113 59 3 http://purl.obolibrary.org/obo/MONDO_0021490 benign neoplasm of sebaceous gland 'benign neoplasm of sebaceous gland' SubClassOf 'benign neoplasm of skin' 'benign neoplasm of sebaceous gland' SubClassOf 'sebaceous gland neoplasm' http://www.orpha.net/ORDO/Orphanet_263440 Neuroacanthocytosis 'Neuroacanthocytosis' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia (disease)' http://purl.obolibrary.org/obo/HP_0100749 Chest pain 'Chest pain' SubClassOf 'Abnormality of the thorax' http://purl.obolibrary.org/obo/MONDO_0060729 protoporphyria, erythropoietic, 2 'protoporphyria, erythropoietic, 2' SubClassOf 'Erythropoietic protoporphyria' 'protoporphyria, erythropoietic, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019263 http://purl.obolibrary.org/obo/HP_0002120 Cerebral cortical atrophy 'Cerebral cortical atrophy' SubClassOf 'Brain atrophy' 'Cerebral cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0002059 http://www.ebi.ac.uk/efo/EFO_0009482 drug allergy 'drug allergy' SubClassOf 'chemically-induced disorder' http://www.orpha.net/ORDO/Orphanet_275872 Frontotemporal dementia with motor neuron disease 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic neurodegenerative disease' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic dementia' http://www.orpha.net/ORDO/Orphanet_1020 Early-onset autosomal dominant Alzheimer disease 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia (disease)' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/HP_0002280 Enlarged cisterna magna 'Enlarged cisterna magna' SubClassOf 'Ventriculomegaly' 'Enlarged cisterna magna' SubClassOf 'Abnormality of the posterior cranial fossa' http://www.orpha.net/ORDO/Orphanet_280679 Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Moyamoya syndrome' http://purl.obolibrary.org/obo/MONDO_0018792 Moyamoya syndrome 'Moyamoya syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya syndrome' SubClassOf 'Moyomoya angiopathy' http://purl.obolibrary.org/obo/MONDO_0018630 hereditary nonpolyposis colon cancer 'hereditary nonpolyposis colon cancer' SubClassOf 'Genetic digestive tract tumor' 'hereditary nonpolyposis colon cancer' SubClassOf 'familial colorectal cancer' http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf 'Dementia' 'AIDS dementia' SubClassOf 'HIV-associated neurocognitive disorder' 'AIDS dementia' SubClassOf 'disease has feature' some 'HIV-associated neurocognitive disorder' http://purl.obolibrary.org/obo/HP_0002910 Elevated hepatic transaminase 'Elevated hepatic transaminase' SubClassOf 'Abnormality of the liver' 'Elevated hepatic transaminase' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development 'Delayed speech and language development' SubClassOf 'Neurodevelopmental abnormality' 'Delayed speech and language development' SubClassOf http://purl.obolibrary.org/obo/HP_0012758 http://www.orpha.net/ORDO/Orphanet_401901 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia (disease)' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Genetic neurodegenerative disease with dementia' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'chemically-induced disorder' http://www.orpha.net/ORDO/Orphanet_401945 Moyamoya disease with early-onset achalasia 'Moyamoya disease with early-onset achalasia' SubClassOf 'Moyamoya syndrome' http://purl.obolibrary.org/obo/CL_0001008 Kit and Sca1-positive hematopoietic stem cell 'Kit and Sca1-positive hematopoietic stem cell' DisjointWith 'CD34-positive, CD38-negative hematopoietic stem cell' http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor 'CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor' EquivalentTo 'granulocyte monocyte progenitor cell' or 'CD7-negative lymphoid progenitor cell' http://purl.obolibrary.org/obo/CL_0001019 CD115-positive monocyte OR common dendritic progenitor 'CD115-positive monocyte OR common dendritic progenitor' EquivalentTo 'CD115-positive monocyte' or 'common dendritic progenitor' 'CD115-positive monocyte OR common dendritic progenitor' SubClassOf 'myeloid cell' http://purl.obolibrary.org/obo/CL_0001023 Kit-positive, CD34-positive common myeloid progenitor 'Kit-positive, CD34-positive common myeloid progenitor' DisjointWith 'CD34-positive, CD38-positive common myeloid progenitor' http://purl.obolibrary.org/obo/CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor 'CD34-positive, CD38-positive common lymphoid progenitor' DisjointWith 'Kit-positive, Sca1-positive common lymphoid progenitor' http://purl.obolibrary.org/obo/CL_0001026 CD34-positive, CD38-positive common myeloid progenitor 'Kit-positive, CD34-positive common myeloid progenitor' DisjointWith 'CD34-positive, CD38-positive common myeloid progenitor' http://purl.obolibrary.org/obo/CL_0001025 Kit-positive, Sca1-positive common lymphoid progenitor 'CD34-positive, CD38-positive common lymphoid progenitor' DisjointWith 'Kit-positive, Sca1-positive common lymphoid progenitor' http://purl.obolibrary.org/obo/CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell 'Kit and Sca1-positive hematopoietic stem cell' DisjointWith 'CD34-positive, CD38-negative hematopoietic stem cell' http://purl.obolibrary.org/obo/CL_0001029 common dendritic progenitor 'common dendritic progenitor' SubClassOf 'myeloid cell' http://purl.obolibrary.org/obo/CL_0001030 CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor 'CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor' EquivalentTo 'Kit-positive, CD34-positive common myeloid progenitor' or 'Kit-positive, Sca1-positive common lymphoid progenitor' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'Moyamoya syndrome' 'familial chilblain lupus' SubClassOf 'autoimmune disease of the nervous system' http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf 'Moyamoya syndrome' 'Chilblain lupus' SubClassOf 'autoimmune disease of the nervous system' http://www.orpha.net/ORDO/Orphanet_3071 Costello syndrome 'Costello syndrome' SubClassOf 'Moyamoya syndrome' http://www.orpha.net/ORDO/Orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/CHEBI_15882 phenol 'phenol' SubClassOf 'chemical entity' 'phenol' SubClassOf http://purl.obolibrary.org/obo/CHEBI_33853 http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Moyamoya syndrome' http://purl.obolibrary.org/obo/MONDO_0020141 infectious disease with dementia 'infectious disease with dementia' SubClassOf 'has modifier' some 'rare' 'infectious disease with dementia' SubClassOf 'infectious disease' 'infectious disease with dementia' SubClassOf 'dementia (disease)' http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf 'infectious disease with dementia' 'postencephalitic Parkinson disease' SubClassOf 'central nervous system infection' 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia (disease)' http://www.orpha.net/ORDO/Orphanet_2102 GTP cyclohydrolase I deficiency 'GTP cyclohydrolase I deficiency' SubClassOf 'Hyperphenylalaninemia' 'GTP cyclohydrolase I deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'GTP cyclohydrolase I deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'GTP cyclohydrolase I deficiency' SubClassOf 'Hyperphenylalaninemia' http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'vector-borne disease' 'Zika virus congenital syndrome' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/CL_0000738 leukocyte 'epithelial cell' DisjointWith 'leukocyte' http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte 'lymphocyte' DisjointWith 'myeloid leukocyte' http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell 'megakaryocyte' DisjointWith 'erythroid lineage cell' http://purl.obolibrary.org/obo/CL_0000785 mature B cell 'mature B cell' DisjointWith 'immature B cell' 'mature B cell' DisjointWith 'transitional stage B cell' 'mature B cell' DisjointWith 'precursor B cell' http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T cell 'alpha-beta T cell' DisjointWith 'gamma-delta T cell' http://purl.obolibrary.org/obo/CL_0000798 gamma-delta T cell 'alpha-beta T cell' DisjointWith 'gamma-delta T cell' http://www.orpha.net/ORDO/Orphanet_385 Neurodegeneration with brain iron accumulation 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia (disease)' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_399 Huntington disease 'Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' http://purl.obolibrary.org/obo/CL_0000818 transitional stage B cell 'mature B cell' DisjointWith 'transitional stage B cell' http://purl.obolibrary.org/obo/CL_0000817 precursor B cell 'precursor B cell' DisjointWith 'pro-B cell' 'mature B cell' DisjointWith 'precursor B cell' http://purl.obolibrary.org/obo/CL_0000816 immature B cell 'mature B cell' DisjointWith 'immature B cell' http://purl.obolibrary.org/obo/CL_0000813 memory T cell 'memory T cell' DisjointWith 'naive T cell' http://purl.obolibrary.org/obo/CL_0000826 pro-B cell 'precursor B cell' DisjointWith 'pro-B cell' http://purl.obolibrary.org/obo/CL_0000824 mature natural killer cell 'mature natural killer cell' DisjointWith 'CD56-positive, CD161-positive immature natural killer cell' 'mature natural killer cell' DisjointWith 'CD56-negative, CD161-positive immature natural killer cell' 'immature natural killer cell' DisjointWith 'mature natural killer cell' http://purl.obolibrary.org/obo/CL_0000823 immature natural killer cell 'immature natural killer cell' DisjointWith 'pre-natural killer cell' 'immature natural killer cell' DisjointWith 'mature natural killer cell' http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell 'lymphoid lineage restricted progenitor cell' DisjointWith 'myeloid lineage restricted progenitor cell' http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell 'lymphoid lineage restricted progenitor cell' DisjointWith 'myeloid lineage restricted progenitor cell' http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell 'hematopoietic multipotent progenitor cell' DisjointWith 'hematopoietic oligopotent progenitor cell' http://purl.obolibrary.org/obo/CL_0000898 naive T cell 'memory T cell' DisjointWith 'naive T cell' http://www.orpha.net/ORDO/Orphanet_232 Sickle cell anemia 'Sickle cell anemia' SubClassOf 'Moyamoya syndrome' http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay 'Global developmental delay' SubClassOf 'Neurodevelopmental abnormality' 'Global developmental delay' SubClassOf http://purl.obolibrary.org/obo/HP_0012758 http://purl.obolibrary.org/obo/HP_0001270 Motor delay 'Motor delay' SubClassOf 'Neurodevelopmental abnormality' 'Motor delay' SubClassOf http://purl.obolibrary.org/obo/HP_0012758 http://www.orpha.net/ORDO/Orphanet_282 Frontotemporal dementia 'Frontotemporal dementia' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Frontotemporal dementia' SubClassOf 'Genetic dementia' 'Frontotemporal dementia' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/CL_0000939 CD16-positive, CD56-dim natural killer cell 'CD16-negative, CD56-bright natural killer cell' DisjointWith 'CD16-positive, CD56-dim natural killer cell' http://purl.obolibrary.org/obo/CL_0000938 CD16-negative, CD56-bright natural killer cell 'CD16-negative, CD56-bright natural killer cell' DisjointWith 'CD16-positive, CD56-dim natural killer cell' http://purl.obolibrary.org/obo/CL_0000937 pre-natural killer cell 'pre-natural killer cell' DisjointWith 'CD56-negative, CD161-positive immature natural killer cell' 'pre-natural killer cell' DisjointWith 'CD56-positive, CD161-positive immature natural killer cell' 'immature natural killer cell' DisjointWith 'pre-natural killer cell' http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage 'T cell' DisjointWith 'lymphocyte of B lineage' http://purl.obolibrary.org/obo/CL_0000956 pre-B-I cell 'pre-B-II cell' DisjointWith 'pre-B-I cell' http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell 'pre-B-II cell' DisjointWith 'pre-B-I cell' http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor 'CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor' EquivalentTo 'CD34-positive, CD38-positive common lymphoid progenitor' or 'CD34-positive, CD38-positive common myeloid progenitor' http://www.orpha.net/ORDO/Orphanet_587 Muir-Torre syndrome 'Muir-Torre syndrome' SubClassOf 'benign tumor of palpebral epidermis' 'Muir-Torre syndrome' SubClassOf 'Palpebral sebaceous gland tumor' 'Muir-Torre syndrome' SubClassOf 'Rare genetic neurological disorder' 'Muir-Torre syndrome' SubClassOf 'Lynch syndrome' 'Muir-Torre syndrome' SubClassOf 'Genetic skin tumor' 'Muir-Torre syndrome' SubClassOf 'benign neoplasm of sebaceous gland' 'Muir-Torre syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' 'Muir-Torre syndrome' SubClassOf 'Palpebral sebaceous gland tumor' 'Muir-Torre syndrome' SubClassOf 'skin carcinoma' 'Muir-Torre syndrome' SubClassOf 'Genetic skin tumor' 'Muir-Torre syndrome' SubClassOf 'Lynch syndrome' http://www.orpha.net/ORDO/Orphanet_597 Central core disease 'Central core disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100196 http://purl.obolibrary.org/obo/MONDO_0017234 inherited prion disease 'inherited prion disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'inherited prion disease' SubClassOf 'infectious disease with dementia' 'inherited prion disease' SubClassOf 'Genetic dementia' 'inherited prion disease' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'Moyamoya syndrome' 'Noonan syndrome' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Progressive supranuclear palsy' SubClassOf 'Genetic dementia' 'Progressive supranuclear palsy' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001992 Scapuloperoneal spinal muscular atrophy 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'motor neuron disease' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'Moyamoya syndrome' 'Turner syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2924 Isolated polycystic liver disease 'Isolated polycystic liver disease' EquivalentTo 'autosomal dominant polycystic liver disease' and ('has modifier' some 'has an isolated presentation') http://www.orpha.net/ORDO/Orphanet_276058 Genetic neurodegenerative disease with dementia 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic dementia' 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic neurodegenerative disease' 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic dementia' 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/HP_0001636 Tetralogy of Fallot 'Tetralogy of Fallot' SubClassOf 'Abnormal heart morphology' 'Tetralogy of Fallot' SubClassOf 'Abnormality of the vasculature' 'Tetralogy of Fallot' SubClassOf http://purl.obolibrary.org/obo/HP_0001710 http://purl.obolibrary.org/obo/CL_0000451 dendritic cell 'dendritic cell' DisjointWith 'lymphocyte' http://purl.obolibrary.org/obo/CL_0000542 lymphocyte 'lymphocyte' DisjointWith 'myeloid leukocyte' 'dendritic cell' DisjointWith 'lymphocyte' http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell 'megakaryocyte-erythroid progenitor cell' DisjointWith 'granulocyte monocyte progenitor cell' 'common myeloid progenitor' DisjointWith 'granulocyte monocyte progenitor cell' http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte 'megakaryocyte' DisjointWith 'erythroid lineage cell' http://purl.obolibrary.org/obo/CL_0000624 CD4-positive, alpha-beta T cell 'CD4-positive, alpha-beta T cell' DisjointWith 'CD8-positive, alpha-beta T cell' http://purl.obolibrary.org/obo/CL_0000623 natural killer cell 'T cell' DisjointWith 'natural killer cell' http://purl.obolibrary.org/obo/CL_0000625 CD8-positive, alpha-beta T cell 'CD4-positive, alpha-beta T cell' DisjointWith 'CD8-positive, alpha-beta T cell' http://www.orpha.net/ORDO/Orphanet_30925 Hereditary central diabetes insipidus 'Hereditary central diabetes insipidus' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/CL_0000049 common myeloid progenitor 'common myeloid progenitor' DisjointWith 'megakaryocyte-erythroid progenitor cell' 'common myeloid progenitor' DisjointWith 'common lymphoid progenitor' 'common myeloid progenitor' DisjointWith 'granulocyte monocyte progenitor cell' http://purl.obolibrary.org/obo/CL_0000051 common lymphoid progenitor 'common myeloid progenitor' DisjointWith 'common lymphoid progenitor' http://purl.obolibrary.org/obo/CL_0000050 megakaryocyte-erythroid progenitor cell 'megakaryocyte-erythroid progenitor cell' DisjointWith 'granulocyte monocyte progenitor cell' 'common myeloid progenitor' DisjointWith 'megakaryocyte-erythroid progenitor cell' 'megakaryocyte-erythroid progenitor cell' DisjointWith 'macrophage dendritic cell progenitor' http://purl.obolibrary.org/obo/CL_0000066 epithelial cell 'epithelial cell' DisjointWith 'leukocyte' http://purl.obolibrary.org/obo/CL_0000084 T cell 'T cell' DisjointWith 'lymphocyte of B lineage' 'T cell' DisjointWith 'natural killer cell' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'Dementia' 'Lewy body dementia' SubClassOf 'inheres_in' some 'brain' 'Lewy body dementia' SubClassOf 'disease has feature' some 'Dementia' http://purl.obolibrary.org/obo/CHEBI_31991 phenol red 'phenol red' SubClassOf 'chemical entity' 'phenol red' SubClassOf http://purl.obolibrary.org/obo/CHEBI_33853 http://www.ebi.ac.uk/efo/EFO_0004228 drug-induced liver injury 'drug-induced liver injury' SubClassOf 'chemically-induced disorder' http://purl.obolibrary.org/obo/CL_0002338 CD56-positive, CD161-positive immature natural killer cell 'mature natural killer cell' DisjointWith 'CD56-positive, CD161-positive immature natural killer cell' 'pre-natural killer cell' DisjointWith 'CD56-positive, CD161-positive immature natural killer cell' http://purl.obolibrary.org/obo/CL_0002344 CD56-negative, CD161-positive immature natural killer cell 'pre-natural killer cell' DisjointWith 'CD56-negative, CD161-positive immature natural killer cell' 'mature natural killer cell' DisjointWith 'CD56-negative, CD161-positive immature natural killer cell' http://purl.obolibrary.org/obo/CL_0002347 CD27-high, CD11b-high natural killer cell 'CD27-high, CD11b-high natural killer cell' SubClassOf 'CD11b-positive, CD27-positive natural killer cell' 'CD27-high, CD11b-high natural killer cell' SubClassOf 'mature natural killer cell' http://purl.obolibrary.org/obo/CL_0002348 CD27-low, CD11b-high natural killer cell 'CD27-low, CD11b-high natural killer cell' SubClassOf 'CD11b-positive, CD27-positive natural killer cell' 'CD27-low, CD11b-high natural killer cell' SubClassOf 'mature natural killer cell' http://purl.obolibrary.org/obo/CL_0002349 CD27-high, CD11b-low natural killer cell 'CD27-high, CD11b-low natural killer cell' SubClassOf 'CD11b-positive, CD27-positive natural killer cell' 'CD27-high, CD11b-low natural killer cell' SubClassOf 'mature natural killer cell' http://purl.obolibrary.org/obo/CL_0002442 CD94-negative, Ly49CI-negative natural killer cell 'CD94-negative, Ly49CI-negative natural killer cell' SubClassOf 'CD94-negative natural killer cell' 'CD94-negative, Ly49CI-negative natural killer cell' SubClassOf 'Ly49CI-negative natural killer cell' 'CD94-negative, Ly49CI-negative natural killer cell' SubClassOf 'natural killer cell' http://www.orpha.net/ORDO/Orphanet_98538 Ataxia with dementia 'Ataxia with dementia' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Ataxia with dementia' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Ataxia with dementia' SubClassOf 'disease has major feature' some 'dementia (disease)' 'Ataxia with dementia' SubClassOf 'Genetic neurodegenerative disease' 'Ataxia with dementia' SubClassOf 'Genetic dementia' http://purl.obolibrary.org/obo/MONDO_0013850 periodic fever, menstrual cycle-dependent 'periodic fever, menstrual cycle-dependent' SubClassOf 'genetic disorder' 'periodic fever, menstrual cycle-dependent' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_2020 Congenital fiber-type disproportion myopathy 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100196 http://purl.obolibrary.org/obo/CL_0002009 macrophage dendritic cell progenitor 'megakaryocyte-erythroid progenitor cell' DisjointWith 'macrophage dendritic cell progenitor' http://purl.obolibrary.org/obo/CL_0002036 Slamf1-positive multipotent progenitor cell 'Slamf1-positive multipotent progenitor cell' DisjointWith 'CD34-positive, CD38-negative multipotent progenitor cell' http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell 'hematopoietic multipotent progenitor cell' DisjointWith 'hematopoietic oligopotent progenitor cell' 'hematopoietic lineage restricted progenitor cell' DisjointWith 'hematopoietic oligopotent progenitor cell' http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell 'hematopoietic lineage restricted progenitor cell' DisjointWith 'hematopoietic oligopotent progenitor cell' http://purl.obolibrary.org/obo/CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell 'Slamf1-positive multipotent progenitor cell' DisjointWith 'CD34-positive, CD38-negative multipotent progenitor cell' http://purl.obolibrary.org/obo/HP_0006515 Interstitial pneumonitis 'Interstitial pneumonitis' SubClassOf 'Abnormal lung morphology' 'Interstitial pneumonitis' SubClassOf http://purl.obolibrary.org/obo/HP_0006530 http://purl.obolibrary.org/obo/MONDO_0001423 drug-induced mental disorder 'drug-induced mental disorder' SubClassOf 'chemically-induced disorder' http://purl.obolibrary.org/obo/HP_0006467 Limited shoulder movement 'Limited shoulder movement' SubClassOf 'Abnormality of the thorax' 'Limited shoulder movement' SubClassOf 'Abnormality of the skeletal system' http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'Thyrotoxic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0008210 patterned macular dystrophy 1 'patterned macular dystrophy 1' SubClassOf 'Butterfly-shaped pigment dystrophy' http://purl.obolibrary.org/obo/HP_0002059 Cerebral atrophy 'Cerebral atrophy' SubClassOf 'Brain atrophy' http://purl.obolibrary.org/obo/CHEBI_33853 phenols 'phenols' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000580 Pigmentary retinopathy 'Pigmentary retinopathy' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay 'Neurodevelopmental delay' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/MONDO_0100194 pregnancy associated osteoporosis 'pregnancy associated osteoporosis' SubClassOf 'osteoporosis' 'pregnancy associated osteoporosis' SubClassOf 'pregnancy disorder' 'pregnancy associated osteoporosis' EquivalentTo 'osteoporosis' and 'pregnancy disorder' http://purl.obolibrary.org/obo/MONDO_0100196 TPM2-related myopathy 'TPM2-related myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'TPM2-related myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'Hyperphenylalaninemia' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'GTP cyclohydrolase I deficiency' http://purl.obolibrary.org/obo/MONDO_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'Isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'Metabolic disease with pigmentary retinitis' 'ocular cystinosis' SubClassOf 'Metabolic disease with corneal opacity' 'ocular cystinosis' SubClassOf 'Cystinosis' http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'Spondyloepimetaphyseal dysplasia with joint laxity' http://purl.obolibrary.org/obo/MONDO_0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'Pachydermoperiostosis' http://www.ebi.ac.uk/efo/EFO_0010819 clonal hematopoiesis 'clonal hematopoiesis' SubClassOf 'precancerous condition' 'clonal hematopoiesis' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0010817 self-injurious ideation 'self-injurious ideation' SubClassOf 'Self-injurious behavior' http://www.ebi.ac.uk/efo/EFO_0010818 sensory perception of dietary content 'sensory perception of dietary content' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0010816 dietary fat liking measurement 'dietary fat liking measurement' SubClassOf 'taste liking measurement' http://www.ebi.ac.uk/efo/EFO_0010828 myofibrillar myopathy 9 with early respiratory failure 'myofibrillar myopathy 9 with early respiratory failure' SubClassOf 'Myofibrillar myopathy' http://www.ebi.ac.uk/efo/EFO_0010826 cystine urolithiasis 'cystine urolithiasis' SubClassOf 'urolithiasis' http://www.ebi.ac.uk/efo/EFO_0010824 response to rhododendrol 'response to rhododendrol' SubClassOf 'is_about' some '4-(4-Hydroxyphenyl)-2-butanol' 'response to rhododendrol' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010825 response to fluoropyrimidines 'response to fluoropyrimidines' SubClassOf 'response to antimetabolite' http://www.ebi.ac.uk/efo/EFO_0010822 stenosing tenosynovitis 'stenosing tenosynovitis' SubClassOf 'tenosynovitis' http://www.ebi.ac.uk/efo/EFO_0010820 spontaneous coronary artery dissection 'spontaneous coronary artery dissection' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_0010821 liver fat measurement 'liver fat measurement' SubClassOf 'liver disease biomarker' http://www.ebi.ac.uk/efo/EFO_0010725 aseptic loosening 'aseptic loosening' SubClassOf 'complication' http://www.ebi.ac.uk/efo/EFO_0010726 total joint arthroplasty 'total joint arthroplasty' SubClassOf 'medical procedure' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0026730 Basilicata-Akhtar syndrome 'Basilicata-Akhtar syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0026722 Mullegama-Klein-Martinez syndrome 'Mullegama-Klein-Martinez syndrome' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0007290 cataract 5 multiple types 'cataract 5 multiple types' SubClassOf 'Early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria 'autosomal erythropoietic protoporphyria' SubClassOf 'Erythropoietic protoporphyria' http://purl.obolibrary.org/obo/MONDO_0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf 'Otospondylomegaepiphyseal dysplasia' http://purl.obolibrary.org/obo/CHEBI_81278 4-(4-Hydroxyphenyl)-2-butanol '4-(4-Hydroxyphenyl)-2-butanol' SubClassOf 'phenols' http://purl.obolibrary.org/obo/MONDO_0012988 hypogonadotropic hypogonadism 6 with or without anosmia 'hypogonadotropic hypogonadism 6 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0012806 ectodermal dysplasia and immunodeficiency 2 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'Hypohidrotic ectodermal dysplasia with immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012868 thrombophilia due to protein S deficiency, autosomal dominant 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'Hereditary thrombophilia due to congenital protein S deficiency' 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010283 syndromic X-linked intellectual disability Lubs type 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'Partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0020850 intellectual disability, autosomal recessive 65 'intellectual disability, autosomal recessive 65' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020852 spermatogenic failure 31 'spermatogenic failure 31' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0020723 vitamin D-dependent rickets, type 1A 'vitamin D-dependent rickets, type 1A' SubClassOf 'Hypocalcemic vitamin D-dependent rickets' http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'hereditary ataxia' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Mitochondrial myopathy' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Rare genetic movement disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'congenital nervous system disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Genetic neurodegenerative disease' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Unspecified mitochondrial disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0032737 spastic paraplegia 80, autosomal dominant 'spastic paraplegia 80, autosomal dominant' SubClassOf 'Hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032751 arthrogryposis, distal, type 2b3 'arthrogryposis, distal, type 2b3' SubClassOf 'Distal arthrogryposis' 'arthrogryposis, distal, type 2b3' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032760 developmental delay with or without dysmorphic facies and autism 'developmental delay with or without dysmorphic facies and autism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032610 mitochondrial complex 1 deficiency, nuclear type 5 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'Isolated NADH-CoQ reductase deficiency' http://purl.obolibrary.org/obo/MONDO_0032677 lissencephaly 9 with complex brainstem malformation 'lissencephaly 9 with complex brainstem malformation' SubClassOf 'Lissencephaly' http://purl.obolibrary.org/obo/MONDO_0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome 'polymicrogyria with or without vascular-type ehlers-danlos syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 'intellectual developmental disorder with abnormal behavior, microcephaly, and short stature' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 'encephalopathy, progressive, early-onset, with episodic rhabdomyolysis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0001710 Conotruncal defect 'Conotruncal defect' SubClassOf 'Abnormal heart morphology' 'Conotruncal defect' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0032591 hyperparathyroidism, transient neonatal 'hyperparathyroidism, transient neonatal' SubClassOf 'Genetic hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0030910 intellectual disability, autosomal dominant 45 'intellectual disability, autosomal dominant 45' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030919 intellectual disability, autosomal dominant 53 'intellectual disability, autosomal dominant 53' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030907 intellectual disability, X-linked 106 'intellectual disability, X-linked 106' SubClassOf 'X-linked non-syndromic intellectual disability' http://purl.obolibrary.org/obo/HP_0008994 Proximal muscle weakness in lower limbs 'Proximal muscle weakness in lower limbs' SubClassOf 'Limb muscle weakness' http://purl.obolibrary.org/obo/HP_0006530 Interstitial pulmonary abnormality 'Interstitial pulmonary abnormality' SubClassOf 'Abnormal lung morphology' http://purl.obolibrary.org/obo/MONDO_0013421 type II complement component 8 deficiency 'type II complement component 8 deficiency' SubClassOf 'classic complement early component deficiency' 'type II complement component 8 deficiency' SubClassOf 'Immunodeficiency due to a late component of complements deficiency' http://purl.obolibrary.org/obo/MONDO_0021490 benign neoplasm of sebaceous gland 'benign neoplasm of sebaceous gland' SubClassOf 'benign neoplasm of skin' 'benign neoplasm of sebaceous gland' SubClassOf 'sebaceous gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0018792 Moyamoya syndrome 'Moyamoya syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya syndrome' SubClassOf 'Moyomoya angiopathy' http://purl.obolibrary.org/obo/MONDO_0020141 infectious disease with dementia 'infectious disease with dementia' SubClassOf 'has modifier' some 'rare' 'infectious disease with dementia' SubClassOf 'infectious disease' 'infectious disease with dementia' SubClassOf 'dementia (disease)'