106 144 0 http://www.ebi.ac.uk/efo/EFO_1000275 Gastric Neuroendocrine Tumor G1 'Gastric Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_0000378 coronary artery disease 'coronary artery disease' SubClassOf 'coronary heart disease' 'coronary artery disease' SubClassOf 'arterial disorder' 'coronary artery disease' SubClassOf 'heart disease' 'coronary artery disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1305 Feingold syndrome 'Feingold syndrome' SubClassOf 'autosomal dominant disease' 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_1300 Autosomal dominant popliteal pterygium syndrome 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0033374 epileptic encephalopathy, early infantile, 65 'epileptic encephalopathy, early infantile, 65' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 65' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0000558 Kaposi's sarcoma 'Kaposi's sarcoma' SubClassOf 'human herpesvirus 8 infection' http://www.ebi.ac.uk/efo/EFO_0009294 CITE-seq 'CITE-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0010058 Fluidigm C1-based library preparation 'Fluidigm C1-based library preparation' SubClassOf 'library preparation' 'Fluidigm C1-based library preparation' SubClassOf 'single cell library construction' http://www.orpha.net/ORDO/Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'autosomal dominant disease' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0018652 biological anomaly without phenotypic characterization 'biological anomaly without phenotypic characterization' SubClassOf 'disease' 'biological anomaly without phenotypic characterization' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'autosomal dominant disease' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_1000882 coronary stenosis 'coronary stenosis' SubClassOf 'coronary artery disease' 'coronary stenosis' SubClassOf 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_1000883 coronary thrombosis 'coronary thrombosis' SubClassOf 'coronary artery disease' 'coronary thrombosis' SubClassOf 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_1000881 coronary aneurysm 'coronary aneurysm' SubClassOf 'coronary artery disease' 'coronary aneurysm' SubClassOf 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_1000819 arteriolosclerosis 'arteriolosclerosis' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000820 arteriosclerosis obliterans 'arteriosclerosis obliterans' SubClassOf 'coronary artery disease' http://www.orpha.net/ORDO/Orphanet_79499 Autosomal dominant deafness-onychodystrophy syndrome 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_1000985 intermediate coronary syndrome 'intermediate coronary syndrome' SubClassOf 'coronary artery disease' 'intermediate coronary syndrome' SubClassOf 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_0004889 postoperative ventricular dysfunction 'postoperative ventricular dysfunction' SubClassOf 'coronary artery disease' 'postoperative ventricular dysfunction' SubClassOf 'coronary heart disease' http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'Early infantile epileptic encephalopathy' 'Microcephaly - seizures - developmental delay' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Early infantile epileptic encephalopathy' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy 'Early infantile epileptic encephalopathy' SubClassOf 'generalised epilepsy' 'Early infantile epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' 'Early infantile epileptic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'Early infantile epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'autosomal dominant disease' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0021661 coronary atherosclerosis 'coronary atherosclerosis' SubClassOf 'coronary artery disease' 'coronary atherosclerosis' SubClassOf 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_0007787 plasma betaine measurement 'plasma betaine measurement' SubClassOf 'is_about' some 'coronary artery disease' 'plasma betaine measurement' SubClassOf 'is_about' some 'coronary heart disease' http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia - epilepsy 'Hyperekplexia - epilepsy' SubClassOf 'Early infantile epileptic encephalopathy' 'Hyperekplexia - epilepsy' SubClassOf 'developmental and epileptic encephalopathy' 'Hyperekplexia - epilepsy' SubClassOf 'X-linked complex neurodevelopmental disorder' http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'autosomal dominant disease' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf 'disease arises from feature' some 'coronary artery disease' 'acute coronary syndrome' SubClassOf 'disease arises from feature' some 'coronary heart disease' http://www.orpha.net/ORDO/Orphanet_220465 Laron syndrome with immunodeficiency 'Laron syndrome with immunodeficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Laron syndrome with immunodeficiency' SubClassOf 'syndrome with combined immunodeficiency' 'Laron syndrome with immunodeficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' 'developmental and epileptic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100108 TPM3-related myopathy 'TPM3-related myopathy' SubClassOf 'Congenital myopathy' 'TPM3-related myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'TPM3-related myopathy' SubClassOf 'Congenital myopathy' 'TPM3-related myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' http://www.orpha.net/ORDO/Orphanet_3071 Costello syndrome 'Costello syndrome' SubClassOf 'autosomal dominant disease' 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_3107 Autosomal dominant Robinow syndrome 'Autosomal dominant Robinow syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_85284 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'Ichthyosis follicularis - alopecia - photophobia' 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100213 http://www.ebi.ac.uk/efo/EFO_0010550 sci-RNA-seq 'sci-RNA-seq' SubClassOf 'library preparation' 'sci-RNA-seq' SubClassOf 'single cell library construction' http://www.orpha.net/ORDO/Orphanet_319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'mycobacterial infectious disease' http://www.orpha.net/ORDO/Orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'autosomal dominant disease' 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0012586 coronary artery disease, autosomal dominant 2 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary artery disease' 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary heart disease' http://www.orpha.net/ORDO/Orphanet_319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'mycobacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0010820 spontaneous coronary artery dissection 'spontaneous coronary artery dissection' SubClassOf 'coronary artery disease' 'spontaneous coronary artery dissection' SubClassOf 'coronary heart disease' http://www.orpha.net/ORDO/Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'autosomal dominant disease' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_0007315 hordeolum 'hordeolum' SubClassOf 'skin disease' 'hordeolum' SubClassOf 'skin disease caused by bacterial infection' 'hordeolum' SubClassOf 'eye infectious disease' 'hordeolum' SubClassOf 'Staphylococcus aureus infection' http://www.ebi.ac.uk/efo/EFO_0009979 single cell Hi-C 'single cell Hi-C' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0009919 SPLiT-seq 'SPLiT-seq' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'autosomal dominant disease' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'Rare genetic neurological disorder' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_75563 X-linked sideroblastic anemia 'X-linked sideroblastic anemia' SubClassOf 'X-linked disease' 'X-linked sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia' SubClassOf 'Disorder of porphyrin and haem metabolism' 'X-linked sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia' SubClassOf 'Disorder of porphyrin and haem metabolism' http://purl.obolibrary.org/obo/MONDO_0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'autosomal dominant disease' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_0001645 coronary heart disease 'coronary heart disease' SubClassOf 'heart disease' 'coronary heart disease' SubClassOf 'arterial disorder' 'coronary heart disease' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_2514 Autosomal dominant microcephaly 'Autosomal dominant microcephaly' SubClassOf 'autosomal dominant disease' 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_168615 Hereditary persistence of alpha-fetoprotein 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_168612 Congenital deficiency in alpha-fetoprotein 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2802 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'Constitutional sideroblastic anemia' http://www.orpha.net/ORDO/Orphanet_2820 Spastic paraplegia - nephritis - deafness 'Spastic paraplegia - nephritis - deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_2816 Spastic paraplegia - epilepsy - intellectual disability 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_1001351 infectious arthritis 'infectious arthritis' SubClassOf 'realized in response to stimulus' some 'bacterial disease' 'infectious arthritis' EquivalentTo 'arthritis' and ('realized in response to stimulus' some 'bacterial disease') 'infectious arthritis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001483 non-obstructive coronary artery disease 'non-obstructive coronary artery disease' SubClassOf 'coronary artery disease' 'non-obstructive coronary artery disease' SubClassOf 'coronary heart disease' http://www.orpha.net/ORDO/Orphanet_178506 Brain calcification, Rajab type 'Brain calcification, Rajab type' SubClassOf 'Rare genetic neurological disorder' 'Brain calcification, Rajab type' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_1001243 wheat allergic reaction 'wheat allergic reaction' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_178469 Autosomal dominant non-syndromic intellectual disability 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'autosomal dominant disease' 'Autosomal dominant non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'autosomal dominant disease' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'Orofacial clefting syndrome' 'Blackfan-Diamond anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Blackfan-Diamond anemia' SubClassOf 'Disorder of purine metabolism' 'Blackfan-Diamond anemia' SubClassOf 'Developmental anomaly of metabolic origin' 'Blackfan-Diamond anemia' SubClassOf 'Orofacial clefting syndrome' 'Blackfan-Diamond anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Blackfan-Diamond anemia' SubClassOf 'Disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0000892 colon medullary carcinoma 'colon medullary carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020794 http://www.orpha.net/ORDO/Orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_2273 Ichthyosis follicularis - alopecia - photophobia 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'X-linked ichthyosis syndrome' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'genetic alopecia' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'X-linked ichthyosis syndrome' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'genetic alopecia' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0042485 infective arthritis 'infective arthritis' EquivalentTo 'arthritis' and ('realized in response to stimulus' some 'infectious disease') 'infective arthritis' SubClassOf 'realized in response to stimulus' some 'infectious disease' 'infective arthritis' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_425 Apolipoprotein A-I deficiency 'Apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'Apolipoprotein A-I deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100189 http://purl.obolibrary.org/obo/MONDO_0032918 epileptic encephalopathy, early infantile, 84 'epileptic encephalopathy, early infantile, 84' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 84' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032903 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 'arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum' SubClassOf 'Arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Kaposi sarcoma, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://purl.obolibrary.org/obo/MONDO_0032895 epileptic encephalopathy, early infantile, 83 'epileptic encephalopathy, early infantile, 83' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 83' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_485 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' SubClassOf 'autosomal dominant disease' 'Langer-Giedion syndrome' SubClassOf 'Rare genetic neurological disorder' 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_0003888 attention deficit hyperactivity disorder 'attention deficit hyperactivity disorder' SubClassOf 'specific developmental disorder' 'attention deficit hyperactivity disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007743 http://purl.obolibrary.org/obo/MONDO_0030059 epileptic encephalopathy, early infantile, 87 'epileptic encephalopathy, early infantile, 87' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 87' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030054 epileptic encephalopathy, early infantile, 86 'epileptic encephalopathy, early infantile, 86' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 86' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_254704 Genetic hyperferritinemia without iron overload 'Genetic hyperferritinemia without iron overload' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030062 arrhythmogenic right ventricular dysplasia, familial, 14 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'Arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'autosomal dominant disease' 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0019471 adult T-cell leukemia/lymphoma 'adult T-cell leukemia/lymphoma' SubClassOf 'skin disease caused by infection' 'adult T-cell leukemia/lymphoma' SubClassOf 'Human T-lymphotropic virus 1 infectious disease' http://www.orpha.net/ORDO/Orphanet_93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_353217 Epileptic encephalopathy with global cerebral demyelination 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Early infantile epileptic encephalopathy' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0054845 epileptic encephalopathy, early infantile, 66 'epileptic encephalopathy, early infantile, 66' SubClassOf 'Early infantile epileptic encephalopathy' 'epileptic encephalopathy, early infantile, 66' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0004225 Coronary Vasospasm 'Coronary Vasospasm' SubClassOf 'coronary artery disease' 'Coronary Vasospasm' SubClassOf 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_0004227 Dengue Hemorrhagic Fever 'Dengue Hemorrhagic Fever' SubClassOf 'viral hemorrhagic fever' http://purl.obolibrary.org/obo/MONDO_0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' http://www.orpha.net/ORDO/Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'autosomal dominant disease' 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'autosomal dominant disease' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'autosomal dominant disease' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 'intellectual disability, autosomal dominant 9' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.ebi.ac.uk/efo/EFO_0008796 MARS-seq 'MARS-seq' SubClassOf 'library preparation' 'MARS-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0008780 inDrop 'inDrop' SubClassOf 'library preparation' 'inDrop' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'autosomal dominant disease' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'DYRK1A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100172 http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Early infantile epileptic encephalopathy' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Neonatal epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_88949 Autosomal dominant medullary cystic kidney disease without hyperuricemia 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' http://www.orpha.net/ORDO/Orphanet_98362 Constitutional sideroblastic anemia 'Constitutional sideroblastic anemia' EquivalentTo 'sideroblastic anemia' and ('has modifier' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0008919 Seq-Well 'Seq-Well' SubClassOf 'library preparation' 'Seq-Well' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0008904 scATAC-seq (Microfluidics) 'scATAC-seq (Microfluidics)' SubClassOf 'DNA assay' 'scATAC-seq (Microfluidics)' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010891 http://www.ebi.ac.uk/efo/EFO_0008905 scBS-seq 'scBS-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0008906 scChIP-seq 'scChIP-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0008930 Smart-seq 'Smart-seq' SubClassOf 'library preparation' 'Smart-seq' SubClassOf 'Smart-like' http://www.ebi.ac.uk/efo/EFO_0008931 Smart-seq2 'Smart-seq2' SubClassOf 'library preparation' 'Smart-seq2' SubClassOf 'Smart-like' http://www.ebi.ac.uk/efo/EFO_0008925 Single cell ATAC-seq (cell index) 'Single cell ATAC-seq (cell index)' SubClassOf 'DNA assay' 'Single cell ATAC-seq (cell index)' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010891 http://purl.obolibrary.org/obo/MONDO_0008553 platelet-type bleeding disorder 17 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0008560 thrombophilia due to activated protein C resistance 'thrombophilia due to activated protein C resistance' SubClassOf 'coagulation protein disease' 'thrombophilia due to activated protein C resistance' SubClassOf 'thrombophilia' 'thrombophilia due to activated protein C resistance' SubClassOf 'Rare genetic coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0033549 optic atrophy 12 'optic atrophy 12' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033547 Li-Ghorbani-Weisz-Hubshman syndrome 'Li-Ghorbani-Weisz-Hubshman syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033546 neurodegeneration, infantile-onset, biotin-responsive 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033545 mitochondrial DNA depletion syndrome 19 'mitochondrial DNA depletion syndrome 19' SubClassOf 'Mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0033544 Tolchin-Le Caignec syndrome 'Tolchin-Le Caignec syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033542 immunodeficiency 70 'immunodeficiency 70' SubClassOf 'genetic disorder' 'immunodeficiency 70' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0033541 immunodeficiency 69 'immunodeficiency 69' SubClassOf 'genetic disorder' 'immunodeficiency 69' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0033537 combined oxidative phosphorylation deficiency 47 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033534 combined oxidative phosphorylation deficiency 46 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033533 combined oxidative phosphorylation deficiency 45 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033532 Suleiman-El-Hattab syndrome 'Suleiman-El-Hattab syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033551 immunodeficiency 72 with autoinflammation 'immunodeficiency 72 with autoinflammation' SubClassOf 'immunodeficiency disease' 'immunodeficiency 72 with autoinflammation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008057 Carney complex, type 1 'Carney complex, type 1' SubClassOf 'Carney complex' http://purl.obolibrary.org/obo/MONDO_0023692 maple syrup urine disease type 1B 'maple syrup urine disease type 1B' SubClassOf 'Maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0023691 maple syrup urine disease type 1A 'maple syrup urine disease type 1A' SubClassOf 'Maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0033014 erythrokeratodermia variabilis et progressiva 4 'erythrokeratodermia variabilis et progressiva 4' SubClassOf 'Erythrokeratodermia variabilis' http://purl.obolibrary.org/obo/MONDO_0060650 Leber congenital amaurosis with early-onset deafness 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0011484 catecholaminergic polymorphic ventricular tachycardia 1 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf 'Catecholaminergic polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0014326 nemaline myopathy 9 'nemaline myopathy 9' SubClassOf 'Intermediate nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'Childhood-onset nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'Severe congenital nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'Typical nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0014418 myopathy, centronuclear, 5 'myopathy, centronuclear, 5' SubClassOf 'Autosomal recessive centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0014138 nemaline myopathy 8 'nemaline myopathy 8' SubClassOf 'Severe congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant 'intellectual disability, autosomal dominant' SubClassOf 'autosomal dominant disease' 'intellectual disability, autosomal dominant' SubClassOf 'developmental disorder of mental health' 'intellectual disability, autosomal dominant' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency 'apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0100210 growth hormone insensitivity syndrome with immune dysregulation 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'Growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0100212 IFAP syndrome 'IFAP syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'Alopecia' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'Recessive X-linked ichthyosis' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'syndromic recessive X-linked ichthyosis' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0100218 arthrogryposis multiplex congenita 5 'arthrogryposis multiplex congenita 5' SubClassOf 'Arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 'growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' http://purl.obolibrary.org/obo/MONDO_0012538 nemaline myopathy 7 'nemaline myopathy 7' SubClassOf 'Typical nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia complementation group N 'Fanconi anemia complementation group N' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0010851 HG02852 'HG02852' SubClassOf 'has_quality' some 'female' 'HG02852' SubClassOf 'lymphoblastoid cell line' 'HG02852' SubClassOf 'blood component' 'HG02852' SubClassOf 'part of' some 'blood' 'HG02852' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010852 HG02870 'HG02870' SubClassOf 'has_quality' some 'female' 'HG02870' SubClassOf 'part of' some 'blood' 'HG02870' SubClassOf 'blood component' 'HG02870' SubClassOf 'lymphoblastoid cell line' 'HG02870' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010850 HG02840 'HG02840' SubClassOf 'blood component' 'HG02840' SubClassOf 'part of' some 'blood' 'HG02840' SubClassOf 'lymphoblastoid cell line' 'HG02840' SubClassOf 'has_quality' some 'female' 'HG02840' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010859 HG02981 'HG02981' SubClassOf 'has_quality' some 'male' 'HG02981' SubClassOf 'lymphoblastoid cell line' 'HG02981' SubClassOf 'blood component' 'HG02981' SubClassOf 'part of' some 'Homo sapiens' 'HG02981' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010857 HG02970 'HG02970' SubClassOf 'has_quality' some 'female' 'HG02970' SubClassOf 'lymphoblastoid cell line' 'HG02970' SubClassOf 'blood component' 'HG02970' SubClassOf 'part of' some 'blood' 'HG02970' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010858 HG02973 'HG02973' SubClassOf 'has_quality' some 'male' 'HG02973' SubClassOf 'part of' some 'blood' 'HG02973' SubClassOf 'part of' some 'Homo sapiens' 'HG02973' SubClassOf 'lymphoblastoid cell line' 'HG02973' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010855 HG02938 'HG02938' SubClassOf 'has_quality' some 'male' 'HG02938' SubClassOf 'lymphoblastoid cell line' 'HG02938' SubClassOf 'part of' some 'blood' 'HG02938' SubClassOf 'blood component' 'HG02938' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010856 HG02943 'HG02943' SubClassOf 'lymphoblastoid cell line' 'HG02943' SubClassOf 'part of' some 'Homo sapiens' 'HG02943' SubClassOf 'part of' some 'blood' 'HG02943' SubClassOf 'has_quality' some 'female' 'HG02943' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010853 HG02884 'HG02884' SubClassOf 'has_quality' some 'male' 'HG02884' SubClassOf 'part of' some 'Homo sapiens' 'HG02884' SubClassOf 'part of' some 'blood' 'HG02884' SubClassOf 'lymphoblastoid cell line' 'HG02884' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010854 HG02885 'HG02885' SubClassOf 'blood component' 'HG02885' SubClassOf 'has_quality' some 'female' 'HG02885' SubClassOf 'lymphoblastoid cell line' 'HG02885' SubClassOf 'part of' some 'Homo sapiens' 'HG02885' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010840 GM21786 'GM21786' SubClassOf 'has_quality' some 'female' 'GM21786' SubClassOf 'lymphoblastoid cell line' 'GM21786' SubClassOf 'part of' some 'Homo sapiens' 'GM21786' SubClassOf 'blood component' 'GM21786' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010841 HG02571 'HG02571' SubClassOf 'has_quality' some 'female' 'HG02571' SubClassOf 'blood component' 'HG02571' SubClassOf 'lymphoblastoid cell line' 'HG02571' SubClassOf 'part of' some 'Homo sapiens' 'HG02571' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010848 HG02763 'HG02763' SubClassOf 'lymphoblastoid cell line' 'HG02763' SubClassOf 'part of' some 'Homo sapiens' 'HG02763' SubClassOf 'part of' some 'blood' 'HG02763' SubClassOf 'has_quality' some 'female' 'HG02763' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010849 HG02798 'HG02798' SubClassOf 'has_quality' some 'male' 'HG02798' SubClassOf 'blood component' 'HG02798' SubClassOf 'part of' some 'blood' 'HG02798' SubClassOf 'lymphoblastoid cell line' 'HG02798' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010846 HG02678 'HG02678' SubClassOf 'part of' some 'Homo sapiens' 'HG02678' SubClassOf 'has_quality' some 'male' 'HG02678' SubClassOf 'blood component' 'HG02678' SubClassOf 'part of' some 'blood' 'HG02678' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010847 HG02759 'HG02759' SubClassOf 'blood component' 'HG02759' SubClassOf 'part of' some 'blood' 'HG02759' SubClassOf 'has_quality' some 'male' 'HG02759' SubClassOf 'lymphoblastoid cell line' 'HG02759' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010844 HG02623 'HG02623' SubClassOf 'lymphoblastoid cell line' 'HG02623' SubClassOf 'blood component' 'HG02623' SubClassOf 'has_quality' some 'male' 'HG02623' SubClassOf 'part of' some 'Homo sapiens' 'HG02623' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010845 HG02642 'HG02642' SubClassOf 'part of' some 'blood' 'HG02642' SubClassOf 'blood component' 'HG02642' SubClassOf 'has_quality' some 'male' 'HG02642' SubClassOf 'part of' some 'Homo sapiens' 'HG02642' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010842 HG02588 'HG02588' SubClassOf 'has_quality' some 'male' 'HG02588' SubClassOf 'blood component' 'HG02588' SubClassOf 'part of' some 'Homo sapiens' 'HG02588' SubClassOf 'part of' some 'blood' 'HG02588' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010843 HG02610 'HG02610' SubClassOf 'lymphoblastoid cell line' 'HG02610' SubClassOf 'blood component' 'HG02610' SubClassOf 'part of' some 'Homo sapiens' 'HG02610' SubClassOf 'has_quality' some 'male' 'HG02610' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010873 HG03175 'HG03175' SubClassOf 'part of' some 'blood' 'HG03175' SubClassOf 'blood component' 'HG03175' SubClassOf 'lymphoblastoid cell line' 'HG03175' SubClassOf 'part of' some 'Homo sapiens' 'HG03175' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0010874 HG03196 'HG03196' SubClassOf 'part of' some 'blood' 'HG03196' SubClassOf 'lymphoblastoid cell line' 'HG03196' SubClassOf 'has_quality' some 'male' 'HG03196' SubClassOf 'blood component' 'HG03196' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010871 HG03139 'HG03139' SubClassOf 'has_quality' some 'male' 'HG03139' SubClassOf 'part of' some 'Homo sapiens' 'HG03139' SubClassOf 'blood component' 'HG03139' SubClassOf 'lymphoblastoid cell line' 'HG03139' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010872 HG03159 'HG03159' SubClassOf 'part of' some 'Homo sapiens' 'HG03159' SubClassOf 'blood component' 'HG03159' SubClassOf 'has_quality' some 'female' 'HG03159' SubClassOf 'lymphoblastoid cell line' 'HG03159' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010870 HG03135 'HG03135' SubClassOf 'part of' some 'Homo sapiens' 'HG03135' SubClassOf 'lymphoblastoid cell line' 'HG03135' SubClassOf 'has_quality' some 'female' 'HG03135' SubClassOf 'part of' some 'blood' 'HG03135' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010879 HG03432 'HG03432' SubClassOf 'part of' some 'Homo sapiens' 'HG03432' SubClassOf 'has_quality' some 'male' 'HG03432' SubClassOf 'part of' some 'blood' 'HG03432' SubClassOf 'lymphoblastoid cell line' 'HG03432' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010877 HG03354 'HG03354' SubClassOf 'blood component' 'HG03354' SubClassOf 'has_quality' some 'female' 'HG03354' SubClassOf 'part of' some 'blood' 'HG03354' SubClassOf 'lymphoblastoid cell line' 'HG03354' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010878 HG03378 'HG03378' SubClassOf 'blood component' 'HG03378' SubClassOf 'lymphoblastoid cell line' 'HG03378' SubClassOf 'part of' some 'Homo sapiens' 'HG03378' SubClassOf 'has_quality' some 'female' 'HG03378' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010875 HG03280 'HG03280' SubClassOf 'blood component' 'HG03280' SubClassOf 'part of' some 'Homo sapiens' 'HG03280' SubClassOf 'part of' some 'blood' 'HG03280' SubClassOf 'has_quality' some 'male' 'HG03280' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010876 HG03342 'HG03342' SubClassOf 'lymphoblastoid cell line' 'HG03342' SubClassOf 'blood component' 'HG03342' SubClassOf 'part of' some 'Homo sapiens' 'HG03342' SubClassOf 'part of' some 'blood' 'HG03342' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0010862 HG03045 'HG03045' SubClassOf 'part of' some 'Homo sapiens' 'HG03045' SubClassOf 'part of' some 'blood' 'HG03045' SubClassOf 'has_quality' some 'male' 'HG03045' SubClassOf 'blood component' 'HG03045' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010863 HG03060 'HG03060' SubClassOf 'blood component' 'HG03060' SubClassOf 'has_quality' some 'male' 'HG03060' SubClassOf 'part of' some 'blood' 'HG03060' SubClassOf 'part of' some 'Homo sapiens' 'HG03060' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010860 HG03025 'HG03025' SubClassOf 'blood component' 'HG03025' SubClassOf 'part of' some 'blood' 'HG03025' SubClassOf 'lymphoblastoid cell line' 'HG03025' SubClassOf 'has_quality' some 'female' 'HG03025' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010861 HG03039 'HG03039' SubClassOf 'has_quality' some 'male' 'HG03039' SubClassOf 'lymphoblastoid cell line' 'HG03039' SubClassOf 'part of' some 'blood' 'HG03039' SubClassOf 'part of' some 'Homo sapiens' 'HG03039' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010868 HG03103 'HG03103' SubClassOf 'lymphoblastoid cell line' 'HG03103' SubClassOf 'part of' some 'blood' 'HG03103' SubClassOf 'blood component' 'HG03103' SubClassOf 'part of' some 'Homo sapiens' 'HG03103' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0010869 HG03108 'HG03108' SubClassOf 'blood component' 'HG03108' SubClassOf 'lymphoblastoid cell line' 'HG03108' SubClassOf 'has_quality' some 'female' 'HG03108' SubClassOf 'part of' some 'blood' 'HG03108' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010866 HG03095 'HG03095' SubClassOf 'part of' some 'Homo sapiens' 'HG03095' SubClassOf 'part of' some 'blood' 'HG03095' SubClassOf 'lymphoblastoid cell line' 'HG03095' SubClassOf 'blood component' 'HG03095' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0010867 HG03097 'HG03097' SubClassOf 'lymphoblastoid cell line' 'HG03097' SubClassOf 'has_quality' some 'female' 'HG03097' SubClassOf 'blood component' 'HG03097' SubClassOf 'part of' some 'Homo sapiens' 'HG03097' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010864 HG03064 'HG03064' SubClassOf 'has_quality' some 'female' 'HG03064' SubClassOf 'blood component' 'HG03064' SubClassOf 'lymphoblastoid cell line' 'HG03064' SubClassOf 'part of' some 'Homo sapiens' 'HG03064' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010865 HG03066 'HG03066' SubClassOf 'blood component' 'HG03066' SubClassOf 'has_quality' some 'male' 'HG03066' SubClassOf 'part of' some 'blood' 'HG03066' SubClassOf 'part of' some 'Homo sapiens' 'HG03066' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010895 stromal cell of lamina propria of small intestine 'stromal cell of lamina propria of small intestine' SubClassOf 'stromal cell' 'stromal cell of lamina propria of small intestine' EquivalentTo 'stromal cell' and ('part of' some 'lamina propria of small intestine') http://www.ebi.ac.uk/efo/EFO_0010896 small intestine Peyer's patch T cell 'small intestine Peyer's patch T cell' SubClassOf 'mature T cell' 'small intestine Peyer's patch T cell' EquivalentTo 'mature T cell' and ('part of' some 'small intestine Peyer's patch') http://www.ebi.ac.uk/efo/EFO_0010894 stromal cell of lamina propria of large intestine 'stromal cell of lamina propria of large intestine' SubClassOf 'stromal cell' 'stromal cell of lamina propria of large intestine' EquivalentTo 'stromal cell' and ('part of' some 'lamina propria of large intestine') http://www.ebi.ac.uk/efo/EFO_0010891 scATAC-seq 'scATAC-seq' SubClassOf 'single cell library construction' 'scATAC-seq' SubClassOf 'ATAC-seq' http://www.ebi.ac.uk/efo/EFO_0010892 hydrolisis collection protocol 'hydrolisis collection protocol' SubClassOf 'protocol' http://www.ebi.ac.uk/efo/EFO_0010890 HG03575 'HG03575' SubClassOf 'part of' some 'blood' 'HG03575' SubClassOf 'lymphoblastoid cell line' 'HG03575' SubClassOf 'has_quality' some 'female' 'HG03575' SubClassOf 'blood component' 'HG03575' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010897 mesothelial cell of small intestine 'mesothelial cell of small intestine' SubClassOf 'mesothelial cell' 'mesothelial cell of small intestine' SubClassOf 'intestinal epithelial cell' 'mesothelial cell of small intestine' EquivalentTo 'mesothelial cell' and ('part of' some 'small intestine') http://www.ebi.ac.uk/efo/EFO_0010898 mesothelial cell of large intestine 'mesothelial cell of large intestine' SubClassOf 'mesothelial cell' 'mesothelial cell of large intestine' EquivalentTo 'mesothelial cell' and ('part of' some 'large intestine') 'mesothelial cell of large intestine' SubClassOf 'epithelial cell of large intestine' http://www.ebi.ac.uk/efo/EFO_0010884 HG03469 'HG03469' SubClassOf 'lymphoblastoid cell line' 'HG03469' SubClassOf 'part of' some 'blood' 'HG03469' SubClassOf 'part of' some 'Homo sapiens' 'HG03469' SubClassOf 'has_quality' some 'male' 'HG03469' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010885 HG03520 'HG03520' SubClassOf 'part of' some 'Homo sapiens' 'HG03520' SubClassOf 'has_quality' some 'female' 'HG03520' SubClassOf 'part of' some 'blood' 'HG03520' SubClassOf 'lymphoblastoid cell line' 'HG03520' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010882 HG03457 'HG03457' SubClassOf 'blood component' 'HG03457' SubClassOf 'part of' some 'blood' 'HG03457' SubClassOf 'part of' some 'Homo sapiens' 'HG03457' SubClassOf 'has_quality' some 'male' 'HG03457' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010883 HG03460 'HG03460' SubClassOf 'lymphoblastoid cell line' 'HG03460' SubClassOf 'blood component' 'HG03460' SubClassOf 'part of' some 'blood' 'HG03460' SubClassOf 'part of' some 'Homo sapiens' 'HG03460' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0010880 HG03439 'HG03439' SubClassOf 'part of' some 'Homo sapiens' 'HG03439' SubClassOf 'has_quality' some 'male' 'HG03439' SubClassOf 'lymphoblastoid cell line' 'HG03439' SubClassOf 'part of' some 'blood' 'HG03439' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010881 HG03442 'HG03442' SubClassOf 'lymphoblastoid cell line' 'HG03442' SubClassOf 'part of' some 'Homo sapiens' 'HG03442' SubClassOf 'has_quality' some 'male' 'HG03442' SubClassOf 'blood component' 'HG03442' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010888 HG03565 'HG03565' SubClassOf 'lymphoblastoid cell line' 'HG03565' SubClassOf 'has_quality' some 'male' 'HG03565' SubClassOf 'part of' some 'Homo sapiens' 'HG03565' SubClassOf 'part of' some 'blood' 'HG03565' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010889 HG03571 'HG03571' SubClassOf 'part of' some 'blood' 'HG03571' SubClassOf 'blood component' 'HG03571' SubClassOf 'part of' some 'Homo sapiens' 'HG03571' SubClassOf 'lymphoblastoid cell line' 'HG03571' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0010886 HG03521 'HG03521' SubClassOf 'part of' some 'blood' 'HG03521' SubClassOf 'part of' some 'Homo sapiens' 'HG03521' SubClassOf 'has_quality' some 'male' 'HG03521' SubClassOf 'blood component' 'HG03521' SubClassOf 'lymphoblastoid cell line' http://www.ebi.ac.uk/efo/EFO_0010887 HG03558 'HG03558' SubClassOf 'blood component' 'HG03558' SubClassOf 'lymphoblastoid cell line' 'HG03558' SubClassOf 'has_quality' some 'female' 'HG03558' SubClassOf 'part of' some 'blood' 'HG03558' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010830 lobular capilliary hemangioma 'lobular capilliary hemangioma' SubClassOf 'capillary hemangioma' http://www.ebi.ac.uk/efo/EFO_0010839 GM21737 'GM21737' SubClassOf 'lymphoblastoid cell line' 'GM21737' SubClassOf 'part of' some 'Homo sapiens' 'GM21737' SubClassOf 'has_quality' some 'male' 'GM21737' SubClassOf 'blood component' 'GM21737' SubClassOf 'part of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0010837 GM19043 'GM19043' SubClassOf 'lymphoblastoid cell line' 'GM19043' SubClassOf 'part of' some 'blood' 'GM19043' SubClassOf 'part of' some 'Homo sapiens' 'GM19043' SubClassOf 'has_quality' some 'male' 'GM19043' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010838 GM21515 'GM21515' SubClassOf 'blood component' 'GM21515' SubClassOf 'has_quality' some 'male' 'GM21515' SubClassOf 'lymphoblastoid cell line' 'GM21515' SubClassOf 'part of' some 'blood' 'GM21515' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010835 GM19023 'GM19023' SubClassOf 'lymphoblastoid cell line' 'GM19023' SubClassOf 'part of' some 'blood' 'GM19023' SubClassOf 'has_quality' some 'female' 'GM19023' SubClassOf 'part of' some 'Homo sapiens' 'GM19023' SubClassOf 'blood component' http://www.ebi.ac.uk/efo/EFO_0010836 GM19025 'GM19025' SubClassOf 'part of' some 'blood' 'GM19025' SubClassOf 'lymphoblastoid cell line' 'GM19025' SubClassOf 'blood component' 'GM19025' SubClassOf 'has_quality' some 'male' 'GM19025' SubClassOf 'part of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0010833 uterine corpus undifferentiated sarcoma 'uterine corpus undifferentiated sarcoma' SubClassOf 'uterine sarcoma' http://www.ebi.ac.uk/efo/EFO_0010834 tumor necrosis factor measurement 'tumor necrosis factor measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010831 testicular mixed germ cell tumor 'testicular mixed germ cell tumor' SubClassOf 'mixed germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0010832 primary central chondrosarcoma 'primary central chondrosarcoma' SubClassOf 'bone chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0014916 developmental and epileptic encephalopathy, 41 'developmental and epileptic encephalopathy, 41' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'Early myoclonic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'Familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0012363 retinitis pigmentosa 32 'retinitis pigmentosa 32' SubClassOf 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group j 'Fanconi anemia complementation group j' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0014836 Charcot-Marie-Tooth disease axonal type 2CC 'Charcot-Marie-Tooth disease axonal type 2CC' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0012237 nemaline myopathy 6 'nemaline myopathy 6' SubClassOf 'Childhood-onset nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0026768 warfarin sensitivity, x-linked 'warfarin sensitivity, x-linked' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0026767 immunodeficiency 74, covid19-related, x-linked 'immunodeficiency 74, covid19-related, x-linked' SubClassOf 'genetic disorder' 'immunodeficiency 74, covid19-related, x-linked' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0012132 colorectal cancer, susceptibility to, 1 'colorectal cancer, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0014536 thrombocytopenia 5 'thrombocytopenia 5' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/UBERON_0003454 small intestine Peyer's patch 'small intestine Peyer's patch' EquivalentTo 'Peyer's patch' and ('part of' some 'small intestine') 'small intestine Peyer's patch' SubClassOf 'Peyer's patch' http://purl.obolibrary.org/obo/MONDO_0010427 syndromic X-linked intellectual disability Raymond type 'syndromic X-linked intellectual disability Raymond type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/UBERON_0001238 lamina propria of small intestine 'lamina propria of small intestine' SubClassOf 'anatomical structure' 'lamina propria of small intestine' SubClassOf 'part of' some 'mucosa' http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'autosomal recessive disease' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic genetic deafness' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007883 lazy leukocyte syndrome 'lazy leukocyte syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0011189 lamina propria of large intestine 'lamina propria of large intestine' SubClassOf 'part of' some 'mucosa' 'lamina propria of large intestine' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0007903 Li-Fraumeni syndrome 1 'Li-Fraumeni syndrome 1' SubClassOf 'Li-Fraumeni syndrome' http://purl.obolibrary.org/obo/MONDO_0007743 attention deficit-hyperactivity disorder 'attention deficit-hyperactivity disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0020794 colorectal medullary carcinoma 'colorectal medullary carcinoma' SubClassOf 'colorectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0030134 oculopharyngodistal myopathy 2 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' http://purl.obolibrary.org/obo/MONDO_0030070 heterotaxy, visceral, 9, autosomal, with male infertility 'heterotaxy, visceral, 9, autosomal, with male infertility' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0030072 developmental and epileptic encephalopathy, 88 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030071 retinitis pigmentosa 89 'retinitis pigmentosa 89' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030074 spondylometaphyseal dysplasia with corneal dystrophy 'spondylometaphyseal dysplasia with corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030073 Mitchell syndrome 'Mitchell syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030067 treacher collins syndrome 4 'treacher collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' http://purl.obolibrary.org/obo/MONDO_0030066 granulomatous disease, chronic, autosomal recessive, 5 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'Chronic granulomatous disease' http://purl.obolibrary.org/obo/MONDO_0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive 'hyper-IgE recurrent infection syndrome 5, autosomal recessive' SubClassOf 'Hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030064 episodic ataxia, type 9 'episodic ataxia, type 9' SubClassOf 'Hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0044316 thrombocytopenia, anemia, and myelofibrosis 'thrombocytopenia, anemia, and myelofibrosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013081 lymphoproliferative syndrome 1 'lymphoproliferative syndrome 1' SubClassOf 'Autosomal recessive lymphoproliferative disease' http://purl.obolibrary.org/obo/MONDO_0013972 Perrault syndrome 2 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0011173 thrombocythemia 2 'thrombocythemia 2' SubClassOf 'thrombocytosis disease' 'thrombocythemia 2' SubClassOf 'Familial thrombocytosis' 'thrombocythemia 2' SubClassOf 'essential thrombocythemia' http://purl.obolibrary.org/obo/MONDO_0013555 Hermansky-Pudlak syndrome 3 'Hermansky-Pudlak syndrome 3' SubClassOf 'Hermansky-Pudlak syndrome without pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L 'Fanconi anemia complementation group L' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 'developmental and epileptic encephalopathy, 12' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 12' SubClassOf 'West syndrome' 'developmental and epileptic encephalopathy, 12' SubClassOf 'Malignant migrating partial seizures of infancy' http://purl.obolibrary.org/obo/MONDO_0013196 colorectal cancer, hereditary nonpolyposis, type 8 'colorectal cancer, hereditary nonpolyposis, type 8' SubClassOf 'Lynch syndrome' http://purl.obolibrary.org/obo/MONDO_0025193 oculopharyngodistal myopathy 'oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' 'oculopharyngodistal myopathy' SubClassOf 'rare disorder with ptosis' 'oculopharyngodistal myopathy' SubClassOf 'Myopathy with eye involvement' 'oculopharyngodistal myopathy' SubClassOf 'Distal myopathy'