195 113 14 http://purl.obolibrary.org/obo/UBERON_0002335 macula densa 'macula densa' SubClassOf 'part of' some 'distal convoluted tubule' http://www.orpha.net/ORDO/Orphanet_94062 Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf 'Rare genetic cardiac disease' 'Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung 'alveolus of lung' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002169 http://www.orpha.net/ORDO/Orphanet_263463 CHST3-related skeletal dysplasia 'CHST3-related skeletal dysplasia' SubClassOf 'spondyloepimetaphyseal dysplasia' 'CHST3-related skeletal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'Coronaviridae infectious disease' 'severe acute respiratory syndrome' SubClassOf 'coronavirus infectious disease' http://purl.obolibrary.org/obo/UBERON_0002182 main bronchus 'main bronchus' SubClassOf 'part of' some 'bronchus' http://purl.obolibrary.org/obo/UBERON_0002185 bronchus 'bronchus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'Abnormality of connective tissue' 'Scarring alopecia of scalp' SubClassOf http://purl.obolibrary.org/obo/HP_0100699 http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole 'bronchiole' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://www.orpha.net/ORDO/Orphanet_1427 Otospondylomegaepiphyseal dysplasia 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0045070 digestive system melanoma 'digestive system melanoma' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0060702 spondyloepimetaphyseal dysplasia, di rocco type 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'hereditary connective tissue disorder' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/HP_0002153 Hyperkalemia 'Hyperkalemia' SubClassOf 'Abnormal blood ion concentration' http://www.orpha.net/ORDO/Orphanet_141253 Oblique facial cleft 'Oblique facial cleft' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_141269 Lateral facial cleft 'Lateral facial cleft' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_155896 Otomandibular dysplasia 'Otomandibular dysplasia' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0060582 auditory neuropathy and optic atrophy 'auditory neuropathy and optic atrophy' SubClassOf 'genetic disorder' 'auditory neuropathy and optic atrophy' SubClassOf 'Neurometabolic disease' 'auditory neuropathy and optic atrophy' SubClassOf 'autosomal recessive disease' 'auditory neuropathy and optic atrophy' SubClassOf 'Syndromic genetic deafness' 'auditory neuropathy and optic atrophy' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'auditory neuropathy and optic atrophy' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/HP_0002032 Esophageal atresia 'Esophageal atresia' SubClassOf 'Abnormal esophagus morphology' http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans 'islet of Langerhans' SubClassOf 'part of' some 'pancreas' http://purl.obolibrary.org/obo/UBERON_0000056 ureter 'ureter' SubClassOf 'part of' some 'kidney' http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus 'renal glomerulus' SubClassOf 'part of' some 'glomerular capsule' http://www.orpha.net/ORDO/Orphanet_1159 Progressive pseudorheumatoid arthropathy of childhood 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb 'vasa recta ascending limb' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004726 http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'rare lymphatic malformation' 'Gorham-Stout disease' SubClassOf 'Genetic vascular anomaly' 'Gorham-Stout disease' SubClassOf 'bone benign neoplasm' 'Gorham-Stout disease' SubClassOf 'rare genetic vascular tumor' 'Gorham-Stout disease' SubClassOf 'vascular bone neoplasm' 'Gorham-Stout disease' SubClassOf 'lymphangioma' http://www.orpha.net/ORDO/Orphanet_50 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Aicardi syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome 'Aicardi-Goutières syndrome' SubClassOf 'Moyamoya syndrome' http://www.ebi.ac.uk/efo/EFO_1000888 cystic lymphangioma 'cystic lymphangioma' SubClassOf 'lymphangioma' 'cystic lymphangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018720 http://purl.obolibrary.org/obo/HP_0000265 Mastoiditis 'Mastoiditis' SubClassOf 'Abnormal skull morphology' 'Mastoiditis' SubClassOf http://purl.obolibrary.org/obo/HP_0000264 http://www.ebi.ac.uk/efo/EFO_1000906 dry eye syndrome 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' http://purl.obolibrary.org/obo/FBbt_00017008 longitudinal visceral muscle primordium 'longitudinal visceral muscle primordium' SubClassOf 'Drosophila developmental tissue' 'longitudinal visceral muscle primordium' SubClassOf 'visceral muscle primordium' http://purl.obolibrary.org/obo/FBbt_00017003 visceral branch primordium 'visceral branch primordium' SubClassOf 'Drosophila developmental tissue' 'visceral branch primordium' SubClassOf 'primary segmental branch primordium' http://purl.obolibrary.org/obo/HP_0012382 Left-to-right shunt 'Left-to-right shunt' SubClassOf 'Cardiac shunt' 'Left-to-right shunt' SubClassOf 'Abnormality of blood circulation' http://www.ebi.ac.uk/efo/EFO_1000738 necrobiosis lipoidica 'necrobiosis lipoidica' SubClassOf 'skin disease' 'necrobiosis lipoidica' SubClassOf 'dermis disease' http://purl.obolibrary.org/obo/HP_0002910 Elevated hepatic transaminase 'Elevated hepatic transaminase' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/FBbt_00007049 head visceral muscle primordium 'head visceral muscle primordium' SubClassOf 'Drosophila developmental tissue' 'head visceral muscle primordium' SubClassOf 'visceral muscle primordium' http://www.orpha.net/ORDO/Orphanet_363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100089 http://purl.obolibrary.org/obo/HP_0000651 Diplopia 'Diplopia' SubClassOf 'Abnormality of vision' http://www.orpha.net/ORDO/Orphanet_67044 Thrombocytopenia with congenital dyserythropoietic anemia 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100089 http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000519 Salivary Gland Small Cell Carcinoma 'Salivary Gland Small Cell Carcinoma' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000513 Salivary Gland Acinic Cell Carcinoma 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'pancreatic neoplasm' http://www.orpha.net/ORDO/Orphanet_1865 Dyssegmental dysplasia, Silverman-Handmaker type 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb 'vasa recta descending limb' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004726 http://www.ebi.ac.uk/efo/EFO_0005214 neuroblastoma cell line 'neuroblastoma cell line' SubClassOf 'cultured cell' 'neuroblastoma cell line' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_391665 Homozygous familial hypercholesterolemia 'Homozygous familial hypercholesterolemia' SubClassOf 'hypercholesterolemia, familial, 1' 'Homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' http://www.orpha.net/ORDO/Orphanet_209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0002013 lymphangioma 'lymphangioma' SubClassOf 'rare lymphatic system malformation' http://www.orpha.net/ORDO/Orphanet_65743 Autosomal dominant multiple pterygium syndrome 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020937 http://www.ebi.ac.uk/efo/EFO_0005321 molar-incisor hypomineralization 'molar-incisor hypomineralization' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0016569 rare lymphatic malformation 'rare lymphatic malformation' SubClassOf 'rare lymphatic system malformation' http://purl.obolibrary.org/obo/HP_0020083 Furuncle 'Furuncle' SubClassOf 'Inflammatory abnormality of the skin' http://www.orpha.net/ORDO/Orphanet_401942 Familial median cleft of the upper and lower lips 'Familial median cleft of the upper and lower lips' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/FBbt_00004202 hindgut anlage 'hindgut anlage' SubClassOf 'part of' some 'posterior endoderm anlage' http://purl.obolibrary.org/obo/CL_1000271 lung ciliated cell 'lung ciliated cell' SubClassOf 'part of' some 'bronchus' http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary 'glomerular capillary' SubClassOf 'part of' some 'renal glomerulus' http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment 'loop of Henle ascending limb thin segment' SubClassOf 'part of' some 'loop of Henle' http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' 'gallbladder neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'central nervous system disease' 'Churg-Strauss syndrome' SubClassOf 'non-familial rare disease with dilated cardiomyopathy' 'Churg-Strauss syndrome' SubClassOf 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' 'Churg-Strauss syndrome' SubClassOf 'systemic inflammatory disease associated with an acquired peripheral neuropathy' 'Churg-Strauss syndrome' SubClassOf 'neurovascular disease' 'Churg-Strauss syndrome' SubClassOf 'secondary glomerular disease' 'Churg-Strauss syndrome' SubClassOf 'heart disease' 'Churg-Strauss syndrome' SubClassOf 'Granulomatosis with Polyangiitis' http://www.orpha.net/ORDO/Orphanet_36383 Familial vascular leukoencephalopathy 'Familial vascular leukoencephalopathy' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' 'Familial vascular leukoencephalopathy' SubClassOf 'brain disease' 'Familial vascular leukoencephalopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0014953 intellectual developmental disorder with cardiac arrhythmia 'intellectual developmental disorder with cardiac arrhythmia' SubClassOf 'genetic disorder' 'intellectual developmental disorder with cardiac arrhythmia' SubClassOf 'autosomal recessive disease' 'intellectual developmental disorder with cardiac arrhythmia' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole 'renal afferent arteriole' SubClassOf 'part of' some 'cortex of kidney' http://purl.obolibrary.org/obo/MONDO_0000184 congenital vitamin K-dependent coagulation factors combined deficiency 'congenital vitamin K-dependent coagulation factors combined deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole 'renal efferent arteriole' SubClassOf 'part of' some 'cortex of kidney' http://purl.obolibrary.org/obo/UBERON_0002048 lung 'lung' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_165994 Selective pituitary resistance to thyroid hormone 'Selective pituitary resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'Selective pituitary resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/MONDO_0034217 http://purl.obolibrary.org/obo/HP_0007777 Chorioretinal scar 'Chorioretinal scar' SubClassOf 'Abnormal choroid morphology' 'Chorioretinal scar' SubClassOf 'Abnormality of connective tissue' 'Chorioretinal scar' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/MONDO_0000110 bifid nose 'bifid nose' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery 'pharyngeal arch artery' SubClassOf 'artery' 'pharyngeal arch artery' SubClassOf 'respiratory system blood vessel' 'pharyngeal arch artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003469 http://www.ebi.ac.uk/efo/EFO_0007536 vesicoureteral reflux 'vesicoureteral reflux' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2641 Micromelic dwarfism, Fryns type 'Micromelic dwarfism, Fryns type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007117 angioedema, hereditary, type 1/2 'angioedema, hereditary, type 1/2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0027749 http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel 'respiratory system blood vessel' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease 'rare maxillo-facial surgical disease' SubClassOf 'head disease' 'rare maxillo-facial surgical disease' SubClassOf 'disease of facial skeleton' http://www.orpha.net/ORDO/Orphanet_178355 Smith-McCort dysplasia 'Smith-McCort dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/CL_0005019 pancreatic epsilon cell 'pancreatic epsilon cell' SubClassOf 'pancreactic component' 'pancreatic epsilon cell' SubClassOf 'part of' some 'islet of Langerhans' 'pancreatic epsilon cell' SubClassOf 'cell part' http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell 'renal alpha-intercalated cell' SubClassOf 'part of' some 'collecting duct of renal tubule' http://www.ebi.ac.uk/efo/EFO_1001049 mucoepidermoid tumor 'mucoepidermoid tumor' SubClassOf 'adenocarcinoma' 'mucoepidermoid tumor' SubClassOf 'cystic, mucinous, and serous neoplasm' http://www.ebi.ac.uk/efo/EFO_1001228 ureterolithiasis 'ureterolithiasis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_2134 Atypical hemolytic-uremic syndrome 'Atypical hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria due to a renal tubular defect 'histidinuria due to a renal tubular defect' SubClassOf 'Disorder of histidine metabolism' http://purl.obolibrary.org/obo/FBbt_00001724 prothoracic gland 'prothoracic gland' SubClassOf 'endocrine system component' http://purl.obolibrary.org/obo/FBbt_00001766 eye-antennal disc 'eye-antennal disc' SubClassOf 'Drosophila component' 'eye-antennal disc' SubClassOf 'imaginal disc' http://purl.obolibrary.org/obo/FBbt_00001768 eye disc 'eye disc' SubClassOf 'part of' some 'eye-antennal disc' 'eye disc' SubClassOf 'imaginal disc' http://purl.obolibrary.org/obo/FBbt_00001781 prothoracic leg disc 'prothoracic leg disc' SubClassOf 'imaginal disc' http://www.orpha.net/ORDO/Orphanet_116 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0000844 spondyloepimetaphyseal dysplasia 'spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/HP_0001075 Atrophic scars 'Atrophic scars' SubClassOf 'Abnormality of connective tissue' 'Atrophic scars' SubClassOf http://purl.obolibrary.org/obo/HP_0100699 http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla 'renal papilla' SubClassOf 'part of' some 'kidney pyramid' http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney 'cortex of kidney' SubClassOf 'part of' some 'kidney' http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule 'glomerular capsule' SubClassOf 'part of' some 'nephron' 'glomerular capsule' SubClassOf 'part of' some 'cortex of kidney' http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule 'collecting duct of renal tubule' SubClassOf 'part of' some 'kidney pyramid' http://www.ebi.ac.uk/efo/EFO_1001001 keratoconjunctivitis sicca 'keratoconjunctivitis sicca' SubClassOf 'keratoconjunctivitis' 'keratoconjunctivitis sicca' SubClassOf 'dry eye syndrome' http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus 'pancreatic acinus' SubClassOf 'anatomical structure' 'pancreatic acinus' SubClassOf 'pancreactic component' 'pancreatic acinus' SubClassOf 'part of' some 'pancreas' http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle 'loop of Henle' SubClassOf 'part of' some 'kidney pyramid' 'loop of Henle' SubClassOf 'part of' some 'nephron' http://purl.obolibrary.org/obo/UBERON_0001285 nephron 'nephron' SubClassOf 'part of' some 'kidney' http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule 'proximal convoluted tubule' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004134 http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle 'thick ascending limb of loop of Henle' SubClassOf 'part of' some 'loop of Henle' http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule 'distal convoluted tubule' SubClassOf 'part of' some 'nephron' http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule 'proximal straight tubule' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004134 'proximal straight tubule' SubClassOf 'part of' some 'kidney pyramid' http://www.orpha.net/ORDO/Orphanet_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'bone neoplasm' 'Goldenhar syndrome' SubClassOf 'skull neoplasm' http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell 'parietal epithelial cell' SubClassOf 'part of' some 'glomerular parietal epithelium' http://www.orpha.net/ORDO/Orphanet_239 Dyggve-Melchior-Clausen disease 'Dyggve-Melchior-Clausen disease' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_230 Dopamine beta-hydroxylase deficiency 'Dopamine beta-hydroxylase deficiency' SubClassOf 'primary orthostatic hypotension' 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021272 http://www.orpha.net/ORDO/Orphanet_229 Familial aortic dissection 'Familial aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 'keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy' SubClassOf 'genetic disorder' 'keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/MONDO_0007747 Hyperchlorhidrosis, isolated 'Hyperchlorhidrosis, isolated' SubClassOf 'genetic disorder' 'Hyperchlorhidrosis, isolated' SubClassOf 'autosomal recessive disease' 'Hyperchlorhidrosis, isolated' SubClassOf 'Genetic epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' http://www.orpha.net/ORDO/Orphanet_485 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0029134 immunodeficiency 58 'immunodeficiency 58' SubClassOf 'immunodeficiency disease' 'immunodeficiency 58' SubClassOf 'Lymphoproliferative syndrome' 'immunodeficiency 58' SubClassOf 'autosomal recessive disease' 'immunodeficiency 58' SubClassOf 'Severe combined immunodeficiency' http://purl.obolibrary.org/obo/UBERON_0001728 nasopharynx 'nasopharynx' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://purl.obolibrary.org/obo/UBERON_0001737 larynx 'larynx' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://www.orpha.net/ORDO/Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/HP_0001693 Cardiac shunt 'Cardiac shunt' SubClassOf 'Abnormality of blood circulation' http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf 'Riboflavin transporter deficiency' 'progressive bulbar palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024537 http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100091 http://www.orpha.net/ORDO/Orphanet_171866 Spondyloepimetaphyseal dysplasia, aggrecan type 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_156237 Syndrome or malformation associated with head and neck malformations 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_156224 Paralytic facial malformation 'Paralytic facial malformation' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_156212 Hypoglossia/aglossia 'Hypoglossia/aglossia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_156207 Macroglossia 'Macroglossia' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/HP_0001974 Leukocytosis 'Leukocytosis' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/MONDO_0007415 mitochondrial complex III deficiency nuclear type 1 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'Isolated CoQ-cytochrome C reductase deficiency' 'mitochondrial complex III deficiency nuclear type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020811 http://www.orpha.net/ORDO/Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_93335 Postaxial polydactyly type B 'Postaxial polydactyly type B' SubClassOf 'Postaxial polydactyly of fingers' 'Postaxial polydactyly type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020927 'Postaxial polydactyly type B' SubClassOf 'Postaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93334 Postaxial polydactyly type A 'Postaxial polydactyly type A' SubClassOf 'Postaxial polydactyly of fingers' 'Postaxial polydactyly type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020927 'Postaxial polydactyly type A' SubClassOf 'Postaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93349 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'spondyloepimetaphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93347 Anauxetic dysplasia 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Anauxetic dysplasia' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/CL_0000622 acinar cell 'acinar cell' SubClassOf 'pancreactic component' 'acinar cell' SubClassOf 'part of' some 'pancreatic acinus' http://www.orpha.net/ORDO/Orphanet_93352 Spondyloepimetaphyseal dysplasia, Shohat type 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93351 Spondyloepimetaphyseal dysplasia, Irapa type 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93357 SPONASTRIME dysplasia 'SPONASTRIME dysplasia' SubClassOf 'spondyloepimetaphyseal dysplasia' 'SPONASTRIME dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'SPONASTRIME dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93356 Spondyloepimetaphyseal dysplasia, Missouri type 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/CL_0000653 glomerular visceral epithelial cell 'glomerular visceral epithelial cell' SubClassOf 'part of' some 'renal glomerulus' http://purl.obolibrary.org/obo/CL_0000650 mesangial cell 'mesangial cell' SubClassOf 'part of' some 'renal glomerulus' http://purl.obolibrary.org/obo/HP_0001880 Eosinophilia 'Eosinophilia' SubClassOf 'Leukocytosis' 'Eosinophilia' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/BTO_0004298 corneal epithelial cell 'corneal epithelial cell' SubClassOf 'cell type' 'corneal epithelial cell' SubClassOf 'epithelial cell' http://www.orpha.net/ORDO/Orphanet_168448 Spondyloepimetaphyseal dysplasia, Bieganski type 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001818 oral submucous fibrosis 'oral submucous fibrosis' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/FBbt_00005746 embryonic leading edge cell 'embryonic leading edge cell' SubClassOf 'part of' some 'embryonic dorsal epidermis' http://www.orpha.net/ORDO/Orphanet_353298 Roifman syndrome 'Roifman syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Roifman syndrome' SubClassOf 'X-linked spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct 'pancreatic duct' SubClassOf 'anatomical structure' 'pancreatic duct' SubClassOf 'pancreactic component' 'pancreatic duct' SubClassOf 'part of' some 'pancreas' http://purl.obolibrary.org/obo/UBERON_0009970 epithelium of pancreatic duct 'epithelium of pancreatic duct' SubClassOf 'pancreactic component' http://purl.obolibrary.org/obo/FBbt_00005614 embryonic epipharynx 'embryonic epipharynx' SubClassOf 'part of' some 'embryonic foregut' http://purl.obolibrary.org/obo/FBbt_00005612 embryonic esophagus 'embryonic esophagus' SubClassOf 'part of' some 'embryonic foregut' http://purl.obolibrary.org/obo/FBbt_00005616 embryonic foregut sensory structure 'embryonic foregut sensory structure' SubClassOf 'part of' some 'embryonic foregut' http://purl.obolibrary.org/obo/CL_0002633 respiratory basal cell 'respiratory basal cell' SubClassOf 'part of' some 'bronchus' http://purl.obolibrary.org/obo/FBbt_00005646 adult hindgut precursor 'adult hindgut precursor' SubClassOf 'part of' some 'embryonic hindgut' http://purl.obolibrary.org/obo/FBbt_00005669 embryonic hypocerebral ganglion 'embryonic hypocerebral ganglion' SubClassOf 'part of' some 'embryonic stomatogastric nervous system' http://purl.obolibrary.org/obo/FBbt_00005667 embryonic central brain pars intercerebralis 'embryonic central brain pars intercerebralis' SubClassOf 'part of' some 'embryonic central brain' http://purl.obolibrary.org/obo/FBbt_00005668 embryonic frontal ganglion 'embryonic frontal ganglion' SubClassOf 'part of' some 'embryonic stomatogastric nervous system' http://purl.obolibrary.org/obo/FBbt_00005665 embryonic central brain neuron 'embryonic central brain neuron' SubClassOf 'part of' some 'embryonic central brain' http://purl.obolibrary.org/obo/FBbt_00005663 embryonic central brain glia 'embryonic central brain glia' SubClassOf 'part of' some 'embryonic central brain' http://purl.obolibrary.org/obo/FBbt_00005664 embryonic central brain surface glia 'embryonic central brain surface glia' SubClassOf 'embryonic structure' 'embryonic central brain surface glia' SubClassOf 'embryonic central brain glia' http://purl.obolibrary.org/obo/FBbt_00005670 embryonic esophageal ganglion 'embryonic esophageal ganglion' SubClassOf 'embryonic structure' 'embryonic esophageal ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CL_0000158 club cell 'club cell' SubClassOf 'part of' some 'bronchus' http://purl.obolibrary.org/obo/CL_0000173 pancreatic D cell 'pancreatic D cell' SubClassOf 'part of' some 'islet of Langerhans' 'pancreatic D cell' SubClassOf 'pancreactic component' 'pancreatic D cell' SubClassOf 'cell part' http://purl.obolibrary.org/obo/CL_0000171 pancreatic A cell 'pancreatic A cell' SubClassOf 'pancreactic component' 'pancreatic A cell' SubClassOf 'part of' some 'islet of Langerhans' 'pancreatic A cell' SubClassOf 'cell part' http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy 'non-familial rare disease with dilated cardiomyopathy' SubClassOf 'non-familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/FBbt_00005824 lateral cord surface glia 'lateral cord surface glia' SubClassOf 'Drosophila component' 'lateral cord surface glia' SubClassOf 'lateral cord glia' http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell 'kidney collecting duct principal cell' SubClassOf 'part of' some 'collecting duct of renal tubule' http://purl.obolibrary.org/obo/MONDO_0054813 ehlers-danlos syndrome, classic-like, 2 'ehlers-danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' 'ehlers-danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' 'ehlers-danlos syndrome, classic-like, 2' SubClassOf 'Primary bone dysplasia with decreased bone density' 'ehlers-danlos syndrome, classic-like, 2' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to defective mitochondrial and peroxisomal fission 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'brain disease' 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'Rare genetic neurological disorder' 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'Neurometabolic disease' 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' http://purl.obolibrary.org/obo/CL_0002188 glomerular endothelial cell 'glomerular endothelial cell' SubClassOf 'part of' some 'glomerular endothelium' http://purl.obolibrary.org/obo/HP_0200148 Abnormal liver function tests during pregnancy 'Abnormal liver function tests during pregnancy' SubClassOf 'Elevated hepatic transaminase' 'Abnormal liver function tests during pregnancy' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell 'renal beta-intercalated cell' SubClassOf 'part of' some 'collecting duct of renal tubule' http://www.ebi.ac.uk/efo/EFO_0004253 nephrolithiasis 'nephrolithiasis' SubClassOf 'urolithiasis' http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule 'renal connecting tubule' SubClassOf 'part of' some 'nephron' 'renal connecting tubule' SubClassOf 'part of' some 'cortex of kidney' http://purl.obolibrary.org/obo/FBbt_00005508 embryonic central brain mushroom body 'embryonic central brain mushroom body' SubClassOf 'part of' some 'embryonic central brain' 'embryonic central brain mushroom body' SubClassOf 'part of' some 'central brain primordium' http://purl.obolibrary.org/obo/FBbt_00005511 pars intercerebralis primordium 'pars intercerebralis primordium' SubClassOf 'part of' some 'central brain primordium' http://purl.obolibrary.org/obo/MONDO_0003036 mucoepidermoid carcinoma 'mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid tumor' 'mucoepidermoid carcinoma' SubClassOf 'cystic, mucinous, and serous neoplasm' http://purl.obolibrary.org/obo/FBbt_00005546 labral sensory complex primordium 'labral sensory complex primordium' SubClassOf 'Drosophila developmental tissue' 'labral sensory complex primordium' SubClassOf 'sensory nervous system primordium' http://purl.obolibrary.org/obo/FBbt_00005544 maxillary sensory complex primordium 'maxillary sensory complex primordium' SubClassOf 'Drosophila developmental tissue' 'maxillary sensory complex primordium' SubClassOf 'sensory nervous system primordium' http://purl.obolibrary.org/obo/FBbt_00005545 labial sensory complex primordium 'labial sensory complex primordium' SubClassOf 'Drosophila developmental tissue' 'labial sensory complex primordium' SubClassOf 'sensory nervous system primordium' http://purl.obolibrary.org/obo/MONDO_0015078 gastroenteropancreatic neuroendocrine neoplasm 'gastroenteropancreatic neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'gastroenteropancreatic neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/CL_0002370 respiratory goblet cell 'respiratory goblet cell' SubClassOf 'part of' some 'bronchus' http://purl.obolibrary.org/obo/HP_0008513 Bilateral conductive hearing impairment 'Bilateral conductive hearing impairment' SubClassOf 'Hearing abnormality' 'Bilateral conductive hearing impairment' SubClassOf 'Abnormal ear morphology' 'Bilateral conductive hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0000405 http://www.orpha.net/ORDO/Orphanet_231393 Beta-thalassemia - X-linked thrombocytopenia 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100089 http://purl.obolibrary.org/obo/CL_1001567 lung endothelial cell 'lung endothelial cell' SubClassOf 'part of' some 'respiratory system blood vessel' http://purl.obolibrary.org/obo/FBbt_00005442 hypopharynx anlage 'hypopharynx anlage' SubClassOf 'part of' some 'foregut anlage' http://www.orpha.net/ORDO/Orphanet_98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'congenital vitamin K-dependent coagulation factors combined deficiency' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/CL_0002062 type I pneumocyte 'type I pneumocyte' SubClassOf 'part of' some 'alveolus of lung' 'type I pneumocyte' SubClassOf 'lung structure' http://purl.obolibrary.org/obo/CL_0002063 type II pneumocyte 'type II pneumocyte' SubClassOf 'part of' some 'alveolus of lung' 'type II pneumocyte' SubClassOf 'lung structure' http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome 'hemolytic-uremic syndrome' SubClassOf 'blood coagulation disease' 'hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' http://purl.obolibrary.org/obo/MONDO_0013536 heme oxygenase 1 deficiency 'heme oxygenase 1 deficiency' SubClassOf 'genetic disorder' 'heme oxygenase 1 deficiency' SubClassOf 'Disorder of porphyrin and haem metabolism' http://purl.obolibrary.org/obo/UBERON_0003126 trachea 'trachea' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000065 http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla 'hepatopancreatic ampulla' SubClassOf 'bile duct' 'hepatopancreatic ampulla' SubClassOf 'part of' some 'common bile duct' 'hepatopancreatic ampulla' SubClassOf 'part of' some 'pancreas' 'hepatopancreatic ampulla' SubClassOf 'pancreactic component' http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta 'vasa recta' SubClassOf 'vein' 'vasa recta' SubClassOf 'part of' some 'kidney pyramid' http://purl.obolibrary.org/obo/UBERON_0002169 alveolar sac 'alveolar sac' SubClassOf 'part of' some 'respiratory tract' 'alveolar sac' SubClassOf 'lung epithelium' http://purl.obolibrary.org/obo/UBERON_0002183 lobar bronchus 'lobar bronchus' SubClassOf 'lung structure' 'lobar bronchus' SubClassOf 'bronchus' 'lobar bronchus' SubClassOf 'part of' some 'bronchus' 'lobar bronchus' SubClassOf 'part of' some 'lung' http://purl.obolibrary.org/obo/UBERON_0002184 segmental bronchus 'segmental bronchus' SubClassOf 'part of' some 'lung' 'segmental bronchus' SubClassOf 'bronchus' 'segmental bronchus' SubClassOf 'part of' some 'bronchus' 'segmental bronchus' SubClassOf 'lung structure' http://purl.obolibrary.org/obo/UBERON_0002188 respiratory bronchiole 'respiratory bronchiole' SubClassOf 'part of' some 'bronchiole' 'respiratory bronchiole' SubClassOf 'bronchiole' http://purl.obolibrary.org/obo/MONDO_0021272 inherited orthostatic hypotension 'inherited orthostatic hypotension' SubClassOf 'primary orthostatic hypotension' http://purl.obolibrary.org/obo/HP_0100759 Clubbing of fingers 'Clubbing of fingers' SubClassOf 'Abnormality of finger' http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract 'respiratory tract' SubClassOf 'part of' some 'anatomical system' 'respiratory tract' SubClassOf 'anatomical structure' 'respiratory tract' SubClassOf 'part of' some 'respiratory system' http://purl.obolibrary.org/obo/HP_0100699 Scarring 'Scarring' SubClassOf 'Abnormality of connective tissue' http://purl.obolibrary.org/obo/MONDO_0018720 common cystic lymphatic malformation 'common cystic lymphatic malformation' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/HP_0002566 Intestinal malrotation 'Intestinal malrotation' SubClassOf 'Abnormal intestine morphology' http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate 'cleft palate' SubClassOf 'rare head and neck malformation' 'cleft palate' SubClassOf 'rare maxillo-facial surgical disease' 'cleft palate' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/HP_0000264 Abnormality of the mastoid 'Abnormality of the mastoid' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/HP_0000405 Conductive hearing impairment 'Conductive hearing impairment' SubClassOf 'Abnormal ear morphology' 'Conductive hearing impairment' SubClassOf 'Hearing abnormality' http://purl.obolibrary.org/obo/MONDO_0033967 immune dysregulation with inflammatory bowel disease 'immune dysregulation with inflammatory bowel disease' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'immune dysregulation with inflammatory bowel disease' SubClassOf 'disease has feature' some 'inflammatory bowel disease' 'immune dysregulation with inflammatory bowel disease' EquivalentTo 'Immune dysregulation disease with immunodeficiency' and ('disease has feature' some 'inflammatory bowel disease') http://purl.obolibrary.org/obo/MONDO_0043237 glossodynia 'glossodynia' SubClassOf 'tongue disease' 'glossodynia' SubClassOf 'disorder involving pain' http://urigen_local_uri/33f82e6a-03d5-430b-91a4-f1356c8807eb/CL_0018004 elevated lactate dehydrogenase 'elevated lactate dehydrogenase' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/MONDO_0016996 NK-cell enteropathy 'NK-cell enteropathy' SubClassOf 'intestinal disease' 'NK-cell enteropathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100116 middle east respiratory syndrome 'middle east respiratory syndrome' SubClassOf 'coronavirus infectious disease' http://purl.obolibrary.org/obo/HP_0020174 Refractory drug response 'Refractory drug response' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum 'inherited pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/MONDO_0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'autosomal recessive disease' 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0100096 COVID-19 'COVID-19' SubClassOf 'coronavirus infectious disease' http://purl.obolibrary.org/obo/MONDO_0100089 GATA1-Related X-Linked Cytopenia 'GATA1-Related X-Linked Cytopenia' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/HP_0020139 History of recent insect bite 'History of recent insect bite' SubClassOf 'clinical history' http://purl.obolibrary.org/obo/HP_0010769 Pilonidal sinus 'Pilonidal sinus' SubClassOf 'Abnormality of the vertebral column' http://www.ebi.ac.uk/efo/EFO_0010653 intellectual developmental disorder with speech delay, autism and dysmorphic facies 'intellectual developmental disorder with speech delay, autism and dysmorphic facies' SubClassOf 'autosomal dominant disease' 'intellectual developmental disorder with speech delay, autism and dysmorphic facies' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010654 intellectual developmental disorder, autosomal recessive 72 'intellectual developmental disorder, autosomal recessive 72' SubClassOf 'syndromic disease' 'intellectual developmental disorder, autosomal recessive 72' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010651 intellectual developmental disorder with impaired language and dysmorphic facies 'intellectual developmental disorder with impaired language and dysmorphic facies' SubClassOf 'autosomal dominant disease' 'intellectual developmental disorder with impaired language and dysmorphic facies' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010652 intellectual developmental disorder with short stature and behavioral abnormalities 'intellectual developmental disorder with short stature and behavioral abnormalities' SubClassOf 'syndromic disease' 'intellectual developmental disorder with short stature and behavioral abnormalities' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 'neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies' SubClassOf 'syndromic disease' 'neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010657 neurodevelopmental disorder with absent language and variable seizures 'neurodevelopmental disorder with absent language and variable seizures' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010658 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 'neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia' SubClassOf 'autosomal recessive disease' 'neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital 'megabladder, congenital' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010656 mitochondrial complex V deficiency, nuclear type 6 'mitochondrial complex V deficiency, nuclear type 6' SubClassOf 'mitochondrial complex deficiency' http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder 'Neurodevelopmental disorder' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0010643 Snijders Blok-Campeau syndrome 'Snijders Blok-Campeau syndrome' SubClassOf 'autosomal dominant disease' 'Snijders Blok-Campeau syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010641 3-ureidopropionate measurement '3-ureidopropionate measurement' SubClassOf 'metabolite measurement' '3-ureidopropionate measurement' SubClassOf 'is_about' some 'N-carbamoyl-beta-alaninate' http://www.ebi.ac.uk/efo/EFO_0010649 immunophenotype 'immunophenotype' SubClassOf 'phenotype' http://www.ebi.ac.uk/efo/EFO_0010646 genetic non-acquired premature ovarian failure 'genetic non-acquired premature ovarian failure' SubClassOf 'genetic endocrine growth disease' 'genetic non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.ebi.ac.uk/efo/EFO_0010647 STAT3 gain of function 'STAT3 gain of function' SubClassOf 'genetic disorder' 'STAT3 gain of function' SubClassOf 'autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0010644 Developmental delay with variable intellectual impairment and behavioural abnormalities 'Developmental delay with variable intellectual impairment and behavioural abnormalities' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0010645 Cardiac-urogenital syndrome 'Cardiac-urogenital syndrome' SubClassOf 'syndromic disease' 'Cardiac-urogenital syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0010675 chronic venous hypertension 'chronic venous hypertension' SubClassOf 'vein disease' http://www.ebi.ac.uk/efo/EFO_0010676 cornea transplantation 'cornea transplantation' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010673 cardiac transplant 'cardiac transplant' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010674 cardioverter defibrillator 'cardioverter defibrillator' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010671 arterial embolism 'arterial embolism' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0010672 blood vessel replacement 'blood vessel replacement' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010670 abnormal chest sounds 'abnormal chest sounds' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0010679 eye swelling 'eye swelling' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0010677 cytological, histological or immunological finding 'cytological, histological or immunological finding' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0010678 eye discharge 'eye discharge' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0010664 pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 'pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, Telomere-related' 'pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010665 short stature and microcephaly with genital anomalies 'short stature and microcephaly with genital anomalies' SubClassOf 'syndromic disease' 'short stature and microcephaly with genital anomalies' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010662 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 'neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies' SubClassOf 'autosomal recessive disease' 'neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010663 neurooculocardiogenitourinary syndrome 'neurooculocardiogenitourinary syndrome' SubClassOf 'syndromic disease' 'neurooculocardiogenitourinary syndrome' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010660 neurodevelopmental disorder with macrocephaly and with or without seizures 'neurodevelopmental disorder with macrocephaly and with or without seizures' SubClassOf 'autosomal dominant disease' 'neurodevelopmental disorder with macrocephaly and with or without seizures' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010661 neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures 'neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures' SubClassOf 'syndromic disease' 'neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010668 lung capillary endothelial cell 'lung capillary endothelial cell' SubClassOf 'lung structure' 'lung capillary endothelial cell' SubClassOf 'part of' some 'pulmonary capillary' 'lung capillary endothelial cell' SubClassOf 'capillary endothelial cell' http://www.ebi.ac.uk/efo/EFO_0010669 lung pericyte cell 'lung pericyte cell' SubClassOf 'part of' some 'respiratory tract' 'lung pericyte cell' SubClassOf 'pericyte cell' http://www.ebi.ac.uk/efo/EFO_0010666 airway submucosal gland 'airway submucosal gland' SubClassOf 'gland' 'airway submucosal gland' SubClassOf 'part of' some 'bronchus' http://www.ebi.ac.uk/efo/EFO_0010667 endothelial cell of respiratory system lymphatic vessel 'endothelial cell of respiratory system lymphatic vessel' SubClassOf 'part of' some 'respiratory system lymphatic vessel' 'endothelial cell of respiratory system lymphatic vessel' SubClassOf 'endothelial cell' http://www.ebi.ac.uk/efo/EFO_0010693 tooth-supporting structures disease 'tooth-supporting structures disease' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_0010694 total parenteral nutrition 'total parenteral nutrition' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0010691 retroperitoneal infection 'retroperitoneal infection' SubClassOf 'disease of retroperitoneum' http://www.ebi.ac.uk/efo/EFO_0010692 subcutaneous tissue infection 'subcutaneous tissue infection' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0010690 renal dialysis 'renal dialysis' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010686 muscle strain 'muscle strain' SubClassOf 'injury' http://www.ebi.ac.uk/efo/EFO_0010687 neonatal erythema toxicum 'neonatal erythema toxicum' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0010684 malunion fracture 'malunion fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0010685 menopausal or post-menopausal disease 'menopausal or post-menopausal disease' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0010682 liver transplant 'liver transplant' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010683 localized superficial swelling, mass, or lump 'localized superficial swelling, mass, or lump' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0010680 hematoma 'hematoma' SubClassOf 'hemorrhage' http://www.ebi.ac.uk/efo/EFO_0010681 ileostomy 'ileostomy' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010688 periapical tissue disease 'periapical tissue disease' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_0010689 perineum disease 'perineum disease' SubClassOf 'abdominal and pelvic region disorder' http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule 'proximal tubule' SubClassOf 'part of' some 'nephron' 'proximal tubule' SubClassOf 'part of' some 'cortex of kidney' 'proximal tubule' SubClassOf 'nephron tubule' http://purl.obolibrary.org/obo/MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'Riboflavin transporter deficiency' http://purl.obolibrary.org/obo/MONDO_0012586 coronary artery disease, autosomal dominant 2 'coronary artery disease, autosomal dominant 2' SubClassOf 'genetic disorder' 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0014914 Dias-Logan syndrome 'Dias-Logan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0005230 Biliary tract obstruction 'Biliary tract obstruction' SubClassOf 'Abnormal biliary tract morphology' http://purl.obolibrary.org/obo/UBERON_0016405 pulmonary capillary 'pulmonary capillary' SubClassOf 'lung blood vessel' 'pulmonary capillary' EquivalentTo 'capillary' and ('part of' some 'lung') 'pulmonary capillary' SubClassOf 'capillary' 'pulmonary capillary' SubClassOf 'part of' some 'alveolar sac' http://purl.obolibrary.org/obo/HP_0030878 Abnormality on pulmonary function testing 'Abnormality on pulmonary function testing' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/MONDO_0020081 macrophage or histiocytic tumor 'macrophage or histiocytic tumor' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/UBERON_0003456 respiratory system lymphatic vessel 'respiratory system lymphatic vessel' SubClassOf 'part of' some 'respiratory system' 'respiratory system lymphatic vessel' EquivalentTo 'lymphatic vessel' and ('part of' some 'respiratory system') 'respiratory system lymphatic vessel' SubClassOf 'lymphatic vessel' 'respiratory system lymphatic vessel' SubClassOf 'part of' some 'respiratory tract' http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery 'respiratory system artery' SubClassOf 'respiratory system blood vessel' 'respiratory system artery' EquivalentTo 'artery' and ('part of' some 'respiratory system') 'respiratory system artery' SubClassOf 'part of' some 'respiratory system blood vessel' 'respiratory system artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0003476 respiratory system venous blood vessel 'respiratory system venous blood vessel' SubClassOf 'respiratory system blood vessel' 'respiratory system venous blood vessel' SubClassOf 'vein' 'respiratory system venous blood vessel' SubClassOf 'part of' some 'respiratory system blood vessel' http://purl.obolibrary.org/obo/MONDO_0010560 cleft palate with or without ankyloglossia, X-linked 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/HP_0003565 Elevated erythrocyte sedimentation rate 'Elevated erythrocyte sedimentation rate' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0000988 discharging ear 'discharging ear' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' SubClassOf 'thyroid hormone resistance syndrome' http://purl.obolibrary.org/obo/MONDO_0034204 syndromic congenital sodium diarrhea 'syndromic congenital sodium diarrhea' SubClassOf 'Genetic intractable diarrhea of infancy' 'syndromic congenital sodium diarrhea' SubClassOf 'Congenital sodium diarrhea' 'syndromic congenital sodium diarrhea' EquivalentTo 'Congenital sodium diarrhea' and ('has modifier' some 'has a syndromic presentation') 'syndromic congenital sodium diarrhea' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome 'infection-related hemolytic uremic syndrome' EquivalentTo 'hemolytic-uremic syndrome' and ('disease arises from feature' some 'infectious disease') 'infection-related hemolytic uremic syndrome' SubClassOf 'post-infectious disorder' 'infection-related hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/HP_0001386 Joint swelling 'Joint swelling' SubClassOf 'Abnormality of skeletal morphology' 'Joint swelling' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0025324 Arterial occlusion 'Arterial occlusion' SubClassOf 'Abnormality of the vasculature' 'Arterial occlusion' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/MONDO_0020937 contractures, pterygia, and variable skeletal fusions syndrome 'contractures, pterygia, and variable skeletal fusions syndrome' SubClassOf 'Multiple pterygium syndrome' http://purl.obolibrary.org/obo/MONDO_0020927 postaxial polydactyly 'postaxial polydactyly' SubClassOf 'Polydactyly' http://purl.obolibrary.org/obo/MONDO_0020811 mitochondrial complex III deficiency, nuclear type 'mitochondrial complex III deficiency, nuclear type' SubClassOf 'Isolated CoQ-cytochrome C reductase deficiency' http://purl.obolibrary.org/obo/HP_0410049 Abnormality of radial ray 'Abnormality of radial ray' SubClassOf 'Abnormality of skeletal morphology' 'Abnormality of radial ray' SubClassOf 'Abnormality of limbs' http://purl.obolibrary.org/obo/HP_0001495 Carpal osteolysis 'Carpal osteolysis' SubClassOf 'Abnormal upper limb bone morphology' 'Carpal osteolysis' SubClassOf 'Abnormality of upper limb joint' http://purl.obolibrary.org/obo/MONDO_0019479 histiocytic sarcoma 'histiocytic sarcoma' SubClassOf 'macrophage or histiocytic tumor' http://purl.obolibrary.org/obo/HP_0011227 Elevated C-reactive protein level 'Elevated C-reactive protein level' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0007336 isolated cleft palate 'isolated cleft palate' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated cleft palate' SubClassOf 'hereditary connective tissue disorder' 'isolated cleft palate' SubClassOf 'cleft palate' 'isolated cleft palate' EquivalentTo 'cleft palate' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0027749 serpinopathy 'serpinopathy' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0015474 cryptosporidiosis 'cryptosporidiosis' SubClassOf 'parasitic intestinal disease' 'cryptosporidiosis' SubClassOf 'coccidiosis' 'cryptosporidiosis' SubClassOf 'has modifier' some 'rare' 'cryptosporidiosis' SubClassOf 'disease has feature' some 'dysentery' http://purl.obolibrary.org/obo/HP_0200065 Chorioretinal degeneration 'Chorioretinal degeneration' SubClassOf 'Abnormal retinal morphology' 'Chorioretinal degeneration' SubClassOf 'Abnormal choroid morphology' http://purl.obolibrary.org/obo/MONDO_0003265 adjustment disorder 'adjustment disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb 'descending thin limb' SubClassOf 'part of' some 'loop of Henle' 'descending thin limb' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0008419 Intervertebral disc degeneration 'Intervertebral disc degeneration' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0100014 Epiretinal membrane 'Epiretinal membrane' SubClassOf 'Abnormal macular morphology' http://purl.obolibrary.org/obo/HP_0002153 Hyperkalemia 'Hyperkalemia' SubClassOf 'Abnormal blood ion concentration' http://purl.obolibrary.org/obo/HP_0002032 Esophageal atresia 'Esophageal atresia' SubClassOf 'Abnormal esophagus morphology' http://purl.obolibrary.org/obo/HP_0002910 Elevated hepatic transaminase 'Elevated hepatic transaminase' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/HP_0000651 Diplopia 'Diplopia' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/MONDO_0016569 rare lymphatic malformation 'rare lymphatic malformation' SubClassOf 'rare lymphatic system malformation' http://purl.obolibrary.org/obo/HP_0020083 Furuncle 'Furuncle' SubClassOf 'Inflammatory abnormality of the skin' http://purl.obolibrary.org/obo/MONDO_0000184 congenital vitamin K-dependent coagulation factors combined deficiency 'congenital vitamin K-dependent coagulation factors combined deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/HP_0007777 Chorioretinal scar 'Chorioretinal scar' SubClassOf 'Abnormal choroid morphology' 'Chorioretinal scar' SubClassOf 'Abnormality of connective tissue' 'Chorioretinal scar' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/MONDO_0000844 spondyloepimetaphyseal dysplasia 'spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/HP_0001693 Cardiac shunt 'Cardiac shunt' SubClassOf 'Abnormality of blood circulation' http://purl.obolibrary.org/obo/HP_0001974 Leukocytosis 'Leukocytosis' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy 'non-familial rare disease with dilated cardiomyopathy' SubClassOf 'non-familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015078 gastroenteropancreatic neuroendocrine neoplasm 'gastroenteropancreatic neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'gastroenteropancreatic neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm'