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ExFactor Ontology release notes.txt
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ExFactor Ontology release notes.txt
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___ ___ ___
/\__\ /\__\ /\ \
/:/ _/_ /:/ _/_ /::\ \
/:/ /\__\ /:/ /\__\ /:/\:\ \
/:/ /:/ _/_ /:/ /:/ / /:/ \:\ \
/:/_/:/ /\__\ /:/_/:/ / /:/__/ \:\__\
\:\/:/ /:/ / \:\/:/ / \:\ \ /:/ /
\::/_/:/ / \::/__/ \:\ /:/ /
\:\/:/ / \:\ \ \:\/:/ /
\::/ / \:\__\ \::/ /
\/__/ \/__/ \/__/
EFO - Release Notes
Experimental Factor Ontology version 3.71.0
Date Released: 15th October 2024
Class Count: 57,807
Summary:
EFO 3.71.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 2799
Number of classes added: 55
Number of classes deleted: 9
----------------------------------
1. Changes to URIs
2. Changes to EFO
3. Obsolete Classes in EFO
4. Scope of the Ontology
5. External Ontology and Resource Mapping List
6. Known OWL to OBO Conversion Issues
7. Contact Details
----------------------------------
1. Changes to URIs
@Classes new to this version
Class: http://purl.obolibrary.org/obo/MONDO_1040002
Label(s): PIK3CA-related overgrowth spectrum
+ 'PIK3CA-related overgrowth spectrum' SubClassOf 'overgrowth syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_1040009
Label(s): TRIP11-related skeletal dysplasia
+ 'TRIP11-related skeletal dysplasia' SubClassOf 'skeletal dysplasia'
Class: http://purl.obolibrary.org/obo/MONDO_1040015
Label(s): infectious disease with sepsis
+ 'infectious disease with sepsis' SubClassOf 'infectious disease'
Class: http://purl.obolibrary.org/obo/MONDO_1040016
Label(s): cerebral artery stenosis
+ 'cerebral artery stenosis' SubClassOf 'cerebrovascular disorder'
Class: http://purl.obolibrary.org/obo/MONDO_1040026
Label(s): metastatic malignant neoplasm in the brain
+ 'metastatic malignant neoplasm in the brain' SubClassOf 'brain cancer'
+ 'metastatic malignant neoplasm in the brain' SubClassOf 'metastatic malignant neoplasm'
+ 'metastatic malignant neoplasm in the brain' EquivalentTo 'metastatic malignant neoplasm' and ('disease has location' some 'brain')
Class: http://purl.obolibrary.org/obo/MONDO_1040030
Label(s): GBA1-related Parkinson disease, susceptibility
+ 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'predisposes towards' some 'Parkinson disease'
+ 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'inherited disease susceptibility'
Class: http://purl.obolibrary.org/obo/MONDO_1040032
Label(s): EN1-related dorsoventral syndrome
+ 'EN1-related dorsoventral syndrome' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_1040036
Label(s): IMPG1-related dominant retinopathy
+ 'IMPG1-related dominant retinopathy' SubClassOf 'inherited retinal dystrophy'
+ 'IMPG1-related dominant retinopathy' SubClassOf 'autosomal dominant disease'
Class: http://purl.obolibrary.org/obo/MONDO_1040037
Label(s): IMPG1-related recessive retinopathy
+ 'IMPG1-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy'
+ 'IMPG1-related recessive retinopathy' SubClassOf 'autosomal recessive disease'
Class: http://purl.obolibrary.org/obo/MONDO_1040040
Label(s): HGSNAT-related retinopathy
+ 'HGSNAT-related retinopathy' SubClassOf 'inherited retinal dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_1040041
Label(s): FZD4-related exudative vitreoretinopathy
+ 'FZD4-related exudative vitreoretinopathy' SubClassOf 'exudative vitreoretinopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0700282
Label(s): POLR3-related leukodystrophy
+ 'POLR3-related leukodystrophy' SubClassOf 'leukodystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0700277
Label(s): POLR3B-related disorder
+ 'POLR3B-related disorder' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_1030003
Label(s): Mycoplasmoides infection
+ 'Mycoplasmoides infection' SubClassOf 'bacterial disease'
Class: http://purl.obolibrary.org/obo/MONDO_1030015
Label(s): acquired porphyria
+ 'acquired porphyria' SubClassOf 'porphyria'
+ 'acquired porphyria' SubClassOf 'acquired metabolic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0968955
Label(s): hypocalcified amelogenesis imperfecta
+ 'hypocalcified amelogenesis imperfecta' SubClassOf 'amelogenesis imperfecta'
Class: http://purl.obolibrary.org/obo/MONDO_0014508
Label(s): vitelliform macular dystrophy 4
+ 'vitelliform macular dystrophy 4' SubClassOf 'adult-onset foveomacular vitelliform dystrophy'
+ 'vitelliform macular dystrophy 4' SubClassOf 'IMPG1-related recessive retinopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0700275
Label(s): prostate cancer, hereditary
+ 'prostate cancer, hereditary' SubClassOf 'prostate cancer'
+ 'prostate cancer, hereditary' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0700276
Label(s): POLR3A-related disorder
+ 'POLR3A-related disorder' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0019377
Label(s): Mycoplasma encephalitis
+ 'Mycoplasma encephalitis' SubClassOf 'infectious encephalitis'
+ 'Mycoplasma encephalitis' SubClassOf 'Mycoplasmoides infection'
Class: http://purl.obolibrary.org/obo/MONDO_0700280
Label(s): post-treatment Lyme disease syndrome
+ 'post-treatment Lyme disease syndrome' SubClassOf 'post-bacterial disorder'
+ 'post-treatment Lyme disease syndrome' SubClassOf 'disease arises from feature' some 'Lyme disease'
Class: http://purl.obolibrary.org/obo/MONDO_1010030
Label(s): pediatric high-grade glioma
+ 'pediatric high-grade glioma' SubClassOf 'childhood cancer'
+ 'pediatric high-grade glioma' SubClassOf 'malignant glioma'
Class: http://purl.obolibrary.org/obo/MONDO_1040052
Label(s): PROM1-related recessive retinopathy
+ 'PROM1-related recessive retinopathy' SubClassOf 'autosomal recessive disease'
+ 'PROM1-related recessive retinopathy' SubClassOf 'PROM1-related retinopathy'
Class: http://www.ebi.ac.uk/efo/EFO_0022859
Label(s): Visium CytAssist Spatial Gene Expression, 6.5mm
+ 'Visium CytAssist Spatial Gene Expression, 6.5mm' SubClassOf 'Visium CytAssist Spatial Gene Expression V2'
Class: http://www.ebi.ac.uk/efo/EFO_0022858
Label(s): Visium CytAssist Spatial Gene Expression V2
+ 'Visium CytAssist Spatial Gene Expression V2' SubClassOf 'Visium Spatial Gene Expression'
Class: http://www.ebi.ac.uk/efo/EFO_0022857
Label(s): Visium Spatial Gene Expression V1
+ 'Visium Spatial Gene Expression V1' SubClassOf 'Visium Spatial Gene Expression'
Class: http://www.ebi.ac.uk/efo/EFO_0022856
Label(s): feeding problems of newborn
+ 'feeding problems of newborn' SubClassOf 'perinatal disease'
Class: http://www.ebi.ac.uk/efo/EFO_0022855
Label(s): ovary atrophy
+ 'ovary atrophy' SubClassOf 'ovarian disease'
Class: http://www.ebi.ac.uk/efo/EFO_0022854
Label(s): fallopian tube atrophy
+ 'fallopian tube atrophy' SubClassOf 'fallopian tube disease'
Class: http://www.ebi.ac.uk/efo/EFO_0022852
Label(s): conjunctival scar
+ 'conjunctival scar' SubClassOf 'conjunctival disorder'
Class: http://www.ebi.ac.uk/efo/EFO_0022851
Label(s): thoracic root disorder
+ 'thoracic root disorder' SubClassOf 'radiculopathy'
Class: http://www.ebi.ac.uk/efo/EFO_0022850
Label(s): phantom limb syndrome
+ 'phantom limb syndrome' SubClassOf 'nervous system disease'
Class: http://www.ebi.ac.uk/efo/EFO_0022849
Label(s): popliteal nerve lesion
+ 'popliteal nerve lesion' SubClassOf 'peripheral neuropathy'
Class: http://www.ebi.ac.uk/efo/EFO_0022848
Label(s): amino-acid transport disorder
+ 'amino-acid transport disorder' SubClassOf 'metabolic disease'
Class: http://www.ebi.ac.uk/efo/EFO_0022846
Label(s): 5' STRT-seq
+ '5' STRT-seq' SubClassOf 'STRT-seq'
Class: http://www.ebi.ac.uk/efo/EFO_0022845
Label(s): modified STRT-seq
+ 'modified STRT-seq' SubClassOf 'STRT-seq'
Class: http://www.ebi.ac.uk/efo/EFO_0022844
Label(s): fecal microbiota transplantation
+ 'fecal microbiota transplantation' SubClassOf 'medical procedure'
Class: http://www.ebi.ac.uk/efo/EFO_0022843
Label(s): Singular G4
+ 'Singular G4' SubClassOf 'high throughput sequencer'
Class: http://purl.obolibrary.org/obo/GO_0045275
Label(s): respiratory chain complex III
+ 'respiratory chain complex III' SubClassOf 'part_of' some 'membrane'
+ 'respiratory chain complex III' SubClassOf 'cellular_component'
Class: http://purl.obolibrary.org/obo/MONDO_1030005
Label(s): mosaic SMO syndrome
+ 'mosaic SMO syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_1040056
Label(s): PROM1-related retinopathy
+ 'PROM1-related retinopathy' SubClassOf 'inherited retinal dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_1040055
Label(s): PRPH2-related retinopathy
+ 'PRPH2-related retinopathy' SubClassOf 'inherited retinal dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_1040053
Label(s): PROM1-related dominant retinopathy
+ 'PROM1-related dominant retinopathy' SubClassOf 'PROM1-related retinopathy'
+ 'PROM1-related dominant retinopathy' SubClassOf 'autosomal dominant disease'
Class: http://purl.obolibrary.org/obo/MONDO_1040050
Label(s): MKKS-related ciliopathy
+ 'MKKS-related ciliopathy' SubClassOf 'ciliopathy'
Class: http://purl.obolibrary.org/obo/MONDO_1040031
Label(s): dyneinopathy
+ 'dyneinopathy' SubClassOf 'syndromic intellectual disability'
+ 'dyneinopathy' SubClassOf 'exudative vitreoretinopathy'
Class: http://purl.obolibrary.org/obo/MONDO_1040010
Label(s): IRF6-related condition
+ 'IRF6-related condition' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0971004
Label(s): amyloidosis, hereditary systemic 1
+ 'amyloidosis, hereditary systemic 1' SubClassOf 'familial amyloid neuropathy'
Class: http://purl.obolibrary.org/obo/MONDO_1040019
Label(s): Enterococcus infectious disease
+ 'Enterococcus infectious disease' SubClassOf 'bacterial disease'
Class: http://purl.obolibrary.org/obo/MONDO_0971063
Label(s): autosomal dominant dopa-responsive dystonia
+ 'autosomal dominant dopa-responsive dystonia' SubClassOf 'inborn errors of metabolism'
+ 'autosomal dominant dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia'
+ 'autosomal dominant dopa-responsive dystonia' SubClassOf 'inherited dystonia'
Class: http://purl.obolibrary.org/obo/MONDO_0971066
Label(s): megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
+ 'megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'disorder of folate metabolism and transport'
Class: http://www.ebi.ac.uk/efo/EFO_0022847
Label(s): pelvic neoplasm
+ 'pelvic neoplasm' SubClassOf 'neoplasm'
Class: http://www.ebi.ac.uk/efo/EFO_0022853
Label(s): otorrhagia
+ 'otorrhagia' SubClassOf 'disorder of ear'
Class: http://www.ebi.ac.uk/efo/EFO_0022860
Label(s): Visium CytAssist Spatial Gene Expression, 11mm
+ 'Visium CytAssist Spatial Gene Expression, 11mm' SubClassOf 'Visium CytAssist Spatial Gene Expression V2'
Class: http://purl.obolibrary.org/obo/GO_0045259
Label(s): proton-transporting ATP synthase complex
+ 'proton-transporting ATP synthase complex' SubClassOf 'part_of' some 'membrane'
+ 'proton-transporting ATP synthase complex' SubClassOf 'cellular_component'
Class: http://purl.obolibrary.org/obo/MONDO_1030008
Label(s): mitral valve insufficiency
+ 'mitral valve insufficiency' SubClassOf 'mitral valve disease'
----------------------------------
3. Changes to EFO3
@Classes modified from previous
Class: http://purl.obolibrary.org/obo/MONDO_0009015
Label(s): corneal dystrophy-perceptive deafness syndrome
- 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease'
+ 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0009020
Label(s): macular corneal dystrophy
- 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy'
+ 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0012756
Label(s): proximal 16p11.2 microdeletion syndrome
- 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism'
+ 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism'
Class: http://purl.obolibrary.org/obo/MONDO_0012755
Label(s): episodic ataxia type 7
- 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia'
+ 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia'
Class: http://www.ebi.ac.uk/efo/EFO_0005580
Label(s): red color blindness
- 'red color blindness' SubClassOf 'color vision disorder'
+ 'red color blindness' SubClassOf 'color vision disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0002089
Label(s): retinal vascular occlusion
- 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder'
+ 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0030258
Label(s): pontocerebellar hypoplasia, type 14
- 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia'
+ 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0012721
Label(s): progressive myoclonic epilepsy type 3
- 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis'
- 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy'
+ 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis'
+ 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0012720
Label(s): Krabbe disease due to saposin A deficiency
- 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease'
+ 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Krabbe disease'
Class: http://purl.obolibrary.org/obo/MONDO_0002058
Label(s): breast adenoma
- 'breast adenoma' SubClassOf 'benign epithelial neoplasm'
+ 'breast adenoma' SubClassOf 'benign epithelial neoplasm'
Class: http://purl.obolibrary.org/obo/MONDO_0012700
Label(s): renal tubular acidosis, distal, 4, with hemolytic anemia
- 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis'
+ 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis'
Class: http://purl.obolibrary.org/obo/MONDO_0002039
Label(s): cognitive disorder
- 'cognitive disorder' SubClassOf 'psychiatric disorder'
+ 'cognitive disorder' SubClassOf 'psychiatric disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0002038
Label(s): head and neck carcinoma
- 'head and neck carcinoma' SubClassOf 'carcinoma'
+ 'head and neck carcinoma' SubClassOf 'carcinoma'
Class: http://purl.obolibrary.org/obo/MONDO_0002035
Label(s): colon lymphoma
- 'colon lymphoma' SubClassOf 'colorectal lymphoma'
+ 'colon lymphoma' SubClassOf 'colorectal lymphoma'
Class: http://purl.obolibrary.org/obo/MONDO_0002030
Label(s): chronic cervicitis
- 'chronic cervicitis' SubClassOf 'cervicitis'
+ 'chronic cervicitis' SubClassOf 'cervicitis'
Class: http://purl.obolibrary.org/obo/MONDO_0002017
Label(s): olivopontocerebellar atrophy
- 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia'
+ 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'cerebellar ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0002014
Label(s): autosomal recessive Ehlers-Danlos syndrome, vascular type
- 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal recessive disease'
+ 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal recessive disease'
Class: http://purl.obolibrary.org/obo/MONDO_0002013
Label(s): lymphangioma
- 'lymphangioma' SubClassOf 'benign epithelial neoplasm'
Class: http://purl.obolibrary.org/obo/MONDO_0019767
Label(s): hamel cerebro-palato-cardiac syndrome
- 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome'
+ 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0007690
Label(s): aromatase excess syndrome
- 'aromatase excess syndrome' SubClassOf 'reproductive system disease'
+ 'aromatase excess syndrome' SubClassOf 'reproductive system disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007686
Label(s): gray platelet syndrome
- 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type'
- 'gray platelet syndrome' SubClassOf 'alpha granule disease'
+ 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type'
+ 'gray platelet syndrome' SubClassOf 'alpha granule disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007671
Label(s): fibronectin glomerulopathy
- 'fibronectin glomerulopathy' SubClassOf 'glomerular disease'
+ 'fibronectin glomerulopathy' SubClassOf 'glomerular disease'
Class: http://purl.obolibrary.org/obo/MONDO_0014121
Label(s): autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy'
+ 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0007639
Label(s): fundus albipunctatus
+ 'fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055
Class: http://purl.obolibrary.org/obo/MONDO_0007636
Label(s): frontorhiny
- 'frontorhiny' SubClassOf 'frontonasal dysplasia'
+ 'frontorhiny' SubClassOf 'frontonasal dysplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0007635
Label(s): Frasier syndrome
- 'Frasier syndrome' SubClassOf 'syndromic disease'
+ 'Frasier syndrome' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007630
Label(s): North Carolina macular dystrophy
- 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal'
+ 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal'
Class: http://purl.obolibrary.org/obo/MONDO_0007617
Label(s): Coffin-Siris syndrome 1
- 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome'
+ 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0014159
Label(s): autosomal recessive spinocerebellar ataxia 14
- 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia'
+ 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0014180
Label(s): epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex'
+ 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex'
Class: http://www.ebi.ac.uk/efo/EFO_0000220
Label(s): acute lymphoblastic leukemia
- 'acute lymphoblastic leukemia' SubClassOf 'Acute Leukemia'
+ 'acute lymphoblastic leukemia' SubClassOf 'Acute Leukemia'
Class: http://purl.obolibrary.org/obo/MONDO_0012693
Label(s): glycogen storage disease due to muscle and heart glycogen synthase deficiency
- 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism'
+ 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism'
Class: http://purl.obolibrary.org/obo/MONDO_0001704
Label(s): vaginal glandular neoplasm
- 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm'
+ 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm'
Class: http://purl.obolibrary.org/obo/MONDO_0016120
Label(s): myotonic syndrome
- 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia'
- 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia')
+ 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia')
+ 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia'
Class: http://purl.obolibrary.org/obo/MONDO_0012683
Label(s): pontocerebellar hypoplasia type 6
- 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia'
+ 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0012679
Label(s): autosomal recessive osteopetrosis 6
- 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis'
+ 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis'
Class: http://purl.obolibrary.org/obo/MONDO_0012676
Label(s): autosomal recessive osteopetrosis 4
- 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis'
+ 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis'
Class: http://purl.obolibrary.org/obo/MONDO_0012675
Label(s): corticosteroid-binding globulin deficiency
- 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease'
+ 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease'
Class: http://purl.obolibrary.org/obo/MONDO_0009110
Label(s): dicarboxylic aminoaciduria
- 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport'
+ 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport'
Class: http://purl.obolibrary.org/obo/MONDO_0009111
Label(s): dihydropyrimidinuria
- 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism'
+ 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism'
Class: http://purl.obolibrary.org/obo/MONDO_0009112
Label(s): rhizomelic chondrodysplasia punctata type 2
- 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata'
+ 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata'
Class: http://purl.obolibrary.org/obo/MONDO_0009114
Label(s): congenital sucrase-isomaltase deficiency
- 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption'
+ 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption'
Class: http://purl.obolibrary.org/obo/MONDO_0009124
Label(s): Dubowitz syndrome
- 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome'
+ 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012658
Label(s): brachydactyly type B2
- 'brachydactyly type B2' SubClassOf 'brachydactyly type B'
+ 'brachydactyly type B2' SubClassOf 'brachydactyly type B'
Class: http://purl.obolibrary.org/obo/MONDO_0009134
Label(s): congenital dyserythropoietic anemia type 2
- 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia'
+ 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia'
Class: http://purl.obolibrary.org/obo/MONDO_0012648
Label(s): isobutyryl-CoA dehydrogenase deficiency
- 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
+ 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0012638
Label(s): microphthalmia-brain atrophy syndrome
- 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia'
+ 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia'
Class: http://purl.obolibrary.org/obo/MONDO_0012637
Label(s): COG1-congenital disorder of glycosylation
- 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II'
+ 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II'
Class: http://purl.obolibrary.org/obo/MONDO_0012635
Label(s): COG8-congenital disorder of glycosylation
- 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II'
+ 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II'
Class: http://purl.obolibrary.org/obo/MONDO_0030134
Label(s): oculopharyngodistal myopathy 2
- 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy'
+ 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0012608
Label(s): neuronopathy, distal hereditary motor, autosomal recessive 4
- 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive'
+ 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive'
Class: http://purl.obolibrary.org/obo/MONDO_0012601
Label(s): autism, susceptibility to, 10
- 'autism, susceptibility to, 10' SubClassOf 'autism, susceptiblity to'
+ 'autism, susceptibility to, 10' SubClassOf 'autism, susceptiblity to'
Class: http://purl.obolibrary.org/obo/MONDO_0012600
Label(s): autism, susceptibility to, 9
- 'autism, susceptibility to, 9' SubClassOf 'autism, susceptiblity to'
+ 'autism, susceptibility to, 9' SubClassOf 'autism, susceptiblity to'
Class: http://purl.obolibrary.org/obo/MONDO_0030105
Label(s): galactosemia 4
- 'galactosemia 4' SubClassOf 'galactosemia'
+ 'galactosemia 4' SubClassOf 'galactosemia'
Class: http://purl.obolibrary.org/obo/MONDO_0007586
Label(s): exostoses, multiple, type 2
- 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas'
+ 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas'
Class: http://purl.obolibrary.org/obo/MONDO_0009726
Label(s): proteosome-associated autoinflammatory syndrome
- 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood'
+ 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood'
Class: http://purl.obolibrary.org/obo/MONDO_0007573
Label(s): erythroleukemia, familial, susceptibility to
- 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia'
+ 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute erythroleukemia'
Class: http://purl.obolibrary.org/obo/MONDO_0007556
Label(s): epidermolysis bullosa simplex 2F, with mottled pigmentation
- 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex'
+ 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex'
Class: http://purl.obolibrary.org/obo/MONDO_0007555
Label(s): pidermolysis bullosa simplex 5A, Ogna type
- 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex'
+ 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex'
Class: http://purl.obolibrary.org/obo/MONDO_0007554
Label(s): epidermolysis bullosa simplex 1B, generalized intermediate
- 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex'
+ 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex'
Class: http://purl.obolibrary.org/obo/MONDO_0007552
Label(s): pretibial dystrophic epidermolysis bullosa
- 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica'
+ 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica'
Class: http://purl.obolibrary.org/obo/MONDO_0007551
Label(s): epidermolysis bullosa simplex 1C, localized
- 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex'
+ 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex'
Class: http://purl.obolibrary.org/obo/MONDO_0007550
Label(s): epidermolysis bullosa simplex 1A, generalized severe
- 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex'
+ 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex'
Class: http://purl.obolibrary.org/obo/MONDO_0007540
Label(s): multiple endocrine neoplasia type 1
- 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia'
+ 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0007538
Label(s): amelogenesis imperfecta, type 3A
- 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta'
+ 'amelogenesis imperfecta, type 3A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0968955
Class: http://purl.obolibrary.org/obo/MONDO_0007525
Label(s): Ehlers-Danlos syndrome, arthrochalasia type
- 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome'
+ 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0007524
Label(s): autosomal dominant Ehlers-Danlos syndrome, vascular type
- 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal dominant disease'
+ 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal dominant disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007510
Label(s): Clouston syndrome
- 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome'
+ 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0014268
Label(s): combined immunodeficiency due to OX40 deficiency
- 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency'
+ 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0014269
Label(s): combined oxidative phosphorylation deficiency 19
- 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0014271
Label(s): STT3B-congenital disorder of glycosylation
- 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I'
+ 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I'
Class: http://purl.obolibrary.org/obo/GO_0003867
Label(s): PXLP-K357-ABAT dimer:2Fe-2S transforms GABA to SUCCSA 4-aminobutyrate transaminase activity
- 'PXLP-K357-ABAT dimer:2Fe-2S transforms GABA to SUCCSA' SubClassOf 'catalytic activity'
+ 'PXLP-K357-ABAT dimer:2Fe-2S transforms GABA to SUCCSA' SubClassOf http://www.w3.org/2002/07/owl#Thing
Class: http://purl.obolibrary.org/obo/MONDO_0859257
Label(s): intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
- 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf 'genetic disorder'
+ 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971063
Class: http://purl.obolibrary.org/obo/MONDO_0013156
Label(s): muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
- 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B'
+ 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B'
Class: http://purl.obolibrary.org/obo/MONDO_0009795
Label(s): orofaciodigital syndrome IX
- 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome'
+ 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0002561
Label(s): lysosomal storage disease
- 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism'
+ 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism'
Class: http://purl.obolibrary.org/obo/MONDO_0012588
Label(s): neuronal ceroid lipofuscinosis 7
- 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis'
+ 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis'
Class: http://purl.obolibrary.org/obo/MONDO_0012585
Label(s): coronary heart disease, susceptibility to, 7
- 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease'
+ 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012584
Label(s): systemic lupus erythematosus, susceptibility to, 9
- 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus'
+ 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus'
Class: http://purl.obolibrary.org/obo/MONDO_0042487
Label(s): uterine cervix carcinoma in situ
- 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ'
+ 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ'
Class: http://purl.obolibrary.org/obo/MONDO_0012579
Label(s): autoimmune pulmonary alveolar proteinosis
- 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis'
+ 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis'
Class: http://purl.obolibrary.org/obo/MONDO_0012574
Label(s): Potocki-Lupski syndrome
- 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17'
+ 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17'
Class: http://purl.obolibrary.org/obo/MONDO_0012570
Label(s): body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)'
+ 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)'
Class: http://purl.obolibrary.org/obo/MONDO_0009216
Label(s): glycogen storage disease due to GLUT2 deficiency
- 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism'
+ 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism'
Class: http://purl.obolibrary.org/obo/MONDO_0009226
Label(s): fibrochondrogenesis 1
- 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis'
+ 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis'
Class: http://purl.obolibrary.org/obo/MONDO_0030072
Label(s): developmental and epileptic encephalopathy, 88
- 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy'
+ 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0000430
Label(s): mature T-cell and NK-cell non-Hodgkin lymphoma
- 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma'
+ 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma'
Class: http://purl.obolibrary.org/obo/MONDO_0012556
Label(s): DK1-congenital disorder of glycosylation
- 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I'
+ 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I'
Class: http://purl.obolibrary.org/obo/MONDO_0012553
Label(s): cerebrooculofacioskeletal syndrome 2
- 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome'
+ 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012552
Label(s): multiple endocrine neoplasia type 4
- 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia'
+ 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0030067
Label(s): Treacher Collins syndrome 4
- 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome'
+ 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0030066
Label(s): granulomatous disease, chronic, autosomal recessive, 5
- 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease'
+ 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease'
Class: http://www.ebi.ac.uk/efo/EFO_0005687
Label(s): fibromyalgia
- 'fibromyalgia' SubClassOf 'syndromic disease'
+ 'fibromyalgia' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0030062
Label(s): arrhythmogenic right ventricular dysplasia, familial, 14
- 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia'
+ 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0012549
Label(s): autosomal recessive ataxia, Beauce type
- 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia'
+ 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0012548
Label(s): Kostmann syndrome
- 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia'
+ 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia'
Class: http://purl.obolibrary.org/obo/MONDO_0012545
Label(s): neutral lipid storage myopathy
- 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease'
+ 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease'
Class: http://purl.obolibrary.org/obo/MONDO_0030059
Label(s): developmental and epileptic encephalopathy, 87
- 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy'
+ 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0030058
Label(s): hearing loss, autosomal dominant 77
- 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss'
+ 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss'
Class: http://purl.obolibrary.org/obo/MONDO_0030055
Label(s): neuronopathy, distal hereditary motor, autosomal recessive 8
- 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive'
+ 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive'
Class: http://purl.obolibrary.org/obo/MONDO_0030054
Label(s): developmental and epileptic encephalopathy, 86
- 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy'
+ 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0009249
Label(s): hereditary fructose intolerance
- 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism'
+ 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism'
Class: http://purl.obolibrary.org/obo/MONDO_0009262
Label(s): GM1 gangliosidosis type 3
- 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis'
+ 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis'
Class: http://purl.obolibrary.org/obo/MONDO_0030031
Label(s): lissencephaly 10
- 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders'
+ 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders'
Class: http://purl.obolibrary.org/obo/MONDO_0012510
Label(s): combined oxidative phosphorylation defect type 2
- 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0030027
Label(s): tremor, hereditary essential, 6
- 'tremor, hereditary essential, 6' SubClassOf 'essential tremor'
+ 'tremor, hereditary essential, 6' SubClassOf 'essential tremor'
Class: http://purl.obolibrary.org/obo/MONDO_0030020
Label(s): combined oxidative phosphorylation deficiency 44
- 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0012509
Label(s): pigmented nodular adrenocortical disease, primary, 1
- 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease'
+ 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease'
Class: http://purl.obolibrary.org/obo/MONDO_0030019
Label(s): anauxetic dysplasia 3
- 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia'
+ 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0030017
Label(s): combined oxidative phosphorylation deficiency 43
- 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0009291
Label(s): glycogen storage disease III
- 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism'
+ 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism'
Class: http://purl.obolibrary.org/obo/MONDO_0030008
Label(s): combined oxidative phosphorylation deficiency 42
- 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0030007
Label(s): combined oxidative phosphorylation deficiency 41
- 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0030006
Label(s): combined oxidative phosphorylation deficiency 40
- 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency'
+ 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0030004
Label(s): autism, susceptibility to, 20
- 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to'
+ 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to'
Class: http://purl.obolibrary.org/obo/MONDO_0019950
Label(s): congenital muscular dystrophy
- 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy'
+ 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0007495
Label(s): dystonia 5
- 'dystonia 5' SubClassOf 'inherited dystonia'
- 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa'
- 'dystonia 5' SubClassOf 'dopa-responsive dystonia'
+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'L-dopa'
+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971063
Class: http://purl.obolibrary.org/obo/MONDO_0024715
Label(s): benign synovial neoplasm
- 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm'
+ 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm'
Class: http://purl.obolibrary.org/obo/MONDO_0007478
Label(s): autosomal dominant Kenny-Caffey syndrome
- 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome'
- 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease'
+ 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome'
+ 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007477
Label(s): 3-M syndrome
- '3-M syndrome' SubClassOf 'syndromic disease'
+ '3-M syndrome' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007462
Label(s): multiple sclerosis, susceptibility to
- 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis'
- 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis')
+ 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis'
+ 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis')
Class: http://purl.obolibrary.org/obo/MONDO_0007451
Label(s): diabetes insipidus, nephrogenic, autosomal
- 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus'
+ 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus'
Class: http://purl.obolibrary.org/obo/MONDO_0007450
Label(s): neurohypophyseal diabetes insipidus
- 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease'
+ 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007445
Label(s): dermatopathia pigmentosa reticularis
- 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome'
+ 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0007442
Label(s): dentinogenesis imperfecta type 3
- 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta'
+ 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta'
Class: http://purl.obolibrary.org/obo/MONDO_0014339
Label(s): autosomal recessive spinocerebellar ataxia 16
- 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia'
+ 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0007420
Label(s): autosomal dominant deafness - onychodystrophy syndrome
- 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease'
+ 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007415
Label(s): mitochondrial complex III deficiency nuclear type 1
- 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex III deficiency, nuclear type'
+ 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex III deficiency, nuclear type'
Class: http://purl.obolibrary.org/obo/MONDO_0007410
Label(s): isolated cryptophthalmia
- 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia'
+ 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia'
Class: http://purl.obolibrary.org/obo/MONDO_0007404
Label(s): Cri-du-chat syndrome
- 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5'
- 'Cri-du-chat syndrome' SubClassOf 'syndromic disease'
+ 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5'
+ 'Cri-du-chat syndrome' SubClassOf 'syndromic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007401
Label(s): craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0030781
Label(s): restrictive dermopathy 2
- 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy'
+ 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0012495
Label(s): spondyloepimetaphyseal dysplasia, Genevieve type
- 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia'
+ 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia'
Class: http://purl.obolibrary.org/obo/MONDO_0012488
Label(s): hepatitis B virus, susceptibility to
- 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder'
+ 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0012482
Label(s): West Nile virus, susceptibility to
- 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis'
+ 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'West Nile encephalitis'
Class: http://purl.obolibrary.org/obo/MONDO_0009300
Label(s): Perrault syndrome 1
- 'Perrault syndrome 1' SubClassOf 'Perrault syndrome'
+ 'Perrault syndrome 1' SubClassOf 'Perrault syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012475
Label(s): cone dystrophy with supernormal rod response
- 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy'
+ 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0009312
Label(s): lipodystrophy due to peptidic growth factors deficiency
- 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy'
+ 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0012466
Label(s): Parkinson disease 13, autosomal dominant, susceptibility to
- 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease'
+ 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease'
Class: http://purl.obolibrary.org/obo/MONDO_0060555
Label(s): vertebral, cardiac, renal, and limb defects syndrome 2
- 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome'
+ 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012456
Label(s): congenital primary aphakia
- 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia'
- 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis'