195 65 5 http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'congenital nervous system disorder' 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_35878 Hyperinsulinism-hyperammonemia syndrome 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'urea cycle disorder' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.orpha.net/ORDO/Orphanet_371195 Congenital disorder of glycosylation-related bone disorder 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'bone disease' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_33067 Metaphyseal chondrodysplasia, Jansen type 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Pyle 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 'congenital nervous system disorder' 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://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'dermatitis' 'atopic eczema' SubClassOf 'inflammatory skin disease' 'atopic eczema' SubClassOf 'dermatitis' 'atopic eczema' SubClassOf 'inflammatory skin disease' http://www.orpha.net/ORDO/Orphanet_1216 Autosomal dominant congenital benign spinal muscular atrophy 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'inflammatory skin disease' 'psoriasis' SubClassOf 'inflammatory disease' 'psoriasis' SubClassOf 'dermatitis' 'psoriasis' SubClassOf 'inflammatory skin disease' http://www.orpha.net/ORDO/Orphanet_1422 Chondrodysplasia - disorder of sex development 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_1454 Joubert syndrome with hepatic defect 'Joubert syndrome with hepatic defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'disease has feature' some 'cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_98942 Coloboma of choroid and retina 'Coloboma of choroid and retina' SubClassOf 'Ocular coloboma' http://www.orpha.net/ORDO/Orphanet_98944 Coloboma of iris 'Coloboma of iris' SubClassOf 'Ocular coloboma' http://www.orpha.net/ORDO/Orphanet_98943 Coloboma of eye lens 'Coloboma of eye lens' SubClassOf 'Ocular coloboma' 'Coloboma of eye lens' SubClassOf 'coloboma' 'Coloboma of eye lens' SubClassOf 'Ocular coloboma' http://www.orpha.net/ORDO/Orphanet_98946 Coloboma of eyelid 'Coloboma of eyelid' SubClassOf 'Ocular coloboma' 'Coloboma of eyelid' SubClassOf 'Ocular coloboma' 'Coloboma of eyelid' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98945 Coloboma of macula 'Coloboma of macula' SubClassOf 'Ocular coloboma' 'Coloboma of macula' SubClassOf 'congenital nervous system disorder' 'Coloboma of macula' SubClassOf 'Ocular coloboma' 'Coloboma of macula' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98947 Coloboma of optic papilla 'Coloboma of optic papilla' SubClassOf 'Ocular coloboma' 'Coloboma of optic papilla' SubClassOf 'coloboma' 'Coloboma of optic papilla' SubClassOf 'Ocular coloboma' http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/MONDO_0060724 glycosylphosphatidylinositol biosynthesis defect 17 'glycosylphosphatidylinositol biosynthesis defect 17' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_251510 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY partial gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_1147 Sheldon-Hall syndrome 'Sheldon-Hall syndrome' SubClassOf 'Distal arthrogryposis' 'Sheldon-Hall syndrome' SubClassOf 'Distal arthrogryposis' 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 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_1173 Cerebellar ataxia - hypogonadism 'Cerebellar ataxia - hypogonadism' SubClassOf 'Genetic neurodegenerative disease' '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://www.ebi.ac.uk/efo/EFO_0009360 eyelid sagging measurement 'eyelid sagging measurement' SubClassOf 'facial morphology measurement' 'eyelid sagging measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010949 http://www.orpha.net/ORDO/Orphanet_1020 Early-onset autosomal dominant Alzheimer disease 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimer's disease' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'familial Alzheimer disease' http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'congenital anemia' 'Abetalipoproteinemia' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_23 Argininosuccinic aciduria 'Argininosuccinic aciduria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Argininosuccinic aciduria' SubClassOf 'urea cycle disorder' 'Argininosuccinic aciduria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_90 Argininemia 'Argininemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Argininemia' SubClassOf 'urea cycle disorder' 'Argininemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 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' 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 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_289465 Isolated adermatoglyphia 'Isolated adermatoglyphia' SubClassOf 'autosomal dominant disease' 'Isolated adermatoglyphia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Progressive myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_1000636 inflammatory skin disease 'inflammatory skin disease' SubClassOf 'skin disease' 'inflammatory skin disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'pediatric acute respiratory distress syndrome' 'newborn respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://www.orpha.net/ORDO/Orphanet_1770 Gonadal dysgenesis, XY type - associated anomalies 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1642 Distal monosomy 9p 'Distal monosomy 9p' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Distal monosomy 9p' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_79173 Disorder of methionine cycle and sulfur amino acid metabolism 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_79167 Disorder of urea cycle metabolism and ammonia detoxification 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'urea cycle disorder' 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79197 Disorder of branched-chain amino acid metabolism 'Disorder of branched-chain amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of branched-chain amino acid metabolism' SubClassOf 'Organic aciduria' http://www.ebi.ac.uk/efo/EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'salivary gland squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0007845 lip morphology measurement 'lip morphology measurement' SubClassOf 'facial morphology measurement' 'lip morphology measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010948 http://www.ebi.ac.uk/efo/EFO_0007844 forehead morphology measurement 'forehead morphology measurement' SubClassOf 'facial morphology measurement' 'forehead morphology measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010949 http://www.ebi.ac.uk/efo/EFO_0007842 chin morphology measurement 'chin morphology measurement' SubClassOf 'facial morphology measurement' 'chin morphology measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010948 http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis 'dermatitis' SubClassOf 'skin disease' 'dermatitis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0007858 eye morphology measurement 'eye morphology measurement' SubClassOf 'facial morphology measurement' 'eye morphology measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010949 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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002241 factor XIII deficiency 'factor XIII deficiency' SubClassOf 'metabolic disease' 'factor XIII deficiency' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0007955 mouth morphology measurement 'mouth morphology measurement' SubClassOf 'facial morphology measurement' 'mouth morphology measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010948 http://www.orpha.net/ORDO/Orphanet_90776 46,XX disorder of sex development induced by fetal androgens excess '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_90786 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_90787 46,XY disorder of sex development due to testicular steroidogenesis defect '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria (disease) 'homocystinuria (disease)' SubClassOf 'inherited amino acid metabolic disorder' http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_220497 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_220493 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'urea cycle disorder' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://purl.obolibrary.org/obo/MONDO_0100131 pediatric acute respiratory distress syndrome 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'granulomatous autoinflammatory syndrome' 'Blau syndrome' SubClassOf 'pulmonary sarcoidosis' http://www.orpha.net/ORDO/Orphanet_3097 Meacham syndrome 'Meacham syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Meacham syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_85282 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85112 Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/MONDO_0024387 benign ovarian sex cord-stromal tumor 'benign ovarian sex cord-stromal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024988 http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'has modifier' some 'rare' 'cerebellar ataxia' SubClassOf 'syndromic disease' 'cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'cerebellar ataxia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0007170 bird fancier's lung 'bird fancier's lung' SubClassOf 'has modifier' some 'rare' 'bird fancier's lung' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020537 http://www.orpha.net/ORDO/Orphanet_3177 Corneal-cerebellar syndrome 'Corneal-cerebellar syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Corneal-cerebellar syndrome' SubClassOf 'Rare genetic tremor disorder' 'Corneal-cerebellar syndrome' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0007193 carbamoyl phosphate synthetase I deficiency disease 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of fukutin' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of FKRP' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Myopathy with eye involvement' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital vitreoretinal dysplasia' http://www.ebi.ac.uk/efo/EFO_0007409 ornithine carbamoyltransferase deficiency 'ornithine carbamoyltransferase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'ornithine carbamoyltransferase deficiency' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_199310 Tetragametic chimerism 'Tetragametic chimerism' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Tetragametic chimerism' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/MONDO_0000138 metaphyseal chondrodysplasia (disease) 'metaphyseal chondrodysplasia (disease)' SubClassOf 'Pyle disease' http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_199642 Isolated congenital microcephaly 'Isolated congenital microcephaly' SubClassOf 'microcephaly (disease)' 'Isolated congenital microcephaly' SubClassOf 'microcephaly (disease)' http://purl.obolibrary.org/obo/MONDO_0019116 catecholamine-producing tumor 'catecholamine-producing tumor' SubClassOf 'genetic vascular tumor' 'catecholamine-producing tumor' SubClassOf 'Genetic hypertension' 'catecholamine-producing tumor' SubClassOf 'blood vessel neoplasm' 'catecholamine-producing tumor' SubClassOf 'adrenal/paraganglial tumor' 'catecholamine-producing tumor' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_166038 Metaphyseal chondrodysplasia, Kaitila type 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'metaphyseal chondrodysplasia (disease)' 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 '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_2512 Autosomal recessive primary microcephaly 'Autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2501 Metaphyseal chondrodysplasia, Spahr type 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'metaphyseal chondrodysplasia (disease)' http://www.orpha.net/ORDO/Orphanet_2802 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2823 Paraplegia - brachydactyly - cone-shaped epiphysis 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'Syndrome with brachydactyly' 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/MONDO_0009652 mucolipidosis type III gamma 'mucolipidosis type III gamma' SubClassOf 'Mucolipidosis type III' 'mucolipidosis type III gamma' SubClassOf 'Mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0020039 46,XX disorder of sex development induced by androgens excess '46,XX disorder of sex development induced by androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_2855 Perrault syndrome 'Perrault syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Perrault syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_2754 Joubert syndrome with orofaciodigital defect 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_2065 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'autosomal recessive disease' 'Galloway-Mowat syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2138 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XX ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_187 Citrullinemia 'Citrullinemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Citrullinemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Citrullinemia' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_194 Ocular coloboma 'Ocular coloboma' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Ocular coloboma' SubClassOf 'coloboma' 'Ocular coloboma' SubClassOf 'Rare eye disease due to a differentiation anomaly' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Ataxia-telangiectasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation 'Congenital disorder of glycosylation' SubClassOf 'Disorder of carbohydrate metabolism' 'Congenital disorder of glycosylation' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_140 Campomelic dysplasia 'Campomelic dysplasia' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Campomelic dysplasia' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_174 Metaphyseal chondrodysplasia, Schmid type 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'metaphyseal chondrodysplasia (disease)' http://purl.obolibrary.org/obo/MONDO_0012825 extraskeletal myxoid chondrosarcoma 'extraskeletal myxoid chondrosarcoma' SubClassOf 'extraosseous chondrosarcoma' http://www.orpha.net/ORDO/Orphanet_212 Cystathioninuria 'Cystathioninuria' SubClassOf 'inherited amino acid metabolic 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://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/MONDO_0000712 FTDALS 'FTDALS' SubClassOf 'Frontotemporal dementia with motor neuron disease' 'FTDALS' SubClassOf 'familial amyotrophic lateral sclerosis' 'FTDALS' EquivalentTo 'amyotrophic lateral sclerosis' and 'Frontotemporal dementia with motor neuron disease' http://www.orpha.net/ORDO/Orphanet_2318 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_364803 Rare bone disease related to a common gene or pathway defect 'Rare bone disease related to a common gene or pathway defect' SubClassOf 'bone disease' 'Rare bone disease related to a common gene or pathway defect' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_364820 TRPV4-related bone disorder 'TRPV4-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'TRPV4-related bone disorder' SubClassOf 'bone disease' 'TRPV4-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_364817 Aggrecan-related bone disorder 'Aggrecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Aggrecan-related bone disorder' SubClassOf 'bone disease' 'Aggrecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_347 Frasier syndrome 'Frasier syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Frasier syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_412 Hyperlipoproteinemia type 3 'Hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' 'Hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_220 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Denys-Drash syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_243 46,XX gonadal dysgenesis '46,XX gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XX gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_242 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY complete gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_258 Congenital muscular dystrophy type 1A 'Congenital muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of merosin' 'Congenital muscular dystrophy type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100228 http://www.orpha.net/ORDO/Orphanet_254 Spondylometaphyseal dysplasia 'Spondylometaphyseal dysplasia' SubClassOf 'Pyle disease' 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_325345 46,XY ovotesticular disorder of sex development '46,XY ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_272 Congenital muscular dystrophy, Fukuyama type 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Walker-Warburg syndrome' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_29072 Hereditary pheochromocytoma-paraganglioma 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'catecholamine-producing tumor' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland disease' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'Genetic hypertension' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'kidney neoplasm' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_325061 46,XX disorder of sex development induced by fetoplacental androgens excess '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Developmental anomaly of metabolic origin' 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 'congenital nervous system 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://purl.obolibrary.org/obo/MONDO_0032751 arthrogryposis, distal, type 2b3 'arthrogryposis, distal, type 2b3' SubClassOf 'Distal arthrogryposis' 'arthrogryposis, distal, type 2b3' SubClassOf 'genetic disorder' 'arthrogryposis, distal, type 2b3' SubClassOf 'autosomal dominant disease' 'arthrogryposis, distal, type 2b3' SubClassOf 'Sheldon-Hall syndrome' http://purl.obolibrary.org/obo/MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'Qualitative or quantitative defects of merosin' 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100228 http://purl.obolibrary.org/obo/MONDO_0029140 glycosylphosphatidylinositol biosynthesis defect 18 'glycosylphosphatidylinositol biosynthesis defect 18' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_325665 Genetic disorder of sex development of gynecological interest 'Genetic disorder of sex development of gynecological interest' SubClassOf 'rare gynecologic or obstetric disease' http://www.orpha.net/ORDO/Orphanet_325632 46,XY disorder of sex development of gynecological interest '46,XY disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XY disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_325638 Syndrome with disorder of sex development of gynecological interest 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Turner syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_899 Walker-Warburg syndrome 'Walker-Warburg syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Walker-Warburg syndrome' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Walker-Warburg syndrome' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Walker-Warburg syndrome' SubClassOf 'Myopathy with eye involvement' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Walker-Warburg syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Walker-Warburg syndrome' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Walker-Warburg syndrome' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'WAGR syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'eye neoplasm' 'Von Hippel-Lindau disease' SubClassOf 'catecholamine-producing tumor' 'Von Hippel-Lindau disease' SubClassOf 'nervous system neoplasm' 'Von Hippel-Lindau disease' SubClassOf 'head and neck neoplasia' 'Von Hippel-Lindau disease' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0003894 acne 'acne' SubClassOf 'inflammatory skin disease' 'acne' SubClassOf 'dermatitis' 'acne' SubClassOf 'inflammatory skin disease' 'acne' SubClassOf 'dermatitis' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of gynecological interest' 'Androgen insensitivity syndrome' SubClassOf 'female infertility' 'Androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'female infertility' http://www.orpha.net/ORDO/Orphanet_746 Mitochondrial trifunctional protein deficiency 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'congenital nervous system disorder' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Disorder of lipid metabolism' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Disorder of mitochondrial fatty acid oxidation' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Refsum disease' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_772 Infantile Refsum disease 'Infantile Refsum disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2975 46,XX disorder of sex development - skeletal anomalies '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_2983 Disorder of sex development - intellectual disability 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_93474 Scheie syndrome 'Scheie syndrome' DisjointWith 'Hurler-Scheie syndrome' http://www.orpha.net/ORDO/Orphanet_93473 Hurler syndrome 'Hurler syndrome' DisjointWith 'Hurler-Scheie syndrome' http://www.orpha.net/ORDO/Orphanet_93476 Hurler-Scheie syndrome 'Hurler syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Scheie syndrome' DisjointWith 'Hurler-Scheie syndrome' http://www.orpha.net/ORDO/Orphanet_93420 FGFR3-related chondrodysplasia 'FGFR3-related chondrodysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'FGFR3-related chondrodysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'FGFR3-related chondrodysplasia' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_93425 Filamin-related bone disorder 'Filamin-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Filamin-related bone disorder' SubClassOf 'bone disease' 'Filamin-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93424 Perlecan-related bone disorder 'Perlecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Perlecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Perlecan-related bone disorder' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_93423 Sulfation-related bone disorder 'Sulfation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Sulfation-related bone disorder' SubClassOf 'bone disease' 'Sulfation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93422 Type 11 collagen-related bone disorder 'Type 11 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Type 11 collagen-related bone disorder' SubClassOf 'bone disease' 'Type 11 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93421 Type 2 collagen-related bone disorder 'Type 2 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Type 2 collagen-related bone disorder' SubClassOf 'bone disease' 'Type 2 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.ebi.ac.uk/efo/EFO_1001763 basal cell neoplasm 'basal cell neoplasm' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_168563 46,XY gonadal dysgenesis - motor and sensory neuropathy '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_93359 Spondyloepimetaphyseal dysplasia with joint laxity 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93360 Spondyloepimetaphyseal dysplasia with multiple dislocations 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007350 coloboma, ocular, autosomal dominant 'coloboma, ocular, autosomal dominant' SubClassOf 'Ocular coloboma' 'coloboma, ocular, autosomal dominant' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0044304 hyperphenylalaninemia due to DNAJC12 deficiency 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'Phenylketonuria' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'autosomal recessive disease' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_991 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'PAGOD syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'Developmental anomaly of metabolic origin' 'Xeroderma pigmentosum' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_927 Hyperammonemia due to N-acetylglutamate synthetase deficiency 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_939 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'Disorder of branched-chain amino acid metabolism' '3-hydroxyisobutyric aciduria' SubClassOf 'inherited amino acid metabolic disorder' http://www.orpha.net/ORDO/Orphanet_959 Acro-renal-ocular syndrome 'Acro-renal-ocular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-ocular syndrome' SubClassOf 'Okihiro syndrome' 'Acro-renal-ocular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'acroosteolysis' 'Acroosteolysis dominant type' SubClassOf 'acroosteolysis' http://www.orpha.net/ORDO/Orphanet_137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'Congenital disorder of glycosylation' http://www.ebi.ac.uk/efo/EFO_0004193 basal cell carcinoma 'basal cell carcinoma' SubClassOf 'skin carcinoma' 'basal cell carcinoma' SubClassOf 'keratinocyte carcinoma' 'basal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020802 'basal cell carcinoma' SubClassOf 'basal cell carcinoma' 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' 'basal cell carcinoma' SubClassOf 'carcinoma' 'basal cell carcinoma' SubClassOf 'skin squamous cell carcinoma' 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://purl.obolibrary.org/obo/MONDO_0003125 testicular sex cord-stromal neoplasm 'testicular sex cord-stromal neoplasm' SubClassOf 'tumor of testis and paratestis' http://purl.obolibrary.org/obo/MONDO_0003044 extraosseous chondrosarcoma 'extraosseous chondrosarcoma' SubClassOf 'chondrosarcoma' http://www.orpha.net/ORDO/Orphanet_402082 Progressive myoclonic epilepsy type 5 'Progressive myoclonic epilepsy type 5' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 5' SubClassOf 'Progressive myoclonic epilepsy' 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_139536 Distal hereditary motor neuropathy type 5 'Distal hereditary motor neuropathy type 5' SubClassOf 'neuronopathy, distal hereditary motor' http://www.orpha.net/ORDO/Orphanet_2020 Congenital fiber-type disproportion myopathy 'Congenital fiber-type disproportion myopathy' SubClassOf 'actinopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'SELENON-related myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'RYR1-related myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'TPM2-related myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'TPM3-related myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' http://www.orpha.net/ORDO/Orphanet_140465 Autosomal dominant distal hereditary motor neuropathy 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'spinal muscular atrophy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'inherited amino acid metabolic disorder' http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98074 Gonadal dysgenesis of gynecological interest 'Gonadal dysgenesis of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' 'Gonadal dysgenesis of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_98086 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development of gynecological interest' 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 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_247709 Multiple endocrine neoplasia type 2B 'Multiple endocrine neoplasia type 2B' SubClassOf 'renal carcinoma' 'Multiple endocrine neoplasia type 2B' SubClassOf 'catecholamine-producing tumor' 'Multiple endocrine neoplasia type 2B' SubClassOf 'adrenal carcinoma' 'Multiple endocrine neoplasia type 2B' SubClassOf 'vascular cancer' 'Multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' http://www.orpha.net/ORDO/Orphanet_247765 X-linked cerebellar 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' http://www.orpha.net/ORDO/Orphanet_247698 Multiple endocrine neoplasia type 2A 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2B' 'Multiple endocrine neoplasia type 2A' SubClassOf 'autosomal dominant disease' 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0033569 combined oxidative phosphorylation deficiency 49 'combined oxidative phosphorylation deficiency 49' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033566 combined oxidative phosphorylation deficiency 48 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033565 oocyte maturation defect 9 'oocyte maturation defect 9' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0033564 oocyte maturation defect 8 'oocyte maturation defect 8' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0033563 retinitis pigmentosa 90 'retinitis pigmentosa 90' SubClassOf 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033561 deeah syndrome 'deeah syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033560 mitochondrial complex 1 deficiency, nuclear type 35 'mitochondrial complex 1 deficiency, nuclear type 35' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033559 intellectual developmental disorder with seizures and language delay 'intellectual developmental disorder with seizures and language delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033558 autoinflammation, immune dysregulation, and eosinophilia 'autoinflammation, immune dysregulation, and eosinophilia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033557 hemophagocytic lymphohistiocytosis, familial, 6 'hemophagocytic lymphohistiocytosis, familial, 6' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' http://purl.obolibrary.org/obo/MONDO_0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'genetic disorder' 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'immunodeficiency disease' 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033570 combined oxidative phosphorylation deficiency 50 'combined oxidative phosphorylation deficiency 50' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 'intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008135 optic atrophy with negative Electroretinograms 'optic atrophy with negative Electroretinograms' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033885 mitochondrial complex IV deficiency, nuclear-type 'mitochondrial complex IV deficiency, nuclear-type' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0033622 spermatogenic failure 44 'spermatogenic failure 44' SubClassOf 'azoospermia' 'spermatogenic failure 44' SubClassOf 'Genetic infertility' http://purl.obolibrary.org/obo/MONDO_0033621 spinal muscular atrophy, infantile, James type 'spinal muscular atrophy, infantile, James type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033620 myofibrillar myopathy 10 'myofibrillar myopathy 10' SubClassOf 'Myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0033619 myopathy, epilepsy, and progressive cerebral atrophy 'myopathy, epilepsy, and progressive cerebral atrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033618 Vissers-Bodmer syndrome 'Vissers-Bodmer syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033615 coenzyme q10 deficiency, primary, 9 'coenzyme q10 deficiency, primary, 9' SubClassOf 'Coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0033614 spastic paraplegia 83, autosomal recessive 'spastic paraplegia 83, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033649 mitochondrial complex 4 deficiency, nuclear type 14 'mitochondrial complex 4 deficiency, nuclear type 14' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033646 mitochondrial complex 4 deficiency, nuclear type 12 'mitochondrial complex 4 deficiency, nuclear type 12' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033645 mitochondrial complex 4 deficiency, nuclear type 11 'mitochondrial complex 4 deficiency, nuclear type 11' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033639 mitochondrial complex 4 deficiency, nuclear type 10 'mitochondrial complex 4 deficiency, nuclear type 10' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033638 mitochondrial complex 4 deficiency, nuclear type 8 'mitochondrial complex 4 deficiency, nuclear type 8' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033637 mitochondrial complex 4 deficiency, nuclear type 7 'mitochondrial complex 4 deficiency, nuclear type 7' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033636 mitochondrial complex 4 deficiency, nuclear type 4 'mitochondrial complex 4 deficiency, nuclear type 4' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033635 mitochondrial complex 4 deficiency, nuclear type 3 'mitochondrial complex 4 deficiency, nuclear type 3' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033656 mitochondrial complex 4 deficiency, nuclear type 21 'mitochondrial complex 4 deficiency, nuclear type 21' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033655 mitochondrial complex 4 deficiency, nuclear type 20 'mitochondrial complex 4 deficiency, nuclear type 20' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033654 mitochondrial complex 4 deficiency, nuclear type 19 'mitochondrial complex 4 deficiency, nuclear type 19' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033653 mitochondrial complex 4 deficiency, nuclear type 18 'mitochondrial complex 4 deficiency, nuclear type 18' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033652 mitochondrial complex 4 deficiency, nuclear type 17 'mitochondrial complex 4 deficiency, nuclear type 17' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033651 mitochondrial complex 4 deficiency, nuclear type 16 'mitochondrial complex 4 deficiency, nuclear type 16' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033650 mitochondrial complex 4 deficiency, nuclear type 15 'mitochondrial complex 4 deficiency, nuclear type 15' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0100214 Rajab interstitial lung disease with brain calcifications 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0100220 Rajab interstitial lung disease with brain calcifications 2 'Rajab interstitial lung disease with brain calcifications 2' SubClassOf 'Rajab interstitial lung disease with brain calcifications' http://purl.obolibrary.org/obo/MONDO_0100221 IFAP syndrome 2 'IFAP syndrome 2' SubClassOf 'IFAP syndrome' http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy 'LAMA2-related muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of merosin' 'LAMA2-related muscular dystrophy' SubClassOf 'Muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0010950 response to cranial radiation therapy 'response to cranial radiation therapy' SubClassOf 'response to radiation' http://www.ebi.ac.uk/efo/EFO_0010949 upper face morphology measurement 'upper face morphology measurement' SubClassOf 'facial morphology measurement' http://www.ebi.ac.uk/efo/EFO_0010947 epidermal growth factor measurement 'epidermal growth factor measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0010948 lower face morphology measurement 'lower face morphology measurement' SubClassOf 'facial morphology measurement' http://www.ebi.ac.uk/efo/EFO_0010945 CAST/EiJxC57BL/6J 'CAST/EiJxC57BL/6J' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0010946 C57BL/6JxCAST/EiJ 'C57BL/6JxCAST/EiJ' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0010943 recurrent tumor sample 'recurrent tumor sample' SubClassOf 'neoplastic sample' http://www.ebi.ac.uk/efo/EFO_0010941 metastasis sample 'metastasis sample' SubClassOf 'neoplastic sample' http://www.ebi.ac.uk/efo/EFO_0010942 primary tumor sample 'primary tumor sample' SubClassOf 'neoplastic sample' http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome 'congenital hypothalamic hamartoma syndrome' SubClassOf 'Pallister-Hall syndrome' http://purl.obolibrary.org/obo/MONDO_0024988 sex cord-stromal benign neoplasm 'sex cord-stromal benign neoplasm' SubClassOf 'sex cord-stromal tumor' 'sex cord-stromal benign neoplasm' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0010284 Armfield syndrome 'Armfield syndrome' SubClassOf 'congenital nervous system disorder' 'Armfield syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Armfield syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007812 ichthyosis, lamellar, autosomal dominant 'ichthyosis, lamellar, autosomal dominant' SubClassOf 'Lamellar ichthyosis' http://purl.obolibrary.org/obo/MONDO_0020802 obsolete basal cell cancer 'obsolete basal cell cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007776 hypersensitivity pneumonitis, familial 'hypersensitivity pneumonitis, familial' SubClassOf 'extrinsic allergic alveolitis' 'hypersensitivity pneumonitis, familial' SubClassOf 'genetic disorder' 'hypersensitivity pneumonitis, familial' EquivalentTo 'hypersensitivity pneumonitis' and ('has modifier' some 'inherited') 'hypersensitivity pneumonitis, familial' SubClassOf 'hypersensitivity pneumonitis' http://purl.obolibrary.org/obo/MONDO_0017040 exposure-related interstitial lung disease 'exposure-related interstitial lung disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0020537 occupational allergic alveolitis 'occupational allergic alveolitis' SubClassOf 'hypersensitivity pneumonitis' http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis 'Renal amyloidosis' SubClassOf 'Abnormality of metabolism/homeostasis' 'Renal amyloidosis' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0017977 obsolete 46,XY disorder of sex development of gynecological interest 'obsolete 46,XY disorder of sex development of gynecological interest' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017853 hypersensitivity pneumonitis 'hypersensitivity pneumonitis' SubClassOf 'has modifier' some 'rare' 'hypersensitivity pneumonitis' SubClassOf 'allergic respiratory disease' 'hypersensitivity pneumonitis' SubClassOf 'exposure-related interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0100131 pediatric acute respiratory distress syndrome 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0000138 metaphyseal chondrodysplasia (disease) 'metaphyseal chondrodysplasia (disease)' SubClassOf 'Pyle disease' http://purl.obolibrary.org/obo/MONDO_0019116 catecholamine-producing tumor 'catecholamine-producing tumor' SubClassOf 'genetic vascular tumor' 'catecholamine-producing tumor' SubClassOf 'Genetic hypertension' 'catecholamine-producing tumor' SubClassOf 'blood vessel neoplasm' 'catecholamine-producing tumor' SubClassOf 'adrenal/paraganglial tumor' 'catecholamine-producing tumor' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0000712 FTDALS 'FTDALS' SubClassOf 'Frontotemporal dementia with motor neuron disease' 'FTDALS' SubClassOf 'familial amyotrophic lateral sclerosis' 'FTDALS' EquivalentTo 'amyotrophic lateral sclerosis' and 'Frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0003044 extraosseous chondrosarcoma 'extraosseous chondrosarcoma' SubClassOf 'chondrosarcoma'