282 204 12 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_322126 Genetic tumor of hematopoietic and lymphoid tissues 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'rare hematologic disease' 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://purl.obolibrary.org/obo/MONDO_0008596 trichorhinophalangeal syndrome type I 'trichorhinophalangeal syndrome type I' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome type I' SubClassOf 'syndromic disease' 'trichorhinophalangeal syndrome type I' SubClassOf 'Trichorhinophalangeal syndrome type 1 and 3' 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.ebi.ac.uk/efo/EFO_1000367 Mediastinal Neuroblastoma 'Mediastinal Neuroblastoma' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'Mediastinal Neuroblastoma' SubClassOf 'mediastinal cancer' 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_0000249 Alzheimer's disease 'Alzheimer's disease' SubClassOf 'cognitive disorder' 'Alzheimer's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 http://purl.obolibrary.org/obo/HP_0004277 Fractured hand bones 'Fractured hand bones' SubClassOf 'Abnormality of skeletal morphology' http://www.orpha.net/ORDO/Orphanet_324977 Proteasome disability syndrome 'Proteasome disability syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Proteasome disability syndrome' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0009053 Primary progressive aphasia 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease with dementia' 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0000510 genetic modification 'genetic modification' SubClassOf 'experimental process' 'genetic modification' SubClassOf 'process' http://www.ebi.ac.uk/efo/EFO_1000075 Adrenal Gland Neuroblastoma 'Adrenal Gland Neuroblastoma' SubClassOf 'Malignant Germ Cell Tumor' 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_98905 Congenital multicore myopathy with external ophthalmoplegia 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100150 http://www.ebi.ac.uk/efo/EFO_0010211 sample barcode offset 'sample barcode offset' SubClassOf 'sample barcode' 'sample barcode offset' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010754 http://www.ebi.ac.uk/efo/EFO_0010212 sample barcode size 'sample barcode size' SubClassOf 'sample barcode' 'sample barcode size' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010755 http://www.ebi.ac.uk/efo/EFO_0010210 sample barcode read 'sample barcode read' SubClassOf 'sample barcode' 'sample barcode read' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010753 http://www.ebi.ac.uk/efo/EFO_0010217 spike in dilution 'spike in dilution' SubClassOf 'spike in' 'spike in dilution' SubClassOf 'single cell library information' http://www.ebi.ac.uk/efo/EFO_0010202 cDNA read size 'cDNA read size' SubClassOf 'cDNA read' 'cDNA read size' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010752 http://www.ebi.ac.uk/efo/EFO_0010203 cell barcode read 'cell barcode read' SubClassOf 'cell barcode' 'cell barcode read' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010753 http://www.ebi.ac.uk/efo/EFO_0010201 cDNA read offset 'cDNA read offset' SubClassOf 'cDNA read' 'cDNA read offset' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010751 http://www.ebi.ac.uk/efo/EFO_0010208 UMI barcode read 'UMI barcode read' SubClassOf 'UMI barcode' 'UMI barcode read' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010753 http://www.ebi.ac.uk/efo/EFO_0010209 UMI barcode size 'UMI barcode size' SubClassOf 'UMI barcode' 'UMI barcode size' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010755 http://www.ebi.ac.uk/efo/EFO_0010207 UMI barcode offset 'UMI barcode offset' SubClassOf 'UMI barcode' 'UMI barcode offset' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010754 http://www.ebi.ac.uk/efo/EFO_0010204 cell barcode offset 'cell barcode offset' SubClassOf 'cell barcode' 'cell barcode offset' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010754 http://www.ebi.ac.uk/efo/EFO_0010205 cell barcode size 'cell barcode size' SubClassOf 'cell barcode' 'cell barcode size' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010755 http://www.ebi.ac.uk/efo/EFO_0010196 inferred cell type 'inferred cell type' SubClassOf 'cell type' http://www.ebi.ac.uk/efo/EFO_0000727 treatment 'treatment' SubClassOf 'experimental process' 'treatment' SubClassOf 'planned process' http://www.orpha.net/ORDO/Orphanet_86816 Congenital analbuminemia 'Congenital analbuminemia' SubClassOf 'rare hematologic disease' 'Congenital analbuminemia' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis 'idiopathic pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://www.ebi.ac.uk/efo/EFO_0009119 precursor lymphoblastic lymphoma/leukemia 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'lymphoblastic leukemia' 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'leukemia' http://www.orpha.net/ORDO/Orphanet_98897 Oculopharyngodistal myopathy 'Oculopharyngodistal myopathy' SubClassOf 'Myopathy with eye involvement' 'Oculopharyngodistal myopathy' SubClassOf 'Distal myopathy' 'Oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' 'Oculopharyngodistal myopathy' SubClassOf 'rare disorder with ptosis' 'Oculopharyngodistal myopathy' SubClassOf 'Distal myopathy' 'Oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Trisomy 18' SubClassOf 'Eyebrow hypertrophy' 'Trisomy 18' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Trisomy 18' SubClassOf 'Eyebrow hypertrophy' http://www.orpha.net/ORDO/Orphanet_3440 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Waardenburg syndrome' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Miles-Carpenter syndrome' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025445 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3437 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Vogt-Koyanagi-Harada disease' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Vogt-Koyanagi-Harada disease' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_180772 Rare disease with autism 'Rare disease with autism' SubClassOf 'has modifier' some 'rare' 'Rare disease with autism' SubClassOf 'pervasive developmental disorder' http://www.orpha.net/ORDO/Orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'eye degenerative disease' http://www.orpha.net/ORDO/Orphanet_324999 JMP syndrome 'JMP syndrome' SubClassOf 'autosomal recessive disease' 'JMP syndrome' SubClassOf 'Proteasome disability syndrome' 'JMP syndrome' SubClassOf 'Proteasome disability syndrome' 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.orpha.net/ORDO/Orphanet_248296 Constitutional deficiency anemia 'Constitutional deficiency anemia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Lymphedema - distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' http://www.orpha.net/ORDO/Orphanet_35664 ALDH18A1-related De Barsy syndrome 'ALDH18A1-related De Barsy syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'ALDH18A1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100126 http://www.orpha.net/ORDO/Orphanet_371439 Genetic cerebrovascular dementia 'Genetic cerebrovascular dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 http://www.ebi.ac.uk/efo/EFO_0009308 response to long-chain n-3 PUFA dietary supplementation 'response to long-chain n-3 PUFA dietary supplementation' SubClassOf 'response to stimulus' 'response to long-chain n-3 PUFA dietary supplementation' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010757 http://www.orpha.net/ORDO/Orphanet_275752 Sickle cell disease and related diseases 'Sickle cell disease and related diseases' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_275749 Beta-thalassemia and related diseases 'Beta-thalassemia and related diseases' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_275745 Alpha-thalassemia and related diseases 'Alpha-thalassemia and related diseases' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018719 rare capillary malformation with associated anomalies 'rare capillary malformation with associated anomalies' SubClassOf 'has modifier' some 'rare' 'rare capillary malformation with associated anomalies' SubClassOf 'capillary malformation' http://www.orpha.net/ORDO/Orphanet_58 Alexander disease 'Alexander disease' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_280615 Hemoglobinopathy Toms River 'Hemoglobinopathy Toms River' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018797 genetic cardiac malformation 'genetic cardiac malformation' SubClassOf 'has modifier' some 'rare' 'genetic cardiac malformation' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_63 Alport syndrome 'Alport syndrome' SubClassOf 'monogenic disease' http://www.orpha.net/ORDO/Orphanet_37 Acrodermatitis enteropathica 'Acrodermatitis enteropathica' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Acrodermatitis enteropathica' SubClassOf 'Developmental anomaly of metabolic origin' 'Acrodermatitis enteropathica' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_31 Oxoglutaricaciduria 'Oxoglutaricaciduria' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_46 Adenylosuccinate lyase deficiency 'Adenylosuccinate lyase deficiency' SubClassOf 'Rare disease with autism' 'Adenylosuccinate lyase deficiency' SubClassOf 'Rare disease with autism' http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_44 Neonatal adrenoleukodystrophy 'Neonatal adrenoleukodystrophy' SubClassOf 'eye degenerative 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_24 Fumaric aciduria 'Fumaric aciduria' SubClassOf 'Cerebral organic aciduria' http://www.ebi.ac.uk/efo/EFO_0004771 visual cortical surface area measurement 'visual cortical surface area measurement' SubClassOf 'brain measurement' 'visual cortical surface area measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010736 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://purl.obolibrary.org/obo/MONDO_0018696 corticobasal syndrome 'corticobasal syndrome' SubClassOf 'Genetic dementia' 'corticobasal syndrome' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0004718 vascular dementia 'vascular dementia' SubClassOf 'cognitive disorder' 'vascular dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 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_363654 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100146 http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism 'hypogonadotropic hypogonadism' SubClassOf 'disease of signal transduction' http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf 'disease of signal transduction' http://www.ebi.ac.uk/efo/EFO_1000837 beriberi 'beriberi' SubClassOf 'disease causes feature' some 'Wernicke-Korsakoff syndrome' http://www.orpha.net/ORDO/Orphanet_314389 Xq12-q13.3 duplication syndrome 'Xq12-q13.3 duplication syndrome' SubClassOf 'Rare disease with autism' 'Xq12-q13.3 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'Xq12-q13.3 duplication syndrome' SubClassOf 'Rare disease with autism' 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.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'newborn respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100131 http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf 'cognitive disorder' 'AIDS dementia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001627 and ('disease arises from feature' some 'HIV infection') 'AIDS dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'microcephaly (disease)' http://www.orpha.net/ORDO/Orphanet_279943 Hereditary neutrophilia 'Hereditary neutrophilia' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'has modifier' some 'rare' 'primary myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://purl.obolibrary.org/obo/MONDO_0018271 peripheral primitive neuroectodermal tumor 'peripheral primitive neuroectodermal tumor' SubClassOf 'Malignant Germ Cell Tumor' http://www.orpha.net/ORDO/Orphanet_1677 Familial idiopathic dilatation of the right atrium 'Familial idiopathic dilatation of the right atrium' SubClassOf 'genetic cardiac malformation' http://www.orpha.net/ORDO/Orphanet_79134 DEND syndrome 'DEND syndrome' SubClassOf 'Permanent neonatal diabetes mellitus' 'DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100164 http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0000220 acute lymphoblastic leukemia 'acute lymphoblastic leukemia' SubClassOf 'acute disease' http://www.orpha.net/ORDO/Orphanet_399775 Male infertility with spermatogenesis disorder 'Male infertility with spermatogenesis disorder' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0018072 persistent truncus arteriosus 'persistent truncus arteriosus' SubClassOf 'genetic cardiac malformation' http://www.ebi.ac.uk/efo/EFO_0000095 chronic lymphocytic leukemia 'chronic lymphocytic leukemia' SubClassOf 'lymphoid leukemia' 'chronic lymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0005269 congenital heart malformation 'congenital heart malformation' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease of receptor activity' 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://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'germ cell and embryonal cancer' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency 'L-ferritin deficiency' SubClassOf 'rare hematologic disease' 'L-ferritin deficiency' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_163746 Neurologic Waardenburg-Shah syndrome 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'eye degenerative disease' http://www.ebi.ac.uk/efo/EFO_0005402 response to low sodium diet 'response to low sodium diet' SubClassOf 'response to stimulus' 'response to low sodium diet' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010757 http://www.ebi.ac.uk/efo/EFO_0005403 response to dietary potassium supplementation 'response to dietary potassium supplementation' SubClassOf 'response to stimulus' 'response to dietary potassium supplementation' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010757 http://www.ebi.ac.uk/efo/EFO_0005401 response to high sodium diet 'response to high sodium diet' SubClassOf 'response to stimulus' 'response to high sodium diet' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010757 http://purl.obolibrary.org/obo/MONDO_0016625 acquired deficiency anemia 'acquired deficiency anemia' SubClassOf 'has modifier' some 'rare' 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.orpha.net/ORDO/Orphanet_99177 Isolated distichiasis 'Isolated distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Isolated distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Rare disease with autism' 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_77258 Trichorhinophalangeal syndrome type 1 and 3 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'trichorhinophalangeal syndrome type I' 'Langer-Giedion syndrome' DisjointWith 'Trichorhinophalangeal syndrome type 1 and 3' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'autosomal dominant disease' 'Trichorhinophalangeal syndrome type 1 and 3' EquivalentTo 'trichorhinophalangeal syndrome type I' or http://purl.obolibrary.org/obo/MONDO_0008597 http://purl.obolibrary.org/obo/MONDO_0004403 childhood precursor T-lymphoblastic lymphoma/leukemia 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood leukemia' 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood cancer' 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_90039 Hemoglobin D disease 'Hemoglobin D disease' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005558 hemolytic anemia 'hemolytic anemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018926 human prion disease 'human prion disease' SubClassOf 'neurodegenerative disease with dementia' 'human prion disease' SubClassOf 'central nervous system infection' 'human prion disease' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0018972 rare epithelial tumor of stomach 'rare epithelial tumor of stomach' SubClassOf 'rare gastroesophageal tumor' 'rare epithelial tumor of stomach' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0005844 response to dietary antigen 'response to dietary antigen' SubClassOf 'response to stimulus' 'response to dietary antigen' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010757 http://www.orpha.net/ORDO/Orphanet_100990 Autosomal dominant spastic paraplegia type 9 'Autosomal dominant spastic paraplegia type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100126 http://www.orpha.net/ORDO/Orphanet_158124 Genetic dementia 'Genetic dementia' SubClassOf 'cognitive disorder' 'Genetic dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 'Genetic dementia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001627 and ('has modifier' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0005803 hematologic disease 'hematologic disease' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005804 polycythemia 'polycythemia' SubClassOf 'rare hematologic disease' http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_3095 Atypical Rett syndrome 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100148 http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_99845 Genetic recurrent myoglobinuria 'Genetic recurrent myoglobinuria' SubClassOf 'Muscular lipidosis' 'Genetic recurrent myoglobinuria' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Genetic recurrent myoglobinuria' SubClassOf 'Muscular lipidosis' 'Genetic recurrent myoglobinuria' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 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' http://purl.obolibrary.org/obo/MONDO_0000640 central nervous system primitive neuroectodermal neoplasm 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system germ cell tumor' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'extragonadal germ cell cancer' http://www.orpha.net/ORDO/Orphanet_99885 Permanent neonatal diabetes mellitus 'Permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'Permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_85282 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MEHMO syndrome' SubClassOf 'mitochondrial disease with epilepsy' 'MEHMO syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_99741 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'Congenital myopathy' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100150 http://www.orpha.net/ORDO/Orphanet_85163 Hypomyelination - congenital cataract 'Hypomyelination - congenital cataract' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/MONDO_0000551 retroperitoneal neuroblastoma 'retroperitoneal neuroblastoma' SubClassOf 'retroperitoneal germ cell neoplasm' 'retroperitoneal neuroblastoma' SubClassOf 'retroperitoneal neoplasm' http://www.ebi.ac.uk/efo/EFO_0007244 Ebstein anomaly 'Ebstein anomaly' SubClassOf 'genetic cardiac malformation' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3306 Duplication/inversion 15q11 'Duplication/inversion 15q11' SubClassOf 'Rare disease with autism' 'Duplication/inversion 15q11' SubClassOf 'Rare disease with autism' http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease 'autosomal genetic disease' SubClassOf 'monogenic disease' 'autosomal genetic disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia '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' 'cerebellar ataxia' SubClassOf 'has modifier' some 'rare' 'cerebellar ataxia' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010731 response to low calorie diet 'response to low calorie diet' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010757 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.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Sturge-Weber syndrome' SubClassOf 'rare capillary malformation with associated anomalies' 'Sturge-Weber syndrome' SubClassOf 'Genetic neurovascular malformation' 'Sturge-Weber syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Sturge-Weber syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'Genetic neurovascular malformation' 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' 'Sturge-Weber syndrome' SubClassOf 'Genetic vascular anomaly' 'Sturge-Weber syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf 'has modifier' some 'rare' 'idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://www.orpha.net/ORDO/Orphanet_329195 Developmental delay with autism spectrum disorder and gait instability 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Rare disease with autism' 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Rare disease with autism' http://purl.obolibrary.org/obo/MONDO_0002872 trophoblastic neoplasm 'trophoblastic neoplasm' SubClassOf 'germ cell and embryonal cancer' 'trophoblastic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system 'congenital anomaly of cardiovascular system' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0000275 monogenic disease 'monogenic disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002798 childhood central nervous system primitive neuroectodermal neoplasm 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'childhood central nervous system germ cell tumor' 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' http://www.orpha.net/ORDO/Orphanet_100054 Hereditary angioedema type 3 'Hereditary angioedema type 3' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0033947 http://www.orpha.net/ORDO/Orphanet_100050 Hereditary angioedema type 1 'Hereditary angioedema type 1' SubClassOf 'angioedema, hereditary, type 1/2' 'Hereditary angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0033946 http://www.orpha.net/ORDO/Orphanet_100051 Hereditary angioedema type 2 'Hereditary angioedema type 2' SubClassOf 'angioedema, hereditary, type 1/2' 'Hereditary angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0033946 http://www.orpha.net/ORDO/Orphanet_210548 Macrocephaly-autism syndrome 'Macrocephaly-autism syndrome' SubClassOf 'Rare disease with autism' 'Macrocephaly-autism syndrome' SubClassOf 'Rare disease with autism' http://purl.obolibrary.org/obo/MONDO_0002601 teratoma 'teratoma' SubClassOf 'germ cell and embryonal cancer' http://www.orpha.net/ORDO/Orphanet_330041 Autosomal dominant methemoglobinemia 'Autosomal dominant methemoglobinemia' SubClassOf 'has modifier' some 'rare' 'Autosomal dominant methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'Autosomal dominant methemoglobinemia' SubClassOf 'anemia (disease)' 'Autosomal dominant methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' 'Autosomal dominant methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0014611 multiple mitochondrial dysfunctions syndrome 4 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002510 germ cell and embryonal cancer 'germ cell and embryonal cancer' SubClassOf 'germ cell tumor' http://www.orpha.net/ORDO/Orphanet_2615 Nakajo-Nishimura syndrome 'Nakajo-Nishimura syndrome' SubClassOf 'Proteasome disability syndrome' 'Nakajo-Nishimura syndrome' SubClassOf 'Proteasome disability syndrome' http://www.orpha.net/ORDO/Orphanet_2609 Isolated NADH-CoQ reductase deficiency 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'disease of macromolecular complex' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'mitochondrial complex deficiency' 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100133 http://www.orpha.net/ORDO/Orphanet_276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'X-linked disease' 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'congenital nervous system disorder' 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100124 http://purl.obolibrary.org/obo/MONDO_0007117 angioedema, hereditary, type 1/2 'angioedema, hereditary, type 1/2' SubClassOf 'serpinopathy' 'angioedema, hereditary, type 1/2' SubClassOf 'Hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0020136 neurodegenerative disease with dementia 'neurodegenerative disease with dementia' SubClassOf 'cognitive disorder' 'neurodegenerative disease with dementia' SubClassOf 'neurodegenerative disease' 'neurodegenerative disease with dementia' SubClassOf 'has modifier' some 'rare' 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://purl.obolibrary.org/obo/MONDO_0020141 infectious disease with dementia 'infectious disease with dementia' SubClassOf 'cognitive disorder' 'infectious disease with dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 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_313850 Infantile cerebellar-retinal degeneration 'Infantile cerebellar-retinal degeneration' SubClassOf 'Cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010666 Miles-Carpenter syndrome 'Miles-Carpenter syndrome' SubClassOf 'congenital nervous system disorder' 'Miles-Carpenter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Miles-Carpenter syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020006 rare hematologic disease 'rare hematologic disease' SubClassOf 'has modifier' some 'rare' 'rare hematologic disease' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_2884 Piebaldism 'Piebaldism' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Piebaldism' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' http://purl.obolibrary.org/obo/MONDO_0019086 carcinoma of esophagus 'carcinoma of esophagus' SubClassOf 'rare gastroesophageal tumor' http://www.orpha.net/ORDO/Orphanet_178330 Heinz body anemia 'Heinz body anemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010584 dyskeratosis congenita, X-linked 'dyskeratosis congenita, X-linked' SubClassOf 'Dyskeratosis congenita' 'dyskeratosis congenita, X-linked' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100152 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_2745 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'monogenic disease' http://www.orpha.net/ORDO/Orphanet_2238 Familial isolated hypoparathyroidism 'Familial isolated hypoparathyroidism' SubClassOf 'Metabolic disease with cataract' 'Familial isolated hypoparathyroidism' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_2268 ICF syndrome 'ICF syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://www.orpha.net/ORDO/Orphanet_2222 Hypertrichosis lanuginosa congenita 'Hypertrichosis lanuginosa congenita' SubClassOf 'Eyebrow/eyelashes hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Eyebrow/eyelashes hypertrichosis' http://www.ebi.ac.uk/efo/EFO_1001221 twin-to-twin transfusion syndrome 'twin-to-twin transfusion syndrome' SubClassOf 'rare hematologic disease' http://www.orpha.net/ORDO/Orphanet_2133 Hemoglobin E disease 'Hemoglobin E disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2132 Hemoglobin C disease 'Hemoglobin C disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_166472 Monogenic disease with epilepsy 'Monogenic disease with epilepsy' SubClassOf 'monogenic disease' http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cornelia de Lange syndrome' SubClassOf 'Eyebrow hypertrophy' 'Cornelia de Lange syndrome' SubClassOf 'rare disorder with ptosis' 'Cornelia de Lange syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cornelia de Lange syndrome' SubClassOf 'Eyebrow hypertrophy' 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_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' http://www.orpha.net/ORDO/Orphanet_141 Canavan disease 'Canavan disease' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001008 kuru 'kuru' SubClassOf 'infectious disease with dementia' 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_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_293948 1p21.3 microdeletion syndrome '1p21.3 microdeletion syndrome' SubClassOf 'Rare disease with autism' '1p21.3 microdeletion syndrome' SubClassOf 'Rare disease with autism' 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_399 Huntington disease 'Huntington disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001627 http://www.orpha.net/ORDO/Orphanet_428 Autosomal dominant hypocalcemia 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_447 Paroxysmal nocturnal hemoglobinuria 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has modifier' some 'rare' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://purl.obolibrary.org/obo/MONDO_0032910 mitochondrial complex 1 deficiency, nuclear type 34 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'Isolated NADH-CoQ reductase deficiency' 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'Isolated NADH-CoQ reductase deficiency' http://www.orpha.net/ORDO/Orphanet_293830 Constitutional dyserythropoietic anemia 'Constitutional dyserythropoietic anemia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_269 Facioscapulohumeral dystrophy 'Facioscapulohumeral dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://purl.obolibrary.org/obo/MONDO_0044977 disease of receptor activity 'disease of receptor activity' SubClassOf 'disease of signal transduction' http://www.orpha.net/ORDO/Orphanet_93614 Hematological disorder with renal involvement 'Hematological disorder with renal involvement' SubClassOf 'has modifier' some 'rare' 'Hematological disorder with renal involvement' SubClassOf 'hematologic disease' 'Hematological disorder with renal involvement' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_597 Central core disease 'Central core disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100150 http://www.orpha.net/ORDO/Orphanet_325004 CANDLE syndrome 'CANDLE syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'CANDLE syndrome' SubClassOf 'Proteasome disability syndrome' 'CANDLE syndrome' SubClassOf 'Proteasome disability syndrome' http://www.orpha.net/ORDO/Orphanet_621 Hereditary methemoglobinemia 'Hereditary methemoglobinemia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_634 Netherton syndrome 'Netherton syndrome' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Netherton syndrome' SubClassOf 'Eyebrow/eyelashes structural anomaly' http://www.ebi.ac.uk/efo/EFO_0001068 malaria 'malaria' SubClassOf 'has modifier' some 'rare' 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://www.orpha.net/ORDO/Orphanet_93952 X-linked intellectual disability, Hedera type 'X-linked intellectual disability, Hedera type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100146 http://www.orpha.net/ORDO/Orphanet_487 Krabbe disease 'Krabbe disease' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_183589 Genetic thrombotic microangiopathy 'Genetic thrombotic microangiopathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007796 hypoparathyroidism, familial isolated 'hypoparathyroidism, familial isolated' SubClassOf 'Familial isolated hypoparathyroidism' 'hypoparathyroidism, familial isolated' SubClassOf 'Familial isolated hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' DisjointWith 'Trichorhinophalangeal syndrome type 1 and 3' http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'eye degenerative disease' http://www.orpha.net/ORDO/Orphanet_183654 Rare genetic coagulation disorder 'Rare genetic coagulation disorder' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_568 Microphthalmia, Lenz type 'Microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100124 http://www.orpha.net/ORDO/Orphanet_565 Menkes disease 'Menkes disease' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Menkes disease' SubClassOf 'Eyebrow/eyelashes structural anomaly' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'Eyebrow hypertrophy' 'Mucopolysaccharidosis type 1' SubClassOf 'Eyebrow hypertrophy' http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction 'Left ventricular noncompaction' SubClassOf 'genetic cardiac malformation' http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease 'sex-linked disease' SubClassOf 'monogenic disease' 'sex-linked disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_254749 Tricarboxylic acid cycle disorder 'Tricarboxylic acid cycle disorder' SubClassOf 'Organic aciduria' http://www.ebi.ac.uk/efo/EFO_0003931 bone fracture 'bone fracture' SubClassOf 'bone disease' 'bone fracture' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Treacher-Collins syndrome' SubClassOf 'Eyebrow/eyelashes distichiasis' http://www.ebi.ac.uk/efo/EFO_1001948 childhood T lymphoblastic lymphoma 'childhood T lymphoblastic lymphoma' SubClassOf 'primary bone lymphoma' http://www.orpha.net/ORDO/Orphanet_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'Rare disease with autism' 'Smith-Magenis syndrome' SubClassOf 'Rare disease with autism' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'eye degenerative disease' http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 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_276061 Genetic frontotemporal degeneration with dementia 'Genetic frontotemporal degeneration with dementia' SubClassOf 'neurodegenerative disease with dementia' 'Genetic frontotemporal degeneration with dementia' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_276058 Genetic neurodegenerative disease with dementia 'Genetic neurodegenerative disease with dementia' EquivalentTo 'neurodegenerative disease with dementia' and ('has modifier' some 'inherited') 'Genetic neurodegenerative disease with dementia' SubClassOf 'neurodegenerative disease with dementia' http://www.orpha.net/ORDO/Orphanet_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf 'disease of receptor activity' http://www.orpha.net/ORDO/Orphanet_778 Rett syndrome 'Rett syndrome' SubClassOf 'disease has feature' some 'autism' 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100148 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_313838 Coats plus syndrome 'Coats plus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://www.orpha.net/ORDO/Orphanet_702 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0019470 aggressive NK-cell leukemia 'aggressive NK-cell leukemia' SubClassOf 'lymphoid leukemia' 'aggressive NK-cell leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'aggressive NK-cell leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' http://www.orpha.net/ORDO/Orphanet_68356 Leukodystrophy 'Leukodystrophy' SubClassOf 'Rare genetic neurological disorder' 'Leukodystrophy' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://purl.obolibrary.org/obo/MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'Rare disease with autism' 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_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'Rare disease with autism' 'Fragile X syndrome' SubClassOf 'Rare disease with autism' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/MONDO_0001018 lymphoblastic leukemia 'lymphoblastic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0001023 prolymphocytic leukemia 'prolymphocytic leukemia' SubClassOf 'lymphoid leukemia' 'prolymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0003685 retroperitoneal germ cell neoplasm 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' 'retroperitoneal germ cell neoplasm' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003750 childhood central nervous system germ cell tumor 'childhood central nervous system germ cell tumor' SubClassOf 'central nervous system germ cell tumor' 'childhood central nervous system germ cell tumor' SubClassOf 'childhood germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0006475 plasma cell leukemia 'plasma cell leukemia' SubClassOf 'lymphoid leukemia' 'plasma cell leukemia' SubClassOf 'acute lymphoblastic leukemia' 'plasma cell leukemia' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0003649 esophageal neuroendocrine tumor 'esophageal neuroendocrine tumor' SubClassOf 'rare gastroesophageal tumor' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'cognitive disorder' 'Lewy body dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001627 http://www.ebi.ac.uk/efo/EFO_0004126 Adie syndrome 'Adie syndrome' SubClassOf 'sensory system disease' 'Adie syndrome' SubClassOf 'nervous system 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.ebi.ac.uk/efo/EFO_0004289 lymphoid leukemia 'lymphoid leukemia' SubClassOf 'lymphoblastic leukemia' 'lymphoid leukemia' SubClassOf 'leukemia' http://www.orpha.net/ORDO/Orphanet_137911 Autism - facial port-wine stain 'Autism - facial port-wine stain' SubClassOf 'Rare disease with autism' 'Autism - facial port-wine stain' SubClassOf 'Rare disease with autism' http://purl.obolibrary.org/obo/HP_0008209 Premature ovarian insufficiency 'Premature ovarian insufficiency' SubClassOf 'Abnormality of the genital system' 'Premature ovarian insufficiency' SubClassOf 'Abnormal morphology of female internal genitalia' http://www.orpha.net/ORDO/Orphanet_42775 PHACE syndrome 'PHACE syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'PHACE syndrome' SubClassOf 'vascular tumor with associated anomalies' 'PHACE syndrome' SubClassOf 'rare genetic vascular tumor' 'PHACE syndrome' SubClassOf 'Genetic neurovascular malformation' 'PHACE syndrome' SubClassOf 'Genetic skin tumor' 'PHACE syndrome' SubClassOf 'Moyamoya syndrome' 'PHACE syndrome' SubClassOf 'neoplasm of thorax' 'PHACE syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'PHACE syndrome' SubClassOf 'Genetic neurovascular malformation' 'PHACE syndrome' SubClassOf 'disease has feature' some 'Genetic neurovascular malformation' http://www.orpha.net/ORDO/Orphanet_42665 Tietz syndrome 'Tietz syndrome' SubClassOf 'monogenic disease' http://www.ebi.ac.uk/efo/EFO_0008381 total cortical area measurement 'total cortical area measurement' SubClassOf 'brain measurement' 'total cortical area measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010736 http://www.orpha.net/ORDO/Orphanet_98595 Eyebrow/eyelashes hypertrichosis 'Eyebrow/eyelashes hypertrichosis' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes hypertrichosis' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98594 Rare eyebrow/eyelashes anomaly 'Rare eyebrow/eyelashes anomaly' SubClassOf 'has modifier' some 'rare' 'Rare eyebrow/eyelashes anomaly' SubClassOf 'eye adnexa disease' http://www.orpha.net/ORDO/Orphanet_98597 Eyelashes hypertrophy 'Eyelashes hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyelashes hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98596 Eyebrow hypertrophy 'Eyebrow hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98599 Eyebrow/eyelashes structural anomaly 'Eyebrow/eyelashes structural anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes structural anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98598 Congenital absence of the eyebrow/eyelashes 'Congenital absence of the eyebrow/eyelashes' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Congenital absence of the eyebrow/eyelashes' SubClassOf 'Rare eyebrow/eyelashes anomaly' 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_59135 Laing early-onset distal myopathy 'Laing early-onset distal myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' SubClassOf 'has modifier' some 'rare' 'inherited aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100137 http://www.orpha.net/ORDO/Orphanet_2020 Congenital fiber-type disproportion myopathy 'Congenital fiber-type disproportion myopathy' SubClassOf 'SELENON-related myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100150 http://www.orpha.net/ORDO/Orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'genetic skin disease' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'skin vascular disease' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Overgrowth syndrome' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Genetic vascular anomaly' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'rare capillary malformation with associated anomalies' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Overgrowth syndrome' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://www.orpha.net/ORDO/Orphanet_98601 Eyebrow/eyelashes pigmentation anomaly 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'pigmentation disease' 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'genetic skin disease' 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98600 Eyebrow/eyelashes distichiasis 'Eyebrow/eyelashes distichiasis' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes distichiasis' SubClassOf 'Rare eyebrow/eyelashes anomaly' 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_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_140969 Saldino-Mainzer syndrome 'Saldino-Mainzer syndrome' SubClassOf 'Acromelic dysplasia' 'Saldino-Mainzer syndrome' SubClassOf 'Familial cystic renal disease' 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Saldino-Mainzer syndrome' SubClassOf 'Acromelic dysplasia' 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_98369 Rare constitutional hemolytic anemia due to an enzyme disorder 'Rare constitutional hemolytic anemia due to an enzyme disorder' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Rare disease with autism' http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin 'rare thrombotic disease of hematologic origin' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease of receptor activity' 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_223713 Mitochondrial oxidative phosphorylation disorder 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_294016 Microcephaly-capillary malformation syndrome 'Microcephaly-capillary malformation syndrome' SubClassOf 'neurovascular disease' 'Microcephaly-capillary malformation syndrome' SubClassOf 'rare capillary malformation with associated anomalies' 'Microcephaly-capillary malformation syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0015881 rare gastroesophageal tumor 'rare gastroesophageal tumor' SubClassOf 'gastroesophageal disease' 'rare gastroesophageal tumor' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/HP_0004408 Abnormality of the sense of smell 'Abnormality of the sense of smell' SubClassOf 'Abnormal nervous system physiology' 'Abnormality of the sense of smell' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome, type III 'trichorhinophalangeal syndrome, type III' SubClassOf 'Trichorhinophalangeal syndrome type 1 and 3' http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'syndromic disease' 'sweet syndrome' SubClassOf 'rheumatic disease' 'sweet syndrome' SubClassOf 'other acquired skin disease' http://purl.obolibrary.org/obo/MONDO_0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 'Fanconi anemia complementation group D1' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Fanconi anemia complementation group D1' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Ectodermal dysplasia syndrome' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'rare disease with odontological manifestation' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'syndrome with woolly hair' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'cardioectodermal syndrome' http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'Hereditary breast and ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'hemorrhagic disorder due to a qualitative platelet defect' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0018653 Polymerase proofreading-related adenomatous polyposis 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/HP_0000223 Abnormality of taste sensation 'Abnormality of taste sensation' SubClassOf 'Abnormal nervous system physiology' 'Abnormality of taste sensation' SubClassOf 'Abnormality of the tongue' http://purl.obolibrary.org/obo/MONDO_0033948 acquired angioedema with c1inh deficiency 'acquired angioedema with c1inh deficiency' SubClassOf 'acquired angioedema' 'acquired angioedema with c1inh deficiency' EquivalentTo 'acquired angioedema' and ('disease has feature' some 'serpinopathy with loss of serpin function') 'acquired angioedema with c1inh deficiency' SubClassOf 'disease has feature' some 'serpinopathy with loss of serpin function' http://purl.obolibrary.org/obo/MONDO_0033947 hereditary angioedema with normal c1Inh 'hereditary angioedema with c1Inh deficiency' DisjointWith 'hereditary angioedema with normal c1Inh' 'hereditary angioedema with normal c1Inh' SubClassOf 'Hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0033946 hereditary angioedema with c1Inh deficiency 'hereditary angioedema with c1Inh deficiency' EquivalentTo 'Hereditary angioedema' and ('disease has feature' some 'serpinopathy with loss of serpin function') 'hereditary angioedema with c1Inh deficiency' SubClassOf 'disease has feature' some 'serpinopathy with loss of serpin function' 'hereditary angioedema with c1Inh deficiency' SubClassOf 'Hereditary angioedema' 'hereditary angioedema with c1Inh deficiency' DisjointWith 'hereditary angioedema with normal c1Inh' 'hereditary angioedema with c1Inh deficiency' SubClassOf 'serpinopathy' http://purl.obolibrary.org/obo/MONDO_0008760 beta-ketothiolase deficiency 'beta-ketothiolase deficiency' SubClassOf 'Disorder of ketone body metabolism' 'beta-ketothiolase deficiency' SubClassOf 'autosomal recessive disease' 'beta-ketothiolase deficiency' SubClassOf 'Classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor type 1 'Wilms tumor type 1' SubClassOf 'hereditary Wilms' tumor' 'Wilms tumor type 1' SubClassOf 'kidney Wilms tumor' 'Wilms tumor type 1' SubClassOf 'Nephroblastoma' http://purl.obolibrary.org/obo/MONDO_0014428 autosomal recessive nonsyndromic deafness 102 'autosomal recessive nonsyndromic deafness 102' SubClassOf 'autosomal recessive nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0014013 maternal riboflavin deficiency 'maternal riboflavin deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0100150 RYR1-related myopathy 'RYR1-related myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0100152 DKC1-related disorder 'DKC1-related disorder' SubClassOf 'Dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 'Imerslund-Grasbeck syndrome type 2' SubClassOf 'autosomal recessive disease' 'Imerslund-Grasbeck syndrome type 2' SubClassOf 'Gräsbeck-Imerslund disease' http://purl.obolibrary.org/obo/MONDO_0100164 permanent neonatal diabetes mellitus 'permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0100130 adult acute respiratory distress syndrome 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 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_0100133 mitochondrial complex I deficiency 'mitochondrial complex I deficiency' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex I deficiency' SubClassOf 'disease of macromolecular complex' http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome 'telomere syndrome' SubClassOf 'Premature aging' http://purl.obolibrary.org/obo/MONDO_0100139 asymptomatic COVID-19 infection 'asymptomatic COVID-19 infection' SubClassOf 'COVID-19' http://purl.obolibrary.org/obo/MONDO_0100140 mild COVID-19 infection 'mild COVID-19 infection' SubClassOf 'COVID-19' http://purl.obolibrary.org/obo/MONDO_0100141 moderate COVID-19 infection 'moderate COVID-19 infection' SubClassOf 'COVID-19' http://purl.obolibrary.org/obo/MONDO_0100142 severe COVID-19 infection 'severe COVID-19 infection' SubClassOf 'COVID-19' http://purl.obolibrary.org/obo/MONDO_0100143 critical COVID-19 infection 'critical COVID-19 infection' SubClassOf 'COVID-19' http://purl.obolibrary.org/obo/MONDO_0100146 ATP6AP2-related disorder 'ATP6AP2-related disorder' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100148 X-linked complex neurodevelopmental disorder 'X-linked complex neurodevelopmental disorder' SubClassOf 'Rare genetic neurological disorder' 'X-linked complex neurodevelopmental disorder' SubClassOf 'complex neurodevelopmental disorder' 'X-linked complex neurodevelopmental disorder' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0100124 NAA10-related syndrome 'NAA10-related syndrome' SubClassOf 'disease has feature' some 'autism spectrum disorder' 'NAA10-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100126 P5CS deficiency 'P5CS deficiency' SubClassOf 'Disorder of ornithine metabolism' 'P5CS deficiency' SubClassOf 'Disorder of proline metabolism' http://purl.obolibrary.org/obo/MONDO_0018812 MSH3-related attenuated familial adenomatous polyposis 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Non-syndromic genetic deafness' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Lethal ataxia with deafness and optic atrophy' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Charcot-Marie-Tooth disease' 'PRPS1 deficiency disorder' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100069 hearing impairment and infertile male syndrome 'hearing impairment and infertile male syndrome' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5 disorder 'CDKL5 disorder' SubClassOf 'Motor stereotypies' 'CDKL5 disorder' SubClassOf 'X-linked syndromic intellectual disability' 'CDKL5 disorder' SubClassOf 'pervasive developmental disorder' 'CDKL5 disorder' SubClassOf 'X-linked complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'Monogenic disease with epilepsy' 'FOXG1 disorder' SubClassOf 'syndromic intellectual disability' 'FOXG1 disorder' SubClassOf 'disease has feature' some 'epilepsy' 'FOXG1 disorder' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0012662 Usher syndrome type 2D 'Usher syndrome type 2D' SubClassOf 'Usher syndrome type 2' http://purl.obolibrary.org/obo/MONDO_0012670 autosomal recessive nonsyndromic deafness 63 'autosomal recessive nonsyndromic deafness 63' SubClassOf 'autosomal recessive nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0024525 FRTS1 'FRTS1' SubClassOf 'Primary Fanconi syndrome' http://www.ebi.ac.uk/efo/EFO_0010804 vascular endothelial growth factor A measurement 'vascular endothelial growth factor A measurement' SubClassOf 'is_about' some 'blood' 'vascular endothelial growth factor A measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010802 tumor necrosis factor receptor superfamily member 9 measurement 'tumor necrosis factor receptor superfamily member 9 measurement' SubClassOf 'is_about' some 'blood' 'tumor necrosis factor receptor superfamily member 9 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010803 urokinase-type plasminogen activator measurement 'urokinase-type plasminogen activator measurement' SubClassOf 'is_about' some 'blood' 'urokinase-type plasminogen activator measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010800 tumor necrosis factor ligand superfamily member 10 measurement 'tumor necrosis factor ligand superfamily member 10 measurement' SubClassOf 'is_about' some 'blood' 'tumor necrosis factor ligand superfamily member 10 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010801 tumor necrosis factor ligand superfamily member 12 measurement 'tumor necrosis factor ligand superfamily member 12 measurement' SubClassOf 'blood protein measurement' 'tumor necrosis factor ligand superfamily member 12 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010730 response to bezlotoxumab 'response to bezlotoxumab' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010738 retinal dystrophy with leukodystrophy 'retinal dystrophy with leukodystrophy' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010739 epilepsy, early-onset, with or without developmental delay 'epilepsy, early-onset, with or without developmental delay' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010736 cortical surface area measurement 'cortical surface area measurement' SubClassOf 'brain measurement' 'cortical surface area measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0010737 autoinflammation with episodic fever and lymphadenopathy 'autoinflammation with episodic fever and lymphadenopathy' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010735 response to angiotensin receptor blocker 'response to angiotensin receptor blocker' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010729 sun exposure measurement 'sun exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0010723 ocular sarcoidosis 'ocular sarcoidosis' SubClassOf 'has_disease_location' some ('eye' or ('part of' some 'eye')) 'ocular sarcoidosis' SubClassOf 'eye disease' 'ocular sarcoidosis' SubClassOf 'Sarcoidosis' http://www.ebi.ac.uk/efo/EFO_0010724 lifestyle measurement 'lifestyle measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010752 nucleotide sequence size 'nucleotide sequence size' SubClassOf 'single cell library information' http://www.ebi.ac.uk/efo/EFO_0010753 barcode read 'barcode read' SubClassOf 'single cell library information' http://www.ebi.ac.uk/efo/EFO_0010750 PHF-tau measurement 'PHF-tau measurement' SubClassOf 'is_about' some 'brain' 'PHF-tau measurement' SubClassOf 'brain measurement' 'PHF-tau measurement' SubClassOf 'Alzheimer's disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010751 nucleotide sequence offset 'nucleotide sequence offset' SubClassOf 'single cell library information' http://www.ebi.ac.uk/efo/EFO_0010758 anti-Kaposi's sarcoma-associated herpesvirus antibody measurement 'anti-Kaposi's sarcoma-associated herpesvirus antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010759 male reproductive system measurement 'male reproductive system measurement' SubClassOf 'is_about' some 'male reproductive system' 'male reproductive system measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010756 HL-60/S4 'HL-60/S4' SubClassOf 'derives_from' some ('lymphocyte' and ('part of' some ('blood' and ('part of' some 'Homo sapiens')))) 'HL-60/S4' SubClassOf 'HL-60' 'HL-60/S4' SubClassOf 'bearer_of' some 'Acute Leukemia' 'HL-60/S4' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0010757 response to diet 'response to diet' SubClassOf 'response to stimulus' http://www.ebi.ac.uk/efo/EFO_0010754 barcode offset 'barcode offset' SubClassOf 'nucleotide sequence offset' http://www.ebi.ac.uk/efo/EFO_0010755 barcode size 'barcode size' SubClassOf 'nucleotide sequence size' http://www.ebi.ac.uk/efo/EFO_0010741 nasal brush 'nasal brush' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0010742 protein binding measurement 'protein binding measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010740 Diets-Jongmans syndrome 'Diets-Jongmans syndrome' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010749 motor function measurement 'motor function measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010747 response to levodopa 'response to levodopa' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010748 response to zonisamide 'response to zonisamide' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010745 semen measurement 'semen measurement' SubClassOf 'is_about' some 'male reproductive system' 'semen measurement' SubClassOf 'male reproductive system measurement' http://www.ebi.ac.uk/efo/EFO_0010746 Inhibin B measurement 'Inhibin B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0010743 sperm measurement 'sperm measurement' SubClassOf 'is_about' some 'male reproductive system' 'sperm measurement' SubClassOf 'male reproductive system measurement' http://www.ebi.ac.uk/efo/EFO_0010744 testis size 'testis size' SubClassOf 'male reproductive system measurement' 'testis size' SubClassOf 'is_about' some 'testis' 'testis size' SubClassOf 'anthropometric measurement' http://www.ebi.ac.uk/efo/EFO_0010774 CD6 measurement 'CD6 measurement' SubClassOf 'blood protein measurement' 'CD6 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010775 colony stimulating factor 1 measurement 'colony stimulating factor 1 measurement' SubClassOf 'blood protein measurement' 'colony stimulating factor 1 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010772 CD244 measurement 'CD244 measurement' SubClassOf 'is_about' some 'blood' 'CD244 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010773 CD5 measurement 'CD5 measurement' SubClassOf 'is_about' some 'blood' 'CD5 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010770 CCL3 measurement 'CCL3 measurement' SubClassOf 'blood protein measurement' 'CCL3 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010778 CXCL10 measurement 'CXCL10 measurement' SubClassOf 'blood protein measurement' 'CXCL10 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010779 CXCL11 measurement 'CXCL11 measurement' SubClassOf 'blood protein measurement' 'CXCL11 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010776 CUB domain containing protein 1 measurement 'CUB domain containing protein 1 measurement' SubClassOf 'blood protein measurement' 'CUB domain containing protein 1 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010777 CXCL1 measurement 'CXCL1 measurement' SubClassOf 'is_about' some 'blood' 'CXCL1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010763 axin-1 measurement 'axin-1 measurement' SubClassOf 'is_about' some 'blood' 'axin-1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010764 caspase-8 measurement 'caspase-8 measurement' SubClassOf 'is_about' some 'blood' 'caspase-8 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010761 adenosine deaminase measurement 'adenosine deaminase measurement' SubClassOf 'blood protein measurement' 'adenosine deaminase measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010762 advanced glycosylation end product-specific receptor ligand measurement 'advanced glycosylation end product-specific receptor ligand measurement' SubClassOf 'blood protein measurement' 'advanced glycosylation end product-specific receptor ligand measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010760 4E-BP1 measurement '4E-BP1 measurement' SubClassOf 'blood protein measurement' '4E-BP1 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010769 CCL28 measurement 'CCL28 measurement' SubClassOf 'blood protein measurement' 'CCL28 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010768 CCL25 measurement 'CCL25 measurement' SubClassOf 'is_about' some 'blood' 'CCL25 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010766 CCL20 measurement 'CCL20 measurement' SubClassOf 'is_about' some 'blood' 'CCL20 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010796 STAM binding protein measurement 'STAM binding protein measurement' SubClassOf 'blood protein measurement' 'STAM binding protein measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010797 sulfotrasferase 1A1 measurement 'sulfotrasferase 1A1 measurement' SubClassOf 'is_about' some 'blood' 'sulfotrasferase 1A1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010794 signaling lymphocytic activation molecule 1 measurement 'signaling lymphocytic activation molecule 1 measurement' SubClassOf 'blood protein measurement' 'signaling lymphocytic activation molecule 1 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010795 sirtuin-2 measurement 'sirtuin-2 measurement' SubClassOf 'blood protein measurement' 'sirtuin-2 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010792 oncostatin-M measurement 'oncostatin-M measurement' SubClassOf 'blood protein measurement' 'oncostatin-M measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010793 programmed death-ligand 1 measurement 'programmed death-ligand 1 measurement' SubClassOf 'is_about' some 'blood' 'programmed death-ligand 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010790 monocyte chemotactic protein-4 measurement 'monocyte chemotactic protein-4 measurement' SubClassOf 'is_about' some 'blood' 'monocyte chemotactic protein-4 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010791 neurotrophin-3 measurement 'neurotrophin-3 measurement' SubClassOf 'is_about' some 'blood' 'neurotrophin-3 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010798 transforming growth factor-alpha measurement 'transforming growth factor-alpha measurement' SubClassOf 'is_about' some 'blood' 'transforming growth factor-alpha measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010799 transforming growth factor-beta measurement 'transforming growth factor-beta measurement' SubClassOf 'blood protein measurement' 'transforming growth factor-beta measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010785 fms related receptor tyrosine kinase-3 ligand measurement 'fms related receptor tyrosine kinase-3 ligand measurement' SubClassOf 'is_about' some 'blood' 'fms related receptor tyrosine kinase-3 ligand measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010786 interleukin-10 receptor B measurement 'interleukin-10 receptor B measurement' SubClassOf 'blood protein measurement' 'interleukin-10 receptor B measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010783 fibroblast growth factor 21 measurement 'fibroblast growth factor 21 measurement' SubClassOf 'blood protein measurement' 'fibroblast growth factor 21 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010784 fibroblast growth factor 5 measurement 'fibroblast growth factor 5 measurement' SubClassOf 'is_about' some 'blood' 'fibroblast growth factor 5 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010781 delta/notch like EGF Repeat Containing protein measurement 'delta/notch like EGF Repeat Containing protein measurement' SubClassOf 'blood protein measurement' 'delta/notch like EGF Repeat Containing protein measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010782 fibroblast growth factor 19 measurement 'fibroblast growth factor 19 measurement' SubClassOf 'is_about' some 'blood' 'fibroblast growth factor 19 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010780 CXCL9 measurement 'CXCL9 measurement' SubClassOf 'blood protein measurement' 'CXCL9 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010789 monocyte chemotactic protein-2 measurement 'monocyte chemotactic protein-2 measurement' SubClassOf 'blood protein measurement' 'monocyte chemotactic protein-2 measurement' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010787 interleukin-12 subunit B measurement 'interleukin-12 subunit B measurement' SubClassOf 'is_about' some 'blood' 'interleukin-12 subunit B measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010788 leukemia inhibitory factor receptor measurement 'leukemia inhibitory factor receptor measurement' SubClassOf 'is_about' some 'blood' 'leukemia inhibitory factor receptor measurement' SubClassOf 'blood protein measurement' http://purl.obolibrary.org/obo/MONDO_0014919 sessile serrated polyposis cancer syndrome 'sessile serrated polyposis cancer syndrome' SubClassOf 'Hyperplastic polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0014993 myofibrillar myopathy 8 'myofibrillar myopathy 8' SubClassOf 'Myofibrillar myopathy' http://www.ebi.ac.uk/efo/EFO_0010718 response to amisulpride 'response to amisulpride' SubClassOf 'response to antipsychotic drug' http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0014805 16p13.2 microdeletion syndrome '16p13.2 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '16p13.2 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '16p13.2 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '16p13.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' '16p13.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0014809 DDX41-related hematologic malignancy predisposition syndrome 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0014853 autosomal dominant nonsyndromic deafness 70 'autosomal dominant nonsyndromic deafness 70' SubClassOf 'autosomal dominant nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0014885 Hermansky-Pudlak syndrome 10 'Hermansky-Pudlak syndrome 10' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Congenital myopathy' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0012112 hypertrophic cardiomyopathy 10 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'autosomal dominant disease' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'Rare genetic neurological disorder' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014603 autosomal dominant nonsyndromic deafness 40 'autosomal dominant nonsyndromic deafness 40' SubClassOf 'autosomal dominant nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0000030 epilepsy, nocturnal frontal lobe 'epilepsy, nocturnal frontal lobe' SubClassOf 'frontal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0009703 myopathy with abnormal lipid metabolism 'myopathy with abnormal lipid metabolism' SubClassOf 'Muscular lipidosis' http://purl.obolibrary.org/obo/MONDO_0009709 myopathy, centronuclear, 2 'myopathy, centronuclear, 2' SubClassOf 'Autosomal recessive centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome, X-linked 'Aarskog-Scott syndrome, X-linked' SubClassOf 'Milroy disease' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'X-linked disease' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'Syndromic lymphedema' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'faciodigitogenital syndrome' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'Hereditary breast and ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0009374 hydroxyprolinemia (disease) 'hydroxyprolinemia (disease)' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012804 hypertrophic cardiomyopathy 12 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0009206 factor V and factor VIII, combined deficiency of, type 1 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf 'Combined deficiency of factor V and factor VIII' http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C 'Fanconi anemia complementation group C' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0010256 intellectual disability, X-linked 21 'intellectual disability, X-linked 21' SubClassOf 'X-linked non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010266 intellectual disability, X-linked 58 'intellectual disability, X-linked 58' SubClassOf 'X-linked non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030118 silver-russell syndrome 4 'silver-russell syndrome 4' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0020795 Silver-Russell syndrome 5 'Silver-Russell syndrome 5' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0020798 hypoparathyroidism, familial isolated, 2 'hypoparathyroidism, familial isolated, 2' SubClassOf 'Familial isolated hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 'galactosemia 4' SubClassOf 'Galactosemia' http://purl.obolibrary.org/obo/MONDO_0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'Syndromic genetic deafness' 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0030019 anauxetic dysplasia 3 'anauxetic dysplasia 3' SubClassOf 'Anauxetic dysplasia' http://purl.obolibrary.org/obo/MONDO_0030015 bone marrow failure syndrome 6 'bone marrow failure syndrome 6' SubClassOf 'bone marrow failure syndrome' http://purl.obolibrary.org/obo/MONDO_0030017 combined oxidative phosphorylation deficiency 43 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030013 immunodeficiency 66 'immunodeficiency 66' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030008 combined oxidative phosphorylation deficiency 42 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030004 autism, susceptibility to, 20 'autism, susceptibility to, 20' SubClassOf 'predisposes towards' some 'autism' 'autism, susceptibility to, 20' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0030007 combined oxidative phosphorylation deficiency 41 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030006 combined oxidative phosphorylation deficiency 40 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030038 glaucoma, primary closed-angle 'glaucoma, primary closed-angle' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030034 epilepsy, progressive myoclonic, 11 'epilepsy, progressive myoclonic, 11' SubClassOf 'Progressive myoclonic epilepsy' http://purl.obolibrary.org/obo/MONDO_0030033 seizures, early-onset, with neurodegeneration and brain calcifications 'seizures, early-onset, with neurodegeneration and brain calcifications' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 'leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 'leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030030 Nizon-Isidor syndrome 'Nizon-Isidor syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030031 lissencephaly 10 'lissencephaly 10' SubClassOf 'Lissencephaly' http://purl.obolibrary.org/obo/MONDO_0030027 tremor, hereditary essential, 6 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age 'skeletal dysplasia, mild, with joint laxity and advanced bone age' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030020 combined oxidative phosphorylation deficiency 44 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030059 epileptic encephalopathy, early infantile, 87 'epileptic encephalopathy, early infantile, 87' SubClassOf 'Early infantile epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy 'sorbitol dehydrogenase deficiency with peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030058 deafness, autosomal dominant 77 'deafness, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0030057 neurodevelopmental, jaw, eye, and digital syndrome 'neurodevelopmental, jaw, eye, and digital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures 'intellectual developmental disorder with autistic features and language delay, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030054 epileptic encephalopathy, early infantile, 86 'epileptic encephalopathy, early infantile, 86' SubClassOf 'Early infantile epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030049 46,xx sex reversal 5 '46,xx sex reversal 5' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030048 harderoporphyria 'harderoporphyria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030045 Liberfarb syndrome 'Liberfarb syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030044 pseudo-torch syndrome 3 'pseudo-torch syndrome 3' SubClassOf 'Congenital intrauterine infection-like syndrome' http://purl.obolibrary.org/obo/MONDO_0030047 microcephaly, developmental delay, and brittle hair syndrome 'microcephaly, developmental delay, and brittle hair syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030043 congenital disorder of glycosylation, type iit 'congenital disorder of glycosylation, type iit' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0030042 proteinuria, chronic benign 'proteinuria, chronic benign' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030061 periventricular nodular heterotopia 9 'periventricular nodular heterotopia 9' SubClassOf 'Periventricular nodular heterotopia' http://purl.obolibrary.org/obo/MONDO_0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030062 arrhythmogenic right ventricular dysplasia, familial, 14 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'Arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 'agenesis of corpus callosum, cardiac, ocular, and genital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030089 diabetes mellitus, permanent neonatal 4 'diabetes mellitus, permanent neonatal 4' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0030088 diabetes mellitus, permanent neonatal 3 'diabetes mellitus, permanent neonatal 3' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0030087 diabetes mellitus, permanent neonatal 2 'diabetes mellitus, permanent neonatal 2' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0007585 exostoses, multiple, type 1 'exostoses, multiple, type 1' SubClassOf 'Multiple osteochondromas' http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 'exostoses, multiple, type 2' SubClassOf 'Multiple osteochondromas' http://purl.obolibrary.org/obo/MONDO_0010967 autosomal recessive nonsyndromic deafness 7 'autosomal recessive nonsyndromic deafness 7' SubClassOf 'autosomal recessive nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic deafness 9 'autosomal recessive nonsyndromic deafness 9' SubClassOf 'autosomal recessive nonsyndromic deafness' 'autosomal recessive nonsyndromic deafness 9' SubClassOf 'auditory neuropathy' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'neuroblastoma' http://purl.obolibrary.org/obo/HP_0033006 Diffuse alveolar damage 'Diffuse alveolar damage' SubClassOf 'Abnormal lung morphology' http://purl.obolibrary.org/obo/MONDO_0015006 generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss 'generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss' SubClassOf 'autosomal dominant disease' 'generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss' SubClassOf 'Basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0015023 MYPN-related myopathy 'MYPN-related myopathy' SubClassOf 'Nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a 'Bartter disease type 4a' SubClassOf 'Infantile Bartter syndrome with sensorineural deafness' http://purl.obolibrary.org/obo/MONDO_0023069 enlarged vestibular aqueduct syndrome 'enlarged vestibular aqueduct syndrome' SubClassOf 'syndromic disease' 'enlarged vestibular aqueduct syndrome' SubClassOf 'skull disorder' 'enlarged vestibular aqueduct syndrome' SubClassOf 'inner ear disease' http://purl.obolibrary.org/obo/MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'isolated constitutional thrombocytopenia' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Dense granule disease' http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-Related Myopathy 'MEGF10-Related Myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0001627 dementia (disease) 'dementia (disease)' SubClassOf 'cognitive disorder' http://purl.obolibrary.org/obo/MONDO_0013477 hypertrophic cardiomyopathy 20 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013474 hypertrophic cardiomyopathy 17 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0025445 Wieacker-Wolff syndrome (spectrum) 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'Genetic skeletal muscle disease' 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'Arthrogryposis multiplex congenita' 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0027751 serpinopathy with loss of serpin function 'serpinopathy with loss of serpin function' SubClassOf 'serpinopathy' http://purl.obolibrary.org/obo/MONDO_0013187 factor XIII, A subunit, deficiency of 'factor XIII, A subunit, deficiency of' SubClassOf 'Congenital factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0018719 rare capillary malformation with associated anomalies 'rare capillary malformation with associated anomalies' SubClassOf 'has modifier' some 'rare' 'rare capillary malformation with associated anomalies' SubClassOf 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0018797 genetic cardiac malformation 'genetic cardiac malformation' SubClassOf 'has modifier' some 'rare' 'genetic cardiac malformation' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0000275 monogenic disease 'monogenic disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002510 germ cell and embryonal cancer 'germ cell and embryonal cancer' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0007117 angioedema, hereditary, type 1/2 'angioedema, hereditary, type 1/2' SubClassOf 'serpinopathy' 'angioedema, hereditary, type 1/2' SubClassOf 'Hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0020136 neurodegenerative disease with dementia 'neurodegenerative disease with dementia' SubClassOf 'cognitive disorder' 'neurodegenerative disease with dementia' SubClassOf 'neurodegenerative disease' 'neurodegenerative disease with dementia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010666 Miles-Carpenter syndrome 'Miles-Carpenter syndrome' SubClassOf 'congenital nervous system disorder' 'Miles-Carpenter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Miles-Carpenter syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020006 rare hematologic disease 'rare hematologic disease' SubClassOf 'has modifier' some 'rare' 'rare hematologic disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0001018 lymphoblastic leukemia 'lymphoblastic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0003685 retroperitoneal germ cell neoplasm 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' 'retroperitoneal germ cell neoplasm' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003750 childhood central nervous system germ cell tumor 'childhood central nervous system germ cell tumor' SubClassOf 'central nervous system germ cell tumor' 'childhood central nervous system germ cell tumor' SubClassOf 'childhood germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0015881 rare gastroesophageal tumor 'rare gastroesophageal tumor' SubClassOf 'gastroesophageal disease' 'rare gastroesophageal tumor' SubClassOf 'digestive system neoplasm'