A' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_690420 Label(s): tripartite motif containing 22 + 'tripartite motif containing 22' SubClassOf 'has_chromosomal location' value "11p15.4" + 'tripartite motif containing 22' SubClassOf 'disease-causing germline mutation(s) in' some 'TRIM22-related inflammatory bowel disease' + 'tripartite motif containing 22' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_689231 Label(s): IFH1-related hereditary spastic paraplegia + 'IFH1-related hereditary spastic paraplegia' SubClassOf 'disease' + 'IFH1-related hereditary spastic paraplegia' SubClassOf 'disorder' + 'IFH1-related hereditary spastic paraplegia' SubClassOf 'part_of' some 'Autosomal dominant pure spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_690417 Label(s): alkaline phosphatase, intestinal + 'alkaline phosphatase, intestinal' SubClassOf 'gene with protein product' + 'alkaline phosphatase, intestinal' SubClassOf 'has_chromosomal location' value "2q37.1" + 'alkaline phosphatase, intestinal' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'ALPI-related inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_687738 Label(s): Single-system multifocal Langerhans cell histiocytosis + 'Single-system multifocal Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' + 'Single-system multifocal Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_687733 Label(s): Pulmonary Langerhans cell histiocytosis + 'Pulmonary Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' + 'Pulmonary Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_687730 Label(s): Unifocal Langerhans cell histiocytosis + 'Unifocal Langerhans cell histiocytosis' SubClassOf 'subtype of a disorder' + 'Unifocal Langerhans cell histiocytosis' SubClassOf 'part_of' some 'Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_685082 Label(s): Pediatric acute respiratory distress syndrome + 'Pediatric acute respiratory distress syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to childhood due to alveolar structure disorder' + 'Pediatric acute respiratory distress syndrome' SubClassOf 'disease' + 'Pediatric acute respiratory distress syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_685017 Label(s): Combined immunodeficiency due to TBX1 deficiency + 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'disease' + 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'part_of' some 'Syndome with combined immunodeficiency due to thymic defect' + 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'disorder' + 'Combined immunodeficiency due to TBX1 deficiency' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_686999 Label(s): Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome + 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'disorder' + 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'part_of' some 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' + 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'disease' + 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' SubClassOf 'part_of' some 'Genetic lipodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_684757 Label(s): Malformation of the anal canal and the rectum + 'Malformation of the anal canal and the rectum' SubClassOf 'Digestive tract malformation' + 'Malformation of the anal canal and the rectum' SubClassOf 'Genetic digestive tract malformation' + 'Malformation of the anal canal and the rectum' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_684752 Label(s): Isolated anal canal duplication + 'Isolated anal canal duplication' SubClassOf 'part_of' some 'Malformation of the anal canal and the rectum' + 'Isolated anal canal duplication' SubClassOf 'Morphological anomaly' + 'Isolated anal canal duplication' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_689829 Label(s): Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome + 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Syndromic visceral malformation' + 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'disease' + 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Syndromic microphthalmia-anophthalmia-coloboma' + 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_687424 Label(s): 10p15 microdeletion syndrome + '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 10 syndrome' + '10p15 microdeletion syndrome' SubClassOf 'malformation syndrome' + '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '10p15 microdeletion syndrome' SubClassOf 'disorder' + '10p15 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_160053 Label(s): apolipoprotein C3 + 'apolipoprotein C3' SubClassOf 'gene with protein product' + 'apolipoprotein C3' SubClassOf 'has_chromosomal location' value "11q23.3" + 'apolipoprotein C3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial Hyperalphalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_689938 Label(s): RELB proto-oncogene, NF-kB subunit + 'RELB proto-oncogene, NF-kB subunit' SubClassOf 'has_chromosomal location' value "19q13.32" + 'RELB proto-oncogene, NF-kB subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Combined immunodeficiency due to RELB deficiency' + 'RELB proto-oncogene, NF-kB subunit' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_689234 Label(s): RNASEH2B-related hereditary spastic paraplegia + 'RNASEH2B-related hereditary spastic paraplegia' SubClassOf 'part_of' some 'Autosomal recessive pure spastic paraplegia' + 'RNASEH2B-related hereditary spastic paraplegia' SubClassOf 'disorder' + 'RNASEH2B-related hereditary spastic paraplegia' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_686447 Label(s): IFNG-responsive severe mendelian susceptibility to mycobacterial diseases + 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'disorder' + 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'disease' + 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' SubClassOf 'part_of' some 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' Class: http://www.orpha.net/ORDO/Orphanet_686475 Label(s): Post-selective serotonin reuptake inhibitor sexual dysfunction + 'Post-selective serotonin reuptake inhibitor sexual dysfunction' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Post-selective serotonin reuptake inhibitor sexual dysfunction' SubClassOf 'disease' + 'Post-selective serotonin reuptake inhibitor sexual dysfunction' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_686488 Label(s): RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome + 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'disorder' + 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'malformation syndrome' + 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' + 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_686493 Label(s): RNA, U4 small nuclear 2 + 'RNA, U4 small nuclear 2' SubClassOf 'non coding RNA' + 'RNA, U4 small nuclear 2' SubClassOf 'has_chromosomal location' value "12q24.31" + 'RNA, U4 small nuclear 2' SubClassOf 'disease-causing germline mutation(s) in' some 'RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome' Class: http://www.orpha.net/ORDO/Orphanet_686495 Label(s): MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome + 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Genetic polyendocrinopathy' + 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'disorder' + 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'part_of' some 'Polyendocrinopathy' + 'MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_689397 Label(s): Poirier-Bienvenue neurodevelopmental syndrome + 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'disorder' + 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'malformation syndrome' + 'Poirier-Bienvenue neurodevelopmental syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_689753 Label(s): ASXL transcriptional regulator 2 + 'ASXL transcriptional regulator 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Shashi-Pena syndrome' + 'ASXL transcriptional regulator 2' SubClassOf 'has_chromosomal location' value "2p23.3" + 'ASXL transcriptional regulator 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_689750 Label(s): NOVA alternative splicing regulator 2 + 'NOVA alternative splicing regulator 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'NOVA alternative splicing regulator 2' SubClassOf 'gene with protein product' + 'NOVA alternative splicing regulator 2' SubClassOf 'has_chromosomal location' value "19q13.32" Class: http://www.orpha.net/ORDO/Orphanet_683729 Label(s): protein tyrosine phosphatase non-receptor type 6 + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'has_chromosomal location' value "12p13.31" + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Bullous pyoderma gangrenosum' + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Pustular pyoderma gangrenosum' + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'major susceptibility factor in' some 'Sweet syndrome' + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Vegetative pyoderma gangrenosum' + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'gene with protein product' + 'protein tyrosine phosphatase non-receptor type 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Classic pyoderma gangrenosum' Class: http://www.orpha.net/ORDO/Orphanet_684290 Label(s): Hypertrophic olivary degeneration + 'Hypertrophic olivary degeneration' SubClassOf 'part_of' some 'Rare neurodegenerative disease' + 'Hypertrophic olivary degeneration' SubClassOf 'disorder' + 'Hypertrophic olivary degeneration' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_688725 Label(s): fibulin 7 + 'fibulin 7' SubClassOf 'role in the phenotype of' some '2q13 microdeletion syndrome' + 'fibulin 7' SubClassOf 'has_chromosomal location' value "2q13" + 'fibulin 7' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_684240 Label(s): Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'disorder' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_684232 Label(s): Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component' + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with odontal and/or periodontal component' + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_684226 Label(s): Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome + 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'disorder' + 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_684216 Label(s): Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome + 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'malformation syndrome' + 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'disorder' + 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_689408 Label(s): Shashi-Pena syndrome + 'Shashi-Pena syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shashi-Pena syndrome' SubClassOf 'disorder' + 'Shashi-Pena syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Shashi-Pena syndrome' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_691003 Label(s): TATA-box binding protein associated factor 6 + 'TATA-box binding protein associated factor 6' SubClassOf 'has_chromosomal location' value "7q22.1" + 'TATA-box binding protein associated factor 6' SubClassOf 'gene with protein product' + 'TATA-box binding protein associated factor 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' Class: http://www.orpha.net/ORDO/Orphanet_684182 Label(s): phosphoglucomutase 2 like 1 + 'phosphoglucomutase 2 like 1' SubClassOf 'gene with protein product' + 'phosphoglucomutase 2 like 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'phosphoglucomutase 2 like 1' SubClassOf 'has_chromosomal location' value "11q13.4" Class: http://www.orpha.net/ORDO/Orphanet_689430 Label(s): Adenoid ameloblastoma + 'Adenoid ameloblastoma' SubClassOf 'disease' + 'Adenoid ameloblastoma' SubClassOf 'part_of' some 'Rare odontogenic tumor' + 'Adenoid ameloblastoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_689422 Label(s): Okur-Chung neurodevelopmental syndrome + 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'malformation syndrome' + 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'disorder' + 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_689401 Label(s): Acquired hypothalamic obesity + 'Acquired hypothalamic obesity' SubClassOf 'disease' + 'Acquired hypothalamic obesity' SubClassOf 'disorder' + 'Acquired hypothalamic obesity' SubClassOf 'part_of' some 'Rare hypothalamic or pituitary disease' Class: http://www.orpha.net/ORDO/Orphanet_684247 Label(s): Isolated growth hormone deficiency type IV + 'Isolated growth hormone deficiency type IV' SubClassOf 'part_of' some 'Non-acquired isolated growth hormone deficiency' + 'Isolated growth hormone deficiency type IV' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_684762 Label(s): vacuolar protein sorting 4 homolog A + 'vacuolar protein sorting 4 homolog A' SubClassOf 'gene with protein product' + 'vacuolar protein sorting 4 homolog A' SubClassOf 'has_chromosomal location' value "16q23.1" + 'vacuolar protein sorting 4 homolog A' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_686556 Label(s): Isolated congenital cholesteatoma of the middle ear + 'Isolated congenital cholesteatoma of the middle ear' SubClassOf 'disorder' + 'Isolated congenital cholesteatoma of the middle ear' SubClassOf 'Morphological anomaly' + 'Isolated congenital cholesteatoma of the middle ear' SubClassOf 'part_of' some 'Middle and/or inner ear anomaly' Class: http://www.orpha.net/ORDO/Orphanet_684305 Label(s): NOCGUS syndrome + 'NOCGUS syndrome' SubClassOf 'disorder' + 'NOCGUS syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'NOCGUS syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'NOCGUS syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'NOCGUS syndrome' SubClassOf 'part_of' some 'Rare disorder with corneal involvement as a major feature' + 'NOCGUS syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_686498 Label(s): CTR9 homolog, Paf1/RNA polymerase II complex component + 'CTR9 homolog, Paf1/RNA polymerase II complex component' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'CTR9 homolog, Paf1/RNA polymerase II complex component' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_686482 Label(s): BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome + 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'malformation syndrome' + 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'disorder' + 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_686468 Label(s): Post 5-alpha-reductase inhibitors treatment syndrome + 'Post 5-alpha-reductase inhibitors treatment syndrome' SubClassOf 'disorder' + 'Post 5-alpha-reductase inhibitors treatment syndrome' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Post 5-alpha-reductase inhibitors treatment syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_689223 Label(s): phospholipase A and acyltransferase 3 + 'phospholipase A and acyltransferase 3' SubClassOf 'gene with protein product' + 'phospholipase A and acyltransferase 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome' + 'phospholipase A and acyltransferase 3' SubClassOf 'has_chromosomal location' value "11q12.3-q13.1" Class: http://www.orpha.net/ORDO/Orphanet_689221 Label(s): interferon regulatory factor 1 + 'interferon regulatory factor 1' SubClassOf 'has_chromosomal location' value "5q31.1" + 'interferon regulatory factor 1' SubClassOf 'gene with protein product' + 'interferon regulatory factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'IFNG-responsive severe mendelian susceptibility to mycobacterial diseases' Class: http://www.orpha.net/ORDO/Orphanet_688995 Label(s): Scarlet fever + 'Scarlet fever' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Scarlet fever' SubClassOf 'disorder' + 'Scarlet fever' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_268347 Label(s): nicastrin + 'nicastrin' SubClassOf 'gene with protein product' + 'nicastrin' SubClassOf 'disease-causing germline mutation(s) in' some 'PASH syndrome' + 'nicastrin' SubClassOf 'has_chromosomal location' value "1q23.2" Class: http://www.orpha.net/ORDO/Orphanet_689021 Label(s): Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome + 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' + 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'disorder' + 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_689001 Label(s): Isolated spontaneous vertebral artery dissection + 'Isolated spontaneous vertebral artery dissection' SubClassOf 'disorder' + 'Isolated spontaneous vertebral artery dissection' SubClassOf 'part_of' some 'Genetic central nervous system and retinal vascular disease' + 'Isolated spontaneous vertebral artery dissection' SubClassOf 'disease' + 'Isolated spontaneous vertebral artery dissection' SubClassOf 'part_of' some 'Rare central nervous system and retinal vascular disease' Class: http://www.orpha.net/ORDO/Orphanet_686462 Label(s): Non-fibrotic hypersensitivity pneumonitis + 'Non-fibrotic hypersensitivity pneumonitis' SubClassOf 'subtype of a disorder' + 'Non-fibrotic hypersensitivity pneumonitis' SubClassOf 'part_of' some 'Hypersensitivity pneumonitis'