170 126 7 http://www.ebi.ac.uk/efo/EFO_1000201 Common Hematopoietic Neoplasm 'Common Hematopoietic Neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_1359 Carney complex 'Carney complex' SubClassOf 'disease with Cushing syndrome as a major feature' http://www.orpha.net/ORDO/Orphanet_1336 Hyperkeratosis-hyperpigmentation syndrome 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_1000392 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'leukocyte disease' 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'disease has feature' some 'Periventricular nodular heterotopia' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'autosomal dominant disease' 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' http://www.ebi.ac.uk/efo/EFO_1000041 nephrosclerosis 'nephrosclerosis' SubClassOf 'degenerative disorder' http://www.orpha.net/ORDO/Orphanet_238446 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'autism' '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' http://www.orpha.net/ORDO/Orphanet_397590 Silver-Russell syndrome due to a point mutation 'Silver-Russell syndrome due to a point mutation' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to a point mutation' SubClassOf 'Silver-Russell syndrome' http://www.orpha.net/ORDO/Orphanet_263676 Hereditary epidermolysis bullosa associated with ocular features 'Hereditary epidermolysis bullosa associated with ocular features' SubClassOf 'Genodermatosis with ocular features' 'Hereditary epidermolysis bullosa associated with ocular features' SubClassOf 'Genodermatosis with ocular features' http://www.ebi.ac.uk/efo/EFO_0000779 Drosophila C virus infection 'Drosophila C virus infection' SubClassOf 'animal disease' http://www.orpha.net/ORDO/Orphanet_3450 Weissenbacher- Zweymuller syndrome 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Type 11 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_261197 Proximal 16p11.2 microdeletion syndrome 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'autism' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_58 Alexander disease 'Alexander disease' SubClassOf 'Abnormal eye movements' 'Alexander disease' SubClassOf 'eye degenerative disease' 'Alexander disease' SubClassOf 'Abnormal eye movements' http://www.orpha.net/ORDO/Orphanet_206659 Non-dystrophic myopathy with collagen 6 anomaly 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Non-dystrophic myopathy' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Non-dystrophic myopathy' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Qualitative or quantitative defects of collagen 6' http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'Conjunctival lymphangiectasia' 'Milroy disease' SubClassOf 'Conjunctival lymphangiectasia' http://purl.obolibrary.org/obo/HANCESTRO_0463 American 'American' SubClassOf 'European' 'American' SubClassOf http://purl.obolibrary.org/obo/HANCESTRO_0566 http://www.ebi.ac.uk/efo/EFO_0004994 lumbar disc degeneration 'lumbar disc degeneration' SubClassOf 'degenerative disorder' 'lumbar disc degeneration' SubClassOf 'vertebral column disease' http://www.orpha.net/ORDO/Orphanet_70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_289380 Myosclerosis 'Myosclerosis' SubClassOf 'Non-dystrophic myopathy with collagen 6 anomaly' 'Myosclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100225 'Myosclerosis' SubClassOf 'Non-dystrophic myopathy with collagen 6 anomaly' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'disease of catalytic activity' 'GM3 synthase deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'GM3 synthase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'GM3 synthase deficiency' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'GM3 synthase deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://www.ebi.ac.uk/efo/EFO_0000223 acute myelomonocytic leukemia 'acute myelomonocytic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute myelomonocytic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myelomonocytic leukemia' SubClassOf 'unclassified acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_79211 Combined hyperlipidemia 'Combined hyperlipidemia' SubClassOf 'has modifier' some 'rare' 'Combined hyperlipidemia' SubClassOf 'familial hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_1855 Spondyloenchondrodysplasia 'Spondyloenchondrodysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Spondyloenchondrodysplasia' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Spondyloenchondrodysplasia' SubClassOf 'type 1 interferonopathy' 'Spondyloenchondrodysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.ebi.ac.uk/efo/EFO_0002703 SNP array 'SNP array' SubClassOf 'DNA array' 'SNP array' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010939 http://www.orpha.net/ORDO/Orphanet_1860 Thanatophoric dysplasia type 1 'Thanatophoric dysplasia type 1' SubClassOf 'Severe achondroplasia - developmental delay - acanthosis nigricans' 'Thanatophoric dysplasia type 1' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'eye degenerative disease' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Abnormal eye movements' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Abnormal eye movements' http://www.orpha.net/ORDO/Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' http://www.orpha.net/ORDO/Orphanet_163988 Developmental delay - deafness, Hildebrand type 'Developmental delay - deafness, Hildebrand type' SubClassOf 'Syndromic genetic deafness' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'X-linked syndromic intellectual disability' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'X-linked deafness' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'Syndromic genetic deafness' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_99176 Congenital eyelid retraction 'Congenital eyelid retraction' SubClassOf 'Congenital upper palpebral retraction' 'Congenital eyelid retraction' SubClassOf 'Congenital upper palpebral retraction' 'Congenital eyelid retraction' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_0003027 acute myeloblastic leukemia without maturation 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia' 'acute myeloblastic leukemia without maturation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloblastic leukemia without maturation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloblastic leukemia without maturation' SubClassOf 'unclassified acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003029 acute basophilic leukemia 'acute basophilic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute basophilic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia' 'acute basophilic leukemia' SubClassOf 'unclassified acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003028 acute myeloblastic leukemia with maturation 'acute myeloblastic leukemia with maturation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia' 'acute myeloblastic leukemia with maturation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloblastic leukemia with maturation' SubClassOf 'unclassified acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100116 Middle East respiratory syndrome 'Middle East respiratory syndrome' SubClassOf 'respiratory system disease' 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/HP_0007256 Abnormal pyramidal sign 'Abnormal pyramidal sign' SubClassOf 'Abnormal reflex' http://www.ebi.ac.uk/efo/EFO_0005772 neurodegenerative disease 'neurodegenerative disease' SubClassOf 'degenerative disorder' 'neurodegenerative disease' SubClassOf 'central nervous system disease' 'neurodegenerative disease' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/HP_0010743 Short metatarsal 'Short metatarsal' SubClassOf 'Abnormality of skeletal morphology' 'Short metatarsal' SubClassOf http://purl.obolibrary.org/obo/HP_0003026 http://www.orpha.net/ORDO/Orphanet_75840 Congenital muscular dystrophy, Ullrich type 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Qualitative or quantitative defects of collagen 6' http://www.orpha.net/ORDO/Orphanet_85295 HSD10 disease, atypical type 'HSD10 disease, atypical type' SubClassOf 'HSD10 disease' 'HSD10 disease, atypical type' SubClassOf 'HSD10 disease' http://www.orpha.net/ORDO/Orphanet_85196 Nodulosis-arthropathy-osteolysis syndrome 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' http://www.orpha.net/ORDO/Orphanet_295085 Congenital absence of upper arm and forearm with hand present, unilateral 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' http://www.orpha.net/ORDO/Orphanet_295087 Congenital absence of upper arm and forearm with hand present, bilateral 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' http://www.orpha.net/ORDO/Orphanet_295010 Central polydactyly of toes 'Central polydactyly of toes' SubClassOf 'Polydactyly' 'Central polydactyly of toes' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_295008 Postaxial polydactyly of toes 'Postaxial polydactyly of toes' SubClassOf 'Polydactyly' 'Postaxial polydactyly of toes' SubClassOf 'Polydactyly' http://purl.obolibrary.org/obo/HP_0005033 Distal ulnar hypoplasia 'Distal ulnar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0003026 http://www.orpha.net/ORDO/Orphanet_85328 X-linked intellectual disability, Turner type 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'Conjunctival hemangioma or hemolymphangioma' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'Conjunctival tumor' 'Deafness - lymphedema - leukemia' SubClassOf 'head and neck neoplasia' http://www.orpha.net/ORDO/Orphanet_329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0024236 degenerative disorder 'degenerative disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0000049 invasive pneumococcal disease, recurrent isolated 'invasive pneumococcal disease, recurrent isolated' SubClassOf 'inherited disease susceptibility' http://www.orpha.net/ORDO/Orphanet_295179 Postaxial polydactyly of toes, unilateral 'Postaxial polydactyly of toes, unilateral' SubClassOf 'Postaxial polydactyly of toes' 'Postaxial polydactyly of toes, unilateral' SubClassOf 'Postaxial polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_295181 Postaxial polydactyly of toes, bilateral 'Postaxial polydactyly of toes, bilateral' SubClassOf 'Postaxial polydactyly of toes' 'Postaxial polydactyly of toes, bilateral' SubClassOf 'Postaxial polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_295185 Central polydactyly of toes, bilateral 'Central polydactyly of toes, bilateral' SubClassOf 'Central polydactyly of toes' 'Central polydactyly of toes, bilateral' SubClassOf 'Central polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_295183 Central polydactyly of toes, unilateral 'Central polydactyly of toes, unilateral' SubClassOf 'Central polydactyly of toes' 'Central polydactyly of toes, unilateral' SubClassOf 'Central polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'mycobacterial infectious disease' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'immunodeficiency disease' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'X-linked disease' http://www.orpha.net/ORDO/Orphanet_166100 Stickler syndrome type 3 'Stickler syndrome type 3' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 3' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Stickler syndrome type 3' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Otospondylomegaepiphyseal dysplasia' 'Stickler syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_34521 Distal myopathy with early respiratory muscle involvement 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_2609 Isolated NADH-CoQ reductase deficiency 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'congenital nervous system disorder' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'mitochondrial complex I deficiency' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0020150 rare palpebral, lacrimal system and conjunctival disease 'rare palpebral, lacrimal system and conjunctival disease' SubClassOf 'disease of orbital region' http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis 'rare disorder with ptosis' SubClassOf 'Kinetic eyelid anomaly' 'rare disorder with ptosis' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_83648 X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010560 cleft palate with or without ankyloglossia, X-linked 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'hereditary connective tissue disorder' 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'eye degenerative disease' http://www.orpha.net/ORDO/Orphanet_2254 Pontocerebellar hypoplasia type 1 'Pontocerebellar hypoplasia type 1' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2201 Palmoplantar keratoderma-spastic paralysis syndrome 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/HP_0003487 Babinski sign 'Babinski sign' SubClassOf 'Abnormal reflex' http://www.ebi.ac.uk/efo/EFO_1001233 variant Creutzfeldt-Jakob disease 'variant Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'variant Creutzfeldt-Jakob disease' SubClassOf 'acquired Creutzfeldt-Jakob disease' http://www.orpha.net/ORDO/Orphanet_2095 Gorlin-Chaudhry-Moss syndrome 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2042 Tracheo-esophageal fistula - hypospadias 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Larynx anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Tracheal anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'genetic otorhinolaryngological malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Genetic respiratory malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Larynx anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Tracheal anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Genetic respiratory malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_178464 Hereditary proximal myopathy with early respiratory failure 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0010387 invasive pneumococcal disease, recurrent isolated, 2 'invasive pneumococcal disease, recurrent isolated, 2' SubClassOf 'invasive pneumococcal disease, recurrent isolated' 'invasive pneumococcal disease, recurrent isolated, 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' http://www.orpha.net/ORDO/Orphanet_308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' EquivalentTo 'autosomal recessive disease' and ('disease has major feature' some 'Punctate palmoplantar keratoderma') 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_308023 Disease with punctate palmoplantar keratoderma as a major feature 'Disease with punctate palmoplantar keratoderma as a major feature' EquivalentTo 'disease' and ('disease has major feature' some 'Punctate palmoplantar keratoderma') 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Punctate palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'disease has major feature' some 'Punctate palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Punctate palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' EquivalentTo 'autosomal dominant disease' and ('disease has major feature' some 'Punctate palmoplantar keratoderma') 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Ataxia-telangiectasia' SubClassOf 'Conjunctival telangiectasia' http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'LOC syndrome' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' http://www.orpha.net/ORDO/Orphanet_2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 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_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Goldenhar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Goldenhar syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Goldenhar syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Goldenhar syndrome' SubClassOf 'skull neoplasm' 'Goldenhar syndrome' SubClassOf 'Genetic skin tumor' 'Goldenhar syndrome' SubClassOf 'Lens shape anomaly' 'Goldenhar syndrome' SubClassOf 'cornea neoplasm' 'Goldenhar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Goldenhar syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Goldenhar syndrome' SubClassOf 'eyelid neoplasm' 'Goldenhar syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Goldenhar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Goldenhar syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Goldenhar syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Goldenhar syndrome' SubClassOf 'Lens shape anomaly' 'Goldenhar syndrome' SubClassOf 'bone neoplasm' 'Goldenhar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Goldenhar syndrome' SubClassOf 'syndromic disease' 'Goldenhar syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' http://www.orpha.net/ORDO/Orphanet_412 Hyperlipoproteinemia type 3 'Hyperlipoproteinemia type 3' SubClassOf 'Combined hyperlipidemia' 'Hyperlipoproteinemia type 3' SubClassOf 'Combined hyperlipidemia' 'Hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' 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 '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/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 http://purl.obolibrary.org/obo/MONDO_0100223 http://purl.obolibrary.org/obo/CL_0000898 naive T cell 'memory T cell' DisjointWith 'naive T cell' http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' http://purl.obolibrary.org/obo/CL_0000937 pre-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_586 Cystic fibrosis 'Cystic fibrosis' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_652 Multiple endocrine neoplasia type 1 'Multiple endocrine neoplasia type 1' SubClassOf 'disease with Cushing syndrome as a major feature' http://www.orpha.net/ORDO/Orphanet_171714 Amish infantile epilepsy syndrome 'Amish infantile epilepsy syndrome' SubClassOf 'GM3 synthase deficiency' http://www.orpha.net/ORDO/Orphanet_610 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Bethlem myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' http://purl.obolibrary.org/obo/MONDO_0020719 susceptibility to Hirschsprung disease 'susceptibility to Hirschsprung disease' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Hirschsprung disease') 'susceptibility to Hirschsprung disease' SubClassOf 'inherited disease susceptibility' 'susceptibility to Hirschsprung disease' SubClassOf 'predisposes towards' some 'Hirschsprung disease' http://www.orpha.net/ORDO/Orphanet_183598 Rare genetic palpebral, lacrimal system and conjunctival disease 'Rare genetic palpebral, lacrimal system and conjunctival disease' EquivalentTo 'rare palpebral, lacrimal system and conjunctival disease' and ('has modifier' some 'inherited') 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'rare palpebral, lacrimal system and conjunctival disease' http://purl.obolibrary.org/obo/MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'Qualitative or quantitative defects of merosin' http://www.orpha.net/ORDO/Orphanet_524 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'disease with Cushing syndrome as a major feature' http://www.orpha.net/ORDO/Orphanet_562 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'disease with Cushing syndrome as a major feature' http://www.orpha.net/ORDO/Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' http://www.orpha.net/ORDO/Orphanet_93222 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 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' 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100223 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' 'autism, susceptibility to, 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020836 http://www.orpha.net/ORDO/Orphanet_2925 Polymicrogyria - turricephaly - hypogenitalism 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'syndromic intellectual disability' 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/CL_0000451 dendritic cell 'dendritic cell' DisjointWith 'lymphocyte' http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia 'Familial isolated arrhythmogenic right ventricular dysplasia' EquivalentTo 'Arrhythmogenic right ventricular dysplasia' and ('has modifier' some 'has an isolated presentation') 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has modifier' some 'has an isolated presentation' http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Conjunctival telangiectasia' http://www.orpha.net/ORDO/Orphanet_2963 Progeroid syndrome, Petty type 'Progeroid syndrome, Petty type' SubClassOf 'Ectodermal dysplasia syndrome' 'Progeroid syndrome, Petty type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_702 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'Abnormal eye movements' 'Pelizaeus-Merzbacher disease' SubClassOf 'Abnormal eye movements' http://www.orpha.net/ORDO/Orphanet_2976 Pseudoleprechaunism syndrome, Patterson type 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'disease with Cushing syndrome as a major feature' 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'adrenal gland disease' 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_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_137653 Microcephaly - digital anomalies - intellectual disability 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 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' http://purl.obolibrary.org/obo/MONDO_0003608 optic atrophy 'optic atrophy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0017820 disease with Cushing syndrome as a major feature 'disease with Cushing syndrome as a major feature' SubClassOf 'disease has major feature' some 'Cushing syndrome' 'disease with Cushing syndrome as a major feature' SubClassOf 'Cushing syndrome' 'disease with Cushing syndrome as a major feature' EquivalentTo 'disease' and ('disease has major feature' some 'Cushing syndrome') http://www.orpha.net/ORDO/Orphanet_98577 Kinetic eyelid anomaly 'Kinetic eyelid anomaly' SubClassOf 'has modifier' some 'rare' 'Kinetic eyelid anomaly' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_98579 Congenital upper palpebral retraction 'Congenital upper palpebral retraction' SubClassOf 'Kinetic eyelid anomaly' 'Congenital upper palpebral retraction' SubClassOf 'Kinetic eyelid anomaly' http://www.orpha.net/ORDO/Orphanet_96136 Non-distal monosomy 7p 'Non-distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' 'Non-distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_98614 Conjunctival lymphangiectasia 'Conjunctival lymphangiectasia' SubClassOf 'Conjunctival vascular anomaly' 'Conjunctival lymphangiectasia' SubClassOf 'Conjunctival vascular anomaly' http://www.orpha.net/ORDO/Orphanet_98613 Conjunctival telangiectasia 'Conjunctival telangiectasia' SubClassOf 'Conjunctival vascular anomaly' 'Conjunctival telangiectasia' SubClassOf 'Conjunctival vascular anomaly' http://www.orpha.net/ORDO/Orphanet_98612 Conjunctival hemangioma or hemolymphangioma 'Conjunctival hemangioma or hemolymphangioma' SubClassOf 'Conjunctival vascular anomaly' 'Conjunctival hemangioma or hemolymphangioma' SubClassOf 'Conjunctival vascular anomaly' http://www.orpha.net/ORDO/Orphanet_98611 Conjunctival vascular anomaly 'Conjunctival vascular anomaly' SubClassOf 'has modifier' some 'rare' 'Conjunctival vascular anomaly' SubClassOf 'conjunctival vascular disease' 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://www.orpha.net/ORDO/Orphanet_98681 Rare strabismus and restriction syndrome 'Rare strabismus and restriction syndrome' SubClassOf 'Abnormal eye movements' 'Rare strabismus and restriction syndrome' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_98691 Abnormal eye movements 'Abnormal eye movements' SubClassOf 'Genetic neuro-ophthalmological disease' 'Abnormal eye movements' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_306674 Kufor-Rakeb syndrome 'Kufor-Rakeb syndrome' SubClassOf 'Abnormal eye movements' 'Kufor-Rakeb syndrome' SubClassOf 'eye degenerative disease' 'Kufor-Rakeb syndrome' SubClassOf 'Abnormal eye movements' http://www.orpha.net/ORDO/Orphanet_370938 Salt-and-pepper syndrome 'Salt-and-pepper syndrome' SubClassOf 'GM3 synthase deficiency' 'Salt-and-pepper syndrome' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Salt-and-pepper syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disease 'conjunctival vascular disease' SubClassOf 'ocular vascular disease' 'conjunctival vascular disease' SubClassOf 'Conjunctival Disorder' http://www.orpha.net/ORDO/Orphanet_103912 Epithelio-exfoliative colitis - deafness 'Epithelio-exfoliative colitis - deafness' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Epithelio-exfoliative colitis - deafness' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0011667 maturity-onset diabetes of the young type 4 'maturity-onset diabetes of the young type 4' SubClassOf 'MODY' http://purl.obolibrary.org/obo/MONDO_0011668 maturity-onset diabetes of the young type 6 'maturity-onset diabetes of the young type 6' SubClassOf 'MODY' http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'sporadic fetal brain disruption sequence' 'NDE1-related microhydranencephaly' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf 'EEC syndrome' http://purl.obolibrary.org/obo/MONDO_0018750 class I glucose-6-phosphate dehydrogenase deficiency 'class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf 'Disorder of glycolysis' 'class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' 'class I glucose-6-phosphate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://purl.obolibrary.org/obo/MONDO_0018642 NIK deficiency 'NIK deficiency' SubClassOf 'disease of signal transduction' 'NIK deficiency' SubClassOf 'non-severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0016030 Evans syndrome 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'syndromic disease' 'Evans syndrome' SubClassOf 'primary thrombocytopenia' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0018545 primary immunodeficiency with predisposition to severe viral infection 'primary immunodeficiency with predisposition to severe viral infection' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/HANCESTRO_0566 undefined ancestry population 'undefined ancestry population' SubClassOf 'ancestry category' http://purl.obolibrary.org/obo/MONDO_0018452 deficiency of the interleukin-36 receptor antagonist 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'pyogenic autoinflammatory syndrome' 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'autoinflammatory syndrome with skin involvement' http://purl.obolibrary.org/obo/MONDO_0008905 predisposition to invasive fungal disease due to CARD9 deficiency 'predisposition to invasive fungal disease due to CARD9 deficiency' SubClassOf 'Chronic mucocutaneous candidosis' http://purl.obolibrary.org/obo/MONDO_0018335 deep dermatophytosis 'deep dermatophytosis' SubClassOf 'has modifier' some 'rare' 'deep dermatophytosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0008869 Seckel syndrome 1 'Seckel syndrome 1' SubClassOf 'Seckel syndrome' http://purl.obolibrary.org/obo/MONDO_0008887 bronchiectasis with or without elevated sweat chloride 1 'bronchiectasis with or without elevated sweat chloride 1' SubClassOf 'idiopathic bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'congenital hematological disorder' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'refractory cytopenia with multilineage dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Immuno-osseous dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'bone neoplasm' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014349 pontocerebellar hypoplasia type 10 'pontocerebellar hypoplasia type 10' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0014353 PGM3-CDG 'PGM3-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'PGM3-CDG' SubClassOf 'Disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0014391 severe combined immunodeficiency due to CTPS1 deficiency 'severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'type 1 interferonopathy' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'autoinflammatory syndrome with skin involvement' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'predominantly small-vessel vasculitis' http://purl.obolibrary.org/obo/MONDO_0004933 hypoplastic left heart syndrome 'hypoplastic left heart syndrome' SubClassOf 'syndromic disease' 'hypoplastic left heart syndrome' SubClassOf 'congenital heart disease' 'hypoplastic left heart syndrome' SubClassOf 'congenital left-sided heart lesions' 'hypoplastic left heart syndrome' SubClassOf 'univentricular cardiopathy' http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'primary immunodeficiency with predisposition to severe viral infection' http://purl.obolibrary.org/obo/MONDO_0004822 bronchiectasis 'bronchiectasis' SubClassOf 'chronic obstructive pulmonary disease' 'bronchiectasis' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' 'idiopathic bronchiectasis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100195 X-linked intellectual disability with hypopituitarism 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism') 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism' 'X-linked intellectual disability with hypopituitarism' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016322 neuroendocrine cell hyperplasia of infancy 'neuroendocrine cell hyperplasia of infancy' SubClassOf 'interstitial lung disease specific to infancy' 'neuroendocrine cell hyperplasia of infancy' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/MONDO_0100223 mitochondrial complex I deficiency, nuclear type 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy 'collagen 6-related myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' http://purl.obolibrary.org/obo/MONDO_0024498 glioma susceptibility 1 'glioma susceptibility 1' SubClassOf 'inherited disease susceptibility' 'glioma susceptibility 1' SubClassOf 'predisposes towards' some 'malignant glioma' http://www.ebi.ac.uk/efo/EFO_0010899 anti-merkel cell virus antibody measurement 'anti-merkel cell virus antibody measurement' SubClassOf 'antibody measurement' http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 'holoprosencephaly 5' SubClassOf 'Alobar holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Septopreoptic holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Midline interhemispheric variant of holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Semilobar holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Microform holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0012155 choanal atresia 'choanal atresia' SubClassOf 'nasal cavity disease' 'choanal atresia' SubClassOf 'nose and cavum anomaly' http://purl.obolibrary.org/obo/MONDO_0014821 complex lethal osteochondrodysplasia 'complex lethal osteochondrodysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' http://purl.obolibrary.org/obo/MONDO_0014878 patent ductus arteriosus 2 'patent ductus arteriosus 2' SubClassOf 'familial patent arterial duct' http://purl.obolibrary.org/obo/MONDO_0012088 primary ciliary dyskinesia 5 'primary ciliary dyskinesia 5' SubClassOf 'Primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0000105 anemia, nonspherocytic hemolytic 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://www.ebi.ac.uk/efo/EFO_0010918 lectin-like oxidized LDL receptor 1 measurement 'lectin-like oxidized LDL receptor 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010919 melusin measurement 'melusin measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010916 interleukin-27 measurement 'interleukin-27 measurement' SubClassOf 'blood protein measurement' http://purl.obolibrary.org/obo/MONDO_0014743 rhizomelic chondrodysplasia punctata type 5 'rhizomelic chondrodysplasia punctata type 5' SubClassOf 'Rhizomelic chondrodysplasia punctata' http://www.ebi.ac.uk/efo/EFO_0010917 kidney injury molecule 1 measurement 'kidney injury molecule 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010914 fatty acid-binding protein, adipocyte measurement 'fatty acid-binding protein, adipocyte measurement' SubClassOf 'blood protein measurement' http://purl.obolibrary.org/obo/MONDO_0000108 bacteremia, susceptibility 'bacteremia, susceptibility' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia') 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia' http://www.ebi.ac.uk/efo/EFO_0010915 heat shock 27 kDa protein measurement 'heat shock 27 kDa protein measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010912 endothelial cell-specific molecule 1 measurement 'endothelial cell-specific molecule 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010913 eosinophil cationic protein measurement 'eosinophil cationic protein measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010910 C-C motif chemokine 20 measurement 'C-C motif chemokine 20 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010911 C-X-C motif chemokine 16 measurement 'C-X-C motif chemokine 16 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010909 adrenomedullin measurement 'adrenomedullin measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010907 polyomavirus 2 seropositivity 'polyomavirus 2 seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0010908 Epstein-Barr virus seropositivity 'Epstein-Barr virus seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0010905 BK polyomavirus seropositivity 'BK polyomavirus seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0010906 merkel cell virus seropositivity 'merkel cell virus seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0010903 anti-chlamydia trachomatis antibody measurement 'anti-chlamydia trachomatis antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010904 anti-BK polyomavirus antibody measurement 'anti-BK polyomavirus antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010901 anti-herpes simplex virus 6 antibody measurement 'anti-herpes simplex virus 6 antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010902 anti-herpes simplex virus 7 antibody measurement 'anti-herpes simplex virus 7 antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010900 anti-polyomavirus 2 antibody measurement 'anti-polyomavirus 2 antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0010938 large-insert clone DNA microarray 'large-insert clone DNA microarray' SubClassOf 'DNA array' http://www.ebi.ac.uk/efo/EFO_0010939 oligonucleotide DNA microarray 'oligonucleotide DNA microarray' SubClassOf 'DNA array' http://www.ebi.ac.uk/efo/EFO_0010936 SDS-PAGE 'SDS-PAGE' SubClassOf 'protein assay' http://www.ebi.ac.uk/efo/EFO_0010937 comparative genomic hybridization (CGH) 'comparative genomic hybridization (CGH)' SubClassOf 'in-situ hybridization assay' 'comparative genomic hybridization (CGH)' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0010934 aspartate aminotransferase to alanine aminotransferase ratio 'aspartate aminotransferase to alanine aminotransferase ratio' SubClassOf 'liver disease biomarker' http://www.ebi.ac.uk/efo/EFO_0010935 cytokine secretion assay 'cytokine secretion assay' SubClassOf 'protein assay' http://www.ebi.ac.uk/efo/EFO_0010932 urokinase plasminogen activator surface receptor measurement 'urokinase plasminogen activator surface receptor measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010933 response to dexamethasone 'response to dexamethasone' SubClassOf 'response to glucocorticoid' http://www.ebi.ac.uk/efo/EFO_0010930 TNF-related apoptosis-inducing ligand receptor 2 measurement 'TNF-related apoptosis-inducing ligand receptor 2 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010931 tumor necrosis factor receptor 1 measurement 'tumor necrosis factor receptor 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010929 TNF-related activation-induced cytokine measurement 'TNF-related activation-induced cytokine measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010927 proto-oncogene tyrosine-protein kinase Src measurement 'proto-oncogene tyrosine-protein kinase Src measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010928 SIR2-like protein 2 measurement 'SIR2-like protein 2 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010925 protein S100-A12 measurement 'protein S100-A12 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010926 proteinase-activated receptor 1 measurement 'proteinase-activated receptor 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010923 pentraxin-related protein PTX3 measurement 'pentraxin-related protein PTX3 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010924 proheparin-binding EGF-like growth factor measurement 'proheparin-binding EGF-like growth factor measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010921 N-terminal prohormone brain natriuretic peptide measurement 'N-terminal prohormone brain natriuretic peptide measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010922 P-selectin glycoprotein ligand 1 measurement 'P-selectin glycoprotein ligand 1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010920 membrane-bound aminopeptidase P measurement 'membrane-bound aminopeptidase P measurement' SubClassOf 'blood protein measurement' http://purl.obolibrary.org/obo/MONDO_0014789 CCDC115-CDG 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'CCDC115-CDG' SubClassOf 'Disorder of multiple glycosylation' 'CCDC115-CDG' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0010940 microglial activation measurement 'microglial activation measurement' SubClassOf 'brain measurement' http://purl.obolibrary.org/obo/MONDO_0014790 TMEM199-CDG 'TMEM199-CDG' SubClassOf 'Disorder of multiple glycosylation' 'TMEM199-CDG' SubClassOf 'has modifier' some 'rare' 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'secondary glomerular disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'systemic autoimmune disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome 'periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf 'Hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0014498 familial cold autoinflammatory syndrome 4 'familial cold autoinflammatory syndrome 4' SubClassOf 'Familial cold urticaria' http://purl.obolibrary.org/obo/HP_0005387 Combined immunodeficiency 'Combined immunodeficiency' SubClassOf 'Immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007220 brachydactyly type B1 'brachydactyly type B1' SubClassOf 'Brachydactyly type B' http://purl.obolibrary.org/obo/HP_0003026 Short long bone 'Short long bone' SubClassOf 'Abnormality of skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0020290 atrioventricular septal defect 'atrioventricular septal defect' SubClassOf 'heart septal defect' 'atrioventricular septal defect' SubClassOf 'atrioventricular valve anomaly' http://purl.obolibrary.org/obo/MONDO_0009601 metaphyseal dysplasia without hypotrichosis 'metaphyseal dysplasia without hypotrichosis' SubClassOf 'Cartilage-hair hypoplasia' http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'anemia, nonspherocytic hemolytic' http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'autosomal recessive disease' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'other syndrome with a central nervous system malformation as major feature' http://purl.obolibrary.org/obo/GO_0050916 sensory perception of sweet taste 'sensory perception of sweet taste' SubClassOf 'sensory perception of taste' http://purl.obolibrary.org/obo/MONDO_0007954 May-Hegglin anomaly 'May-Hegglin anomaly' SubClassOf 'MYH9-related disease' 'May-Hegglin anomaly' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019820 univentricular cardiopathy 'univentricular cardiopathy' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020836 autism, susceptiblity to 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism' 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism') 'autism, susceptiblity to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0017019 interstitial lung disease specific to infancy 'interstitial lung disease specific to infancy' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2 'elliptocytosis 2' SubClassOf 'Hereditary elliptocytosis' http://purl.obolibrary.org/obo/MONDO_0019558 discoid lupus erythematosus 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0020404 shone complex 'shone complex' SubClassOf 'syndromic disease' 'shone complex' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis 'AA amyloidosis' SubClassOf 'amyloidosis' 'AA amyloidosis' SubClassOf 'acquired amyloid peripheral neuropathy' 'AA amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AA amyloidosis' SubClassOf 'secondary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'epilepsy with myoclonic absences' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0010920 microtia 'microtia' SubClassOf 'pinnae and external auditory canal anomaly' http://purl.obolibrary.org/obo/MONDO_0009930 pulmonary arteriovenous malformation (disease) 'pulmonary arteriovenous malformation (disease)' SubClassOf 'respiratory system neoplasm' 'pulmonary arteriovenous malformation (disease)' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'pulmonary arteriovenous malformation (disease)' SubClassOf 'arteriovenous hemangioma/malformation' 'pulmonary arteriovenous malformation (disease)' SubClassOf 'genetic vascular tumor' http://purl.obolibrary.org/obo/MONDO_0007319 familial calcium pyrophosphate deposition 'familial calcium pyrophosphate deposition' SubClassOf 'chondrocalcinosis' 'familial calcium pyrophosphate deposition' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'familial calcium pyrophosphate deposition' SubClassOf 'has modifier' some 'rare' 'familial calcium pyrophosphate deposition' SubClassOf 'Inborn errors of metabolism' 'familial calcium pyrophosphate deposition' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0015660 sporadic fetal brain disruption sequence 'sporadic fetal brain disruption sequence' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0015643 photosensitive epilepsy 'photosensitive epilepsy' SubClassOf 'radiation-induced disorder' 'photosensitive epilepsy' SubClassOf 'reflex epilepsy' http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'mixed autoinflammatory and autoimmune syndrome' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'syndrome with combined immunodeficiency' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0013906 amelogenesis imperfecta hypomaturation type 2A4 'amelogenesis imperfecta hypomaturation type 2A4' SubClassOf 'Hypomaturation amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0013928 dystonia 23 'dystonia 23' SubClassOf 'Focal, segmental or multifocal dystonia' 'dystonia 23' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0011377 long QT syndrome 3 'long QT syndrome 3' SubClassOf 'Familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0011193 cone dystrophy 3 'cone dystrophy 3' SubClassOf 'Progressive cone dystrophy' 'cone dystrophy 3' SubClassOf 'Cone rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0013810 COG6-CGD 'COG6-CGD' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG6-CGD' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'COG6-CGD' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0011216 hemochromatosis type 2A 'hemochromatosis type 2A' SubClassOf 'Hemochromatosis type 2' http://purl.obolibrary.org/obo/MONDO_0013885 Malan overgrowth syndrome 'Malan overgrowth syndrome' SubClassOf 'Sotos syndrome' http://purl.obolibrary.org/obo/MONDO_0013747 atrioventricular septal defect 4 'atrioventricular septal defect 4' SubClassOf 'atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013775 thrombomodulin-related bleeding disorder 'thrombomodulin-related bleeding disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'thrombomodulin-related bleeding disorder' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/HP_0031295 Left atrial enlargement 'Left atrial enlargement' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P 'Fanconi anemia complementation group P' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0013585 hydrolethalus syndrome 2 'hydrolethalus syndrome 2' SubClassOf 'Hydrolethalus' http://purl.obolibrary.org/obo/MONDO_0001314 chondrocalcinosis 'chondrocalcinosis' SubClassOf 'metabolic disease' 'chondrocalcinosis' SubClassOf 'arthritis' 'chondrocalcinosis' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 'nephronophthisis 11' SubClassOf 'Nephronophthisis' 'nephronophthisis 11' SubClassOf 'Senior-Boichis syndrome' http://purl.obolibrary.org/obo/MONDO_0013324 lymphedema-posterior choanal atresia syndrome 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'head and neck neoplasia' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'lymphangioma' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'nose and cavum anomaly' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic vascular tumor' http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 'polycystic kidney disease 2' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0013220 hemochromatosis type 2B 'hemochromatosis type 2B' SubClassOf 'Hemochromatosis type 2' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'disease of catalytic activity' 'GM3 synthase deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'GM3 synthase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'GM3 synthase deficiency' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'GM3 synthase deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0024236 degenerative disorder 'degenerative disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0000049 invasive pneumococcal disease, recurrent isolated 'invasive pneumococcal disease, recurrent isolated' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0020150 rare palpebral, lacrimal system and conjunctival disease 'rare palpebral, lacrimal system and conjunctival disease' SubClassOf 'disease of orbital region' http://purl.obolibrary.org/obo/MONDO_0020719 susceptibility to Hirschsprung disease 'susceptibility to Hirschsprung disease' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Hirschsprung disease') 'susceptibility to Hirschsprung disease' SubClassOf 'inherited disease susceptibility' 'susceptibility to Hirschsprung disease' SubClassOf 'predisposes towards' some 'Hirschsprung disease' http://purl.obolibrary.org/obo/MONDO_0017820 disease with Cushing syndrome as a major feature 'disease with Cushing syndrome as a major feature' SubClassOf 'disease has major feature' some 'Cushing syndrome' 'disease with Cushing syndrome as a major feature' SubClassOf 'Cushing syndrome' 'disease with Cushing syndrome as a major feature' EquivalentTo 'disease' and ('disease has major feature' some 'Cushing syndrome') http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disease 'conjunctival vascular disease' SubClassOf 'ocular vascular disease' 'conjunctival vascular disease' SubClassOf 'Conjunctival Disorder'