89 28 3 http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_1399 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Richards-Rundle syndrome' SubClassOf 'Rare genetic movement disorder' 'Richards-Rundle syndrome' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_1368 Cataract - ataxia - deafness 'Cataract - ataxia - deafness' SubClassOf 'Rare genetic tremor disorder' 'Cataract - ataxia - deafness' SubClassOf 'Rare genetic movement disorder' 'Cataract - ataxia - deafness' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_1185 Spinocerebellar ataxia - dysmorphism 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'Genetic neurodegenerative disease' 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'Rare genetic tremor disorder' 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'Rare genetic movement disorder' http://www.orpha.net/ORDO/Orphanet_1186 Infantile onset spinocerebellar ataxia 'Infantile onset spinocerebellar ataxia' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_1180 Ataxia - hypogonadism - choroidal dystrophy 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Rare genetic movement disorder' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0033482 spinocerebellar ataxia 47 'spinocerebellar ataxia 47' SubClassOf 'cerebellar ataxia' 'spinocerebellar ataxia 47' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_238475 Familial hypercholanemia 'Familial hypercholanemia' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Familial hypercholanemia' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://www.ebi.ac.uk/efo/EFO_1000062 lactose intolerance 'lactose intolerance' SubClassOf 'Disorder of carbohydrate metabolism' 'lactose intolerance' SubClassOf 'nutritional disorder' 'lactose intolerance' SubClassOf 'Metabolic disease with intestinal involvement' 'lactose intolerance' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1000063 lactose intolerance adult type 'lactose intolerance adult type' SubClassOf 'lactose intolerance' 'lactose intolerance adult type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100345 'lactose intolerance adult type' SubClassOf 'lactose intolerance' http://www.orpha.net/ORDO/Orphanet_98979 Chandler syndrome 'Chandler syndrome' SubClassOf 'Syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0021191 malignant ependymoma 'malignant ependymoma' SubClassOf 'malignant glioma' 'malignant ependymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://www.ebi.ac.uk/efo/EFO_0000763 viral disease 'viral disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100321 http://www.orpha.net/ORDO/Orphanet_1172 Autosomal recessive cerebellar ataxia 'Autosomal recessive cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'cerebellar degeneration' 'Autosomal recessive cerebellar ataxia' SubClassOf 'eye degenerative disease' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'Autosomal recessive cerebellar ataxia' SubClassOf 'hereditary ataxia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100310 http://www.orpha.net/ORDO/Orphanet_1173 Cerebellar ataxia - hypogonadism 'Cerebellar ataxia - hypogonadism' SubClassOf 'hereditary ataxia' 'Cerebellar ataxia - hypogonadism' SubClassOf 'Rare genetic movement disorder' 'Cerebellar ataxia - hypogonadism' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_1178 Ataxia - tapetoretinal degeneration 'Ataxia - tapetoretinal degeneration' SubClassOf 'Rare genetic movement disorder' 'Ataxia - tapetoretinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Ataxia - tapetoretinal degeneration' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0018744 oligodendroglial tumor 'oligodendroglial tumor' SubClassOf 'malignant glioma' 'oligodendroglial tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with dementia' 'Abetalipoproteinemia' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Friedreich ataxia' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Friedreich ataxia' SubClassOf 'Neurometabolic disease' 'Friedreich ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Friedreich ataxia' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Friedreich ataxia' SubClassOf 'Neurometabolic disease' 'Friedreich ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia 'Autosomal dominant cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'Autosomal dominant cerebellar ataxia' SubClassOf 'hereditary ataxia' 'Autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100310 http://www.orpha.net/ORDO/Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_1766 Dysequilibrium syndrome 'Dysequilibrium syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021640 grade III glioma 'grade III glioma' SubClassOf 'malignant glioma' 'grade III glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder 'post-viral disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100321 http://www.ebi.ac.uk/efo/EFO_0007858 eye morphology measurement 'eye morphology measurement' SubClassOf 'eye measurement' 'eye morphology measurement' SubClassOf 'is_about' some 'eye' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Rare genetic movement disorder' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Rare genetic tremor disorder' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'cerebellar degeneration' http://www.orpha.net/ORDO/Orphanet_391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has modifier' some 'rare' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'diabetes mellitus' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0016680 high grade astrocytic tumor 'high grade astrocytic tumor' SubClassOf 'malignant glioma' 'high grade astrocytic tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://purl.obolibrary.org/obo/MONDO_0016701 oligoastrocytic tumor 'oligoastrocytic tumor' SubClassOf 'malignant glioma' 'oligoastrocytic tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://purl.obolibrary.org/obo/MONDO_0016593 acquired ataxia 'acquired ataxia' SubClassOf 'cerebellar ataxia' 'acquired ataxia' EquivalentTo 'cerebellar ataxia' and ('has modifier' some 'acquired') 'acquired ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100308 'acquired ataxia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0100308 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0100242 glioma susceptibility 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0100342) 'glioma susceptibility' SubClassOf 'predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0100342 http://purl.obolibrary.org/obo/MONDO_0100139 asymptomatic COVID-19 infection 'asymptomatic COVID-19 infection' SubClassOf 'COVID-19' 'asymptomatic COVID-19 infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100140 mild COVID-19 infection 'mild COVID-19 infection' SubClassOf 'COVID-19' 'mild COVID-19 infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100141 moderate COVID-19 infection 'moderate COVID-19 infection' SubClassOf 'COVID-19' 'moderate COVID-19 infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100142 severe COVID-19 infection 'severe COVID-19 infection' SubClassOf 'COVID-19' 'severe COVID-19 infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100143 critical COVID-19 infection 'critical COVID-19 infection' SubClassOf 'COVID-19' 'critical COVID-19 infection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100096 COVID-19 'COVID-19' SubClassOf 'Orthocoronavirinae infectious disease' 'COVID-19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100318 'COVID-19' SubClassOf 'Orthocoronavirinae infectious disease' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'cerebellar ataxia' 'hereditary ataxia' SubClassOf 'neurodegenerative disease' 'hereditary ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100308 'hereditary ataxia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0100308 and ('has modifier' some 'inherited') 'hereditary ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_73271 Bleeding diathesis due to a collagen receptor defect 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'disease of signal transduction' 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'disease of receptor activity' http://www.ebi.ac.uk/efo/EFO_0009899 10x 3' v2 sequencing '10x 3' v2 sequencing' SubClassOf '10x v2 sequencing' '10x 3' v2 sequencing' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030003 http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'eyelid degenerative disease' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'syndromic disease' 'cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100308 http://www.ebi.ac.uk/efo/EFO_0009764 eye colour measurement 'eye colour measurement' SubClassOf 'is_about' some 'eye' http://www.orpha.net/ORDO/Orphanet_3177 Corneal-cerebellar syndrome 'Corneal-cerebellar syndrome' SubClassOf 'cerebellar degeneration' 'Corneal-cerebellar syndrome' SubClassOf 'hereditary ataxia' 'Corneal-cerebellar syndrome' SubClassOf 'Rare genetic tremor disorder' 'Corneal-cerebellar syndrome' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0010713 10x immune profiling '10x immune profiling' SubClassOf '10x 5' v2 sequencing' '10x immune profiling' SubClassOf '10x sequencing' http://www.ebi.ac.uk/efo/EFO_0010961 Visium Spatial Gene Expression 'Visium Spatial Gene Expression' SubClassOf 'spatial transcriptomics' 'Visium Spatial Gene Expression' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030005 http://www.ebi.ac.uk/efo/EFO_0009900 10x 5' v2 sequencing '10x 5' v2 sequencing' SubClassOf '10x v2 sequencing' '10x 5' v2 sequencing' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030004 http://www.ebi.ac.uk/efo/EFO_0009901 10x 3' v1 sequencing '10x 3' v1 sequencing' SubClassOf '10x v1 sequencing' '10x 3' v1 sequencing' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030003 http://www.ebi.ac.uk/efo/EFO_0009922 10x 3' v3 sequencing '10x 3' v3 sequencing' SubClassOf '10x v3 sequencing' '10x 3' v3 sequencing' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030003 http://www.ebi.ac.uk/efo/EFO_0010901 anti-herpes simplex virus 6 antibody measurement 'anti-herpes simplex virus 6 antibody measurement' SubClassOf 'antibody measurement' 'anti-herpes simplex virus 6 antibody measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010902 anti-herpes simplex virus 7 antibody measurement 'anti-herpes simplex virus 7 antibody measurement' SubClassOf 'antibody measurement' 'anti-herpes simplex virus 7 antibody measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002542 spinal cord glioma 'spinal cord glioma' SubClassOf 'malignant glioma' 'spinal cord glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://www.ebi.ac.uk/efo/EFO_0011025 10x 5' v1 sequencing '10x 5' v1 sequencing' SubClassOf '10x v1 sequencing' '10x 5' v1 sequencing' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030004 http://www.orpha.net/ORDO/Orphanet_2604 Familial visceral myopathy 'Familial visceral myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020754 http://www.orpha.net/ORDO/Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Rare genetic tremor disorder' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'cerebellar degeneration' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Rare genetic movement disorder' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2589 Myoclonus - cerebellar ataxia - deafness 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Genetic neurodegenerative disease' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Rare genetic movement disorder' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_166272 Goldblatt syndrome 'Goldblatt syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Goldblatt syndrome' SubClassOf 'Spondylometaphyseal dysplasia' 'Goldblatt syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Goldblatt syndrome' SubClassOf 'Spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0000941 eyelid degenerative disease 'eyelid degenerative disease' SubClassOf 'eyelid disease' 'eyelid degenerative disease' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/MONDO_0000820 cerebral cavernous malformation 'cerebral cavernous malformation' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Rare genetic tremor disorder' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Rare genetic movement disorder' http://purl.obolibrary.org/obo/MONDO_0005499 brain glioma 'brain glioma' SubClassOf 'malignant glioma' 'brain glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100342 http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_93604 Antenatal Bartter syndrome 'Antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' 'Antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' http://www.orpha.net/ORDO/Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Rare syndromic dyslipidemia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_475 Joubert syndrome 'Joubert syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Rare genetic movement disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Genetic neurodegenerative disease' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'eyelid degenerative disease' http://www.orpha.net/ORDO/Orphanet_93256 Fragile X-associated tremor/ataxia syndrome 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_849 Glanzmann thrombasthenia 'Glanzmann thrombasthenia' SubClassOf 'Rare genetic coagulation disorder' 'Glanzmann thrombasthenia' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 'Glanzmann thrombasthenia' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Metabolic disease with dementia' 'Refsum disease' SubClassOf 'cerebellar degeneration' 'Refsum disease' SubClassOf 'eye degenerative disease' http://www.orpha.net/ORDO/Orphanet_772 Infantile Refsum disease 'Infantile Refsum disease' SubClassOf 'Metabolic disease with dementia' 'Infantile Refsum disease' SubClassOf 'cerebellar degeneration' 'Infantile Refsum disease' SubClassOf 'eye degenerative disease' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'eye degenerative disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'cerebellar degeneration' http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia 'Autosomal recessive spastic ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive spastic ataxia' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_316226 Spastic ataxia 'Spastic ataxia' SubClassOf 'Rare genetic tremor disorder' 'Spastic ataxia' SubClassOf 'Rare genetic movement disorder' 'Spastic ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_316235 Autosomal dominant spastic ataxia 'Autosomal dominant spastic ataxia' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant spastic ataxia' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_211062 Hereditary episodic ataxia 'Hereditary episodic ataxia' SubClassOf 'Rare genetic movement disorder' 'Hereditary episodic ataxia' SubClassOf 'Genetic neurodegenerative disease' 'Hereditary episodic ataxia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_139485 Autosomal recessive ataxia due to ubiquinone deficiency 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_64734 Iridocorneal endothelial syndrome 'Iridocorneal endothelial syndrome' SubClassOf 'syndromic disease' 'Iridocorneal endothelial syndrome' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'diabetes mellitus' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Metabolic disease with dementia' http://purl.obolibrary.org/obo/MONDO_0015917 malignant glioma 'malignant glioma' SubClassOf 'high grade malignant neoplasm' 'malignant glioma' SubClassOf 'glioma' 'malignant glioma' SubClassOf 'has modifier' some 'rare' 'malignant glioma' SubClassOf 'central nervous system cancer' http://www.orpha.net/ORDO/Orphanet_247765 X-linked cerebellar ataxia 'X-linked cerebellar ataxia' SubClassOf 'hereditary ataxia' 'X-linked cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'X-linked cerebellar ataxia' SubClassOf 'Genetic neurodegenerative disease' 'X-linked cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'X-linked cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100310 http://www.orpha.net/ORDO/Orphanet_221061 Hereditary cerebral cavernous malformation 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic neurovascular malformation' 'Hereditary cerebral cavernous malformation' SubClassOf 'simple vascular malformation' 'Hereditary cerebral cavernous malformation' SubClassOf 'cerebral cavernous malformation' 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic vascular anomaly' 'Hereditary cerebral cavernous malformation' EquivalentTo 'cerebral cavernous malformation' and ('has modifier' some 'inherited') 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic neurovascular malformation' http://purl.obolibrary.org/obo/MONDO_0100342 malignant glioma 'malignant glioma' SubClassOf 'high grade malignant neoplasm' 'malignant glioma' SubClassOf 'has modifier' some 'rare' 'malignant glioma' SubClassOf 'glioma' 'malignant glioma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0100345 lactose intolerance (disease) 'lactose intolerance (disease)' SubClassOf 'nutritional disorder' 'lactose intolerance (disease)' SubClassOf 'Metabolic disease with intestinal involvement' 'lactose intolerance (disease)' SubClassOf 'malabsorption syndrome' 'lactose intolerance (disease)' SubClassOf 'Disorder of carbohydrate metabolism' http://purl.obolibrary.org/obo/MONDO_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'hereditary cerebellar ataxia' SubClassOf 'cerebellar ataxia' 'hereditary cerebellar ataxia' EquivalentTo 'cerebellar ataxia' and ('has modifier' some 'inherited') 'hereditary cerebellar ataxia' SubClassOf 'hereditary ataxia' 'hereditary cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0100318 COVID-19 or sequela 'COVID-19 or sequela' EquivalentTo 'COVID-19' or 'sequela of COVID-19' 'COVID-19 or sequela' SubClassOf 'viral disease or post-viral disorder' http://purl.obolibrary.org/obo/MONDO_0100320 sequela of COVID-19 'sequela of COVID-19' SubClassOf 'post-viral disorder' 'sequela of COVID-19' EquivalentTo 'disease' and ('disease arises from feature' some 'COVID-19') 'sequela of COVID-19' SubClassOf 'COVID-19 or sequela' 'sequela of COVID-19' SubClassOf 'disease arises from feature' some 'COVID-19' http://purl.obolibrary.org/obo/MONDO_0100321 viral disease or post-viral disorder 'viral disease or post-viral disorder' SubClassOf 'disease' 'viral disease or post-viral disorder' EquivalentTo 'post-viral disorder' or 'viral disease' http://purl.obolibrary.org/obo/MONDO_0100308 atactic disorder 'atactic disorder' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0030002 microwell-seq 'microwell-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030003 10x 3' transcription profiling '10x 3' transcription profiling' SubClassOf '10x technology' http://www.ebi.ac.uk/efo/EFO_0030000 STARmap 'STARmap' SubClassOf 'RNA assay' 'STARmap' SubClassOf 'microscopy assay' 'STARmap' SubClassOf 'in-situ hybridization assay' http://www.ebi.ac.uk/efo/EFO_0030001 sci-CAR 'sci-CAR' SubClassOf 'has_part' some 'scATAC-seq (cell index)' 'sci-CAR' SubClassOf 'has_part' some 'sci-RNA-seq' 'sci-CAR' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030004 10x 5' transcription profiling '10x 5' transcription profiling' SubClassOf '10x technology' http://www.ebi.ac.uk/efo/EFO_0030005 spatial transcriptomics by high-throughput sequencing 'spatial transcriptomics by high-throughput sequencing' SubClassOf 'assay by high throughput sequencer' 'spatial transcriptomics by high-throughput sequencing' SubClassOf 'spatial transcriptomics' http://www.ebi.ac.uk/efo/EFO_0011024 response to liver transplant 'response to liver transplant' SubClassOf 'response to transplant' http://www.ebi.ac.uk/efo/EFO_0011045 fetal weight 'fetal weight' SubClassOf 'body weight' http://www.ebi.ac.uk/efo/EFO_0011044 BMI-adjusted neck circumference 'BMI-adjusted neck circumference' SubClassOf 'neck circumference' 'BMI-adjusted neck circumference' SubClassOf 'is_about' some 'neck' http://www.ebi.ac.uk/efo/EFO_0011043 neck circumference 'neck circumference' SubClassOf 'is_about' some 'neck' 'neck circumference' SubClassOf 'body weights and measures' http://www.ebi.ac.uk/efo/EFO_0011041 response to BCG intravesical immunotherapy 'response to BCG intravesical immunotherapy' SubClassOf 'is_about' some 'bladder transitional cell carcinoma' 'response to BCG intravesical immunotherapy' SubClassOf 'response to antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0011039 myeloperoxidase (MPO)-DNA complex measurement 'myeloperoxidase (MPO)-DNA complex measurement' SubClassOf 'hematological measurement' 'myeloperoxidase (MPO)-DNA complex measurement' SubClassOf 'is_about' some 'neutrophil' 'myeloperoxidase (MPO)-DNA complex measurement' SubClassOf 'is_about' some 'enzyme' 'myeloperoxidase (MPO)-DNA complex measurement' SubClassOf 'protein measurement' 'myeloperoxidase (MPO)-DNA complex measurement' SubClassOf 'is_about' some 'protein' 'myeloperoxidase (MPO)-DNA complex measurement' SubClassOf 'is_about' some 'DNA' http://www.ebi.ac.uk/efo/EFO_0011038 anti-human herpes virus 7 antibody measurement 'anti-human herpes virus 7 antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0011037 anti-human herpes virus 6 antibody measurement 'anti-human herpes virus 6 antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0011036 matrix metalloproteinase–degraded type I collagen measurement 'matrix metalloproteinase–degraded type I collagen measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0011035 TP segment duration 'TP segment duration' SubClassOf 'electrocardiography' http://www.ebi.ac.uk/efo/EFO_0011034 T wave duration 'T wave duration' SubClassOf 'electrocardiography' http://www.ebi.ac.uk/efo/EFO_0011033 ST segment duration 'ST segment duration' SubClassOf 'electrocardiography' http://www.ebi.ac.uk/efo/EFO_0011032 fractional excretion of lactulose to mannitol ratio 'fractional excretion of lactulose to mannitol ratio' SubClassOf 'intestinal permeability measurement' http://www.ebi.ac.uk/efo/EFO_0011031 intestinal permeability measurement 'intestinal permeability measurement' SubClassOf 'is_about' some 'intestinal disease' 'intestinal permeability measurement' SubClassOf 'measurement' http://purl.obolibrary.org/obo/MONDO_0020754 visceral myopathy 'visceral myopathy' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0000941 eyelid degenerative disease 'eyelid degenerative disease' SubClassOf 'eyelid disease' 'eyelid degenerative disease' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/MONDO_0000820 cerebral cavernous malformation 'cerebral cavernous malformation' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015917 malignant glioma 'malignant glioma' SubClassOf 'high grade malignant neoplasm' 'malignant glioma' SubClassOf 'glioma' 'malignant glioma' SubClassOf 'has modifier' some 'rare' 'malignant glioma' SubClassOf 'central nervous system cancer'