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ORPHANET RARE DISEASE ONTOLOGY

Release notes :
Version: 2.6
Date   : 12th July 2018


The ORDO version 2.0 represents a major release of the ontology. It comes with addition of several new classes and relationships. We have added more Epidemiology data such as - Annual Incidence, Case/Family, prevalence at birth and lifetime prevalence. We also have added gain/loss of function of gene along with chromosomal location for the gene. The genetic material has now sub-types. The geographical location has also been added. In addition to this the annotation for the database cross-references mapping types have also been added i.e. if its a Narrow term mapped to Broader term etc. More modes of inheritance has also been included.

The version 2.6 is an update of the content.
	
  Ontology 1: "ORDO 2.5"
  Ontology 2: "ORDO 2.6"
  Number of classes that have changed: 929
  Number of classes that have been added: 218
  Number of classes that have been deleted: 13
 
Classes modified:
 
Class: http://www.orpha.net/ORDO/Orphanet_493592
Label: TATA-box binding protein associated factor, RNA polymerase I subunit A
+   'TATA-box binding protein associated factor, RNA polymerase I subunit A' SubClassOf 'has_chromosomal_location' value "1q41"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_221346
Label: NRAS proto-oncogene, GTPase
-   'NRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'NRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_221356
Label: lipoxygenase homology domains 1
-   'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_1486
Label: Lethal congenital contracture syndrome type 1
+   'Lethal congenital contracture syndrome type 1' SubClassOf ('present_in' some 'Finland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.96f)
 
Class: http://www.orpha.net/ORDO/Orphanet_1493
Label: Vici syndrome
+   'Vici syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
+   'Vici syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_1492
Label: Corpus callosum agenesis-double urinary collecting system syndrome
-   'Corpus callosum agenesis-double urinary collecting system syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
-   'Corpus callosum agenesis-double urinary collecting system syndrome' SubClassOf 'malformation syndrome'
+   'Corpus callosum agenesis-double urinary collecting system syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_1467
Label: Cogan syndrome
+   'Cogan syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_420549
Label: pancreatic lipase
-   'pancreatic lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic colipase deficiency'
-   'pancreatic lipase' SubClassOf 'gene with protein product'
-   'pancreatic lipase' SubClassOf 'has_chromosomal_location' value "10q25.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_1450
Label: Ring chromosome 8 syndrome
+   'Ring chromosome 8 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Ring chromosome 8 syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
+   'Ring chromosome 8 syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_459297
Label: minichromosome maintenance complex component 2
-   'minichromosome maintenance complex component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'minichromosome maintenance complex component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_2042
Label: Tracheo-esophageal fistula-hypospadias syndrome
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Genetic tracheal anomaly'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Respiratory malformation'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'malformation syndrome'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Tracheal anomaly'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Larynx anomaly'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation'
-   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation'
+   'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_228000
Label: Idiopathic CD4 lymphocytopenia
-   'Idiopathic CD4 lymphocytopenia' SubClassOf 'disease'
+   'Idiopathic CD4 lymphocytopenia' SubClassOf 'biological anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_320176
Label: structural maintenance of chromosomes flexible hinge domain containing 1
-   'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy'
-   'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy'
+   'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy'
+   'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_178389
Label: Osteopetrosis-hypogammaglobulinemia syndrome
+   'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_119164
Label: calcium voltage-gated channel auxiliary subunit beta 2
-   'calcium voltage-gated channel auxiliary subunit beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'calcium voltage-gated channel auxiliary subunit beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_119140
Label: calcium voltage-gated channel subunit alpha1 C
-   'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_2124
Label: Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
+   'Cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_30391
Label: Isolated Biliary atresia
-   'Isolated Biliary atresia' SubClassOf 'part_of' some 'Rare biliary tract disease'
+   'Isolated Biliary atresia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_498345
 
Class: http://www.orpha.net/ORDO/Orphanet_117957
Label: POU class 4 homeobox 3
-   'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_476102
Label: Hereditary pediatric Beh�et-like disease
+   'Hereditary pediatric Beh�et-like disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
 
Class: http://www.orpha.net/ORDO/Orphanet_476109
Label: Axonal hereditary motor and sensory neuropathy
-   'Axonal hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_280122
Label: sequestosome 1
-   'sequestosome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GNE myopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_1581
Label: Non-distal monosomy 10q
+   'Non-distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Non-distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_138233
Label: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
-   'hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha' SubClassOf 'Major susceptibility factor in' some 'Acute fatty liver of pregnancy'
+   'hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute fatty liver of pregnancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_233019
Label: serpin family B member 6
-   'serpin family B member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'serpin family B member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_117925
Label: DNA polymerase gamma, catalytic subunit
-   'DNA polymerase gamma, catalytic subunit' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
+   'DNA polymerase gamma, catalytic subunit' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
 
Class: http://www.orpha.net/ORDO/Orphanet_93932
Label: FG syndrome type 1
+   'FG syndrome type 1' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_2156
Label: Hirsutism-skeletal dysplasia-intellectual disability syndrome
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'malformation syndrome'
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_2151
Label: Hirschsprung disease-ganglioneuroblastoma syndrome
+   'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_42642
Label: PFAPA syndrome
+   'PFAPA syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324960
 
Class: http://www.orpha.net/ORDO/Orphanet_93953
Label: Familial thyroglossal duct cyst
+   'Familial thyroglossal duct cyst' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_493604
Label: IQ motif containing E
-   'IQ motif containing E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral'
+   'IQ motif containing E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A'
 
Class: http://www.orpha.net/ORDO/Orphanet_2176
Label: Infantile systemic hyalinosis
-   'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
-   'Infantile systemic hyalinosis' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Infantile systemic hyalinosis' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_2199
Label: Epidermolytic palmoplantar keratoderma
+   'Epidermolytic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Epidermolytic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1530
Label: Craniosynostosis-cataract syndrome
+   'Craniosynostosis-cataract syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_459321
Label: cell division cycle 14A
-   'cell division cycle 14A' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'cell division cycle 14A' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_459308
Label: CD164 molecule
-   'CD164 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'CD164 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_2216
Label: Maternal hyperthermia induced birth defects
+   'Maternal hyperthermia induced birth defects' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Maternal hyperthermia induced birth defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_244810
Label: DCC netrin 1 receptor
+   'DCC netrin 1 receptor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Kallmann syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_181121
Label: spermatogenesis associated 16
-   'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
+   'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_2257
Label: Primary pulmonary hypoplasia
+   'Primary pulmonary hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_324933
Label: Mixed autoinflammatory and autoimmune syndrome
+   'Mixed autoinflammatory and autoimmune syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_319719
 
Class: http://www.orpha.net/ORDO/Orphanet_324924
Label: Hereditary periodic fever syndrome
+   'Hereditary periodic fever syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_324939
 
Class: http://www.orpha.net/ORDO/Orphanet_117846
Label: polycystin 1, transient receptor potential channel interacting
-   'polycystin 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
+   'polycystin 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_117849
Label: polycystin 2, transient receptor potential cation channel
-   'polycystin 2, transient receptor potential cation channel' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
+   'polycystin 2, transient receptor potential cation channel' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_119068
Label: BRCA1, DNA repair associated
+   'BRCA1, DNA repair associated' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Fanconi anemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_119066
Label: B-Raf proto-oncogene, serine/threonine kinase
-   'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_117871
Label: plakophilin 2
-   'plakophilin 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
-   'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'plakophilin 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
+   'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_324977
Label: Proteasome disability syndrome
+   'Proteasome disability syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
+   'Proteasome disability syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
 
Class: http://www.orpha.net/ORDO/Orphanet_324964
Label: Chronic recurrent multifocal osteomyelitis
+   'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_119089
Label: barttin CLCNK type accessory beta subunit
-   'barttin CLCNK type accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'barttin CLCNK type accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_295163
Label: Postaxial polydactyly type A, unilateral
-   'Postaxial polydactyly type A, unilateral' SubClassOf 'clinical subtype'
-   'Postaxial polydactyly type A, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A'
+   'Postaxial polydactyly type A, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295161
Label: Polysyndactyly, bilateral
-   'Polysyndactyly, bilateral' SubClassOf 'part_of' some 'Polysyndactyly'
-   'Polysyndactyly, bilateral' SubClassOf 'clinical subtype'
+   'Polysyndactyly, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295167
Label: Postaxial polydactyly type B, unilateral
-   'Postaxial polydactyly type B, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B'
-   'Postaxial polydactyly type B, unilateral' SubClassOf 'clinical subtype'
+   'Postaxial polydactyly type B, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295165
Label: Postaxial polydactyly type A, bilateral
-   'Postaxial polydactyly type A, bilateral' SubClassOf 'clinical subtype'
-   'Postaxial polydactyly type A, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A'
+   'Postaxial polydactyly type A, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295169
Label: Postaxial polydactyly type B, bilateral
-   'Postaxial polydactyly type B, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B'
-   'Postaxial polydactyly type B, bilateral' SubClassOf 'clinical subtype'
+   'Postaxial polydactyly type B, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295171
Label: Central polydactyly of fingers, unilateral
-   'Central polydactyly of fingers, unilateral' SubClassOf 'clinical subtype'
-   'Central polydactyly of fingers, unilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers'
+   'Central polydactyly of fingers, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295173
Label: Central polydactyly of fingers, bilateral
-   'Central polydactyly of fingers, bilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers'
-   'Central polydactyly of fingers, bilateral' SubClassOf 'clinical subtype'
+   'Central polydactyly of fingers, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_1256
Label: Blepharophimosis-radioulnar synostosis syndrome
-   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye'
-   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
-   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'part_of' some 'Rare disorder with ptosis'
-   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'malformation syndrome'
+   'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_3379
Label: Distal trisomy 17q
+   'Distal trisomy 17q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_496768
Label: Vac14, PIKFYVE complex component
+   'Vac14, PIKFYVE complex component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset basal ganglia degeneration syndrome'
+   'Vac14, PIKFYVE complex component' SubClassOf 'has_chromosomal_location' value "16q22.1-q22.2"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_92
Label: Juvenile idiopathic arthritis
+   'Juvenile idiopathic arthritis' SubClassOf http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_431320
Label: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
-   'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Hereditary motor and sensory neuropathy'
+   'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Charcot-Marie-Tooth disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_1267
Label: Botulism
-   'Botulism' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'France') and ('has_annual_incidence_average_value' value 0.15f)
+   'Botulism' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'France') and ('has_annual_incidence_average_value' value 0.255f)
 
Class: http://www.orpha.net/ORDO/Orphanet_1272
Label: Fine-Lubinsky syndrome
-   'Fine-Lubinsky syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 9.0f)
+   'Fine-Lubinsky syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 18.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_242924
Label: tight junction protein 2
-   'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_420702
Label: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
-   'Autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
+   'Autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
 
Class: http://www.orpha.net/ORDO/Orphanet_459033
Label: Ataxia-oculomotor apraxia type 4
-   'Ataxia-oculomotor apraxia type 4' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 11.0f)
+   'Ataxia-oculomotor apraxia type 4' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 12.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_2291
Label: Congenital velopharyngeal incompetence
+   'Congenital velopharyngeal incompetence' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_459043
Label: membrane metalloendopeptidase
-   'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'DNAJB2-related Charcot-Marie-Tooth disease type 2'
+   'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Charcot-Marie-Tooth disease type 2T'
+   'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 43'
+   'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'MME-related autosomal dominant Charcot Marie Tooth disease type 2'
 
Class: http://www.orpha.net/ORDO/Orphanet_323464
Label: zinc finger protein 141
-   'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral'
+   'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A'
 
Class: http://www.orpha.net/ORDO/Orphanet_2374
Label: Congenital laryngeal web
+   'Congenital laryngeal web' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2373
Label: Congenital laryngomalacia
+   'Congenital laryngomalacia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Congenital laryngomalacia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_93568
Label: Juvenile polymyositis
+   'Juvenile polymyositis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_281884
Label: nodal growth differentiation factor
-   'nodal growth differentiation factor' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
+   'nodal growth differentiation factor' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_93552
Label: Pediatric systemic lupus erythematosus
+   'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_2331
Label: Kawasaki disease
+   'Kawasaki disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_294023
Label: Neonatal inflammatory skin and bowel disease
+   'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_2325
Label: Epidermolysis bullosa simplex with anodontia/hypodontia
+   'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2312
Label: Transient familial neonatal hyperbilirubinemia
+   'Transient familial neonatal hyperbilirubinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_265258
Label: RNA, U4atac small nuclear (U12-dependent splicing)
+   'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lowry-Wood syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_295107
Label: Apodia, bilateral
-   'Apodia, bilateral' SubClassOf 'clinical subtype'
-   'Apodia, bilateral' SubClassOf 'part_of' some 'Apodia'
+   'Apodia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295112
Label: Congenital absence/hypoplasia of thumb, bilateral
-   'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb'
-   'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'clinical subtype'
+   'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295110
Label: Congenital absence/hypoplasia of thumb, unilateral
-   'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb'
-   'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'clinical subtype'
+   'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295101
Label: Acheiria, unilateral
-   'Acheiria, unilateral' SubClassOf 'clinical subtype'
-   'Acheiria, unilateral' SubClassOf 'part_of' some 'Acheiria'
+   'Acheiria, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295103
Label: Acheiria, bilateral
-   'Acheiria, bilateral' SubClassOf 'clinical subtype'
-   'Acheiria, bilateral' SubClassOf 'part_of' some 'Acheiria'
+   'Acheiria, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295105
Label: Apodia, unilateral
-   'Apodia, unilateral' SubClassOf 'part_of' some 'Apodia'
-   'Apodia, unilateral' SubClassOf 'clinical subtype'
+   'Apodia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_3472
Label: Yunis-Varon syndrome
+   'Yunis-Varon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_141074
Label: External auditory canal aplasia/hypoplasia
+   'External auditory canal aplasia/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_3453
Label: Autoimmune polyendocrinopathy type 1
+   'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_3451
Label: West syndrome
-   'West syndrome' SubClassOf ('present_in' some 'Finland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
-   'West syndrome' SubClassOf ('present_in' some 'Sweden') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 4.5f)
-   'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.3f)
-   'West syndrome' SubClassOf ('present_in' some 'Iceland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
-   'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 8.0f)
+   'West syndrome' SubClassOf ('present_in' some 'Finland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
+   'West syndrome' SubClassOf ('present_in' some 'Sweden') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 4.5f)
+   'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.0f)
+   'West syndrome' SubClassOf ('present_in' some 'Iceland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
+   'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.5f)
 
Class: http://www.orpha.net/ORDO/Orphanet_295154
Label: Polydactyly of an index finger, bilateral
-   'Polydactyly of an index finger, bilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger'
-   'Polydactyly of an index finger, bilateral' SubClassOf 'clinical subtype'
+   'Polydactyly of an index finger, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295159
Label: Polysyndactyly, unilateral
-   'Polysyndactyly, unilateral' SubClassOf 'part_of' some 'Polysyndactyly'
-   'Polysyndactyly, unilateral' SubClassOf 'clinical subtype'
+   'Polysyndactyly, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_420699
Label: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
-   'Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
+   'Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
 
Class: http://www.orpha.net/ORDO/Orphanet_295152
Label: Polydactyly of an index finger, unilateral
-   'Polydactyly of an index finger, unilateral' SubClassOf 'clinical subtype'
-   'Polydactyly of an index finger, unilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger'
+   'Polydactyly of an index finger, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295150
Label: Polydactyly of a triphalangeal thumb, bilateral
-   'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb'
-   'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'clinical subtype'
+   'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295144
Label: Polydactyly of a biphalangeal thumb, unilateral
-   'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb'
-   'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'clinical subtype'
+   'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295146
Label: Polydactyly of a biphalangeal thumb, bilateral
-   'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb'
-   'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'clinical subtype'
+   'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295148
Label: Polydactyly of a triphalangeal thumb, unilateral
-   'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb'
-   'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'clinical subtype'
+   'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_180261
Label: Phyllode tumor of the breast
+   'Phyllode tumor of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor'
 
Class: http://www.orpha.net/ORDO/Orphanet_476123
Label: Intermediate Charcot-Marie-Tooth disease
-   'Intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_476116
Label: Demyelinating hereditary motor and sensory neuropathy
-   'Demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_1396
Label: Cerebrorenodigital syndrome
+   'Cerebrorenodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Cerebrorenodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_444092
Label: Autoimmune interstitial lung disease-arthritis syndrome
+   'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_497757
Label: MME-related autosomal dominant Charcot Marie Tooth disease type 2
+   'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_445129
Label: homer scaffolding protein 2
-   'homer scaffolding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'homer scaffolding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_326742
Label: clathrin heavy chain
+   'clathrin heavy chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
+   'clathrin heavy chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_397692
Label: Hereditary isolated aplastic anemia
+   'Hereditary isolated aplastic anemia' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_1328
Label: Camurati-Engelmann disease
-   'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_497764
Label: Spinocerebellar ataxia type 43
+   'Spinocerebellar ataxia type 43' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_321350
Label: MDM2 proto-oncogene
-   'MDM2 proto-oncogene' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome'
+   'MDM2 proto-oncogene' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_2477
Label: Megalencephaly
+   'Megalencephaly' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Megalencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2479
Label: Megalocornea-intellectual disability syndrome
+   'Megalocornea-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Megalocornea-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Megalocornea-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_445197
Label: Secondary vasculitis
+   'Secondary vasculitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_328924
Label: sodium voltage-gated channel alpha subunit 11
-   'sodium voltage-gated channel alpha subunit 11' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
+   'sodium voltage-gated channel alpha subunit 11' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
 
Class: http://www.orpha.net/ORDO/Orphanet_2495
Label: Meningioma
-   'Meningioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 4.52f)
+   'Meningioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 8.14f)
 
Class: http://www.orpha.net/ORDO/Orphanet_2438
Label: Hand-foot-genital syndrome
+   'Hand-foot-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Hand-foot-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_93672
Label: Juvenile dermatomyositis
+   'Juvenile dermatomyositis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_2454
Label: Familial intestinal malrotation-facial anomalies syndrome
-   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'malformation syndrome'
-   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation'
-   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_93682
Label: Pediatric Castleman disease
+   'Pediatric Castleman disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_295237
Label: Congenital patella dislocation, bilateral
-   'Congenital patella dislocation, bilateral' SubClassOf 'part_of' some 'Congenital patella dislocation'
-   'Congenital patella dislocation, bilateral' SubClassOf 'clinical subtype'
+   'Congenital patella dislocation, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_73
Label: Gorham-Stout disease
+   'Gorham-Stout disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_70
Label: Proximal spinal muscular atrophy
-   'Proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_295234
Label: Congenital patella dislocation, unilateral
-   'Congenital patella dislocation, unilateral' SubClassOf 'part_of' some 'Congenital patella dislocation'
-   'Congenital patella dislocation, unilateral' SubClassOf 'clinical subtype'
+   'Congenital patella dislocation, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_444077
Label: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
-   'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly'
+   'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
 
Class: http://www.orpha.net/ORDO/Orphanet_295209
Label: Humero-radial synostosis, unilateral
-   'Humero-radial synostosis, unilateral' SubClassOf 'clinical subtype'
-   'Humero-radial synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radial synostosis'
+   'Humero-radial synostosis, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295207
Label: Humero-radio-ulnar synostosis, bilateral
-   'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype'
-   'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis'
+   'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295205
Label: Humero-radio-ulnar synostosis, unilateral
-   'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis'
-   'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype'
+   'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_51
Label: Aicardi-Gouti�res syndrome
+   'Aicardi-Gouti�res syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_295211
Label: Humero-radial synostosis, bilateral
-   'Humero-radial synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radial synostosis'
-   'Humero-radial synostosis, bilateral' SubClassOf 'clinical subtype'
+   'Humero-radial synostosis, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_59
Label: Allan-Herndon-Dudley syndrome
+   'Allan-Herndon-Dudley syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_225329
Label: glutaredoxin and cysteine rich domain containing 1
-   'glutaredoxin and cysteine rich domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'glutaredoxin and cysteine rich domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_280406
Label: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
-   'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Primary glomerular disease'
+   'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_91138
Label: Cryoglobulinemic vasculitis
+   'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_492445
Label: receptor tyrosine kinase like orphan receptor 1
-   'receptor tyrosine kinase like orphan receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'receptor tyrosine kinase like orphan receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_281122
Label: Self-improving collodion baby
-   'Self-improving collodion baby' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_490432
Label: DDRGK domain containing 1
+   'DDRGK domain containing 1' SubClassOf 'has_chromosomal_location' value "20p13"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_492456
Label: WW domain binding protein 2
-   'WW domain binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'WW domain binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_492464
Label: solute carrier family 44 member 4
-   'solute carrier family 44 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'solute carrier family 44 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_492482
Label: EPS8 like 2
-   'EPS8 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'EPS8 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_141214
Label: Isolated congenital syngnathia
+   'Isolated congenital syngnathia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_449638
Label: RE1 silencing transcription factor
-   'RE1 silencing transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
+   'RE1 silencing transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_86911
Label: Epilepsy with myoclonic absences
+   'Epilepsy with myoclonic absences' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Epilepsy with myoclonic absences' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Epilepsy with myoclonic absences' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_86920
Label: Dermatopathia pigmentosa reticularis
+   'Dermatopathia pigmentosa reticularis' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 20.0f)
+   'Dermatopathia pigmentosa reticularis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Dermatopathia pigmentosa reticularis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Dermatopathia pigmentosa reticularis' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_1006
Label: Alopecia antibody deficiency
+   'Alopecia antibody deficiency' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects'
 
Class: http://www.orpha.net/ORDO/Orphanet_1000
Label: Ocular albinism with late-onset sensorineural deafness
-   'Ocular albinism with late-onset sensorineural deafness' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
+   'Ocular albinism with late-onset sensorineural deafness' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 9.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_326692
Label: disrupted in renal carcinoma 3
-   'disrupted in renal carcinoma 3' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
+   'disrupted in renal carcinoma 3' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_227397
Label: protein tyrosine phosphatase, receptor type Q
-   'protein tyrosine phosphatase, receptor type Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'protein tyrosine phosphatase, receptor type Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_121993
Label: gamma-aminobutyric acid type A receptor gamma2 subunit
-   'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
-   'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
+   'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
+   'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_121991
Label: gamma-aminobutyric acid type A receptor delta subunit
-   'gamma-aminobutyric acid type A receptor delta subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
+   'gamma-aminobutyric acid type A receptor delta subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_99141
Label: Lymphedema-posterior choanal atresia syndrome
+   'Lymphedema-posterior choanal atresia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Lymphedema-posterior choanal atresia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
+   'Lymphedema-posterior choanal atresia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_99108
Label: Patent foramen ovale
-   'Patent foramen ovale' SubClassOf 'part_of' some 'Atrial defect and interatrial communication'
-   'Patent foramen ovale' SubClassOf 'morphological anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_454902
Label: sphingosine-1-phosphate receptor 2
-   'sphingosine-1-phosphate receptor 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'sphingosine-1-phosphate receptor 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_270208
Label: GIPC PDZ domain containing family member 3
-   'GIPC PDZ domain containing family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'GIPC PDZ domain containing family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_99179
Label: Kandori fleck retina
+   'Kandori fleck retina' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Kandori fleck retina' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Kandori fleck retina' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_265487
Label: dpy-19 like 2
-   'dpy-19 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
+   'dpy-19 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_2549
Label: Oculoauriculovertebral spectrum with radial defects
+   'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_398091
Label: Secondary neonatal autoimmune disease
+   'Secondary neonatal autoimmune disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_2510
Label: Micro syndrome
+   'Micro syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
+   'Micro syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature'
+   'Micro syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_121930
Label: FSHD region gene 1
-   'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
+   'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_2518
Label: Autosomal recessive chorioretinopathy-microcephaly syndrome
+   'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2582
Label: Myalgia-eosinophilia syndrome associated with tryptophan
+   'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
 
Class: http://www.orpha.net/ORDO/Orphanet_2580
Label: Shoulder and girdle defects-familial intellectual disability syndrome
+   'Shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_228429
Label: Generalized congenital lipodystrophy with myopathy
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'disease'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Rare insulin-resistance syndrome'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Non-dystrophic myopathy'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic lipodystrophy'
-   'Generalized congenital lipodystrophy with myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 22.0f)
+   'Generalized congenital lipodystrophy with myopathy' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_2564
Label: Tetramelic monodactyly
+   'Tetramelic monodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_93352
Label: Spondyloepimetaphyseal dysplasia, Shohat type
-   'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
+   'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 5.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_286546
Label: chromosome 9 open reading frame 72
-   'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
-   'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
+   'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
 
Class: http://www.orpha.net/ORDO/Orphanet_2598
Label: Mitochondrial myopathy and sideroblastic anemia
+   'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_120881
Label: catenin beta 1
-   'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
-   'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Pediatric hepatocellular carcinoma'
+   'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
+   'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Pediatric hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_448640
Label: centromere protein F
+   'centromere protein F' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_506307
 
Class: http://www.orpha.net/ORDO/Orphanet_86855
Label: Plasmacytoma
+   'Plasmacytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.34f)
 
Class: http://www.orpha.net/ORDO/Orphanet_119407
Label: charged multivesicular body protein 2B
-   'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
-   'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
+   'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
 
Class: http://www.orpha.net/ORDO/Orphanet_77297
Label: Majeed syndrome
+   'Majeed syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_86873
Label: Aggressive NK-cell leukemia
-   'Aggressive NK-cell leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma'
+   'Aggressive NK-cell leukemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_512034
 
Class: http://www.orpha.net/ORDO/Orphanet_86872
Label: T-cell large granular lymphocyte leukemia
-   'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma'
+   'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_512034
 
Class: http://www.orpha.net/ORDO/Orphanet_1155
Label: Arthrogryposis due to muscular dystrophy
-   'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita'
-   'Arthrogryposis due to muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Congenital muscular dystrophy'
-   'Arthrogryposis due to muscular dystrophy' SubClassOf 'disease'
-   'Arthrogryposis due to muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Arthrogryposis due to muscular dystrophy' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_1145
Label: Infantile-onset X-linked spinal muscular atrophy
+   'Infantile-onset X-linked spinal muscular atrophy' SubClassOf 'part_of' some 'X-linked distal hereditary motor neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_141121
Label: Congenital subglottic stenosis
+   'Congenital subglottic stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_141124
Label: Congenital laryngeal cyst
-   'Congenital laryngeal cyst' SubClassOf 'malformation syndrome'
+   'Congenital laryngeal cyst' SubClassOf 'morphological anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_295091
Label: Congenital absence of thigh and lower leg with foot present, bilateral
-   'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present'
-   'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'clinical subtype'
+   'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295093
Label: Congenital absence of both forearm and hand, unilateral
-   'Congenital absence of both forearm and hand, unilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand'
-   'Congenital absence of both forearm and hand, unilateral' SubClassOf 'clinical subtype'
+   'Congenital absence of both forearm and hand, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295095
Label: Congenital absence of both forearm and hand, bilateral
-   'Congenital absence of both forearm and hand, bilateral' SubClassOf 'clinical subtype'
-   'Congenital absence of both forearm and hand, bilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand'
+   'Congenital absence of both forearm and hand, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295097
Label: Congenital absence of both lower leg and foot, unilateral
-   'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'clinical subtype'
-   'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot'
+   'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295099
Label: Congenital absence of both lower leg and foot, bilateral
-   'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'clinical subtype'
-   'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot'
+   'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295081
Label: Fibular hemimelia, unilateral
-   'Fibular hemimelia, unilateral' SubClassOf 'part_of' some 'Fibular hemimelia'
-   'Fibular hemimelia, unilateral' SubClassOf 'clinical subtype'
+   'Fibular hemimelia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295085
Label: Congenital absence of upper arm and forearm with hand present, unilateral
-   'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present'
-   'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'clinical subtype'
+   'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295083
Label: Fibular hemimelia, bilateral
-   'Fibular hemimelia, bilateral' SubClassOf 'part_of' some 'Fibular hemimelia'
-   'Fibular hemimelia, bilateral' SubClassOf 'clinical subtype'
+   'Fibular hemimelia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295089
Label: Congenital absence of thigh and lower leg with foot present, unilateral
-   'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present'
-   'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'clinical subtype'
+   'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295087
Label: Congenital absence of upper arm and forearm with hand present, bilateral
-   'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present'
-   'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'clinical subtype'
+   'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_138681
Label: SEM1, 26S proteasome complex subunit
-   'SEM1, 26S proteasome complex subunit' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
+   'SEM1, 26S proteasome complex subunit' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_295077
Label: Tibial hemimelia, unilateral
-   'Tibial hemimelia, unilateral' SubClassOf 'has_inheritance' some 'autosomal recessive'
-   'Tibial hemimelia, unilateral' SubClassOf 'part_of' some 'Tibial hemimelia'
-   'Tibial hemimelia, unilateral' SubClassOf 'has_inheritance' some 'not inherited'
-   'Tibial hemimelia, unilateral' SubClassOf 'has_inheritance' some 'autosomal dominant'
-   'Tibial hemimelia, unilateral' SubClassOf 'clinical subtype'
+   'Tibial hemimelia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295079
Label: Tibial hemimelia, bilateral
-   'Tibial hemimelia, bilateral' SubClassOf 'part_of' some 'Tibial hemimelia'
-   'Tibial hemimelia, bilateral' SubClassOf 'has_inheritance' some 'autosomal recessive'
-   'Tibial hemimelia, bilateral' SubClassOf 'has_inheritance' some 'not inherited'
-   'Tibial hemimelia, bilateral' SubClassOf 'clinical subtype'
-   'Tibial hemimelia, bilateral' SubClassOf 'has_inheritance' some 'autosomal dominant'
+   'Tibial hemimelia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295073
Label: Ulnar hemimelia, bilateral
-   'Ulnar hemimelia, bilateral' SubClassOf 'part_of' some 'Ulnar hemimelia'
-   'Ulnar hemimelia, bilateral' SubClassOf 'clinical subtype'
+   'Ulnar hemimelia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295075
Label: Ulnar hemimelia, unilateral
-   'Ulnar hemimelia, unilateral' SubClassOf 'clinical subtype'
-   'Ulnar hemimelia, unilateral' SubClassOf 'part_of' some 'Ulnar hemimelia'
+   'Ulnar hemimelia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295071
Label: Radial hemimelia, bilateral
-   'Radial hemimelia, bilateral' SubClassOf 'part_of' some 'Radial hemimelia'
-   'Radial hemimelia, bilateral' SubClassOf 'clinical subtype'
+   'Radial hemimelia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295069
Label: Radial hemimelia, unilateral
-   'Radial hemimelia, unilateral' SubClassOf 'clinical subtype'
-   'Radial hemimelia, unilateral' SubClassOf 'part_of' some 'Radial hemimelia'
+   'Radial hemimelia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295067
Label: Femoral agenesis/hypoplasia, bilateral
-   'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia'
-   'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype'
+   'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295065
Label: Femoral agenesis/hypoplasia, unilateral
-   'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia'
-   'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype'
+   'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295063
Label: Humeral agenesis/hypoplasia, bilateral
-   'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia'
-   'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype'
+   'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295061
Label: Humeral agenesis/hypoplasia, unilateral
-   'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype'
-   'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia'
+   'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295055
Label: Amelia of upper limb, bilateral
-   'Amelia of upper limb, bilateral' SubClassOf 'clinical subtype'
-   'Amelia of upper limb, bilateral' SubClassOf 'part_of' some 'Amelia of upper limb'
+   'Amelia of upper limb, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295057
Label: Amelia of lower limb, unilateral
-   'Amelia of lower limb, unilateral' SubClassOf 'part_of' some 'Amelia of lower limb'
-   'Amelia of lower limb, unilateral' SubClassOf 'clinical subtype'
+   'Amelia of lower limb, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295059
Label: Amelia of lower limb, bilateral
-   'Amelia of lower limb, bilateral' SubClassOf 'part_of' some 'Amelia of lower limb'
-   'Amelia of lower limb, bilateral' SubClassOf 'clinical subtype'
+   'Amelia of lower limb, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295053
Label: Amelia of upper limb, unilateral
-   'Amelia of upper limb, unilateral' SubClassOf 'part_of' some 'Amelia of upper limb'
-   'Amelia of upper limb, unilateral' SubClassOf 'clinical subtype'
+   'Amelia of upper limb, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_1121
Label: Radial deficiency-tibial hypoplasia syndrome
+   'Radial deficiency-tibial hypoplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Radial deficiency-tibial hypoplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_295041
Label: Patella aplasia/hypoplasia, bilateral
-   'Patella aplasia/hypoplasia, bilateral' SubClassOf 'clinical subtype'
-   'Patella aplasia/hypoplasia, bilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia'
+   'Patella aplasia/hypoplasia, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_476406
Label: Congenital generalized hypercontractile muscle stiffness syndrome
+   'Congenital generalized hypercontractile muscle stiffness syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin'
 
Class: http://www.orpha.net/ORDO/Orphanet_476403
Label: Hypercontractile muscle stiffness syndrome
-   'Hypercontractile muscle stiffness syndrome' SubClassOf 'Alpha-crystallinopathy'
+   'Hypercontractile muscle stiffness syndrome' SubClassOf 'Myofibrillar myopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_295038
Label: Patella aplasia/hypoplasia, unilateral
-   'Patella aplasia/hypoplasia, unilateral' SubClassOf 'clinical subtype'
-   'Patella aplasia/hypoplasia, unilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia'
+   'Patella aplasia/hypoplasia, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_141199
Label: Cerebrofacial arteriovenous metameric syndrome type 3
+   'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_141194
Label: Cerebrofacial arteriovenous metameric syndrome type 1
+   'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_295000
Label: Constriction rings syndrome
+   'Constriction rings syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Constriction rings syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2613
Label: Nail-patella-like renal disease
-   'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_141174
Label: Mandibular arteriovenous malformation
+   'Mandibular arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_141171
Label: Maxillary arteriovenous malformation
+   'Maxillary arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_141168
Label: Frontonasal arteriovenous malformation
+   'Frontonasal arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2633
Label: Mesomelic dwarfism, Nievergelt type
+   'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2639
Label: Fibular aplasia-complex brachydactyly syndrome
+   'Fibular aplasia-complex brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Fibular aplasia-complex brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_120929
Label: cytochrome b5 type A
-   'cytochrome b5 type A' SubClassOf 'Candidate gene tested in' some 'Hereditary methemoglobinemia'
+   'cytochrome b5 type A' SubClassOf 'Candidate gene tested in' some 'Hereditary methemoglobinemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_138722
Label: Raf-1 proto-oncogene, serine/threonine kinase
-   'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
+   'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_120932
Label: cytochrome b5 reductase 3
-   'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary methemoglobinemia'
+   'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary methemoglobinemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_1083
Label: Microlissencephaly
+   'Microlissencephaly' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature'
+   'Microlissencephaly' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_141136
Label: Hemifacial microsomia
+   'Hemifacial microsomia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_37553
Label: Cardiodysrhythmic potassium-sensitive periodic paralysis
-   'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease'
+   'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Familial long QT syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_93426
Label: Short rib dysplasia
+   'Short rib dysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect'
 
Class: http://www.orpha.net/ORDO/Orphanet_490636
Label: annexin A11
+   'annexin A11' SubClassOf 'has_chromosomal_location' value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_475300
Label: polycystin 1 like 1, transient receptor potential channel interacting
-   'polycystin 1 like 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
+   'polycystin 1 like 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_33226
Label: Waldenstr�m macroglobulinemia
-   'Waldenstr�m macroglobulinemia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
+   'Waldenstr�m macroglobulinemia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_69126
Label: Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+   'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_331716
Label: ubiquitin protein ligase E3B
-   'ubiquitin protein ligase E3B' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency'
 
Class: http://www.orpha.net/ORDO/Orphanet_138366
Label: fms related tyrosine kinase 3
-   'fms related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with minimal differentiation'
+   'fms related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with minimal differentiation'
 
Class: http://www.orpha.net/ORDO/Orphanet_120693
Label: collagen type XI alpha 2 chain
-   'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_120681
Label: cochlin
-   'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_119306
Label: cyclin dependent kinase inhibitor 2A
+   'cyclin dependent kinase inhibitor 2A' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_2785
Label: Osteopetrosis with renal tubular acidosis
-   'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2754
Label: Joubert syndrome with orofaciodigital defect
-   'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease'
+   'Joubert syndrome with orofaciodigital defect' SubClassOf 'malformation syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_270442
Label: diablo IAP-binding mitochondrial protein
-   'diablo IAP-binding mitochondrial protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'diablo IAP-binding mitochondrial protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_93164
Label: Transient pseudohypoaldosteronism
+   'Transient pseudohypoaldosteronism' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_2716
Label: Oculo-skeletal-renal syndrome
-   'Oculo-skeletal-renal syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
-   'Oculo-skeletal-renal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
-   'Oculo-skeletal-renal syndrome' SubClassOf 'malformation syndrome'
-   'Oculo-skeletal-renal syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
-   'Oculo-skeletal-renal syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Oculo-skeletal-renal syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_2719
Label: Oculocerebral hypopigmentation syndrome, Cross type
+   'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 14.0f)
+   'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_119359
Label: cripto, FRL-1, cryptic family 1
-   'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
-   'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Isolated congenitally uncorrected transposition of the great arteries'
+   'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
+   'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Isolated congenitally uncorrected transposition of the great arteries'
 
Class: http://www.orpha.net/ORDO/Orphanet_448372
Label: X-linked acrogigantism due to Xq26 microduplication
-   'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome X'
+   'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X'
 
Class: http://www.orpha.net/ORDO/Orphanet_120613
Label: Zic family member 3
-   'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Isolated congenitally uncorrected transposition of the great arteries'
-   'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
+   'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Isolated congenitally uncorrected transposition of the great arteries'
+   'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_119394
Label: checkpoint kinase 2
-   'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome'
+   'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_2792
Label: Otofaciocervical syndrome
+   'Otofaciocervical syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Otofaciocervical syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_119382
Label: cystic fibrosis transmembrane conductance regulator
-   'cystic fibrosis transmembrane conductance regulator' SubClassOf 'Candidate gene tested in' some 'Idiopathic bronchiectasis'
+   'cystic fibrosis transmembrane conductance regulator' SubClassOf 'Candidate gene tested in' some 'Idiopathic bronchiectasis'
+   'cystic fibrosis transmembrane conductance regulator' SubClassOf 'Candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_498359
 
Class: http://www.orpha.net/ORDO/Orphanet_265505
Label: carcinoembryonic antigen related cell adhesion molecule 16
-   'carcinoembryonic antigen related cell adhesion molecule 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'carcinoembryonic antigen related cell adhesion molecule 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_438982
Label: protein interacting with PRKCA 1
-   'protein interacting with PRKCA 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
+   'protein interacting with PRKCA 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_423975
Label: Neuroendocrine tumor of the small intestine
+   'Neuroendocrine tumor of the small intestine' SubClassOf http://www.orpha.net/ORDO/Orphanet_481508
 
Class: http://www.orpha.net/ORDO/Orphanet_138457
Label: telomerase RNA component
-   'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_138451
Label: telomerase reverse transcriptase
-   'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_2823
Label: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'part_of' some 'Rare neurologic disease'
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'malformation syndrome'
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
-   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'has_inheritance' some 'Inheritance with unknown mechanism'
+   'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_227077
Label: myosin binding protein C, slow type
+   'myosin binding protein C, slow type' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_498693
 
Class: http://www.orpha.net/ORDO/Orphanet_227071
Label: taperin
-   'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_445555
Label: matrix metallopeptidase 21
-   'matrix metallopeptidase 21' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Situs ambiguus'
+   'matrix metallopeptidase 21' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_227086
Label: caveolae associated protein 1
-   'caveolae associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized congenital lipodystrophy with myopathy'
+   'caveolae associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_93293
Label: Okihiro syndrome
+   'Okihiro syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_99063
Label: Shone complex
+   'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Shone complex' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Shone complex' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 100.0f)
+   'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_183
Label: Eosinophilic granulomatosis with polyangiitis
+   'Eosinophilic granulomatosis with polyangiitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.4f)
 
Class: http://www.orpha.net/ORDO/Orphanet_184
Label: Cherubism
+   'Cherubism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
 
Class: http://www.orpha.net/ORDO/Orphanet_166812
Label: claudin 14
-   'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_166803
Label: myosin IA
-   'myosin IA' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'myosin IA' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_166809
Label: crystallin mu
-   'crystallin mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'crystallin mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_166807
Label: pejvakin
-   'pejvakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'pejvakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_93270
Label: Short rib-polydactyly syndrome, Saldino-Noonan type
+   'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_166800
Label: otoancorin
-   'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_276429
Label: Hypnic headache
+   'Hypnic headache' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Hypnic headache' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_122
Label: Birt-Hogg-Dub� syndrome
+   'Birt-Hogg-Dub� syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease'
+   'Birt-Hogg-Dub� syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood'
 
Class: http://www.orpha.net/ORDO/Orphanet_166815
Label: actin gamma 1
-   'actin gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'actin gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_117
Label: Beh�et disease
+   'Beh�et disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
 
Class: http://www.orpha.net/ORDO/Orphanet_297206
Label: potassium voltage-gated channel subfamily J member 8
-   'potassium voltage-gated channel subfamily J member 8' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
+   'potassium voltage-gated channel subfamily J member 8' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_150
Label: Nasopharyngeal carcinoma
+   'Nasopharyngeal carcinoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.36f)
 
Class: http://www.orpha.net/ORDO/Orphanet_119281
Label: cadherin related 23
-   'cadherin related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'cadherin related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_142
Label: Anaplastic thyroid carcinoma
+   'Anaplastic thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
 
Class: http://www.orpha.net/ORDO/Orphanet_260583
Label: mitogen-activated protein kinase kinase kinase 1
-   'mitogen-activated protein kinase kinase kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
+   'mitogen-activated protein kinase kinase kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_122654
Label: inhibitor of growth family member 1
-   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck'
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502366
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494550
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500464
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500478
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494547
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500481
+   'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502363
 
Class: http://www.orpha.net/ORDO/Orphanet_270
Label: Oculopharyngeal muscular dystrophy
-   'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.5f)
-   'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 1 000 000')
-   'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.13f)
+   'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
+   'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_123797
Label: NK2 homeobox 5
-   'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis'
-   'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
+   'NK2 homeobox 5' SubClassOf 'Candidate gene tested in' some 'Tetralogy of Fallot'
+   'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_120433
Label: USH1 protein network component harmonin
-   'USH1 protein network component harmonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'USH1 protein network component harmonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_222
Label: Erosive pustular dermatosis of the scalp
+   'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_2964
Label: Autosomal dominant prognathism
+   'Autosomal dominant prognathism' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_439175
Label: Pediatric arterial ischemic stroke
+   'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_123772
Label: neurofibromin 1
-   'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11.2 microduplication syndrome'
+   'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11.2 microduplication syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_123777
Label: nerve growth factor
-   'nerve growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5'
+   'nerve growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5'
 
Class: http://www.orpha.net/ORDO/Orphanet_2973
Label: 46,XX disorder of sex development-anorectal anomalies syndrome
+   '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_391333
Label: tenascin C
-   'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_123710
Label: necdin, MAGE family member
-   'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
-   'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
-   'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
+   'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
+   'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
+   'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
 
Class: http://www.orpha.net/ORDO/Orphanet_406879
Label: glutaminyl-tRNA synthetase
+   'glutaminyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_119938
Label: tubulin folding cofactor E
+   'tubulin folding cofactor E' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_496756
 
Class: http://www.orpha.net/ORDO/Orphanet_119953
Label: T-box 1
+   'T-box 1' SubClassOf 'Candidate gene tested in' some 'Tetralogy of Fallot'
 
Class: http://www.orpha.net/ORDO/Orphanet_2907
Label: Hereditary acrokeratotic poikiloderma, Weary type
+   'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_2926
Label: Digital extensor muscle aplasia-polyneuropathy
-   'Digital extensor muscle aplasia-polyneuropathy' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy'
+   'Digital extensor muscle aplasia-polyneuropathy' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_2925
Label: Polymicrogyria-turricephaly-hypogenitalism syndrome
-   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'malformation syndrome'
-   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
-   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
-   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_333
Label: Farber disease
-   'Farber disease' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 80.0f)
+   'Farber disease' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 96.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_338
Label: Familial multiple fibrofolliculoma
-   'Familial multiple fibrofolliculoma' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_120461
Label: valosin containing protein
-   'valosin containing protein' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'valosin containing protein' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
 
Class: http://www.orpha.net/ORDO/Orphanet_301
Label: Ependymal tumor
-   'Ependymal tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.41f)
+   'Ependymal tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.43f)
 
Class: http://www.orpha.net/ORDO/Orphanet_358630
Label: Ras like without CAAX 1
-   'Ras like without CAAX 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
+   'Ras like without CAAX 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_460650
Label: X-ray repair cross complementing 4
-   'X-ray repair cross complementing 4' SubClassOf 'Candidate gene tested in' some 'LIG4 syndrome'
+   'X-ray repair cross complementing 4' SubClassOf 'Candidate gene tested in' some 'LIG4 syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_376917
Label: vascular endothelial growth factor C
-   'vascular endothelial growth factor C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
+   'vascular endothelial growth factor C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_94065
Label: 15q24 microdeletion syndrome
-   '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
-   '15q24 microdeletion syndrome' SubClassOf 'malformation syndrome'
-   '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
-   '15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   '15q24 microdeletion syndrome' SubClassOf 'etiological subtype'
+   '15q24 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_500163
 
Class: http://www.orpha.net/ORDO/Orphanet_94088
Label: Hereditary renal hypouricemia
+   'Hereditary renal hypouricemia' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Hereditary renal hypouricemia' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Hereditary renal hypouricemia' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_122773
Label: potassium voltage-gated channel subfamily E regulatory subunit 3
-   'potassium voltage-gated channel subfamily E regulatory subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'potassium voltage-gated channel subfamily E regulatory subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_137653
Label: Microcephaly-digital anomalies-intellectual disability syndrome
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature'
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'malformation syndrome'
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
-   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_137658
Label: Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature'
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'malformation syndrome'
+   'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_384
Label: Palmoplantar keratoderma-sclerodactyly syndrome
+   'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_122768
Label: potassium voltage-gated channel subfamily E regulatory subunit 5
-   'potassium voltage-gated channel subfamily E regulatory subunit 5' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
+   'potassium voltage-gated channel subfamily E regulatory subunit 5' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_476816
Label: double homeobox 4
-   'double homeobox 4' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
+   'double homeobox 4' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_399
Label: Huntington disease
-   'Huntington disease' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.42f)
-   'Huntington disease' SubClassOf ('present_in' some 'Sweden') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.7f)
-   'Huntington disease' SubClassOf ('present_in' some 'Slovenia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.2f)
-   'Huntington disease' SubClassOf ('present_in' some 'United States') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.9f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Taiwan, Province of China') and ('has_annual_incidence_average_value' value 0.08f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'China') and ('has_annual_incidence_average_value' value 0.046f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Australia') and ('has_annual_incidence_average_value' value 0.65f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.3f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Spain') and ('has_annual_incidence_average_value' value 0.47f)
-   'Huntington disease' SubClassOf ('present_in' some 'Greece') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.0f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Greece') and ('has_annual_incidence_average_value' value 0.33f)
-   'Huntington disease' SubClassOf ('present_in' some 'Australia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.3f)
-   'Huntington disease' SubClassOf ('present_in' some 'Iceland') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
-   'Huntington disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.7f)
-   'Huntington disease' SubClassOf ('present_in' some 'Japan') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.65f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Italy') and ('has_annual_incidence_average_value' value 0.11f)
-   'Huntington disease' SubClassOf ('present_in' some 'Ireland') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 10.6f)
-   'Huntington disease' SubClassOf ('present_in' some 'China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.37f)
-   'Huntington disease' SubClassOf ('present_in' some 'Norway') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.7f)
-   'Huntington disease' SubClassOf ('present_in' some 'Finland') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.5f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.38f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Canada') and ('has_annual_incidence_average_value' value 0.69f)
-   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Iceland') and ('has_annual_incidence_average_value' value 0.14f)
+   'Huntington disease' SubClassOf ('present_in' some 'Egypt') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 21.0f)
+   'Huntington disease' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.42f)
+   'Huntington disease' SubClassOf ('present_in' some 'Sweden') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.7f)
+   'Huntington disease' SubClassOf ('present_in' some 'Slovenia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.2f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'China') and ('has_annual_incidence_average_value' value 0.046f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Taiwan, Province of China') and ('has_annual_incidence_average_value' value 0.08f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Spain') and ('has_annual_incidence_average_value' value 0.47f)
+   'Huntington disease' SubClassOf ('present_in' some 'Greece') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.0f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Greece') and ('has_annual_incidence_average_value' value 0.33f)
+   'Huntington disease' SubClassOf ('present_in' some 'Australia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.3f)
+   'Huntington disease' SubClassOf ('present_in' some 'Ireland') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 10.6f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Italy') and ('has_annual_incidence_average_value' value 0.11f)
+   'Huntington disease' SubClassOf ('present_in' some 'China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.37f)
+   'Huntington disease' SubClassOf ('present_in' some 'Norway') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.7f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Canada') and ('has_annual_incidence_average_value' value 0.69f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Iceland') and ('has_annual_incidence_average_value' value 0.14f)
+   'Huntington disease' SubClassOf ('present_in' some 'United States') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.9f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.3f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Australia') and ('has_annual_incidence_average_value' value 0.65f)
+   'Huntington disease' SubClassOf ('present_in' some 'Cyprus') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.64f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Cyprus') and ('has_annual_incidence_average_value' value 0.12f)
+   'Huntington disease' SubClassOf ('present_in' some 'Iceland') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
+   'Huntington disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.7f)
+   'Huntington disease' SubClassOf ('present_in' some 'Japan') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.65f)
+   'Huntington disease' SubClassOf ('present_in' some 'Finland') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.5f)
+   'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.38f)
 
Class: http://www.orpha.net/ORDO/Orphanet_122756
Label: potassium voltage-gated channel subfamily A member 1
+   'potassium voltage-gated channel subfamily A member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia'
 
Class: http://www.orpha.net/ORDO/Orphanet_122744
Label: junction plakoglobin
-   'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_289377
Label: Early-onset myopathy with fatal cardiomyopathy
-   'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_120554
Label: WW domain containing oxidoreductase
-   'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
+   'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_120549
Label: Wilms tumor 1
-   'Wilms tumor 1' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
+   'Wilms tumor 1' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_137608
Label: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
+   'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_360
Label: Glioblastoma
-   'Glioblastoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.0f)
+   'Glioblastoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.2f)
 
Class: http://www.orpha.net/ORDO/Orphanet_120514
Label: wolframin ER transmembrane glycoprotein
-   'wolframin ER transmembrane glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'wolframin ER transmembrane glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_371
Label: Glycogen storage disease due to muscle phosphofructokinase deficiency
+   'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_495875
Label: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
+   'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_123821
Label: NLR family pyrin domain containing 3
-   'NLR family pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CINCA syndrome'
+   'NLR family pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CINCA syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_121654
Label: EYA transcriptional coactivator and phosphatase 4
-   'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_285081
Label: VPS35, retromer complex component
-   'VPS35, retromer complex component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary late-onset Parkinson disease'
+   'VPS35, retromer complex component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_494344
Label: RERE-related neurodevelopmental syndrome
+   'RERE-related neurodevelopmental syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_120598
Label: zinc finger protein, FOG family member 2
-   'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
+   'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_285068
Label: eukaryotic translation initiation factor 4 gamma 1
-   'eukaryotic translation initiation factor 4 gamma 1' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
+   'eukaryotic translation initiation factor 4 gamma 1' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_119896
Label: SUFU negative regulator of hedgehog signaling
+   'SUFU negative regulator of hedgehog signaling' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_122719
Label: jagged 1
-   'jagged 1' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
+   'jagged 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tetralogy of Fallot'
 
Class: http://www.orpha.net/ORDO/Orphanet_122727
Label: Janus kinase 2
-   'Janus kinase 2' SubClassOf 'Major susceptibility factor in' some 'Budd-Chiari syndrome'
+   'Janus kinase 2' SubClassOf 'Candidate gene tested in' some 'Budd-Chiari syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_119862
Label: sushi repeat containing protein, X-linked 2
-   'sushi repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Rolandic epilepsy'
+   'sushi repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Rolandic epilepsy'
 
Class: http://www.orpha.net/ORDO/Orphanet_119865
Label: sex determining region Y
-   'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
+   'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_494433
Label: MIRAGE syndrome
+   'MIRAGE syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_99324
Label: Paternal uniparental disomy of chromosome 13
+   'Paternal uniparental disomy of chromosome 13' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Paternal uniparental disomy of chromosome 13' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_69665
Label: Intrahepatic cholestasis of pregnancy
-   'Intrahepatic cholestasis of pregnancy' SubClassOf ('has_annual_incidence_range' some '1 / 1000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 1000.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_495
Label: Transgrediens et progrediens palmoplantar keratoderma
+   'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_494439
Label: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
-   'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly'
+   'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
+   'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_494444
Label: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
+   'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_463
Label: Adrenal incidentaloma
-   'Adrenal incidentaloma' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_478
Label: Kallmann syndrome
+   'Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_137754
Label: Neurological conditions associated with aminoacylase 1 deficiency
-   'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 15.0f)
+   'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_444781
Label: kinesin family member 14
+   'kinesin family member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_285106
Label: RNA polymerase III subunit A
+   'RNA polymerase III subunit A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_276152
Label: Multiple endocrine neoplasia type 4
+   'Multiple endocrine neoplasia type 4' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_123961
Label: neurotrophic receptor tyrosine kinase 1
-   'neurotrophic receptor tyrosine kinase 1' SubClassOf 'Candidate gene tested in' some 'Hereditary sensory and autonomic neuropathy type 5'
+   'neurotrophic receptor tyrosine kinase 1' SubClassOf 'Candidate gene tested in' some 'Hereditary sensory and autonomic neuropathy type 5'
 
Class: http://www.orpha.net/ORDO/Orphanet_353238
Label: STN1, CST complex subunit
-   'STN1, CST complex subunit' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'STN1, CST complex subunit' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_353231
Label: family with sequence similarity 13 member A
-   'family with sequence similarity 13 member A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'family with sequence similarity 13 member A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_138851
Label: caspase 8
-   'caspase 8' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
+   'caspase 8' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_353241
Label: ATPase phospholipid transporting 11A
-   'ATPase phospholipid transporting 11A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'ATPase phospholipid transporting 11A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_123982
Label: OFD1, centriole and centriolar satellite protein
-   'OFD1, centriole and centriolar satellite protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome type 2'
+   'OFD1, centriole and centriolar satellite protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_123974
Label: OCA2 melanosomal transmembrane protein
-   'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
-   'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
+   'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
+   'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
 
Class: http://www.orpha.net/ORDO/Orphanet_406620
Label: chloride intracellular channel 5
-   'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_353250
Label: dipeptidyl peptidase 9
-   'dipeptidyl peptidase 9' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'dipeptidyl peptidase 9' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_121752
Label: fibrillin 1
-   'fibrillin 1' SubClassOf 'Candidate gene tested in' some 'Shprintzen-Goldberg syndrome'
+   'fibrillin 1' SubClassOf 'Candidate gene tested in' some 'Shprintzen-Goldberg syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_123902
Label: nuclear receptor subfamily 0 group B member 1
-   'nuclear receptor subfamily 0 group B member 1' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
+   'nuclear receptor subfamily 0 group B member 1' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_391646
Label: Feingold syndrome type 2
-   'Feingold syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
+   'Feingold syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_96059
Label: Mosaic trisomy 4
+   'Mosaic trisomy 4' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Mosaic trisomy 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_206966
Label: Mitochondrial myopathy
-   'Mitochondrial myopathy' SubClassOf 'Muscular lipidosis'
+   'Mitochondrial myopathy' SubClassOf 'Metabolic myopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_119720
Label: secreted LY6/PLAUR domain containing 1
+   'secreted LY6/PLAUR domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type'
 
Class: http://www.orpha.net/ORDO/Orphanet_96068
Label: Mosaic trisomy 22
+   'Mosaic trisomy 22' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Mosaic trisomy 22' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96069
Label: Distal trisomy 1p36
+   'Distal trisomy 1p36' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 1p36' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_96060
Label: Mosaic trisomy 5
+   'Mosaic trisomy 5' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Mosaic trisomy 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96063
Label: Mosaic trisomy 10
+   'Mosaic trisomy 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Mosaic trisomy 10' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96070
Label: Distal trisomy 2p
+   'Distal trisomy 2p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96074
Label: Distal trisomy 7p
+   'Distal trisomy 7p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 7p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96071
Label: Distal trisomy 3p
+   'Distal trisomy 3p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 3p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96072
Label: 4p16.3 microduplication syndrome
+   '4p16.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   '4p16.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_120249
Label: triggering receptor expressed on myeloid cells 2
-   'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
-   'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
+   'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
 
Class: http://www.orpha.net/ORDO/Orphanet_96094
Label: Distal trisomy 2q
+   'Distal trisomy 2q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 2q' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_96096
Label: Distal trisomy 4q
+   'Distal trisomy 4q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 4q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96095
Label: 3q26 microduplication syndrome
+   '3q26 microduplication syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 100.0f)
+   '3q26 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   '3q26 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   '3q26 microduplication syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_96098
Label: Distal trisomy 6q
+   'Distal trisomy 6q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 6q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96097
Label: Distal trisomy 5q
+   'Distal trisomy 5q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_285156
Label: lysine acetyltransferase 6B
-   'lysine acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'lysine acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_119763
Label: synuclein alpha
-   'synuclein alpha' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
+   'synuclein alpha' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_119781
Label: SOS Ras/Rac guanine nucleotide exchange factor 1
-   'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
-   'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
+   'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
+   'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_268810
Label: Posterior meningocele
-   'Posterior meningocele' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1 / 1000') and ('has_birth_prevalence_average_value' value 100.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_120204
Label: tumor protein p53
-   'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome'
-   'tumor protein p53' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
+   'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome'
+   'tumor protein p53' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_579
Label: Mucopolysaccharidosis type 1
+   'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.19f)
+   'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.62f)
+   'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.21f)
+   'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.24f)
+   'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.23f)
+   'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.34f)
 
Class: http://www.orpha.net/ORDO/Orphanet_119771
Label: small nuclear ribonucleoprotein polypeptide N
-   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
-   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation'
-   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
-   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
+   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
+   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation'
+   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
+   'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
 
Class: http://www.orpha.net/ORDO/Orphanet_120207
Label: tumor protein p63
-   'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
+   'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_119792
Label: SRY-box 9
-   'SRY-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
+   'SRY-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_494454
Label: Vulvar adenocarcinoma
-   'Vulvar adenocarcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor'
+   'Vulvar adenocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Vulvar adenocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Vulvar adenocarcinoma' SubClassOf 'part_of' some 'Vulvar carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_494451
Label: Vulvar basal cell carcinoma
-   'Vulvar basal cell carcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor'
+   'Vulvar basal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Vulvar basal cell carcinoma' SubClassOf 'part_of' some 'Vulvar carcinoma'
+   'Vulvar basal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_494448
Label: Vulvar squamous cell carcinoma
-   'Vulvar squamous cell carcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor'
+   'Vulvar squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Vulvar squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Vulvar squamous cell carcinoma' SubClassOf 'part_of' some 'Vulvar carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_120309
Label: TSC complex subunit 1
-   'TSC complex subunit 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
+   'TSC complex subunit 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_583
Label: Mucopolysaccharidosis type 6
-   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 8.0f)
-   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 25.0f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.019f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Tunisia') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.3f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.05f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.11f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 7.85f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.03f)
+   'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.31f)
 
Class: http://www.orpha.net/ORDO/Orphanet_582
Label: Mucopolysaccharidosis type 4
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.62f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.15f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Australia') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.59f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.11f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.13f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Portugal') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.6f)
+   'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.09f)
 
Class: http://www.orpha.net/ORDO/Orphanet_581
Label: Mucopolysaccharidosis type 3
+   'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.26f)
+   'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Estonia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.62f)
+   'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
+   'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
+   'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.8f)
+   'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.25f)
 
Class: http://www.orpha.net/ORDO/Orphanet_580
Label: Mucopolysaccharidosis type 2
+   'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.74f)
+   'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.46f)
+   'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
+   'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.84f)
+   'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.29f)
+   'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Tunisia') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.29f)
 
Class: http://www.orpha.net/ORDO/Orphanet_584
Label: Mucopolysaccharidosis type 7
+   'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.038f)
+   'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.05f)
+   'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'Australia') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.047f)
+   'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.02f)
 
Class: http://www.orpha.net/ORDO/Orphanet_120315
Label: TSC complex subunit 2
-   'TSC complex subunit 2' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
+   'TSC complex subunit 2' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_494541
Label: Childhood-onset benign chorea with striatal involvement
+   'Childhood-onset benign chorea with striatal involvement' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_488601
Label: 3-ketodihydrosphingosine reductase
-   '3-ketodihydrosphingosine reductase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
+   '3-ketodihydrosphingosine reductase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_122552
Label: HtrA serine peptidase 2
+   'HtrA serine peptidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_505208
 
Class: http://www.orpha.net/ORDO/Orphanet_122538
Label: HSPB1 associated protein 1
-   'HSPB1 associated protein 1' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
+   'HSPB1 associated protein 1' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_121839
Label: folliculin
-   'folliculin' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
+   'folliculin' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_121826
Label: fragile histidine triad
-   'fragile histidine triad' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
+   'fragile histidine triad' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_121815
Label: fibroblast growth factor receptor 3
-   'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
+   'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_96112
Label: Non-distal trisomy 9q
+   'Non-distal trisomy 9q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96109
Label: Distal trisomy 22q
+   'Distal trisomy 22q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 22q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96106
Label: Distal trisomy 16q
+   'Distal trisomy 16q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 16q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96105
Label: Distal trisomy 13q
+   'Distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96107
Label: Distal trisomy 20q
+   'Distal trisomy 20q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 20q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_121872
Label: fms related tyrosine kinase 4
-   'fms related tyrosine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
+   'fms related tyrosine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_96103
Label: Distal trisomy 11q
+   'Distal trisomy 11q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 11q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96101
Label: Distal trisomy 9q
+   'Distal trisomy 9q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 9q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96100
Label: Distal trisomy 8q
+   'Distal trisomy 8q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 8q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_264450
Label: Trisomy 8p
+   'Trisomy 8p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Trisomy 8p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96145
Label: Distal monosomy 4q
+   'Distal monosomy 4q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal monosomy 4q' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_96148
Label: Distal monosomy 10q
-   'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96149
Label: Distal monosomy 12q
+   'Distal monosomy 12q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96152
Label: Distal monosomy 20q
+   'Distal monosomy 20q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96150
Label: Distal monosomy 14q
+   'Distal monosomy 14q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96123
Label: Monosomy 22
+   'Monosomy 22' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96126
Label: Distal monosomy 7p
+   'Distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_121895
Label: forkhead box E1
-   'forkhead box E1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
-   'forkhead box E1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
+   'forkhead box E1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
+   'forkhead box E1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_480773
Label: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects'
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 14.0f)
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'malformation syndrome'
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy'
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
-   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects'
+   'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_96129
Label: Distal monosomy 19p13.3
+   'Distal monosomy 19p13.3' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal monosomy 19p13.3' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96136
Label: Non-distal monosomy 7p
+   'Non-distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Non-distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_495680
Label: golgi associated PDZ and coiled-coil motif containing
-   'golgi associated PDZ and coiled-coil motif containing' SubClassOf 'Candidate gene tested in' some 'Male infertility due to globozoospermia'
+   'golgi associated PDZ and coiled-coil motif containing' SubClassOf 'Candidate gene tested in' some 'Male infertility due to globozoospermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_471062
Label: SIN3 transcription regulator family member A
+   'SIN3 transcription regulator family member A' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500166
 
Class: http://www.orpha.net/ORDO/Orphanet_96180
Label: Maternal uniparental disomy of chromosome 4
+   'Maternal uniparental disomy of chromosome 4' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Maternal uniparental disomy of chromosome 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96183
Label: Maternal uniparental disomy of chromosome 9
+   'Maternal uniparental disomy of chromosome 9' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Maternal uniparental disomy of chromosome 9' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96190
Label: Paternal uniparental disomy of chromosome 5
+   'Paternal uniparental disomy of chromosome 5' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Paternal uniparental disomy of chromosome 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96191
Label: Paternal uniparental disomy of chromosome 6
+   'Paternal uniparental disomy of chromosome 6' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Paternal uniparental disomy of chromosome 6' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96194
Label: Paternal uniparental disomy of chromosome 20
+   'Paternal uniparental disomy of chromosome 20' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Paternal uniparental disomy of chromosome 20' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96195
Label: Paternal uniparental disomy of chromosome 21
+   'Paternal uniparental disomy of chromosome 21' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Paternal uniparental disomy of chromosome 21' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96160
Label: Non-distal monosomy 12q
+   'Non-distal monosomy 12q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_138895
Label: mitochondrially encoded tRNA leucine 1 (UUA/G)
-   'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
-   'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Maternally-inherited progressive external ophthalmoplegia'
+   'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
+   'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Maternally-inherited progressive external ophthalmoplegia'
 
Class: http://www.orpha.net/ORDO/Orphanet_96168
Label: Monosomy 13q34
+   'Monosomy 13q34' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96164
Label: Non-distal monosomy 20q
+   'Non-distal monosomy 20q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_602
Label: GNE myopathy
-   'GNE myopathy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 1 000 000')
-   'GNE myopathy' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'GNE myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 1.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_600
Label: Distal myopathy with vocal cord weakness
-   'Distal myopathy with vocal cord weakness' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 42.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_96179
Label: Maternal uniparental disomy of chromosome 2
+   'Maternal uniparental disomy of chromosome 2' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Maternal uniparental disomy of chromosome 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_471012
Label: RAS related
-   'RAS related' SubClassOf 'Candidate gene tested in' some 'Noonan syndrome'
+   'RAS related' SubClassOf 'Candidate gene tested in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_97278
Label: PPoma
-   'PPoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'PPoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
 
Class: http://www.orpha.net/ORDO/Orphanet_330673
Label: regulator of telomere elongation helicase 1
-   'regulator of telomere elongation helicase 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'regulator of telomere elongation helicase 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_97279
Label: Insulinoma
-   'Insulinoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'Insulinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
 
Class: http://www.orpha.net/ORDO/Orphanet_369810
Label: leucine zipper like transcription regulator 1
-   'leucine zipper like transcription regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'leucine zipper like transcription regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_97289
Label: Thymic neuroendocrine tumor
-   'Thymic neuroendocrine tumor' SubClassOf 'part_of' some 'Neuroendocrine tumor'
+   'Thymic neuroendocrine tumor' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
 
Class: http://www.orpha.net/ORDO/Orphanet_97280
Label: Glucagonoma
-   'Glucagonoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'Glucagonoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
 
Class: http://www.orpha.net/ORDO/Orphanet_97283
Label: Somatostatinoma
-   'Somatostatinoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'Somatostatinoma' SubClassOf 'part_of' some 'Duodenal neuroendocrine tumor'
+   'Somatostatinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Somatostatinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
+   'Somatostatinoma' SubClassOf 'Jejunal neuroendocrine tumor'
 
Class: http://www.orpha.net/ORDO/Orphanet_97282
Label: VIPoma
-   'VIPoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'VIPoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
 
Class: http://www.orpha.net/ORDO/Orphanet_648
Label: Noonan syndrome
+   'Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_97253
Label: Pancreatic neuroendocrine tumor
-   'Pancreatic neuroendocrine tumor' SubClassOf 'Rare epithelial tumor of pancreas'
-   'Pancreatic neuroendocrine tumor' SubClassOf 'Gastroenteropancreatic endocrine tumor'
+   'Pancreatic neuroendocrine tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_506052
 
Class: http://www.orpha.net/ORDO/Orphanet_653
Label: Multiple endocrine neoplasia type 2
-   'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_330683
Label: purinergic receptor P2X 2
-   'purinergic receptor P2X 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'purinergic receptor P2X 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_97261
Label: GRFoma
-   'GRFoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'GRFoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
 
Class: http://www.orpha.net/ORDO/Orphanet_120345
Label: twist family bHLH transcription factor 1
-   'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Saethre-Chotzen syndrome'
+   'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Saethre-Chotzen syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_330631
Label: beta-1,3-N-acetylgalactosaminyltransferase 2
+   'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_669
Label: Otopalatodigital syndrome
-   'Otopalatodigital syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component'
-   'Otopalatodigital syndrome' SubClassOf 'has_inheritance' some 'x-linked dominant'
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome'
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
-   'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome'
-   'Otopalatodigital syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 30.0f)
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations'
-   'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Otopalatodigital syndrome spectrum disorder'
-   'Otopalatodigital syndrome' SubClassOf 'malformation syndrome'
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability'
-   'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Otopalatodigital syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_678
Label: Papillon-Lef�vre syndrome
+   'Papillon-Lef�vre syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_659
Label: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
+   'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_120326
Label: titin
-   'titin' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'titin' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_120320
Label: thyroid stimulating hormone receptor
-   'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
+   'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_137926
Label: Primary laryngeal lymphangioma
+   'Primary laryngeal lymphangioma' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Primary laryngeal lymphangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_180284
Label: Benign ductal tumor of breast
-   'Benign ductal tumor of breast' SubClassOf 'part_of' some 'Rare breast tumor'
-   'Benign ductal tumor of breast' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_411712
Label: Maternal riboflavin deficiency
-   'Maternal riboflavin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
+   'Maternal riboflavin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_137932
Label: Congenital laryngeal palsy
+   'Congenital laryngeal palsy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_364285
Label: ELMO domain containing 3
-   'ELMO domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'ELMO domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_407527
Label: myosin IC
-   'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_1822
Label: Dysplasia epiphysealis hemimelica
+   'Dysplasia epiphysealis hemimelica' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Dysplasia epiphysealis hemimelica' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.1f)
+   'Dysplasia epiphysealis hemimelica' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_410532
Label: RHO family interacting cell polarization regulator 2
-   'RHO family interacting cell polarization regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'RHO family interacting cell polarization regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_1855
Label: Spondyloenchondrodysplasia
+   'Spondyloenchondrodysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_410540
Label: vesicle associated membrane protein 7
-   'vesicle associated membrane protein 7' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
+   'vesicle associated membrane protein 7' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_71211
Label: Neuromyelitis optica
-   'Neuromyelitis optica' SubClassOf 'part_of' some 'Rare acquired eye disease'
+   'Neuromyelitis optica' SubClassOf ('present_in' some 'Japan') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.1f)
 
Class: http://www.orpha.net/ORDO/Orphanet_1801
Label: Kyphomelic dysplasia
+   'Kyphomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Kyphomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_137988
Label: adaptor related protein complex 1 sigma 2 subunit
+   'adaptor related protein complex 1 sigma 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_390766
Label: grainyhead like transcription factor 3
-   'grainyhead like transcription factor 3' SubClassOf 'Major susceptibility factor in' some 'Bifid uvula'
+   'grainyhead like transcription factor 3' SubClassOf 'Major susceptibility factor in' some 'Bifid uvula'
 
Class: http://www.orpha.net/ORDO/Orphanet_99916
Label: Malignant Sertoli-Leydig cell tumor of the ovary
+   'Malignant Sertoli-Leydig cell tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Malignant Sertoli-Leydig cell tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_121185
Label: desmocollin 2
-   'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_99901
Label: Acyl-CoA dehydrogenase 9 deficiency
-   'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 16.0f)
+   'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 23.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_309025
Label: Mevalonate kinase deficiency
+   'Mevalonate kinase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 300.0f)
+   'Mevalonate kinase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
 
Class: http://www.orpha.net/ORDO/Orphanet_783
Label: Rubinstein-Taybi syndrome
-   'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_797
Label: Sarcoidosis
+   'Sarcoidosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_121193
Label: desmoglein 2
-   'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_121196
Label: desmoplakin
-   'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
-   'desmoplakin' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'desmoplakin' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_761
Label: Immunoglobulin A vasculitis
+   'Immunoglobulin A vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_763
Label: Pycnodysostosis
-   'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_159915
Label: small nucleolar RNA, C/D box 115 cluster
-   'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
-   'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
-   'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
+   'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
+   'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
+   'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
 
Class: http://www.orpha.net/ORDO/Orphanet_120015
Label: tectorin alpha
-   'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_422270
Label: calmodulin 2
-   'calmodulin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'calmodulin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_774
Label: Hereditary hemorrhagic telangiectasia
-   'Hereditary hemorrhagic telangiectasia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000')
+   'Hereditary hemorrhagic telangiectasia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 20.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_778
Label: Rett syndrome
-   'Rett syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_159918
Label: activin A receptor type 2B
-   'activin A receptor type 2B' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
+   'activin A receptor type 2B' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_768
Label: Familial long QT syndrome
-   'Familial long QT syndrome' SubClassOf 'disease'
-   'Familial long QT syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease'
+   'Familial long QT syndrome' SubClassOf 'group of disorders'
+   'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_410627
Label: alpha-2-macroglobulin like 1
-   'alpha-2-macroglobulin like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'alpha-2-macroglobulin like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_755
Label: Leydig cell hypoplasia
+   'Leydig cell hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_756
Label: Pseudohypoaldosteronism type 1
-   'Pseudohypoaldosteronism type 1' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 70.0f)
+   'Pseudohypoaldosteronism type 1' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 107.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_120054
Label: transforming growth factor beta 3
-   'transforming growth factor beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'transforming growth factor beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_727
Label: Microscopic polyangiitis
+   'Microscopic polyangiitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.6f)
 
Class: http://www.orpha.net/ORDO/Orphanet_730
Label: Autosomal dominant polycystic kidney disease
+   'Autosomal dominant polycystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_159984
Label: paroxysmal nonkinesigenic dyskinesia
-   'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
+   'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
 
Class: http://www.orpha.net/ORDO/Orphanet_325976
Label: sodium voltage-gated channel alpha subunit 10
-   'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
-   'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
+   'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
+   'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_477668
Label: Aym�-Gripp syndrome
-   'Aym�-Gripp syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 13.0f)
-   'Aym�-Gripp syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
-   'Aym�-Gripp syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
-   'Aym�-Gripp syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Aym�-Gripp syndrome' SubClassOf 'part_of' some 'Syndromic cataract'
-   'Aym�-Gripp syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
-   'Aym�-Gripp syndrome' SubClassOf 'malformation syndrome'
-   'Aym�-Gripp syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Aym�-Gripp syndrome' SubClassOf 'has_inheritance' some 'Inheritance with unknown mechanism'
-   'Aym�-Gripp syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Aym�-Gripp syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_302951
Label: potassium voltage-gated channel subfamily D member 3
-   'potassium voltage-gated channel subfamily D member 3' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
+   'potassium voltage-gated channel subfamily D member 3' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_331176
Label: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
-   'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
+   'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
 
Class: http://www.orpha.net/ORDO/Orphanet_1935
Label: Early myoclonic encephalopathy
+   'Early myoclonic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_67037
Label: Squamous cell carcinoma of head and neck
-   'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'multigenic/multifactorial'
-   'Squamous cell carcinoma of head and neck' SubClassOf 'disease'
-   'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.7f)
-   'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'not inherited'
-   'Squamous cell carcinoma of head and neck' SubClassOf 'has_AgeOfOnset' some 'All ages'
-   'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 8.7f)
-   'Squamous cell carcinoma of head and neck' SubClassOf 'part_of' some 'Rare head and neck tumor'
-   'Squamous cell carcinoma of head and neck' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 49.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_443162
Label: NDE1-related microhydranencephaly
+   'NDE1-related microhydranencephaly' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
+   'NDE1-related microhydranencephaly' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
+   'NDE1-related microhydranencephaly' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_363263
Label: neurotrophic receptor tyrosine kinase 2
+   'neurotrophic receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
+   'neurotrophic receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_390869
Label: catenin alpha 3
-   'catenin alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'catenin alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_292175
Label: BicC family RNA binding protein 1
-   'BicC family RNA binding protein 1' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant polycystic kidney disease'
+   'BicC family RNA binding protein 1' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant polycystic kidney disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_444736
Label: NLR family CARD domain containing 4
-   'NLR family CARD domain containing 4' SubClassOf 'Candidate gene tested in' some 'CINCA syndrome'
+   'NLR family CARD domain containing 4' SubClassOf 'Candidate gene tested in' some 'CINCA syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_120145
Label: transmembrane inner ear
-   'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_120148
Label: transmembrane protease, serine 3
-   'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_120130
Label: transmembrane channel like 1
-   'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_892
Label: Von Hippel-Lindau disease
+   'Von Hippel-Lindau disease' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Von Hippel-Lindau disease' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_1987
Label: Femoral agenesis/hypoplasia
+   'Femoral agenesis/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Femoral agenesis/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_121239
Label: double homeobox 4 like 1
-   'double homeobox 4 like 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
+   'double homeobox 4 like 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_828
Label: Stickler syndrome
+   'Stickler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Stickler syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_391986
Label: zinc finger and BTB domain containing 16
+   'zinc finger and BTB domain containing 16' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_120164
Label: TNF receptor superfamily member 11b
-   'TNF receptor superfamily member 11b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Paget disease'
+   'TNF receptor superfamily member 11b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Paget disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_120160
Label: TNF receptor superfamily member 11a
+   'TNF receptor superfamily member 11a' SubClassOf 'Candidate gene tested in' some 'Juvenile Paget disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_853
Label: Fetal and neonatal alloimmune thrombocytopenia
-   'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1 / 1000') and ('has_birth_prevalence_average_value' value 112.5f)
+   'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf ('present_in' some 'Worldwide') and ('has_birth_prevalence_range' some '1 / 1000')
 
Class: http://www.orpha.net/ORDO/Orphanet_83648
Label: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
-   'X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf 'has_inheritance' some 'x-linked dominant'
+   'X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf 'has_inheritance' some 'x-linked recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_481662
Label: Familial Chilblain lupus
+   'Familial Chilblain lupus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_481665
Label: UPS18 deficiency
+   'UPS18 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_438216
Label: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
-   'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'clinical subtype'
+   'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'etiological subtype'
 
Class: http://www.orpha.net/ORDO/Orphanet_98682
Label: Essential strabismus
-   'Essential strabismus' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_437465
Label: hyaluronan binding protein 2
-   'hyaluronan binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
+   'hyaluronan binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_353699
Label: SLIT and NTRK like family member 6
-   'SLIT and NTRK like family member 6' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'SLIT and NTRK like family member 6' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_294415
Label: Renal-hepatic-pancreatic dysplasia
+   'Renal-hepatic-pancreatic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Renal-hepatic-pancreatic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_99749
Label: Kostmann syndrome
-   'Kostmann syndrome' SubClassOf 'part_of' some 'Severe congenital neutropenia'
+   'Kostmann syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
 
Class: http://www.orpha.net/ORDO/Orphanet_122879
Label: KRAS proto-oncogene, GTPase
-   'KRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'KRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_289276
Label: glutamate ionotropic receptor NMDA type subunit 2A
-   'glutamate ionotropic receptor NMDA type subunit 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
+   'glutamate ionotropic receptor NMDA type subunit 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
 
Class: http://www.orpha.net/ORDO/Orphanet_1636
Label: Distal monosomy 7q36
+   'Distal monosomy 7q36' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal monosomy 7q36' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_122821
Label: potassium voltage-gated channel subfamily Q member 4
-   'potassium voltage-gated channel subfamily Q member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'potassium voltage-gated channel subfamily Q member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_289176
Label: Autosomal recessive hypophosphatemic rickets
-   'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_99706
Label: Progeria-associated arthropathy
+   'Progeria-associated arthropathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_1654
Label: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome
-   'Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_983
Label: Testicular regression syndrome
-   'Testicular regression syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Testicular regression syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1643
Label: Xp22.3 microdeletion syndrome
+   'Xp22.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_988
Label: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
+   'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_287069
Label: bone morphogenetic protein 1
+   'bone morphogenetic protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'High bone mass osteogenesis imperfecta'
 
Class: http://www.orpha.net/ORDO/Orphanet_1698
Label: Mosaic trisomy 12
+   'Mosaic trisomy 12' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Mosaic trisomy 12' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Mosaic trisomy 12' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1695
Label: Non-distal trisomy 10q
+   'Non-distal trisomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_913
Label: Zollinger-Ellison syndrome
-   'Zollinger-Ellison syndrome' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
+   'Zollinger-Ellison syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
+   'Zollinger-Ellison syndrome' SubClassOf 'has_AgeOfOnset' some 'Elderly'
 
Class: http://www.orpha.net/ORDO/Orphanet_98606
Label: Syndromic orbital border hypoplasia
+   'Syndromic orbital border hypoplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Syndromic orbital border hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Syndromic orbital border hypoplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_905
Label: Wilson disease
-   'Wilson disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Germany') and ('has_annual_incidence_average_value' value 2.9f)
+   'Wilson disease' SubClassOf ('present_in' some 'Germany') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.9f)
 
Class: http://www.orpha.net/ORDO/Orphanet_900
Label: Granulomatosis with polyangiitis
+   'Granulomatosis with polyangiitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.3f)
 
Class: http://www.orpha.net/ORDO/Orphanet_955
Label: Acroosteolysis dominant type
+   'Acroosteolysis dominant type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_956
Label: Acropectororenal dysplasia
-   'Acropectororenal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 12.0f)
-   'Acropectororenal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Acropectororenal dysplasia' SubClassOf 'has_inheritance' some 'not inherited'
-   'Acropectororenal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_396032
Label: adenosine deaminase 2
-   'adenosine deaminase 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Sneddon syndrome'
+   'adenosine deaminase 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Sneddon syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_266184
Label: lysyl-tRNA synthetase
-   'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_159773
Label: mitochondrially encoded ATP synthase 8
-   'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
+   'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_98798
Label: Isochromosomy Yq
+   'Isochromosomy Yq' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Isochromosomy Yq' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_98797
Label: Isochromosomy Yp
+   'Isochromosomy Yp' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Isochromosomy Yp' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_364577
Label: Intellectual disability-brachydactyly-Pierre Robin syndrome
-   'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly'
+   'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
 
Class: http://www.orpha.net/ORDO/Orphanet_444463
Label: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
+   'Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_99889
Label: Cushing syndrome due to ectopic ACTH secretion
+   'Cushing syndrome due to ectopic ACTH secretion' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
 
Class: http://www.orpha.net/ORDO/Orphanet_1717
Label: Distal trisomy 19q
+   'Distal trisomy 19q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Distal trisomy 19q' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_1716
Label: Distal trisomy 18q
+   'Distal trisomy 18q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 18q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_438159
Label: STAT3-related early-onset multisystem autoimmune disease
+   'STAT3-related early-onset multisystem autoimmune disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_99869
Label: Thymic neuroendocrine carcinoma
+   'Thymic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
 
Class: http://www.orpha.net/ORDO/Orphanet_1702
Label: Non-distal trisomy 13q
+   'Non-distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Non-distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1707
Label: Distal trisomy 15q
+   'Distal trisomy 15q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 15q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1703
Label: Mosaic trisomy 14
+   'Mosaic trisomy 14' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Mosaic trisomy 14' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1706
Label: Mosaic trisomy 15
+   'Mosaic trisomy 15' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Mosaic trisomy 15' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Mosaic trisomy 15' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1705
Label: Distal trisomy 14q
+   'Distal trisomy 14q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Distal trisomy 14q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_1713
Label: 17p11.2 microduplication syndrome
+   '17p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   '17p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   '17p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_1779
Label: Dysmorphism-cleft palate-loose skin syndrome
+   'Dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_309152
Label: GM2 gangliosidosis
+   'GM2 gangliosidosis' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_474429
Label: podocalyxin like
+   'podocalyxin like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism'
 
Class: http://www.orpha.net/ORDO/Orphanet_495274
Label: Charcot-Marie-Tooth disease type 2T
+   'Charcot-Marie-Tooth disease type 2T' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_1759
Label: Thoraco-abdominal enteric duplication
+   'Thoraco-abdominal enteric duplication' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_444522
Label: TRAF3 interacting protein 1
+   'TRAF3 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type'
 
Class: http://www.orpha.net/ORDO/Orphanet_122932
Label: keratin 83
-   'keratin 83' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
+   'keratin 83' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_83473
Label: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
-   'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
-   'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
+   'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
+   'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_1795
Label: Peripheral dysostosis
+   'Peripheral dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_122901
Label: keratin 16
-   'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma'
+   'keratin 16' SubClassOf 'Candidate gene tested in' some 'Epidermolytic palmoplantar keratoderma'
+   'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated focal non-epidermolytic palmoplantar keratoderma'
 
Class: http://www.orpha.net/ORDO/Orphanet_1788
Label: Acrofacial dysostosis, Rodr�guez type
+   'Acrofacial dysostosis, Rodr�guez type' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_98723
Label: Hypoplastic right heart syndrome
+   'Hypoplastic right heart syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Hypoplastic right heart syndrome' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.68f)
 
Class: http://www.orpha.net/ORDO/Orphanet_422342
Label: oxysterol binding protein like 2
-   'oxysterol binding protein like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'oxysterol binding protein like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_408692
Label: sarcolemma associated protein
-   'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_121059
Label: deoxyguanosine kinase
+   'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Early-onset familial noncirrhotic portal hypertension'
 
Class: http://www.orpha.net/ORDO/Orphanet_121056
Label: gasdermin E
-   'gasdermin E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'gasdermin E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_123191
Label: MEFV, pyrin innate immunity regulator
-   'MEFV, pyrin innate immunity regulator' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis'
+   'MEFV, pyrin innate immunity regulator' SubClassOf 'Candidate gene tested in' some 'Intermittent hydrarthrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_121073
Label: diaphanous related formin 1
-   'diaphanous related formin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'diaphanous related formin 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_240651
Label: G protein signaling modulator 2
-   'G protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'G protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_404553
Label: Vasculitis due to ADA2 deficiency
+   'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
+   'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_404546
Label: DITRA
+   'DITRA' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_122102
Label: gap junction protein alpha 1
-   'gap junction protein alpha 1' SubClassOf 'Candidate gene tested in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'gap junction protein alpha 1' SubClassOf 'Candidate gene tested in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_122110
Label: gap junction protein gamma 2
-   'gap junction protein gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
+   'gap junction protein gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_122118
Label: gap junction protein alpha 8
+   'gap junction protein alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated congenital sclerocornea'
 
Class: http://www.orpha.net/ORDO/Orphanet_122129
Label: gap junction protein beta 2
-   'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_122135
Label: gap junction protein beta 3
-   'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
-   'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_159414
Label: LHFPL tetraspan subfamily member 5
-   'LHFPL tetraspan subfamily member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'LHFPL tetraspan subfamily member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_122142
Label: gap junction protein beta 6
-   'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_306106
Label: cilia and flagella associated protein 53
-   'cilia and flagella associated protein 53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
+   'cilia and flagella associated protein 53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_122167
Label: GLI family zinc finger 3
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tibial hemimelia, bilateral'
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, unilateral'
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, bilateral'
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, bilateral'
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, unilateral'
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral'
-   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, unilateral'
+   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly'
+   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A'
+   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B'
+   'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tibial hemimelia'
 
Class: http://www.orpha.net/ORDO/Orphanet_217260
Label: Progressive multifocal leukoencephalopathy
+   'Progressive multifocal leukoencephalopathy' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Sweden') and ('has_annual_incidence_average_value' value 0.068f)
 
Class: http://www.orpha.net/ORDO/Orphanet_304804
Label: nuclear receptor subfamily 1 group H member 4
-   'nuclear receptor subfamily 1 group H member 4' SubClassOf 'Candidate gene tested in' some 'Intrahepatic cholestasis of pregnancy'
+   'nuclear receptor subfamily 1 group H member 4' SubClassOf 'Candidate gene tested in' some 'Intrahepatic cholestasis of pregnancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_122086
Label: gamma-glutamyltransferase 1
-   'gamma-glutamyltransferase 1' SubClassOf 'has_chromosomal_location' value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string
-   'gamma-glutamyltransferase 1' SubClassOf 'gene with protein product'
-   'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency'
 
Class: http://www.orpha.net/ORDO/Orphanet_261112
Label: Monosomy 9p
+   'Monosomy 9p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Monosomy 9p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_470342
Label: flavin adenine dinucleotide synthetase 1
+   'flavin adenine dinucleotide synthetase 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type'
 
Class: http://www.orpha.net/ORDO/Orphanet_95449
Label: Congenital aortic valve insufficiency
-   'Congenital aortic valve insufficiency' SubClassOf 'disease'
+   'Congenital aortic valve insufficiency' SubClassOf 'morphological anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_75391
Label: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-   'Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency'
+   'Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies'
 
Class: http://www.orpha.net/ORDO/Orphanet_404507
Label: Chondromyxoid fibroma
+   'Chondromyxoid fibroma' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Chondromyxoid fibroma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Chondromyxoid fibroma' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_123201
Label: MET proto-oncogene, receptor tyrosine kinase
-   'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
-   'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pediatric hepatocellular carcinoma'
+   'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pediatric hepatocellular carcinoma'
+   'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_95487
Label: Atypical arterial duct
-   'Atypical arterial duct' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_64747
Label: X-linked Charcot-Marie-Tooth disease
-   'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_123090
Label: lamin A/C
-   'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_451821
Label: heat shock protein family A (Hsp70) member 9
+   'heat shock protein family A (Hsp70) member 9' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_496751
 
Class: http://www.orpha.net/ORDO/Orphanet_466722
Label: Autosomal recessive spastic paraplegia type 77
-   'Autosomal recessive spastic paraplegia type 77' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
+   'Autosomal recessive spastic paraplegia type 77' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
+   'Autosomal recessive spastic paraplegia type 77' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_123085
Label: limb development membrane protein 1
-   'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral'
-   'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral'
-   'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral'
-   'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral'
+   'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb'
+   'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia'
 
Class: http://www.orpha.net/ORDO/Orphanet_123058
Label: DNA ligase 4
-   'DNA ligase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome'
+   'DNA ligase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_477022
Label: ubiquitin B
-   'ubiquitin B' SubClassOf 'Candidate gene tested in' some 'Bifid uvula'
+   'ubiquitin B' SubClassOf 'Candidate gene tested in' some 'Bifid uvula'
 
Class: http://www.orpha.net/ORDO/Orphanet_123031
Label: LEM domain containing 3
-   'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
+   'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_159308
Label: coiled-coil domain containing 50
-   'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_361157
Label: sodium voltage-gated channel beta subunit 2
-   'sodium voltage-gated channel beta subunit 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
+   'sodium voltage-gated channel beta subunit 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_466703
Label: TMEM199-CDG
-   'TMEM199-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
+   'TMEM199-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
+   'TMEM199-CDG' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'TMEM199-CDG' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_122035
Label: GATA binding protein 4
-   'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
-   'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some '46,XY partial gonadal dysgenesis'
+   'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some '46,XY partial gonadal dysgenesis'
+   'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tetralogy of Fallot'
 
Class: http://www.orpha.net/ORDO/Orphanet_122039
Label: glucosylceramidase beta
-   'glucosylceramidase beta' SubClassOf 'Major susceptibility factor in' some 'Hereditary late-onset Parkinson disease'
+   'glucosylceramidase beta' SubClassOf 'Major susceptibility factor in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_159272
Label: radixin
-   'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_90650
Label: Otopalatodigital syndrome type 1
-   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Otopalatodigital syndrome'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Syndromic genetic deafness'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Otopalatodigital syndrome spectrum disorder'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome'
+   'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_90652
Label: Otopalatodigital syndrome type 2
-   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Otopalatodigital syndrome'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Otopalatodigital syndrome spectrum disorder'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations'
+   'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Syndromic genetic deafness'
 
Class: http://www.orpha.net/ORDO/Orphanet_159213
Label: TRIO and F-actin binding protein
-   'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_470228
Label: doublesex and mab-3 related transcription factor 3
-   'doublesex and mab-3 related transcription factor 3' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
+   'doublesex and mab-3 related transcription factor 3' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_470220
Label: distal-less homeobox 6
-   'distal-less homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
+   'distal-less homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_123144
Label: microtubule associated protein tau
-   'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
-   'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
+   'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
 
Class: http://www.orpha.net/ORDO/Orphanet_97598
Label: Congenital renal artery stenosis
+   'Congenital renal artery stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_123102
Label: LIM homeobox transcription factor 1 beta
+   'LIM homeobox transcription factor 1 beta' SubClassOf 'Role in the phenotype of' some '9q33.3q34.11 microdeletion syndrome'
+   'LIM homeobox transcription factor 1 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nail-patella-like renal disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_123105
Label: loricrin
-   'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia'
+   'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia'
 
Class: http://www.orpha.net/ORDO/Orphanet_90647
Label: Jervell and Lange-Nielsen syndrome
-   'Jervell and Lange-Nielsen syndrome' SubClassOf 'clinical subtype'
+   'Jervell and Lange-Nielsen syndrome' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_435998
Label: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
-   'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
-   'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_98920
Label: Spinal muscular atrophy with respiratory distress type 1
-   'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_122381
Label: hyperpolarization activated cyclic nucleotide gated potassium channel 4
-   'hyperpolarization activated cyclic nucleotide gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'hyperpolarization activated cyclic nucleotide gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_217008
Label: Bockenheimer syndrome
-   'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Bockenheimer syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 40.0f)
+   'Bockenheimer syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_210115
Label: Sterile multifocal osteomyelitis with periostitis and pustulosis
+   'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_434424
Label: frizzled class receptor 2
+   'frizzled class receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Robinow syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_160008
Label: A-kinase anchoring protein 9
-   'A-kinase anchoring protein 9' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
+   'A-kinase anchoring protein 9' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_183678
Label: Hermansky-Pudlak syndrome with neutropenia
-   'Hermansky-Pudlak syndrome with neutropenia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
+   'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Hermansky-Pudlak syndrome with neutropenia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 40.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_352662
Label: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
-   'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
+   'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 19.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_434401
Label: SOS Ras/Rho guanine nucleotide exchange factor 2
-   'SOS Ras/Rho guanine nucleotide exchange factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'SOS Ras/Rho guanine nucleotide exchange factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_252057
Label: Tumor of cranial and spinal nerves
+   'Tumor of cranial and spinal nerves' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.89f)
 
Class: http://www.orpha.net/ORDO/Orphanet_479128
Label: gingival fibromatosis, hereditary, 2
-   'gingival fibromatosis, hereditary, 2' SubClassOf 'Candidate gene tested in' some 'Hereditary gingival fibromatosis'
+   'gingival fibromatosis, hereditary, 2' SubClassOf 'Candidate gene tested in' some 'Hereditary gingival fibromatosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_29207
Label: Reactive arthritis
+   'Reactive arthritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_252028
Label: Primary melanocytic tumor of central nervous system
+   'Primary melanocytic tumor of central nervous system' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.01f)
 
Class: http://www.orpha.net/ORDO/Orphanet_123010
Label: LIM domain binding 3
-   'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_469974
Label: axin 1
-   'axin 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
+   'axin 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_218672
Label: glycerol-3-phosphate dehydrogenase 1 like
-   'glycerol-3-phosphate dehydrogenase 1 like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'glycerol-3-phosphate dehydrogenase 1 like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_218675
Label: sodium voltage-gated channel beta subunit 3
-   'sodium voltage-gated channel beta subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'sodium voltage-gated channel beta subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_251307
Label: Idiopathic recurrent pericarditis
+   'Idiopathic recurrent pericarditis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
 
Class: http://www.orpha.net/ORDO/Orphanet_251304
Label: Infantile onset panniculitis with uveitis and systemic granulomatosis
+   'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324950
 
Class: http://www.orpha.net/ORDO/Orphanet_404443
Label: Tall stature-intellectual disability-facial dysmorphism syndrome
+   'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_251312
Label: Overlapping connective tissue disease
+   'Overlapping connective tissue disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_251328
Label: Unclassified vasculitis
+   'Unclassified vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_251332
Label: Unexplained long-lasting fever/inflammatory syndrome
+   'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_469986
Label: B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
-   'B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_159507
Label: grainyhead like transcription factor 2
-   'grainyhead like transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'grainyhead like transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_122270
Label: adhesion G protein-coupled receptor V1
-   'adhesion G protein-coupled receptor V1' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
+   'adhesion G protein-coupled receptor V1' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_159517
Label: transmembrane protein 43
-   'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_423384
Label: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-   'Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
+   'Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
 
Class: http://www.orpha.net/ORDO/Orphanet_159484
Label: catenin delta 2
+   'catenin delta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign adult familial myoclonic epilepsy'
 
Class: http://www.orpha.net/ORDO/Orphanet_434377
Label: doublecortin domain containing 2
-   'doublecortin domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'doublecortin domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_252128
Label: Malignant peripheral nerve sheath tumor with perineurial differentiation
-   'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'histopathological subtype'
-   'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'part_of' some 'Malignant peripheral nerve sheath tumor'
+   'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'disease'
+   'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'Malignant peripheral nerve sheath tumor'
 
Class: http://www.orpha.net/ORDO/Orphanet_251612
Label: Pilocytic astrocytoma
+   'Pilocytic astrocytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.36f)
 
Class: http://www.orpha.net/ORDO/Orphanet_251630
Label: Anaplastic oligodendroglioma
+   'Anaplastic oligodendroglioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.11f)
 
Class: http://www.orpha.net/ORDO/Orphanet_251633
Label: Low grade ependymoma
-   'Low grade ependymoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.16f)
 
Class: http://www.orpha.net/ORDO/Orphanet_401764
Label: Pancytopenia-developmental delay syndrome
-   'Pancytopenia-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
+   'Pancytopenia-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_268049
Label: mucin 5B, oligomeric mucus/gel-forming
-   'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_156152
Label: Anti-neutrophil cytoplasmic antibody-associated vasculitis
+   'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_280369
+   'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf ('present_in' some 'United States') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 42.1f)
+   'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.3f)
 
Class: http://www.orpha.net/ORDO/Orphanet_329255
Label: Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome'
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_inheritance' some 'Inheritance with unknown mechanism'
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'disease'
+   'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_183924
Label: mitochondrially encoded tRNA leucine 2 (CUN)
-   'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
+   'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
 
Class: http://www.orpha.net/ORDO/Orphanet_118143
Label: protein tyrosine phosphatase, non-receptor type 11
-   'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
+   'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_304486
Label: diaphanous related formin 3
-   'diaphanous related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'diaphanous related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_183933
Label: Wnt family member 10B
-   'Wnt family member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
+   'Wnt family member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_465978
Label: engulfment and cell motility 2
+   'engulfment and cell motility 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ramon syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_118126
Label: patched 2
-   'patched 2' SubClassOf 'Candidate gene tested in' some 'Gorlin syndrome'
+   'patched 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_118128
Label: phosphatase and tensin homolog
-   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck'
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502363
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500481
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494550
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500464
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500478
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494547
+   'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502366
 
Class: http://www.orpha.net/ORDO/Orphanet_300496
Label: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
-   'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 5.0f)
+   'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 15.0f)
+   'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_157215
Label: Hereditary hypophosphatemic rickets with hypercalciuria
-   'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_400642
Label: prolactin receptor
-   'prolactin receptor' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Multiple fibroadenoma of the breast'
 
Class: http://www.orpha.net/ORDO/Orphanet_85200
Label: Ischio-vertebral syndrome
+   'Ischio-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_251636
Label: Ependymoma
-   'Ependymoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.2f)
+   'Ependymoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.16f)
 
Class: http://www.orpha.net/ORDO/Orphanet_251651
Label: Oligoastrocytic tumor
+   'Oligoastrocytic tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.19f)
 
Class: http://www.orpha.net/ORDO/Orphanet_160288
Label: MARVEL domain containing 2
-   'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_291751
Label: distal-less homeobox 5
-   'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
+   'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_189333
Label: microRNA 96
-   'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_100021
Label: Primary plasmacytoma of the bone
+   'Primary plasmacytoma of the bone' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.15f)
 
Class: http://www.orpha.net/ORDO/Orphanet_123628
Label: myosin heavy chain 9
-   'myosin heavy chain 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'myosin heavy chain 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_100022
Label: Extramedullary soft tissue plasmacytoma
+   'Extramedullary soft tissue plasmacytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.1f)
 
Class: http://www.orpha.net/ORDO/Orphanet_123641
Label: myosin XVA
-   'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_123648
Label: myosin VI
-   'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_123653
Label: myosin VIIA
-   'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
-   'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_156077
Label: NK2 homeobox 1
-   'NK2 homeobox 1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
+   'NK2 homeobox 1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_100012
Label: Lissencephaly with cerebellar hypoplasia type B
+   'Lissencephaly with cerebellar hypoplasia type B' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_100011
Label: Lissencephaly with cerebellar hypoplasia type A
+   'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_100016
Label: Lissencephaly with cerebellar hypoplasia type F
+   'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_100015
Label: Lissencephaly with cerebellar hypoplasia type E
+   'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_100014
Label: Lissencephaly with cerebellar hypoplasia type D
+   'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_403958
Label: prickle planar cell polarity protein 2
-   'prickle planar cell polarity protein 2' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
+   'prickle planar cell polarity protein 2' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
 
Class: http://www.orpha.net/ORDO/Orphanet_291703
Label: proline rich transmembrane protein 2
-   'proline rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
+   'proline rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
 
Class: http://www.orpha.net/ORDO/Orphanet_160240
Label: espin
-   'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_160244
Label: estrogen related receptor beta
-   'estrogen related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'estrogen related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_123610
Label: myosin heavy chain 14
-   'myosin heavy chain 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'myosin heavy chain 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Low anorectal malformation'
+   'myosin heavy chain 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_123621
Label: myosin heavy chain 7
-   'myosin heavy chain 7' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction'
+   'myosin heavy chain 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction'
 
Class: http://www.orpha.net/ORDO/Orphanet_162521
Label: Congenital nasal pyriform aperture stenosis with holoprosencephaly
-   'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'malformation syndrome'
-   'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'part_of' some 'Nose and cavum anomaly'
+   'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_100093
Label: Carcinoid syndrome
-   'Carcinoid syndrome' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Carcinoid syndrome' SubClassOf 'part_of' some 'Neuroendocrine tumor'
 
Class: http://www.orpha.net/ORDO/Orphanet_162516
Label: Isolated congenital nasal pyriform aperture stenosis
+   'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_75840
Label: Congenital muscular dystrophy, Ullrich type
-   'Congenital muscular dystrophy, Ullrich type' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.13f)
+   'Congenital muscular dystrophy, Ullrich type' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.13f)
 
Class: http://www.orpha.net/ORDO/Orphanet_100082
Label: Neuroendocrine tumor of the anal canal
-   'Neuroendocrine tumor of the anal canal' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Neuroendocrine tumor of the anal canal' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
 
Class: http://www.orpha.net/ORDO/Orphanet_306658
Label: Familial normophosphatemic tumoral calcinosis
+   'Familial normophosphatemic tumoral calcinosis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_100080
Label: Neuroendocrine tumor of the colon
-   'Neuroendocrine tumor of the colon' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Neuroendocrine tumor of the colon' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Neuroendocrine tumor of the colon' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Neuroendocrine tumor of the colon' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
 
Class: http://www.orpha.net/ORDO/Orphanet_100081
Label: Neuroendocrine tumor of the rectum
-   'Neuroendocrine tumor of the rectum' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Neuroendocrine tumor of the rectum' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Neuroendocrine tumor of the rectum' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
 
Class: http://www.orpha.net/ORDO/Orphanet_100075
Label: Gastric neuroendocrine tumor
-   'Gastric neuroendocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Gastric neuroendocrine tumor' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
+   'Gastric neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Elderly'
+   'Gastric neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_100076
Label: Duodenal neuroendocrine tumor
-   'Duodenal neuroendocrine tumor' SubClassOf 'Gastroenteropancreatic endocrine tumor'
 
Class: http://www.orpha.net/ORDO/Orphanet_100077
Label: Jejunal neuroendocrine tumor
-   'Jejunal neuroendocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Jejunal neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_100078
Label: Ileal neuroendocrine tumor
-   'Ileal neuroendocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Ileal neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_100079
Label: Neuroendocrine tumor of the appendix
-   'Neuroendocrine tumor of the appendix' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
+   'Neuroendocrine tumor of the appendix' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
 
Class: http://www.orpha.net/ORDO/Orphanet_435660
Label: LIPE-related familial partial lipodystrophy
-   'LIPE-related familial partial lipodystrophy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
+   'LIPE-related familial partial lipodystrophy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_293864
Label: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
+   'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_498350
 
Class: http://www.orpha.net/ORDO/Orphanet_251589
Label: Anaplastic astrocytoma
+   'Anaplastic astrocytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.4f)
 
Class: http://www.orpha.net/ORDO/Orphanet_251595
Label: Diffuse astrocytoma
+   'Diffuse astrocytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.48f)
 
Class: http://www.orpha.net/ORDO/Orphanet_251523
Label: Hyperzincemia and hypercalprotectinemia
+   'Hyperzincemia and hypercalprotectinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
 
Class: http://www.orpha.net/ORDO/Orphanet_300359
Label: PLCG2-associated antibody deficiency and immune dysregulation
+   'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_300345
Label: Autosomal systemic lupus erythematosus
+   'Autosomal systemic lupus erythematosus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_468699
Label: SLC39A8-CDG
-   'SLC39A8-CDG' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'SLC39A8-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_123595
Label: myosin binding protein C, cardiac
-   'myosin binding protein C, cardiac' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction'
+   'myosin binding protein C, cardiac' SubClassOf 'Candidate gene tested in' some 'Left ventricular noncompaction'
 
Class: http://www.orpha.net/ORDO/Orphanet_402736
Label: spalt like transcription factor 2
+   'spalt like transcription factor 2' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_85162
Label: Facial onset sensory and motor neuronopathy
-   'Facial onset sensory and motor neuronopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood'
-   'Facial onset sensory and motor neuronopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 38.0f)
+   'Facial onset sensory and motor neuronopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 47.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_160337
Label: solute carrier family 26 member 5
-   'solute carrier family 26 member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'solute carrier family 26 member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_160313
Label: myosin IIIA
-   'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_84064
Label: Syndromic diarrhea
+   'Syndromic diarrhea' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_85195
Label: Familial expansile osteolysis
+   'Familial expansile osteolysis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Familial expansile osteolysis' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Familial expansile osteolysis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_85193
Label: Idiopathic juvenile osteoporosis
+   'Idiopathic juvenile osteoporosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_85191
Label: Singleton-Merten dysplasia
+   'Singleton-Merten dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_484368
Label: platelet derived growth factor receptor like
-   'platelet derived growth factor receptor like' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
+   'platelet derived growth factor receptor like' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_484336
Label: multiple inositol-polyphosphate phosphatase 1
-   'multiple inositol-polyphosphate phosphatase 1' SubClassOf 'Candidate gene tested in' some 'Familial papillary or follicular thyroid carcinoma'
+   'multiple inositol-polyphosphate phosphatase 1' SubClassOf 'Candidate gene tested in' some 'Familial papillary or follicular thyroid carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_66630
Label: Congenital pseudoarthrosis of the clavicle
+   'Congenital pseudoarthrosis of the clavicle' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Congenital pseudoarthrosis of the clavicle' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_485177
Label: transmembrane protein 106B
-   'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
-   'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
+   'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
 
Class: http://www.orpha.net/ORDO/Orphanet_90291
Label: Systemic sclerosis
-   'Systemic sclerosis' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.63f)
+   'Systemic sclerosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
+   'Systemic sclerosis' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.63f)
 
Class: http://www.orpha.net/ORDO/Orphanet_269879
Label: surfactant protein A2
-   'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_85453
Label: X-linked reticulate pigmentary disorder
+   'X-linked reticulate pigmentary disorder' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_251896
Label: Choroid plexus tumor
+   'Choroid plexus tumor' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.05f)
 
Class: http://www.orpha.net/ORDO/Orphanet_300208
Label: calcium voltage-gated channel auxiliary subunit alpha2delta 1
-   'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
+   'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_400443
Label: DnaJ heat shock protein family (Hsp40) member C13
-   'DnaJ heat shock protein family (Hsp40) member C13' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
+   'DnaJ heat shock protein family (Hsp40) member C13' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_411370
Label: RAS p21 protein activator 2
-   'RAS p21 protein activator 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Noonan syndrome'
+   'RAS p21 protein activator 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Noonan syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_319563
Label: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
+   'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
 
Class: http://www.orpha.net/ORDO/Orphanet_425120
Label: STING-associated vasculopathy with onset in infancy
+   'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
+   'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
+   'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_159178
Label: stereocilin
-   'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_404762
Label: adenylate cyclase 1
-   'adenylate cyclase 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'adenylate cyclase 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_159122
Label: small nucleolar RNA, C/D box 116 cluster
-   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
-   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
-   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation'
-   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
+   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
+   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
+   'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
 
Class: http://www.orpha.net/ORDO/Orphanet_90340
Label: Blau syndrome
+   'Blau syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324950
 
Class: http://www.orpha.net/ORDO/Orphanet_96266
Label: Leydig cell hypoplasia due to partial LH resistance
+   'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_96265
Label: Leydig cell hypoplasia due to complete LH resistance
+   'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_401820
Label: Autosomal recessive spastic paraplegia type 67
+   'Autosomal recessive spastic paraplegia type 67' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation'
 
Class: http://www.orpha.net/ORDO/Orphanet_304191
Label: GATA binding protein 5
-   'GATA binding protein 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
+   'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tetralogy of Fallot'
 
Class: http://www.orpha.net/ORDO/Orphanet_118099
Label: presenilin 1
-   'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive non-fluent aphasia'
-   'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semantic dementia'
+   'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive non-fluent aphasia'
+   'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semantic dementia'
 
Class: http://www.orpha.net/ORDO/Orphanet_363992
Label: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
-   'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
+   'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_363972
Label: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
+   'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_465808
Label: arginine-glutamic acid dipeptide repeats
+   'arginine-glutamic acid dipeptide repeats' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'RERE-related neurodevelopmental syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_25980
Label: X-linked myopathy with excessive autophagy
+   'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_484197
Label: disrupted in renal carcinoma 2
-   'disrupted in renal carcinoma 2' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
+   'disrupted in renal carcinoma 2' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_159059
Label: GRB10 interacting GYF protein 2
-   'GRB10 interacting GYF protein 2' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
+   'GRB10 interacting GYF protein 2' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_123313
Label: leukotriene C4 synthase
-   'leukotriene C4 synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-failure to thrive-microcephaly syndrome'
-   'leukotriene C4 synthase' SubClassOf 'gene with protein product'
-   'leukotriene C4 synthase' SubClassOf 'has_chromosomal_location' value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_209301
Label: transient receptor potential cation channel subfamily M member 4
-   'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
-   'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
+   'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_461381
Label: glucosidase II alpha subunit
-   'glucosidase II alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
+   'glucosidase II alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_159075
Label: tyrosine kinase 2
-   'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile idiopathic arthritis'
-   'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Rheumatoid factor-negative juvenile idiopathic arthritis'
 
Class: http://www.orpha.net/ORDO/Orphanet_123324
Label: MAGE family member L2
-   'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
-   'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
-   'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
+   'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
+   'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
+   'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
 
Class: http://www.orpha.net/ORDO/Orphanet_484183
Label: 8-oxoguanine DNA glycosylase
-   '8-oxoguanine DNA glycosylase' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
+   '8-oxoguanine DNA glycosylase' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_484167
Label: TNF receptor superfamily member 10b
-   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some 'Squamous cell carcinoma of head and neck'
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_500464
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_502363
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_500478
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_494550
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_500481
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_494547
+   'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_502366
 
Class: http://www.orpha.net/ORDO/Orphanet_123301
Label: leucine rich repeat kinase 2
-   'leucine rich repeat kinase 2' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
+   'leucine rich repeat kinase 2' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_96201
Label: X small rings
+   'X small rings' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'X small rings' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_168073
Label: granulin precursor
-   'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
-   'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
+   'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
+   'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
 
Class: http://www.orpha.net/ORDO/Orphanet_101206
Label: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
+   'Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_79022
Label: Simpson-Golabi-Behmel syndrome type 2
-   'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_inheritance' some 'x-linked recessive'
-   'Simpson-Golabi-Behmel syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
+   'Simpson-Golabi-Behmel syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 9.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_89936
Label: X-linked hypophosphatemia
+   'X-linked hypophosphatemia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_89937
Label: Autosomal dominant hypophosphatemic rickets
-   'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_118500
Label: sodium voltage-gated channel alpha subunit 2
-   'sodium voltage-gated channel alpha subunit 2' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
+   'sodium voltage-gated channel alpha subunit 2' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_118513
Label: sodium voltage-gated channel alpha subunit 5
-   'sodium voltage-gated channel alpha subunit 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'sodium voltage-gated channel alpha subunit 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_118525
Label: sodium voltage-gated channel alpha subunit 9
-   'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Paroxysmal extreme pain disorder'
-   'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
+   'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Paroxysmal extreme pain disorder'
+   'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_118539
Label: sodium channel epithelial 1 gamma subunit
-   'sodium channel epithelial 1 gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
+   'sodium channel epithelial 1 gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
 
Class: http://www.orpha.net/ORDO/Orphanet_118536
Label: sodium channel epithelial 1 beta subunit
-   'sodium channel epithelial 1 beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
+   'sodium channel epithelial 1 beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
 
Class: http://www.orpha.net/ORDO/Orphanet_118532
Label: sodium channel epithelial 1 alpha subunit
-   'sodium channel epithelial 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
+   'sodium channel epithelial 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
 
Class: http://www.orpha.net/ORDO/Orphanet_79091
Label: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
-   'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 20.0f)
+   'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 21.0f)
+   'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_314655
Label: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
-   'Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'clinical subtype'
+   'Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'etiological subtype'
 
Class: http://www.orpha.net/ORDO/Orphanet_201589
Label: hepatocyte growth factor
-   'hepatocyte growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'hepatocyte growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_370079
Label: Proximal 16p11.2 microduplication syndrome
+   'Proximal 16p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Proximal 16p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_498485
Label: Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
+   'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_498481
Label: LRP5-related primary osteoporosis
+   'LRP5-related primary osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'LRP5-related primary osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_498488
Label: Overgrowth syndrome with 2q37 translocations
+   'Overgrowth syndrome with 2q37 translocations' SubClassOf 'part_of' some 'Complex chromosomal rearrangement'
+   'Overgrowth syndrome with 2q37 translocations' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Overgrowth syndrome with 2q37 translocations' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Overgrowth syndrome with 2q37 translocations' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Overgrowth syndrome with 2q37 translocations' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_498474
Label: Hyaline fibromatosis syndrome
+   'Hyaline fibromatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 150.0f)
+   'Hyaline fibromatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Hyaline fibromatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Hyaline fibromatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Hyaline fibromatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_168101
Label: ribonucleotide reductase regulatory TP53 inducible subunit M2B
-   'ribonucleotide reductase regulatory TP53 inducible subunit M2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome'
+   'ribonucleotide reductase regulatory TP53 inducible subunit M2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_166683
Label: syntaxin binding protein 1
+   'syntaxin binding protein 1' SubClassOf 'Role in the phenotype of' some '9q33.3q34.11 microdeletion syndrome'
+   'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome'
+   'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome'
+   'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
+   'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_317554
Label: otogelin
-   'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_140450
Label: Hereditary motor and sensory neuropathy
-   'Hereditary motor and sensory neuropathy' SubClassOf 'group of disorders'
-   'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy'
+   'Hereditary motor and sensory neuropathy' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_317567
Label: otogelin like
-   'otogelin like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'otogelin like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_317560
Label: polyribonucleotide nucleotidyltransferase 1
-   'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_79142
Label: Familial Dupuytren contracture
-   'Familial Dupuytren contracture' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_458792
Label: Mixed cystic lymphatic malformation
+   'Mixed cystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Mixed cystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_79140
Label: Cutaneous neuroendocrine carcinoma
+   'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
 
Class: http://www.orpha.net/ORDO/Orphanet_35064
Label: Lethal idiopathic viral infection
-   'Lethal idiopathic viral infection' SubClassOf 'part_of' some 'Rare viral disease'
-   'Lethal idiopathic viral infection' SubClassOf 'disease'
+   'Lethal idiopathic viral infection' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_79118
Label: Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
-   'Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_314597
Label: Chudley-McCullough syndrome
-   'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
+   'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
+   'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_118633
Label: surfactant protein A1
-   'surfactant protein A1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'surfactant protein A1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_118643
Label: surfactant protein C
-   'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_201496
Label: intestinal cell kinase
+   'intestinal cell kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy'
 
Class: http://www.orpha.net/ORDO/Orphanet_498497
Label: Short rib-polydactyly syndrome type 5
+   'Short rib-polydactyly syndrome type 5' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Short rib-polydactyly syndrome type 5' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
+   'Short rib-polydactyly syndrome type 5' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'Short rib-polydactyly syndrome type 5' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_169082
Label: Combined immunodeficiency due to CD3gamma deficiency
+   'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_457252
Label: Squamous cell carcinoma of the oral tongue
-   'Squamous cell carcinoma of the oral tongue' SubClassOf 'has_inheritance' some 'not inherited'
-   'Squamous cell carcinoma of the oral tongue' SubClassOf 'part_of' some 'Rare head and neck tumor'
-   'Squamous cell carcinoma of the oral tongue' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_201546
Label: kelch like family member 7
+   'kelch like family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bohring-Opitz syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_316333
Label: calcium and integrin binding family member 2
-   'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_54595
Label: Craniopharyngioma
-   'Craniopharyngioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.13f)
+   'Craniopharyngioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.19f)
 
Class: http://www.orpha.net/ORDO/Orphanet_139855
Label: fibulin 1
-   'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome'
+   'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_201502
Label: paired like homeodomain 1
+   'paired like homeodomain 1' SubClassOf 'Role in the phenotype of' some 'Mirror-image polydactyly'
 
Class: http://www.orpha.net/ORDO/Orphanet_201509
Label: KIT ligand
-   'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_316377
Label: calcium binding protein 2
-   'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_101039
Label: Female restricted epilepsy with intellectual disability
+   'Female restricted epilepsy with intellectual disability' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_46135
Label: Primary central nervous system lymphoma
-   'Primary central nervous system lymphoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 6.0f)
+   'Primary central nervous system lymphoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.44f)
 
Class: http://www.orpha.net/ORDO/Orphanet_258532
Label: methionine sulfoxide reductase B3
-   'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_101016
Label: Romano-Ward syndrome
-   'Romano-Ward syndrome' SubClassOf 'clinical subtype'
+   'Romano-Ward syndrome' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_79213
Label: Mucopolysaccharidosis
-   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Worldwide') and ('has_birth_prevalence_range' some '1-9 / 100 000')
-   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000')
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.2f)
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 16.9f)
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.04f)
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.56f)
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.35f)
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Worldwide') and ('has_birth_prevalence_range' some '1-9 / 100 000')
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000')
+   'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.53f)
 
Class: http://www.orpha.net/ORDO/Orphanet_402371
Label: epidermal growth factor receptor pathway substrate 8
-   'epidermal growth factor receptor pathway substrate 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'epidermal growth factor receptor pathway substrate 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_101083
Label: Charcot-Marie-Tooth disease type 1C
+   'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_402368
Label: glutaredoxin and cysteine rich domain containing 2
-   'glutaredoxin and cysteine rich domain containing 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'glutaredoxin and cysteine rich domain containing 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_317445
Label: protein tyrosine phosphatase, non-receptor type 22
-   'protein tyrosine phosphatase, non-receptor type 22' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus'
 
Class: http://www.orpha.net/ORDO/Orphanet_140560
Label: ATP binding cassette subfamily A member 3
-   'ATP binding cassette subfamily A member 3' SubClassOf 'Candidate gene tested in' some 'Idiopathic pulmonary fibrosis'
+   'ATP binding cassette subfamily A member 3' SubClassOf 'Candidate gene tested in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_239943
Label: TBC1 domain family member 24
-   'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
-   'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_166409
Label: Photosensitive epilepsy
+   'Photosensitive epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Photosensitive epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Photosensitive epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_239955
Label: WD repeat domain 35
+   'WD repeat domain 35' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Short rib-polydactyly syndrome type 5'
 
Class: http://www.orpha.net/ORDO/Orphanet_440402
Label: Interstitial lung disease due to ABCA3 deficiency
+   'Interstitial lung disease due to ABCA3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Interstitial lung disease due to ABCA3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Interstitial lung disease due to ABCA3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_36412
Label: Hypocomplementemic urticarial vasculitis
+   'Hypocomplementemic urticarial vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_213777
Label: High-grade neuroendocrine carcinoma of the cervix uteri
+   'High-grade neuroendocrine carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
 
Class: http://www.orpha.net/ORDO/Orphanet_167901
Label: mitochondrially encoded tRNA serine 1 (UCN)
-   'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
+   'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
 
Class: http://www.orpha.net/ORDO/Orphanet_213731
Label: High-grade neuroendocrine carcinoma of the corpus uteri
+   'High-grade neuroendocrine carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
 
Class: http://www.orpha.net/ORDO/Orphanet_399096
Label: Distal anoctaminopathy
-   'Distal anoctaminopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
+   'Distal anoctaminopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 24.0f)
+   'Distal anoctaminopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_118347
Label: ring finger protein 139
-   'ring finger protein 139' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
+   'ring finger protein 139' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_88639
Label: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
-   'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 16.0f)
+   'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 20.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_247815
Label: Autosomal recessive ataxia due to PEX10 deficiency
-   'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
+   'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_65283
Label: Timothy syndrome
-   'Timothy syndrome' SubClassOf 'clinical subtype'
+   'Timothy syndrome' SubClassOf 'malformation syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_65282
Label: Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
+   'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_329457
Label: Distal arthrogryposis type 5D
-   'Distal arthrogryposis type 5D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 37.0f)
-   'Distal arthrogryposis type 5D' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Distal arthrogryposis type 5D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 33.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_88673
Label: Hepatocellular carcinoma
-   'Hepatocellular carcinoma' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 10.0f)
+   'Hepatocellular carcinoma' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 15.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_399103
Label: Nebulin-related early-onset distal myopathy
-   'Nebulin-related early-onset distal myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
+   'Nebulin-related early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Nebulin-related early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Nebulin-related early-onset distal myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 13.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_52429
Label: Branchiootic syndrome
+   'Branchiootic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_91491
Label: Congenital ectropion uveae
+   'Congenital ectropion uveae' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_169402
Label: leucine rich transmembrane and O-methyltransferase domain containing
-   'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_311140
Label: SKI proto-oncogene
-   'SKI proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shprintzen-Goldberg syndrome'
+   'SKI proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shprintzen-Goldberg syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_238459
Label: SLC35A1-CDG
-   'SLC35A1-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
+   'SLC35A1-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_247820
Label: Ectodermal dysplasia-syndactyly syndrome
-   'Ectodermal dysplasia-syndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
+   'Ectodermal dysplasia-syndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 22.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_118460
Label: sterile alpha motif domain containing 9
+   'sterile alpha motif domain containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'MIRAGE syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_239888
Label: nuclear factor I X
+   'nuclear factor I X' SubClassOf 'Role in the phenotype of' some '19p13.3 microduplication syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_36367
Label: Distal monosomy 1q
+   'Distal monosomy 1q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_118443
Label: ryanodine receptor 2
-   'ryanodine receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
+   'ryanodine receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
 
Class: http://www.orpha.net/ORDO/Orphanet_36382
Label: Familial cervical artery dissection
+   'Familial cervical artery dissection' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_118437
Label: ryanodine receptor 1
+   'ryanodine receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_457490
Label: Dmx like 2
-   'Dmx like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'Dmx like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_300573
Label: Polymicrogyria due to TUBB2B mutation
-   'Polymicrogyria due to TUBB2B mutation' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
+   'Polymicrogyria due to TUBB2B mutation' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
+   'Polymicrogyria due to TUBB2B mutation' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
 
Class: http://www.orpha.net/ORDO/Orphanet_118498
Label: sodium voltage-gated channel beta subunit 1
-   'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
-   'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
+   'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
+   'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_118489
Label: sodium voltage-gated channel alpha subunit 1
-   'sodium voltage-gated channel alpha subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
+   'sodium voltage-gated channel alpha subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_91355
Label: Sheehan syndrome
+   'Sheehan syndrome' SubClassOf ('has_annual_incidence_range' some 'Unknown_epidemiological_range') and ('present_in' some 'Worldwide')
+   'Sheehan syndrome' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_91387
Label: Familial thoracic aortic aneurysm and aortic dissection
+   'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
+   'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_259373
Label: immunoglobulin like domain containing receptor 1
-   'immunoglobulin like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'immunoglobulin like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_259361
Label: dehydrodolichyl diphosphate synthase subunit
+   'dehydrodolichyl diphosphate synthase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_3305
Label: Tetraploidy
+   'Tetraploidy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Tetraploidy' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_3309
Label: Tetrasomy 5p
+   'Tetrasomy 5p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Tetrasomy 5p' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Tetrasomy 5p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_3354
Label: Tricho-oculo-dermo-vertebral syndrome
-   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
-   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome'
-   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
-   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'malformation syndrome'
+   'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_140908
Label: Brachydactyly type B2
+   'Brachydactyly type B2' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_201114
Label: myeloid differentiation primary response 88
-   'myeloid differentiation primary response 88' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Waldenstr�m macroglobulinemia'
+   'myeloid differentiation primary response 88' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Waldenstr�m macroglobulinemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_419164
Label: syntaxin 1B
-   'syntaxin 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
+   'syntaxin 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
 
Class: http://www.orpha.net/ORDO/Orphanet_360504
Label: beta-transducin repeat containing E3 ubiquitin protein ligase
-   'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
+   'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_168563
Label: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
+   '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_3265
Label: Humero-radial synostosis
-   'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_3263
Label: Syngnathia-cleft palate syndrome
+   'Syngnathia-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Syngnathia-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_132262
Label: fibroblast growth factor receptor 2
-   'fibroblast growth factor receptor 2' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
+   'fibroblast growth factor receptor 2' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_3255
Label: Filippi syndrome
-   'Filippi syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 32.0f)
+   'Filippi syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 29.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_3243
Label: Sweet syndrome
+   'Sweet syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_79504
Label: Ichthyosis hystrix gravior
-   'Ichthyosis hystrix gravior' SubClassOf 'part_of' some 'Keratinopathic ichthyosis'
-   'Ichthyosis hystrix gravior' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 11.0f)
-   'Ichthyosis hystrix gravior' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Ichthyosis hystrix gravior' SubClassOf 'disease'
-   'Ichthyosis hystrix gravior' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Ichthyosis hystrix gravior' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_3287
Label: Takayasu arteritis
+   'Takayasu arteritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
 
Class: http://www.orpha.net/ORDO/Orphanet_440392
Label: Interstitial lung disease due to SP-C deficiency
+   'Interstitial lung disease due to SP-C deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_3221
Label: Generalized resistance to thyroid hormone
+   'Generalized resistance to thyroid hormone' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Generalized resistance to thyroid hormone' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_95716
Label: Familial thyroid dyshormonogenesis
+   'Familial thyroid dyshormonogenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Familial thyroid dyshormonogenesis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_95720
Label: Thyroid hypoplasia
+   'Thyroid hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Thyroid hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_201089
Label: epidermal growth factor
-   'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Adult hepatocellular carcinoma'
+   'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Adult hepatocellular carcinoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_470676
Label: RAN guanine nucleotide release factor
-   'RAN guanine nucleotide release factor' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
+   'RAN guanine nucleotide release factor' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_310793
Label: nicotinamide nucleotide adenylyltransferase 1
+   'nicotinamide nucleotide adenylyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_426776
Label: poly(A)-specific ribonuclease
-   'poly(A)-specific ribonuclease' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
+   'poly(A)-specific ribonuclease' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_79665
Label: Gardner syndrome
+   'Gardner syndrome' SubClassOf 'has_AgeOfOnset' some 'Adult'
 
Class: http://www.orpha.net/ORDO/Orphanet_403061
Label: epithelial membrane protein 2
-   'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis'
-   'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation'
-   'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change'
+   'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis'
+   'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation'
+   'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change'
 
Class: http://www.orpha.net/ORDO/Orphanet_244283
Label: Biliary atresia with splenic malformation syndrome
-   'Biliary atresia with splenic malformation syndrome' SubClassOf 'part_of' some 'Rare biliary tract disease'
+   'Biliary atresia with splenic malformation syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_498350
 
Class: http://www.orpha.net/ORDO/Orphanet_3161
Label: Congenital pulmonary sequestration
+   'Congenital pulmonary sequestration' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_3165
Label: Eosinophilic fasciitis
+   'Eosinophilic fasciitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
 
Class: http://www.orpha.net/ORDO/Orphanet_168420
Label: nucleoporin 214
+   'nucleoporin 214' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_156728
Label: Spondyloepimetaphyseal dysplasia, matrilin-3 type
-   'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
+   'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 5.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_252455
Label: NADH:ubiquinone oxidoreductase subunit A2
+   'NADH:ubiquinone oxidoreductase subunit A2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Cystic leukoencephalopathy without megalencephaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_117639
Label: ATP binding cassette subfamily B member 4
-   'ATP binding cassette subfamily B member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
+   'ATP binding cassette subfamily B member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_117631
Label: ATP binding cassette subfamily B member 11
-   'ATP binding cassette subfamily B member 11' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
+   'ATP binding cassette subfamily B member 11' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_447183
Label: ATPase plasma membrane Ca2+ transporting 2
-   'ATPase plasma membrane Ca2+ transporting 2' SubClassOf 'Modifying germline mutation in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'ATPase plasma membrane Ca2+ transporting 2' SubClassOf 'Modifying germline mutation in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_124103
Label: paired box 8
-   'paired box 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
+   'paired box 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_118723
Label: SIX homeobox 1
-   'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_117673
Label: ATP binding cassette subfamily C member 9
-   'ATP binding cassette subfamily C member 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
+   'ATP binding cassette subfamily C member 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_124119
Label: protocadherin related 15
-   'protocadherin related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'protocadherin related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_328743
Label: spectrin repeat containing nuclear envelope family member 4
-   'spectrin repeat containing nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'spectrin repeat containing nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_248487
Label: high mobility group AT-hook 2
-   'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
+   'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_2028
Label: Juvenile hyaline fibromatosis
-   'Juvenile hyaline fibromatosis' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 50.0f)
+   'Juvenile hyaline fibromatosis' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 70.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_118703
Label: sonic hedgehog
-   'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral'
-   'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral'
-   'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral'
-   'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral'
+   'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia'
+   'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb'
 
Class: http://www.orpha.net/ORDO/Orphanet_79346
Label: Chondrodysplasia punctata, tibial-metacarpal type
+   'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_79345
Label: Brachytelephalangic chondrodysplasia punctata
+   'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_124035
Label: otoferlin
-   'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_3095
Label: Atypical Rett syndrome
-   'Atypical Rett syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_46484
Label: Oligodendroglial tumor
+   'Oligodendroglial tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.24f)
 
Class: http://www.orpha.net/ORDO/Orphanet_498602
Label: Sugarman brachydactyly
+   'Sugarman brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Sugarman brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Sugarman brachydactyly' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
+   'Sugarman brachydactyly' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_314938
Label: thrombospondin type laminin G domain and EAR repeats
-   'thrombospondin type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'thrombospondin type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_168312
Label: nuclear receptor subfamily 5 group A member 1
-   'nuclear receptor subfamily 5 group A member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
+   'nuclear receptor subfamily 5 group A member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
 
Class: http://www.orpha.net/ORDO/Orphanet_3067
Label: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
-   'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'malformation syndrome'
-   'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
-   'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
-   'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_3063
Label: X-linked intellectual disability, Snyder type
+   'X-linked intellectual disability, Snyder type' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_169896
Label: solute carrier family 17 member 8
-   'solute carrier family 17 member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
+   'solute carrier family 17 member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_457185
Label: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
+   'Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
+   'Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_3056
Label: X-linked intellectual disability, Brooks type
+   'X-linked intellectual disability, Brooks type' SubClassOf 'has_AgeOfOnset' some 'Infancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_171719
Label: Cutis laxa-Marfanoid syndrome
+   'Cutis laxa-Marfanoid syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 18.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_124094
Label: paired box 6
-   'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Morning glory syndrome'
+   'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Morning glory syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_166035
Label: Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
-   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
-   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia'
-   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'disease'
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Retinal dystrophy'
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'malformation syndrome'
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 12.0f)
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_329967
Label: Intermittent hydrarthrosis
+   'Intermittent hydrarthrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
 
Class: http://www.orpha.net/ORDO/Orphanet_118885
Label: ATPase phospholipid transporting 8B1
-   'ATPase phospholipid transporting 8B1' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
+   'ATPase phospholipid transporting 8B1' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
 
Class: http://www.orpha.net/ORDO/Orphanet_280553
Label: Fatal infantile hypertonic myofibrillar myopathy
+   'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'part_of' some 'Alpha-crystallinopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_79395
Label: Keratoderma hereditarium mutilans with ichthyosis
-   'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_118821
Label: solute carrier family 26 member 4
-   'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
-   'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
+   'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_168165
Label: left-right determination factor 2
-   'left-right determination factor 2' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
+   'left-right determination factor 2' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
 
Class: http://www.orpha.net/ORDO/Orphanet_364766
Label: mitochondrially encoded tRNA asparagine
-   'mitochondrially encoded tRNA asparagine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
+   'mitochondrially encoded tRNA asparagine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
 
Class: http://www.orpha.net/ORDO/Orphanet_166100
Label: Stickler syndrome type 3
+   'Stickler syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Stickler syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_166119
Label: Isolated osteopoikilosis
-   'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'Adult'
+   'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
+   'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
 
Class: http://www.orpha.net/ORDO/Orphanet_79457
Label: Maculopapular cutaneous mastocytosis
-   'Maculopapular cutaneous mastocytosis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '6-9 / 10 000') and ('has_birth_prevalence_average_value' value 56.25f)
 
Class: http://www.orpha.net/ORDO/Orphanet_139217
Label: whirlin
-   'whirlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
+   'whirlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
 
Class: http://www.orpha.net/ORDO/Orphanet_171676
Label: Periventricular leukomalacia
-   'Periventricular leukomalacia' SubClassOf 'disease'
-   'Periventricular leukomalacia' SubClassOf 'part_of' some 'Rare neurologic disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_103912
Label: Epithelio-exfoliative colitis-deafness syndrome
-   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development'
-   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
-   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
-   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
-   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'disease'
-   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
+   'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_498796
Label: centrosomal protein 55
+   'centrosomal protein 55' SubClassOf 'has_chromosomal_location' value "10q23.33"^^http://www.w3.org/2001/XMLSchema#string
+   'centrosomal protein 55' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_500135
 
Class: http://www.orpha.net/ORDO/Orphanet_238722
Label: Familial congenital mirror movements
+   'Familial congenital mirror movements' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_117820
Label: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
-   'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
+   'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
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New classes:
 
Class: http://www.orpha.net/ORDO/Orphanet_502499
Label: Erythema multiforme major
+   'Erythema multiforme major' SubClassOf 'has_AgeOfOnset' some 'all ages'
+   'Erythema multiforme major' SubClassOf 'disease'
+   'Erythema multiforme major' SubClassOf 'part_of' some 'Toxic dermatosis'
 
Class: http://www.orpha.net/ORDO/Orphanet_1421
Label: OBSOLETE: Lethal chondrodysplasia, Seller type
+   'OBSOLETE: Lethal chondrodysplasia, Seller type' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_1420
Label: OBSOLETE: Lethal chondrodysplasia, Moerman type
+   'OBSOLETE: Lethal chondrodysplasia, Moerman type' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_502444
Label: Alkaline ceramidase 3 deficiency
+   'Alkaline ceramidase 3 deficiency' SubClassOf 'part_of' some 'Leukodystrophy'
+   'Alkaline ceramidase 3 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 2.0f)
+   'Alkaline ceramidase 3 deficiency' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Alkaline ceramidase 3 deficiency' SubClassOf 'disease'
+   'Alkaline ceramidase 3 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_502430
Label: Metopic ridging-ptosis-facial dysmorphism syndrome
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis'
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 8.0f)
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'malformation syndrome'
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare disorder with ptosis'
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_502434
Label: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 17.0f)
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'malformation syndrome'
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_502437
Label: 4q25 proximal deletion syndrome
+   '4q25 proximal deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   '4q25 proximal deletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   '4q25 proximal deletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
+   '4q25 proximal deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
+   '4q25 proximal deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
+   '4q25 proximal deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 4'
+   '4q25 proximal deletion syndrome' SubClassOf 'malformation syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_502423
Label: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder'
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 9.0f)
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Rare hereditary ataxia'
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Mitochondrial myopathy'
+   'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_2111
Label: Cystic hamartoma of lung and kidney
+   'Cystic hamartoma of lung and kidney' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Cystic hamartoma of lung and kidney' SubClassOf 'has_inheritance' some 'unknown inheritance'
+   'Cystic hamartoma of lung and kidney' SubClassOf 'part_of' some 'Rare renal tumor'
+   'Cystic hamartoma of lung and kidney' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
+   'Cystic hamartoma of lung and kidney' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Cystic hamartoma of lung and kidney' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
+   'Cystic hamartoma of lung and kidney' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_93937
Label: OBSOLETE: Terminal transverse defects of arm
+   'OBSOLETE: Terminal transverse defects of arm' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_439849
Label: Autosomal recessive severe congenital neutropenia
+   'Autosomal recessive severe congenital neutropenia' SubClassOf 'group of disorders'
+   'Autosomal recessive severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia'
 
Class: http://www.orpha.net/ORDO/Orphanet_502369
Label: Squamous cell carcinoma of oral cavity and lip
+   'Squamous cell carcinoma of oral cavity and lip' SubClassOf 'Rare otorhinolaryngologic tumor'
+   'Squamous cell carcinoma of oral cavity and lip' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_502363
Label: Squamous cell carcinoma of the oral cavity
+   'Squamous cell carcinoma of the oral cavity' SubClassOf 'part_of' some 'Squamous cell carcinoma of oral cavity and lip'
+   'Squamous cell carcinoma of the oral cavity' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 3.51f)
+   'Squamous cell carcinoma of the oral cavity' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_502366
Label: Squamous cell carcinoma of the lip
+   'Squamous cell carcinoma of the lip' SubClassOf 'disease'
+   'Squamous cell carcinoma of the lip' SubClassOf 'part_of' some 'Squamous cell carcinoma of oral cavity and lip'
+   'Squamous cell carcinoma of the lip' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 1.02f)
 
Class: http://www.orpha.net/ORDO/Orphanet_1570
Label: Symbrachydactyly of hands and feet
+   'Symbrachydactyly of hands and feet' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Symbrachydactyly of hands and feet' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Symbrachydactyly of hands and feet' SubClassOf 'part_of' some 'Dysostosis with brachydactyly without extraskeletal manifestations'
+   'Symbrachydactyly of hands and feet' SubClassOf 'malformation syndrome'
+   'Symbrachydactyly of hands and feet' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_502318
Label: Cochlear nerve deficiency
+   'Cochlear nerve deficiency' SubClassOf 'part_of' some 'Middle ear anomaly'
+   'Cochlear nerve deficiency' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Cochlear nerve deficiency' SubClassOf 'morphological anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_502305
Label: Cochleovestibular dysplasia
+   'Cochleovestibular dysplasia' SubClassOf 'morphological anomaly'
+   'Cochleovestibular dysplasia' SubClassOf 'part_of' some 'Middle ear anomaly'
+   'Cochleovestibular dysplasia' SubClassOf 'has_AgeOfOnset' some 'neonatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_504523
Label: Severe combined immunodeficiency due to LAT deficiency
+   'Severe combined immunodeficiency due to LAT deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
+   'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'disease'
+   'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency'
+   'Severe combined immunodeficiency due to LAT deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_504530
Label: Combined immunodeficiency due to Moesin deficiency
+   'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency'
+   'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'disease'
+   'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   'Combined immunodeficiency due to Moesin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
+   'Combined immunodeficiency due to Moesin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'has_inheritance' some 'x-linked recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_324950
Label: Granulomatous autoinflammatory syndrome of childhood
+   'Granulomatous autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
+   'Granulomatous autoinflammatory syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_324953
Label: Unclassified autoinflammatory syndrome of childhood
+   'Unclassified autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
+   'Unclassified autoinflammatory syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_324942
Label: Pyogenic autoinflammatory syndrome of childhood
+   'Pyogenic autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
+   'Pyogenic autoinflammatory syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_324939
Label: Periodic fever syndrome of childhood
+   'Periodic fever syndrome of childhood' SubClassOf 'group of disorders'
+   'Periodic fever syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_324960
Label: Unexplained periodic fever syndrome of childhood
+   'Unexplained periodic fever syndrome of childhood' SubClassOf 'group of disorders'
+   'Unexplained periodic fever syndrome of childhood' SubClassOf 'Periodic fever syndrome of childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_295175
Label: OBSOLETE: Preaxial polydactyly of toes, unilateral
+   'OBSOLETE: Preaxial polydactyly of toes, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295177
Label: OBSOLETE: Preaxial polydactyly of toes, bilateral
+   'OBSOLETE: Preaxial polydactyly of toes, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295179
Label: OBSOLETE: Postaxial polydactyly of toes, unilateral
+   'OBSOLETE: Postaxial polydactyly of toes, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_496790
Label: Optic atrophy-peripheral neuropathy-developmental delay syndrome
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 8.0f)
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'disease'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Syndromic hereditary optic neuropathy'
+   'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_295185
Label: OBSOLETE: Central polydactyly of toes, bilateral
+   'OBSOLETE: Central polydactyly of toes, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295183
Label: OBSOLETE: Central polydactyly of toes, unilateral
+   'OBSOLETE: Central polydactyly of toes, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295181
Label: OBSOLETE: Postaxial polydactyly of toes, bilateral
+   'OBSOLETE: Postaxial polydactyly of toes, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_496756
Label: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'disease'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia'
 
Class: http://www.orpha.net/ORDO/Orphanet_496751
Label: EVEN-plus syndrome
+   'EVEN-plus syndrome' SubClassOf 'malformation syndrome'
+   'EVEN-plus syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation'
+   'EVEN-plus syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability'
+   'EVEN-plus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'EVEN-plus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
+   'EVEN-plus syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'EVEN-plus syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability'
+   'EVEN-plus syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia'
+   'EVEN-plus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_1266
Label: Dermato-cardio-skeletal syndrome, Borrone type
+   'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_510728
Label: linker for activation of T cells
+   'linker for activation of T cells' SubClassOf 'has_chromosomal_location' value "16q13"^^http://www.w3.org/2001/XMLSchema#string
+   'linker for activation of T cells' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to LAT deficiency'
+   'linker for activation of T cells' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_2352
Label: Kozlowski-Brown-Hardwick syndrome
+   'Kozlowski-Brown-Hardwick syndrome' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_502623
Label: signal recognition particle 54
+   'signal recognition particle 54' SubClassOf 'has_chromosomal_location' value "14q13.2"^^http://www.w3.org/2001/XMLSchema#string
+   'signal recognition particle 54' SubClassOf 'gene with protein product'
+   'signal recognition particle 54' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shwachman-Diamond syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_280342
Label: Rare systemic or rheumatological disease of childhood
+   'Rare systemic or rheumatological disease of childhood' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_295116
Label: OBSOLETE: Adactyly of foot, unilateral
+   'OBSOLETE: Adactyly of foot, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295114
Label: OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral
+   'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295128
Label: OBSOLETE: Brachydactyly of fingers, unilateral
+   'OBSOLETE: Brachydactyly of fingers, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295138
Label: OBSOLETE: Symbrachydactyly of hand and foot, bilateral
+   'OBSOLETE: Symbrachydactyly of hand and foot, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295136
Label: OBSOLETE: Symbrachydactyly of hand and foot, unilateral
+   'OBSOLETE: Symbrachydactyly of hand and foot, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295134
Label: OBSOLETE: Brachydactyly of toes, bilateral
+   'OBSOLETE: Brachydactyly of toes, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295132
Label: OBSOLETE: Brachydactyly of toes, unilateral
+   'OBSOLETE: Brachydactyly of toes, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295130
Label: OBSOLETE: Brachydactyly of fingers, bilateral
+   'OBSOLETE: Brachydactyly of fingers, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295118
Label: OBSOLETE: Adactyly of foot, bilateral
+   'OBSOLETE: Adactyly of foot, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295124
Label: OBSOLETE: Split foot, unilateral
+   'OBSOLETE: Split foot, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295126
Label: OBSOLETE: Split foot, bilateral
+   'OBSOLETE: Split foot, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295120
Label: OBSOLETE: Split hand, unilateral
+   'OBSOLETE: Split hand, unilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295122
Label: OBSOLETE: Split hand, bilateral
+   'OBSOLETE: Split hand, bilateral' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_496693
Label: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'malformation syndrome'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation'
 
Class: http://www.orpha.net/ORDO/Orphanet_496689
Label: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia'
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'disease'
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 12.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_496686
Label: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'disease'
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'part_of' some 'Myofibrillar myopathy'
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_496641
Label: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Syndromic hereditary optic neuropathy'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'malformation syndrome'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 22.0f)
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease'
+   'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_280373
Label: Rare pediatric systemic disease
+   'Rare pediatric systemic disease' SubClassOf 'group of disorders'
+   'Rare pediatric systemic disease' SubClassOf 'Rare systemic or rheumatological disease of childhood'
 
Class: http://www.orpha.net/ORDO/Orphanet_280369
Label: Rare pediatric vasculitis
+   'Rare pediatric vasculitis' SubClassOf 'Rare systemic or rheumatological disease of childhood'
+   'Rare pediatric vasculitis' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_504704
Label: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
+   'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2' SubClassOf 'gene with protein product'
+   'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Recurrent infection due to specific granule deficiency'
+   'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2' SubClassOf 'has_chromosomal_location' value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_492567
Label: progesterone immunomodulatory binding factor 1
+   'progesterone immunomodulatory binding factor 1' SubClassOf 'gene with protein product'
+   'progesterone immunomodulatory binding factor 1' SubClassOf 'has_chromosomal_location' value "13q21.33-q22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'progesterone immunomodulatory binding factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_510655
Label: VPS33A, CORVET/HOPS core subunit
+   'VPS33A, CORVET/HOPS core subunit' SubClassOf 'gene with protein product'
+   'VPS33A, CORVET/HOPS core subunit' SubClassOf 'has_chromosomal_location' value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string
+   'VPS33A, CORVET/HOPS core subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_510666
Label: CWC27 spliceosome associated protein homolog
+   'CWC27 spliceosome associated protein homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly-short stature-retinitis pigmentosa syndrome'
+   'CWC27 spliceosome associated protein homolog' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_510688
Label: solute carrier family 30 member 9
+   'solute carrier family 30 member 9' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome'
+   'solute carrier family 30 member 9' SubClassOf 'gene with protein product'
+   'solute carrier family 30 member 9' SubClassOf 'has_chromosomal_location' value "4p13"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_295006
Label: OBSOLETE: Preaxial polydactyly of toes
+   'OBSOLETE: Preaxial polydactyly of toes' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295010
Label: OBSOLETE: Central polydactyly of toes
+   'OBSOLETE: Central polydactyly of toes' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_295008
Label: OBSOLETE: Postaxial polydactyly of toes
+   'OBSOLETE: Postaxial polydactyly of toes' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_2641
Label: OBSOLETE: Micromelic dwarfism, Fryns type
+   'OBSOLETE: Micromelic dwarfism, Fryns type' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_510714
Label: trafficking kinesin protein 1
+   'trafficking kinesin protein 1' SubClassOf 'has_chromosomal_location' value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'trafficking kinesin protein 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Undetermined early-onset epileptic encephalopathy'
+   'trafficking kinesin protein 1' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_510706
Label: selenoprotein I
+   'selenoprotein I' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction'
+   'selenoprotein I' SubClassOf 'has_chromosomal_location' value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string
+   'selenoprotein I' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_493721
Label: translocase of inner mitochondrial membrane 50
+   'translocase of inner mitochondrial membrane 50' SubClassOf 'gene with protein product'
+   'translocase of inner mitochondrial membrane 50' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 9'
+   'translocase of inner mitochondrial membrane 50' SubClassOf 'has_chromosomal_location' value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_494919
Label: SET nuclear proto-oncogene
+   'SET nuclear proto-oncogene' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
+   'SET nuclear proto-oncogene' SubClassOf 'gene with protein product'
+   'SET nuclear proto-oncogene' SubClassOf 'has_chromosomal_location' value "9q34.11"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_505319
Label: coatomer protein complex subunit beta 2
+   'coatomer protein complex subunit beta 2' SubClassOf 'gene with protein product'
+   'coatomer protein complex subunit beta 2' SubClassOf 'has_chromosomal_location' value "3q23"^^http://www.w3.org/2001/XMLSchema#string
+   'coatomer protein complex subunit beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_505326
Label: single stranded DNA binding protein 1
+   'single stranded DNA binding protein 1' SubClassOf 'has_chromosomal_location' value "7q34"^^http://www.w3.org/2001/XMLSchema#string
+   'single stranded DNA binding protein 1' SubClassOf 'gene with protein product'
+   'single stranded DNA binding protein 1' SubClassOf 'Major susceptibility factor in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
 
Class: http://www.orpha.net/ORDO/Orphanet_508638
Label: alkaline ceramidase 3
+   'alkaline ceramidase 3' SubClassOf 'gene with protein product'
+   'alkaline ceramidase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alkaline ceramidase 3 deficiency'
+   'alkaline ceramidase 3' SubClassOf 'has_chromosomal_location' value "11q13.5"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_503127
Label: nucleoredoxin
+   'nucleoredoxin' SubClassOf 'gene with protein product'
+   'nucleoredoxin' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive Robinow syndrome'
+   'nucleoredoxin' SubClassOf 'has_chromosomal_location' value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_505208
Label: 3-methylglutaconic aciduria type 8
+   '3-methylglutaconic aciduria type 8' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   '3-methylglutaconic aciduria type 8' SubClassOf 'disease'
+   '3-methylglutaconic aciduria type 8' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 9.0f)
+   '3-methylglutaconic aciduria type 8' SubClassOf 'part_of' some '3-methylglutaconic aciduria'
+   '3-methylglutaconic aciduria type 8' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   '3-methylglutaconic aciduria type 8' SubClassOf 'part_of' some 'Neurometabolic disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_289390
Label: Primary Sj�gren syndrome
+   'Primary Sj�gren syndrome' SubClassOf 'part_of' some 'Systemic autoimmune disease'
+   'Primary Sj�gren syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 48.99f)
+   'Primary Sj�gren syndrome' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.9f)
+   'Primary Sj�gren syndrome' SubClassOf ('present_in' some 'Norway') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 49.745f)
+   'Primary Sj�gren syndrome' SubClassOf 'disease'
+   'Primary Sj�gren syndrome' SubClassOf ('present_in' some 'Greece') and ('has_point_prevalence_range' some '6-9 / 10 000') and ('has_point_prevalence_average_value' value 86.398f)
+   'Primary Sj�gren syndrome' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 11.343f)
+   'Primary Sj�gren syndrome' SubClassOf ('present_in' some 'Denmark') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 45.47f)
 
Class: http://www.orpha.net/ORDO/Orphanet_99645
Label: Dappled diaphyseal dysplasia
+   'Dappled diaphyseal dysplasia' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_505248
Label: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare genetic respiratory disease'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 19.0f)
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare pulmonary disease'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'malformation syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_505242
Label: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Disorder of zinc metabolism and transport'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'disease'
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
+   'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_505216
Label: 3-methylglutaconic aciduria type 9
+   '3-methylglutaconic aciduria type 9' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   '3-methylglutaconic aciduria type 9' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
+   '3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some '3-methylglutaconic aciduria'
+   '3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy'
+   '3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   '3-methylglutaconic aciduria type 9' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   '3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Neurometabolic disease'
+   '3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   '3-methylglutaconic aciduria type 9' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   '3-methylglutaconic aciduria type 9' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_505227
Label: Combined immunodeficiency due to GINS1 deficiency
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies'
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'disease'
+   'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_158014
Label: Rosa�-Dorfman disease
+   'Rosa�-Dorfman disease' SubClassOf 'has_AgeOfOnset' some 'adolescent'
+   'Rosa�-Dorfman disease' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis'
+   'Rosa�-Dorfman disease' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 1000.0f)
+   'Rosa�-Dorfman disease' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Rosa�-Dorfman disease' SubClassOf 'disease'
+   'Rosa�-Dorfman disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
 
Class: http://www.orpha.net/ORDO/Orphanet_294942
Label: OBSOLETE: Postaxial polydactyly of fingers
+   'OBSOLETE: Postaxial polydactyly of fingers' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294929
Label: OBSOLETE: Terminal limb defects
+   'OBSOLETE: Terminal limb defects' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294939
Label: OBSOLETE: Preaxial polydactyly of fingers
+   'OBSOLETE: Preaxial polydactyly of fingers' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294935
Label: OBSOLETE: Split hand or/and split foot malformation
+   'OBSOLETE: Split hand or/and split foot malformation' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294937
Label: OBSOLETE: Brachydactyly
+   'OBSOLETE: Brachydactyly' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294931
Label: OBSOLETE: Adactyly of hand
+   'OBSOLETE: Adactyly of hand' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_494547
Label: Squamous cell carcinoma of the hypopharynx
+   'Squamous cell carcinoma of the hypopharynx' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 1.27f)
+   'Squamous cell carcinoma of the hypopharynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
+   'Squamous cell carcinoma of the hypopharynx' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_494550
Label: Squamous cell carcinoma of the larynx
+   'Squamous cell carcinoma of the larynx' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 4.61f)
+   'Squamous cell carcinoma of the larynx' SubClassOf 'disease'
+   'Squamous cell carcinoma of the larynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
 
Class: http://www.orpha.net/ORDO/Orphanet_294998
Label: OBSOLETE: Brachydactyly of toes
+   'OBSOLETE: Brachydactyly of toes' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294996
Label: OBSOLETE: Brachydactyly of fingers
+   'OBSOLETE: Brachydactyly of fingers' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_508711
Label: zinc finger protein 462
+   'zinc finger protein 462' SubClassOf 'gene with protein product'
+   'zinc finger protein 462' SubClassOf 'has_chromosomal_location' value "9q31.2"^^http://www.w3.org/2001/XMLSchema#string
+   'zinc finger protein 462' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metopic ridging-ptosis-facial dysmorphism syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_294992
Label: OBSOLETE: Split hand
+   'OBSOLETE: Split hand' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294994
Label: OBSOLETE: Split foot
+   'OBSOLETE: Split foot' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_294990
Label: OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb
+   'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_508692
Label: misato 1, mitochondrial distribution and morphology regulator
+   'misato 1, mitochondrial distribution and morphology regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome'
+   'misato 1, mitochondrial distribution and morphology regulator' SubClassOf 'gene with protein product'
+   'misato 1, mitochondrial distribution and morphology regulator' SubClassOf 'has_chromosomal_location' value "1q22"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_471072
Label: solute carrier family 1 member 2
+   'solute carrier family 1 member 2' SubClassOf 'gene with protein product'
+   'solute carrier family 1 member 2' SubClassOf 'has_chromosomal_location' value "11p13"^^http://www.w3.org/2001/XMLSchema#string
+   'solute carrier family 1 member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_508685
Label: prolyl 4-hydroxylase subunit alpha 1
+   'prolyl 4-hydroxylase subunit alpha 1' SubClassOf 'gene with protein product'
+   'prolyl 4-hydroxylase subunit alpha 1' SubClassOf 'has_chromosomal_location' value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'prolyl 4-hydroxylase subunit alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, musculocontractural type'
 
Class: http://www.orpha.net/ORDO/Orphanet_471032
Label: sodium voltage-gated channel alpha subunit 3
+   'sodium voltage-gated channel alpha subunit 3' SubClassOf 'gene with protein product'
+   'sodium voltage-gated channel alpha subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
+   'sodium voltage-gated channel alpha subunit 3' SubClassOf 'has_chromosomal_location' value "2q24.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_512103
Label: Autosomal recessive epidermolytic ichthyosis
+   'Autosomal recessive epidermolytic ichthyosis' SubClassOf 'part_of' some 'Keratinopathic ichthyosis'
+   'Autosomal recessive epidermolytic ichthyosis' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_1844
Label: OBSOLETE: Bone dysplasia, Azouz type
+   'OBSOLETE: Bone dysplasia, Azouz type' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_481508
Label: Gastroenteric neuroendocrine neoplasm
+   'Gastroenteric neuroendocrine neoplasm' SubClassOf 'group of disorders'
+   'Gastroenteric neuroendocrine neoplasm' SubClassOf 'Gastroenteropancreatic neuroendocrine neoplasm'
 
Class: http://www.orpha.net/ORDO/Orphanet_505623
Label: 5-hydroxytryptamine receptor 1A
+   '5-hydroxytryptamine receptor 1A' SubClassOf 'gene with protein product'
+   '5-hydroxytryptamine receptor 1A' SubClassOf 'has_chromosomal_location' value "5q12.3"^^http://www.w3.org/2001/XMLSchema#string
+   '5-hydroxytryptamine receptor 1A' SubClassOf 'Candidate gene tested in' some 'Menstrual cycle-dependent periodic fever'
 
Class: http://www.orpha.net/ORDO/Orphanet_512271
Label: canopy FGF signaling regulator 3
+   'canopy FGF signaling regulator 3' SubClassOf 'has_chromosomal_location' value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string
+   'canopy FGF signaling regulator 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome'
+   'canopy FGF signaling regulator 3' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_508029
Label: upstream binding transcription factor
+   'upstream binding transcription factor' SubClassOf 'gene with protein product'
+   'upstream binding transcription factor' SubClassOf 'has_chromosomal_location' value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string
+   'upstream binding transcription factor' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder'
 
Class: http://www.orpha.net/ORDO/Orphanet_508018
Label: trafficking protein particle complex 12
+   'trafficking protein particle complex 12' SubClassOf 'has_chromosomal_location' value "2p25.3"^^http://www.w3.org/2001/XMLSchema#string
+   'trafficking protein particle complex 12' SubClassOf 'gene with protein product'
+   'trafficking protein particle complex 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_508071
Label: FGF1 intracellular binding protein
+   'FGF1 intracellular binding protein' SubClassOf 'has_chromosomal_location' value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string
+   'FGF1 intracellular binding protein' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tall stature-intellectual disability-renal anomalies syndrome'
+   'FGF1 intracellular binding protein' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_481671
Label: Type 1 interferonopathy of childhood
+   'Type 1 interferonopathy of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
+   'Type 1 interferonopathy of childhood' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_504476
Label: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
+   'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease'
+   'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy'
+   'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia'
+   'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_505586
Label: leucine rich repeat kinase 1
+   'leucine rich repeat kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteosclerotic metaphyseal dysplasia'
+   'leucine rich repeat kinase 1' SubClassOf 'gene with protein product'
+   'leucine rich repeat kinase 1' SubClassOf 'has_chromosomal_location' value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_505596
Label: nucleus accumbens associated 1
+   'nucleus accumbens associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract'
+   'nucleus accumbens associated 1' SubClassOf 'gene with protein product'
+   'nucleus accumbens associated 1' SubClassOf 'has_chromosomal_location' value "19p13.13"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_494042
Label: sphingosine-1-phosphate lyase 1
+   'sphingosine-1-phosphate lyase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency'
+   'sphingosine-1-phosphate lyase 1' SubClassOf 'gene with protein product'
+   'sphingosine-1-phosphate lyase 1' SubClassOf 'has_chromosomal_location' value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_489892
Label: RAB11A, member RAS oncogene family
+   'RAB11A, member RAS oncogene family' SubClassOf 'gene with protein product'
+   'RAB11A, member RAS oncogene family' SubClassOf 'has_chromosomal_location' value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string
+   'RAB11A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_494099
Label: lysine methyltransferase 2C
+   'lysine methyltransferase 2C' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Kleefstra syndrome due to a point mutation'
+   'lysine methyltransferase 2C' SubClassOf 'gene with protein product'
+   'lysine methyltransferase 2C' SubClassOf 'has_chromosomal_location' value "7q36.1"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_513401
Label: glycoprotein nmb
+   'glycoprotein nmb' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Amyloidosis cutis dyschromia'
+   'glycoprotein nmb' SubClassOf 'has_chromosomal_location' value "7p15.3"^^http://www.w3.org/2001/XMLSchema#string
+   'glycoprotein nmb' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_513418
Label: chromosome X open reading frame 56
+   'chromosome X open reading frame 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability'
+   'chromosome X open reading frame 56' SubClassOf 'gene with protein product'
+   'chromosome X open reading frame 56' SubClassOf 'has_chromosomal_location' value "Xq24"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_1773
Label: Sacrococcygeal dysgenesis association
+   'Sacrococcygeal dysgenesis association' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_494163
Label: kyphoscoliosis peptidase
+   'kyphoscoliosis peptidase' SubClassOf 'gene with protein product'
+   'kyphoscoliosis peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome'
+   'kyphoscoliosis peptidase' SubClassOf 'has_chromosomal_location' value "3q22.2"^^http://www.w3.org/2001/XMLSchema#string
+   'kyphoscoliosis peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_500095
Label: Tall stature-intellectual disability-renal anomalies syndrome
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'malformation syndrome'
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_500062
Label: Infantile-onset periodic fever-panniculitis-dermatosis syndrome
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome'
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'disease'
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
 
Class: http://www.orpha.net/ORDO/Orphanet_495237
Label: STE20-related kinase adaptor alpha
+   'STE20-related kinase adaptor alpha' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome'
+   'STE20-related kinase adaptor alpha' SubClassOf 'has_chromosomal_location' value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string
+   'STE20-related kinase adaptor alpha' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_481481
Label: OBSOLETE: Gastric neuroendocrine tumor type 4
+   'OBSOLETE: Gastric neuroendocrine tumor type 4' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_481469
Label: OBSOLETE: Gastric neuroendocrine tumor type 1
+   'OBSOLETE: Gastric neuroendocrine tumor type 1' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_481478
Label: OBSOLETE: Gastric neuroendocrine tumor type 3
+   'OBSOLETE: Gastric neuroendocrine tumor type 3' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_481475
Label: OBSOLETE: Gastric neuroendocrine tumor type 2
+   'OBSOLETE: Gastric neuroendocrine tumor type 2' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_500055
Label: 16p13.2 microdeletion syndrome
+   '16p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome'
+   '16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   '16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   '16p13.2 microdeletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
+   '16p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   '16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16'
+   '16p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   '16p13.2 microdeletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_500277
Label: phosphodiesterase 10A
+   'phosphodiesterase 10A' SubClassOf 'gene with protein product'
+   'phosphodiesterase 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset benign chorea with striatal involvement'
+   'phosphodiesterase 10A' SubClassOf 'has_chromosomal_location' value "6q27"^^http://www.w3.org/2001/XMLSchema#string
+   'phosphodiesterase 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset generalized dyskinesia with orofacial involvement'
 
Class: http://www.orpha.net/ORDO/Orphanet_499096
Label: Isolated optic neuritis
+   'Isolated optic neuritis' SubClassOf 'disease'
+   'Isolated optic neuritis' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_499085
Label: Chronic relapsing inflammatory optic neuropathy
+   'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'disease'
+   'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_470380
Label: GINS complex subunit 1
+   'GINS complex subunit 1' SubClassOf 'gene with protein product'
+   'GINS complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Combined immunodeficiency due to GINS1 deficiency'
+   'GINS complex subunit 1' SubClassOf 'has_chromosomal_location' value "20p11.21"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_499047
Label: Autoimmune/inflammatory optic neuropathy
+   'Autoimmune/inflammatory optic neuropathy' SubClassOf 'group of disorders'
+   'Autoimmune/inflammatory optic neuropathy' SubClassOf 'Rare inflammatory eye disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_499004
Label: Tuberculous meningitis
+   'Tuberculous meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system'
+   'Tuberculous meningitis' SubClassOf 'part_of' some 'Rare bacterial infectious disease'
+   'Tuberculous meningitis' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_499009
Label: Congenital syphilis
+   'Congenital syphilis' SubClassOf 'part_of' some 'Infectious embryofetopathy'
+   'Congenital syphilis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.0f)
+   'Congenital syphilis' SubClassOf 'disease'
+   'Congenital syphilis' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 15.7f)
+   'Congenital syphilis' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Congenital syphilis' SubClassOf 'has_AgeOfOnset' some 'antenatal'
 
Class: http://www.orpha.net/ORDO/Orphanet_319719
Label: Autoinflammatory syndrome of childhood
+   'Autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
+   'Autoinflammatory syndrome of childhood' SubClassOf 'Rare pediatric rheumatologic disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_470366
Label: gamma-aminobutyric acid type A receptor beta2 subunit
+   'gamma-aminobutyric acid type A receptor beta2 subunit' SubClassOf 'has_chromosomal_location' value "5q34"^^http://www.w3.org/2001/XMLSchema#string
+   'gamma-aminobutyric acid type A receptor beta2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
+   'gamma-aminobutyric acid type A receptor beta2 subunit' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_500159
Label: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'has_inheritance' some 'autosomal dominant'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'malformation syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_500150
Label: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 29.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_500144
Label: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'malformation syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_500135
Label: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Lethal multiple congenital anomalies/dysmorphic syndrome'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'malformation syndrome'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
+   'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_500188
Label: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'malformation syndrome'
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'x-linked recessive'
+   'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Pinnae and external auditory canal anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_499182
Label: Pilomatrix carcinoma
+   'Pilomatrix carcinoma' SubClassOf 'disease'
+   'Pilomatrix carcinoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma'
 
Class: http://www.orpha.net/ORDO/Orphanet_500180
Label: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'has_inheritance' some 'autosomal dominant'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease'
+   'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_500163
Label: SIN3A-related intellectual disability syndrome
+   'SIN3A-related intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'SIN3A-related intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'SIN3A-related intellectual disability syndrome' SubClassOf 'malformation syndrome'
+   'SIN3A-related intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'SIN3A-related intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'SIN3A-related intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'SIN3A-related intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'SIN3A-related intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 15.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_500166
Label: SIN3A-related intellectual disability syndrome due to a point mutation
+   'SIN3A-related intellectual disability syndrome due to a point mutation' SubClassOf 'etiological subtype'
+   'SIN3A-related intellectual disability syndrome due to a point mutation' SubClassOf 'part_of' some 'SIN3A-related intellectual disability syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_470286
Label: erythropoietin
+   'erythropoietin' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Autosomal dominant secondary polycythemia'
+   'erythropoietin' SubClassOf 'has_chromosomal_location' value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'erythropoietin' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_486955
Label: Rare pediatric rheumatologic disease
+   'Rare pediatric rheumatologic disease' SubClassOf 'Rare systemic or rheumatological disease of childhood'
+   'Rare pediatric rheumatologic disease' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_499107
Label: Optic perineuritis
+   'Optic perineuritis' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
+   'Optic perineuritis' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_499103
Label: Recurrent idiopathic neuroretinitis
+   'Recurrent idiopathic neuroretinitis' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
+   'Recurrent idiopathic neuroretinitis' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_501654
Label: cadherin 11
+   'cadherin 11' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Branchioskeletogenital syndrome'
+   'cadherin 11' SubClassOf 'has_chromosomal_location' value "16q21"^^http://www.w3.org/2001/XMLSchema#string
+   'cadherin 11' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_501662
Label: myosin IH
+   'myosin IH' SubClassOf 'has_chromosomal_location' value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string
+   'myosin IH' SubClassOf 'gene with protein product'
+   'myosin IH' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_501665
Label: filaggrin family member 2
+   'filaggrin family member 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Peeling skin syndrome type A'
+   'filaggrin family member 2' SubClassOf 'has_chromosomal_location' value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string
+   'filaggrin family member 2' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_470204
Label: discs large MAGUK scaffold protein 1
+   'discs large MAGUK scaffold protein 1' SubClassOf 'Major susceptibility factor in' some 'Cleft lip/palate'
+   'discs large MAGUK scaffold protein 1' SubClassOf 'has_chromosomal_location' value "3q29"^^http://www.w3.org/2001/XMLSchema#string
+   'discs large MAGUK scaffold protein 1' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_500481
Label: Squamous cell carcinoma of salivary glands
+   'Squamous cell carcinoma of salivary glands' SubClassOf 'part_of' some 'Malignant epithelial tumor of salivary glands'
+   'Squamous cell carcinoma of salivary glands' SubClassOf 'histopathological subtype'
 
Class: http://www.orpha.net/ORDO/Orphanet_500484
Label: NUS1, dehydrodolichyl diphosphate synthase subunit
+   'NUS1, dehydrodolichyl diphosphate synthase subunit' SubClassOf 'has_chromosomal_location' value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'NUS1, dehydrodolichyl diphosphate synthase subunit' SubClassOf 'gene with protein product'
+   'NUS1, dehydrodolichyl diphosphate synthase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_496171
Label: ferric chelate reductase 1 like
+   'ferric chelate reductase 1 like' SubClassOf 'Candidate gene tested in' some 'Continuous spikes and waves during sleep'
+   'ferric chelate reductase 1 like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability'
+   'ferric chelate reductase 1 like' SubClassOf 'has_chromosomal_location' value "9q31.3"^^http://www.w3.org/2001/XMLSchema#string
+   'ferric chelate reductase 1 like' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_506784
Label: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
+   'Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome' SubClassOf 'part_of' some 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum'
+   'Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome' SubClassOf 'clinical subtype'
 
Class: http://www.orpha.net/ORDO/Orphanet_512017
Label: Chronic lymphoproliferative disorder of natural killer cells
+   'Chronic lymphoproliferative disorder of natural killer cells' SubClassOf 'disease'
+   'Chronic lymphoproliferative disorder of natural killer cells' SubClassOf 'part_of' some 'Large granular lymphocyte leukemia'
 
Class: http://www.orpha.net/ORDO/Orphanet_512034
Label: Large granular lymphocyte leukemia
+   'Large granular lymphocyte leukemia' SubClassOf 'T-cell non-Hodgkin lymphoma'
+   'Large granular lymphocyte leukemia' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_500464
Label: Squamous cell carcinoma of the nasal cavity and paranasal sinuses
+   'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.35f)
+   'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
+   'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_500478
Label: Squamous cell carcinoma of the oropharynx
+   'Squamous cell carcinoma of the oropharynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
+   'Squamous cell carcinoma of the oropharynx' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 3.12f)
+   'Squamous cell carcinoma of the oropharynx' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_469968
Label: ATPase family, AAA domain containing 3A
+   'ATPase family, AAA domain containing 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Optic atrophy-peripheral neuropathy-developmental delay syndrome'
+   'ATPase family, AAA domain containing 3A' SubClassOf 'has_chromosomal_location' value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string
+   'ATPase family, AAA domain containing 3A' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_500352
Label: exosome component 2
+   'exosome component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome'
+   'exosome component 2' SubClassOf 'has_chromosomal_location' value "9q34.12"^^http://www.w3.org/2001/XMLSchema#string
+   'exosome component 2' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_506052
Label: Neuroendocrine neoplasm of pancreas
+   'Neuroendocrine neoplasm of pancreas' SubClassOf 'Rare epithelial tumor of pancreas'
+   'Neuroendocrine neoplasm of pancreas' SubClassOf 'group of disorders'
+   'Neuroendocrine neoplasm of pancreas' SubClassOf 'Gastroenteropancreatic neuroendocrine neoplasm'
 
Class: http://www.orpha.net/ORDO/Orphanet_506060
Label: Functioning neuroendocrine tumor of pancreas
+   'Functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Functioning neuroendocrine tumor of pancreas' SubClassOf 'Neuroendocrine tumor of pancreas'
+   'Functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'elderly'
+   'Functioning neuroendocrine tumor of pancreas' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_506075
Label: Non-functioning neuroendocrine tumor of pancreas
+   'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'part_of' some 'Neuroendocrine tumor of pancreas'
+   'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'disease'
+   'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'elderly'
 
Class: http://www.orpha.net/ORDO/Orphanet_506090
Label: Serotonin-producing neuroendocrine tumor of pancreas
+   'Serotonin-producing neuroendocrine tumor of pancreas' SubClassOf 'disease'
+   'Serotonin-producing neuroendocrine tumor of pancreas' SubClassOf 'part_of' some 'Functioning neuroendocrine tumor of pancreas'
 
Class: http://www.orpha.net/ORDO/Orphanet_506098
Label: Neuroendocrine carcinoma of pancreas
+   'Neuroendocrine carcinoma of pancreas' SubClassOf 'part_of' some 'Neuroendocrine neoplasm of pancreas'
+   'Neuroendocrine carcinoma of pancreas' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_506124
Label: OBSOLETE: Neuroendocrine tumor of small intestine
+   'OBSOLETE: Neuroendocrine tumor of small intestine' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_506136
Label: Neuroendocrine neoplasm of esophagus
+   'Neuroendocrine neoplasm of esophagus' SubClassOf 'part_of' some 'Gastroenteric neuroendocrine neoplasm'
+   'Neuroendocrine neoplasm of esophagus' SubClassOf 'part_of' some 'Rare gastroesophageal tumor'
+   'Neuroendocrine neoplasm of esophagus' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_506112
Label: Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas
+   'Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas' SubClassOf 'disease'
+   'Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas' SubClassOf 'part_of' some 'Neuroendocrine neoplasm of pancreas'
 
Class: http://www.orpha.net/ORDO/Orphanet_435623
Label: OBSOLETE: Adactyly of foot
+   'OBSOLETE: Adactyly of foot' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_471340
Label: exportin 1
+   'exportin 1' SubClassOf 'gene with protein product'
+   'exportin 1' SubClassOf 'Candidate gene tested in' some 'Primary mediastinal large B-cell lymphoma'
+   'exportin 1' SubClassOf 'has_chromosomal_location' value "2p15"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_471344
Label: YY1 transcription factor
+   'YY1 transcription factor' SubClassOf 'has_chromosomal_location' value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string
+   'YY1 transcription factor' SubClassOf 'gene with protein product'
+   'YY1 transcription factor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Gabriele de Vries syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_500548
Label: Osteosclerotic metaphyseal dysplasia
+   'Osteosclerotic metaphyseal dysplasia' SubClassOf 'part_of' some 'Osteopetrosis and related disorders'
+   'Osteosclerotic metaphyseal dysplasia' SubClassOf 'malformation syndrome'
+   'Osteosclerotic metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Osteosclerotic metaphyseal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
+   'Osteosclerotic metaphyseal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_500545
Label: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Monogenic disease with epilepsy'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Rare disease with autism'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Syndromic cataract'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'disease'
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
+   'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_471312
Label: ubiquitin specific peptidase 7
+   'ubiquitin specific peptidase 7' SubClassOf 'Role in the phenotype of' some '16p13.2 microdeletion syndrome'
+   'ubiquitin specific peptidase 7' SubClassOf 'gene with protein product'
+   'ubiquitin specific peptidase 7' SubClassOf 'has_chromosomal_location' value "16p13.2"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_500533
Label: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 17.0f)
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'disease'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_500523
Label: solute carrier family 25 member 24
+   'solute carrier family 25 member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin-Chaudhry-Moss syndrome'
+   'solute carrier family 25 member 24' SubClassOf 'has_chromosomal_location' value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string
+   'solute carrier family 25 member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeroid syndrome, Petty type'
+   'solute carrier family 25 member 24' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_500509
Label: protein phosphatase 3 catalytic subunit alpha
+   'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'gene with protein product'
+   'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
+   'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'has_chromosomal_location' value "4q24"^^http://www.w3.org/2001/XMLSchema#string
+   'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
 
Class: http://www.orpha.net/ORDO/Orphanet_471288
Label: ubiquitin fold modifier 1
+   'ubiquitin fold modifier 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with atrophy of basal ganglia and cerebellum'
+   'ubiquitin fold modifier 1' SubClassOf 'has_chromosomal_location' value "13q13.3"^^http://www.w3.org/2001/XMLSchema#string
+   'ubiquitin fold modifier 1' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_507848
Label: epidermal growth factor receptor pathway substrate 15 like 1
+   'epidermal growth factor receptor pathway substrate 15 like 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Isolated split hand-split foot malformation'
+   'epidermal growth factor receptor pathway substrate 15 like 1' SubClassOf 'gene with protein product'
+   'epidermal growth factor receptor pathway substrate 15 like 1' SubClassOf 'has_chromosomal_location' value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_507834
Label: short chain dehydrogenase/reductase family 9C member 7
+   'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'has_chromosomal_location' value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string
+   'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis'
+   'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_507868
Label: kinesin family member 20A
+   'kinesin family member 20A' SubClassOf 'gene with protein product'
+   'kinesin family member 20A' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated restrictive cardiomyopathy'
+   'kinesin family member 20A' SubClassOf 'has_chromosomal_location' value "5q31.2"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_507877
Label: sperm associated antigen 17
+   'sperm associated antigen 17' SubClassOf 'gene with protein product'
+   'sperm associated antigen 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder'
+   'sperm associated antigen 17' SubClassOf 'has_chromosomal_location' value "1p12"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_500851
Label: dynein axonemal light chain 4
+   'dynein axonemal light chain 4' SubClassOf 'gene with protein product'
+   'dynein axonemal light chain 4' SubClassOf 'has_chromosomal_location' value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string
+   'dynein axonemal light chain 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements'
 
Class: http://www.orpha.net/ORDO/Orphanet_506307
Label: Stromme syndrome
+   'Stromme syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Stromme syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation'
+   'Stromme syndrome' SubClassOf 'malformation syndrome'
+   'Stromme syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Stromme syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye'
+   'Stromme syndrome' SubClassOf 'part_of' some 'Developmental defect of the eye'
 
Class: http://www.orpha.net/ORDO/Orphanet_506334
Label: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
+   'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis'
+   'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'disease'
+   'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome'
+   'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency'
 
Class: http://www.orpha.net/ORDO/Orphanet_500862
Label: ADAM metallopeptidase with thrombospondin type 1 motif 3
+   'ADAM metallopeptidase with thrombospondin type 1 motif 3' SubClassOf 'gene with protein product'
+   'ADAM metallopeptidase with thrombospondin type 1 motif 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Hennekam syndrome'
+   'ADAM metallopeptidase with thrombospondin type 1 motif 3' SubClassOf 'has_chromosomal_location' value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_471180
Label: TGF-beta activated kinase 1 (MAP3K7) binding protein 2
+   'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polyvalvular heart disease syndrome'
+   'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'gene with protein product'
+   'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'has_chromosomal_location' value "6q25.1"^^http://www.w3.org/2001/XMLSchema#string
+   'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'Role in the phenotype of' some 'Polyvalvular heart disease syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_471192
Label: tubulin folding cofactor D
+   'tubulin folding cofactor D' SubClassOf 'gene with protein product'
+   'tubulin folding cofactor D' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome'
+   'tubulin folding cofactor D' SubClassOf 'has_chromosomal_location' value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_506368
Label: ARV1 homolog, fatty acid homeostasis modulator
+   'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'Candidate gene tested in' some 'Undetermined early-onset epileptic encephalopathy'
+   'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'has_chromosomal_location' value "1q42.2"^^http://www.w3.org/2001/XMLSchema#string
+   'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_470016
Label: Hikeshi, heat shock protein nuclear import factor
+   'Hikeshi, heat shock protein nuclear import factor' SubClassOf 'has_chromosomal_location' value "11q14.2"^^http://www.w3.org/2001/XMLSchema#string
+   'Hikeshi, heat shock protein nuclear import factor' SubClassOf 'gene with protein product'
+   'Hikeshi, heat shock protein nuclear import factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'C11ORF73-related autosomal recessive hypomyelinating leukodystrophy'
 
Class: http://www.orpha.net/ORDO/Orphanet_506353
Label: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'disease'
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement'
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia'
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
+   'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
 
Class: http://www.orpha.net/ORDO/Orphanet_506358
Label: Gabriele de Vries syndrome
+   'Gabriele de Vries syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Gabriele de Vries syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
+   'Gabriele de Vries syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
+   'Gabriele de Vries syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 10.0f)
+   'Gabriele de Vries syndrome' SubClassOf 'malformation syndrome'
+   'Gabriele de Vries syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'Gabriele de Vries syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
+   'Gabriele de Vries syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
 
Class: http://www.orpha.net/ORDO/Orphanet_471134
Label: SON DNA binding protein
+   'SON DNA binding protein' SubClassOf 'has_chromosomal_location' value "21q22.11"^^http://www.w3.org/2001/XMLSchema#string
+   'SON DNA binding protein' SubClassOf 'gene with protein product'
+   'SON DNA binding protein' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome'
 
Class: http://www.orpha.net/ORDO/Orphanet_471156
Label: stromal antigen 1
+   'stromal antigen 1' SubClassOf 'has_chromosomal_location' value "3q22.3"^^http://www.w3.org/2001/XMLSchema#string
+   'stromal antigen 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome'
+   'stromal antigen 1' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_507966
Label: G protein-coupled receptor associated sorting protein 2
+   'G protein-coupled receptor associated sorting protein 2' SubClassOf 'has_chromosomal_location' value "Xq22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'G protein-coupled receptor associated sorting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome'
+   'G protein-coupled receptor associated sorting protein 2' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_507959
Label: OTU deubiquitinase with linear linkage specificity
+   'OTU deubiquitinase with linear linkage specificity' SubClassOf 'has_chromosomal_location' value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string
+   'OTU deubiquitinase with linear linkage specificity' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Infantile-onset periodic fever-panniculitis-dermatosis syndrome'
+   'OTU deubiquitinase with linear linkage specificity' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_484112
Label: ubiquitin specific peptidase 18
+   'ubiquitin specific peptidase 18' SubClassOf 'has_chromosomal_location' value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string
+   'ubiquitin specific peptidase 18' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'USP18 deficiency'
+   'ubiquitin specific peptidase 18' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_500722
Label: transmembrane and tetratricopeptide repeat containing 3
+   'transmembrane and tetratricopeptide repeat containing 3' SubClassOf 'has_chromosomal_location' value "12q21.32"^^http://www.w3.org/2001/XMLSchema#string
+   'transmembrane and tetratricopeptide repeat containing 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Periventricular nodular heterotopia'
+   'transmembrane and tetratricopeptide repeat containing 3' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_500726
Label: GLI family zinc finger 1
+   'GLI family zinc finger 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Ellis Van Creveld syndrome'
+   'GLI family zinc finger 1' SubClassOf 'has_chromosomal_location' value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string
+   'GLI family zinc finger 1' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_506401
Label: gamma-glutamyltransferase 1
+   'gamma-glutamyltransferase 1' SubClassOf 'has_chromosomal_location' value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string
+   'gamma-glutamyltransferase 1' SubClassOf 'gene with protein product'
+   'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency'
 
Class: http://www.orpha.net/ORDO/Orphanet_507938
Label: angiopoietin like 6
+   'angiopoietin like 6' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial cerebral saccular aneurysm'
+   'angiopoietin like 6' SubClassOf 'gene with protein product'
+   'angiopoietin like 6' SubClassOf 'has_chromosomal_location' value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_498228
Label: Phyllodes tumor of the prostate
+   'Phyllodes tumor of the prostate' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 90.0f)
+   'Phyllodes tumor of the prostate' SubClassOf 'disease'
+   'Phyllodes tumor of the prostate' SubClassOf 'part_of' some 'Rare urinary tract tumor'
+   'Phyllodes tumor of the prostate' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Phyllodes tumor of the prostate' SubClassOf 'has_AgeOfOnset' some 'elderly'
 
Class: http://www.orpha.net/ORDO/Orphanet_497188
Label: Diffuse intrinsic pontine glioma
+   'Diffuse intrinsic pontine glioma' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Netherlands') and ('has_annual_incidence_average_value' value 0.056f)
+   'Diffuse intrinsic pontine glioma' SubClassOf 'part_of' some 'High-grade astrocytoma'
+   'Diffuse intrinsic pontine glioma' SubClassOf 'has_AgeOfOnset' some 'all ages'
+   'Diffuse intrinsic pontine glioma' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_498251
Label: Menstrual cycle-dependent periodic fever
+   'Menstrual cycle-dependent periodic fever' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Menstrual cycle-dependent periodic fever' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Menstrual cycle-dependent periodic fever' SubClassOf 'disease'
+   'Menstrual cycle-dependent periodic fever' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle'
+   'Menstrual cycle-dependent periodic fever' SubClassOf 'has_AgeOfOnset' some 'adolescent'
+   'Menstrual cycle-dependent periodic fever' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_498359
Label: Aquagenic palmoplantar keratoderma
+   'Aquagenic palmoplantar keratoderma' SubClassOf 'part_of' some 'Other epidermal disorder'
+   'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'adult'
+   'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'childhood'
+   'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'adolescent'
+   'Aquagenic palmoplantar keratoderma' SubClassOf 'disease'
+   'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Aquagenic palmoplantar keratoderma' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
 
Class: http://www.orpha.net/ORDO/Orphanet_498350
Label: Syndromic biliary atresia
+   'Syndromic biliary atresia' SubClassOf 'group of disorders'
+   'Syndromic biliary atresia' SubClassOf 'Biliary atresia and associated disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_498345
Label: Biliary atresia and associated disorders
+   'Biliary atresia and associated disorders' SubClassOf 'Rare biliary tract disease'
+   'Biliary atresia and associated disorders' SubClassOf 'group of disorders'
 
Class: http://www.orpha.net/ORDO/Orphanet_498301
Label: ring finger and WD repeat domain 3
+   'ring finger and WD repeat domain 3' SubClassOf 'gene with protein product'
+   'ring finger and WD repeat domain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia'
+   'ring finger and WD repeat domain 3' SubClassOf 'has_chromosomal_location' value "16q23.1"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_3200
Label: Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance'
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'malformation syndrome'
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis'
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome'
+   'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_470694
Label: moesin
+   'moesin' SubClassOf 'has_chromosomal_location' value "Xq12"^^http://www.w3.org/2001/XMLSchema#string
+   'moesin' SubClassOf 'gene with protein product'
+   'moesin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to Moesin deficiency'
 
Class: http://www.orpha.net/ORDO/Orphanet_470948
Label: Rac family small GTPase 1
+   'Rac family small GTPase 1' SubClassOf 'has_chromosomal_location' value "7p22.1"^^http://www.w3.org/2001/XMLSchema#string
+   'Rac family small GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom'
+   'Rac family small GTPase 1' SubClassOf 'gene with protein product'
 
Class: http://www.orpha.net/ORDO/Orphanet_79344
Label: Autosomal dominant chondrodysplasia punctata
+   'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'antenatal'
+   'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'Autosomal dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata'
+   'Autosomal dominant chondrodysplasia punctata' SubClassOf 'malformation syndrome'
+   'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'autosomal dominant'
 
Class: http://www.orpha.net/ORDO/Orphanet_498693
Label: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
+   'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
+   'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
+   'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita'
+   'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_470800
Label: netrin 1
+   'netrin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements'
+   'netrin 1' SubClassOf 'gene with protein product'
+   'netrin 1' SubClassOf 'has_chromosomal_location' value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_498700
Label: Limbic encephalitis with neurexin-3 antibodies
+   'Limbic encephalitis with neurexin-3 antibodies' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'disease'
+   'Limbic encephalitis with neurexin-3 antibodies' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
+   'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis'
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Deleted classes:
 
Class: http://www.orpha.net/ORDO/Orphanet_420549
Label: pancreatic lipase
+   'pancreatic lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic colipase deficiency'
+   'pancreatic lipase' SubClassOf 'gene with protein product'
+   'pancreatic lipase' SubClassOf 'has_chromosomal_location' value "10q25.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_2454
Label: Familial intestinal malrotation-facial anomalies syndrome
+   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
+   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'malformation syndrome'
+   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation'
+   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
+   'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_99108
Label: Patent foramen ovale
+   'Patent foramen ovale' SubClassOf 'part_of' some 'Atrial defect and interatrial communication'
+   'Patent foramen ovale' SubClassOf 'morphological anomaly'
 
Class: http://www.orpha.net/ORDO/Orphanet_463
Label: Adrenal incidentaloma
+   'Adrenal incidentaloma' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_180284
Label: Benign ductal tumor of breast
+   'Benign ductal tumor of breast' SubClassOf 'part_of' some 'Rare breast tumor'
+   'Benign ductal tumor of breast' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_67037
Label: Squamous cell carcinoma of head and neck
+   'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'multigenic/multifactorial'
+   'Squamous cell carcinoma of head and neck' SubClassOf 'disease'
+   'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.7f)
+   'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'not inherited'
+   'Squamous cell carcinoma of head and neck' SubClassOf 'has_AgeOfOnset' some 'All ages'
+   'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 8.7f)
+   'Squamous cell carcinoma of head and neck' SubClassOf 'part_of' some 'Rare head and neck tumor'
+   'Squamous cell carcinoma of head and neck' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 49.0f)
 
Class: http://www.orpha.net/ORDO/Orphanet_98682
Label: Essential strabismus
+   'Essential strabismus' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_122086
Label: gamma-glutamyltransferase 1
+   'gamma-glutamyltransferase 1' SubClassOf 'has_chromosomal_location' value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string
+   'gamma-glutamyltransferase 1' SubClassOf 'gene with protein product'
+   'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency'
 
Class: http://www.orpha.net/ORDO/Orphanet_95487
Label: Atypical arterial duct
+   'Atypical arterial duct' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_123313
Label: leukotriene C4 synthase
+   'leukotriene C4 synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-failure to thrive-microcephaly syndrome'
+   'leukotriene C4 synthase' SubClassOf 'gene with protein product'
+   'leukotriene C4 synthase' SubClassOf 'has_chromosomal_location' value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string
 
Class: http://www.orpha.net/ORDO/Orphanet_79142
Label: Familial Dupuytren contracture
+   'Familial Dupuytren contracture' SubClassOf 'obsolete_class'
 
Class: http://www.orpha.net/ORDO/Orphanet_457252
Label: Squamous cell carcinoma of the oral tongue
+   'Squamous cell carcinoma of the oral tongue' SubClassOf 'has_inheritance' some 'not inherited'
+   'Squamous cell carcinoma of the oral tongue' SubClassOf 'part_of' some 'Rare head and neck tumor'
+   'Squamous cell carcinoma of the oral tongue' SubClassOf 'disease'
 
Class: http://www.orpha.net/ORDO/Orphanet_171676
Label: Periventricular leukomalacia
+   'Periventricular leukomalacia' SubClassOf 'disease'
+   'Periventricular leukomalacia' SubClassOf 'part_of' some 'Rare neurologic disease'