136 97 6 http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' http://www.orpha.net/ORDO/Orphanet_33067 Metaphyseal chondrodysplasia, Jansen type 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Pyle disease' http://www.orpha.net/ORDO/Orphanet_1187 Lethal ataxia with deafness and optic atrophy 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.orpha.net/ORDO/Orphanet_1188 Ataxia-deafness-intellectual disability syndrome 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'childhood leukemia' 'childhood acute myeloid leukemia' SubClassOf 'childhood leukemia' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000049 pulmonary tuberculosis 'pulmonary tuberculosis' SubClassOf 'rare pulmonary disease' 'pulmonary tuberculosis' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'coronavirus infectious disease' 'severe acute respiratory syndrome' SubClassOf 'rare pulmonary disease' 'severe acute respiratory syndrome' SubClassOf 'respiratory system disease' 'severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020753 'severe acute respiratory syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1429 Benign familial chorea 'Benign familial chorea' SubClassOf 'Huntington disease-like syndrome' http://purl.obolibrary.org/obo/UBERON_0000305 amnion 'amnion' SubClassOf 'part of' some 'placenta' http://purl.obolibrary.org/obo/MONDO_0021169 epithelioid hemangioma 'epithelioid hemangioma' SubClassOf 'hemangioma' 'epithelioid hemangioma' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'rare pulmonary disease' 'systemic scleroderma' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_3471 Young syndrome 'Young syndrome' SubClassOf 'rare pulmonary disease' 'Young syndrome' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'mixed dermis disorder' 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007145 http://www.orpha.net/ORDO/Orphanet_60 Alpha-1-antitrypsin deficiency 'Alpha-1-antitrypsin deficiency' SubClassOf 'rare pulmonary disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0004610 acute lung injury 'acute lung injury' SubClassOf 'rare pulmonary disease' http://purl.obolibrary.org/obo/UBERON_0000453 decidua basalis 'decidua basalis' SubClassOf 'part of' some 'placenta' 'decidua basalis' SubClassOf 'part of' some 'endometrium' http://www.ebi.ac.uk/efo/EFO_1000828 B- and T-cell mixed leukemia 'B- and T-cell mixed leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020743 'B- and T-cell mixed leukemia' SubClassOf 'primary bone lymphoma' http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'headache disorder' 'burning mouth syndrome' SubClassOf 'headache disorder' http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) 'renal agenesis (disease)' SubClassOf 'disease causes feature' some http://purl.obolibrary.org/obo/MONDO_0001558 http://www.ebi.ac.uk/efo/EFO_1000958 halo nevus 'halo nevus' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'rare pulmonary disease' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_1000450 Papillary Transitional Cell Carcinoma 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://www.orpha.net/ORDO/Orphanet_1848 Bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0001558 DisjointWith 'Bilateral renal agenesis' http://www.ebi.ac.uk/efo/EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'Genetic skin tumor' http://www.ebi.ac.uk/efo/EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'Mastocytosis' 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'hematologic disease' 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' http://www.orpha.net/ORDO/Orphanet_399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'disease has feature' some 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'disease has feature' some 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_163927 Pustulosis palmaris et plantaris 'Pustulosis palmaris et plantaris' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_0005223 acute stress reaction 'acute stress reaction' SubClassOf 'mental or behavioural disorder' 'acute stress reaction' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_163988 Developmental delay - deafness, Hildebrand type 'Developmental delay - deafness, Hildebrand type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.orpha.net/ORDO/Orphanet_163976 X-linked intellectual disability, Van Esch type 'X-linked intellectual disability, Van Esch type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Van Esch type' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007986 reticulocyte count 'reticulocyte count' SubClassOf 'is_about' some 'reticulocyte' 'reticulocyte count' SubClassOf 'hematological measurement' 'reticulocyte count' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010700 http://purl.obolibrary.org/obo/MONDO_0100116 middle east respiratory syndrome 'middle east respiratory syndrome' SubClassOf 'coronavirus infectious disease' 'middle east respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020753 http://purl.obolibrary.org/obo/CL_1000398 endothelial cell of hepatic sinusoid 'endothelial cell of hepatic sinusoid' SubClassOf 'part of' some 'hepatic sinusoid' http://purl.obolibrary.org/obo/MONDO_0100096 COVID-19 'COVID-19' SubClassOf 'coronavirus infectious disease' 'COVID-19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020753 http://www.ebi.ac.uk/efo/EFO_0003106 pneumonia 'pneumonia' SubClassOf 'lung disease' 'pneumonia' SubClassOf 'pneumonitis' 'pneumonia' SubClassOf 'lung disease' 'pneumonia' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_90308 Klippel-Trénaunay syndrome 'Klippel-Trénaunay syndrome' SubClassOf 'Angioosteohypertrophic syndrome' 'Klippel-Trénaunay syndrome' SubClassOf 'Angioosteohypertrophic syndrome' http://www.ebi.ac.uk/efo/EFO_0009680 pleural empyema 'pleural empyema' SubClassOf 'rare pulmonary disease' http://www.orpha.net/ORDO/Orphanet_3005 Pyle disease 'Pyle disease' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'disease has feature' some 'nephrosis' http://www.orpha.net/ORDO/Orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0007221 contagious pleuropneumonia 'contagious pleuropneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007216 congenital diaphragmatic hernia 'congenital diaphragmatic hernia' SubClassOf 'rare pulmonary disease' http://www.ebi.ac.uk/efo/EFO_0007257 eosinophilic pneumonia 'eosinophilic pneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007256 enzootic pneumonia of calves 'enzootic pneumonia of calves' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/CL_3000001 Hofbauer cell 'Hofbauer cell' SubClassOf 'part of' some 'placenta' http://purl.obolibrary.org/obo/UBERON_0004027 chorionic plate 'chorionic plate' SubClassOf 'part of' some 'placenta' http://www.ebi.ac.uk/efo/EFO_0007140 allergic bronchopulmonary aspergillosis 'allergic bronchopulmonary aspergillosis' SubClassOf 'rare pulmonary disease' http://www.orpha.net/ORDO/Orphanet_3167 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'rare pulmonary disease' 'Siegler-Brewer-Carey syndrome' SubClassOf 'has modifier' some 'rare' 'Siegler-Brewer-Carey syndrome' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_99951 Charcot-Marie-Tooth disease type 4E 'Charcot-Marie-Tooth disease type 4E' SubClassOf http://purl.obolibrary.org/obo/MONDO_0033352 http://www.ebi.ac.uk/efo/EFO_0007170 bird fancier's lung 'bird fancier's lung' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007184 bronchopneumonia 'bronchopneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007183 bronchiolitis obliterans 'bronchiolitis obliterans' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_85328 X-linked intellectual disability, Turner type 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85321 Deafness - intellectual disability, Martin-Probst type 'Deafness - intellectual disability, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007461 recurrent pneumonia 'recurrent pneumonia' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule 'liver lobule' SubClassOf 'part of' some 'liver' http://www.ebi.ac.uk/efo/EFO_0007484 sick building syndrome 'sick building syndrome' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007473 Ritter's disease 'Ritter's disease' SubClassOf 'syndromic disease' 'Ritter's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017592 http://purl.obolibrary.org/obo/UBERON_0002066 umbilical vein 'umbilical vein' SubClassOf 'part of' some 'placenta' http://purl.obolibrary.org/obo/MONDO_0000265 aspiration pneumonia (disease) 'aspiration pneumonia (disease)' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007385 mushroom workers' lung 'mushroom workers' lung' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000138 metaphyseal chondrodysplasia (disease) 'metaphyseal chondrodysplasia (disease)' SubClassOf 'metaphyseal dysplasia' 'metaphyseal chondrodysplasia (disease)' SubClassOf 'Pyle disease' http://www.orpha.net/ORDO/Orphanet_100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery 'hepatic artery' SubClassOf 'part of' some 'liver' 'hepatic artery' SubClassOf 'part of' some 'liver lobule' http://www.orpha.net/ORDO/Orphanet_2598 Mitochondrial myopathy and sideroblastic anemia 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'myopathy, lactic acidosis, and sideroblastic anemia' http://www.ebi.ac.uk/efo/EFO_1001321 extrinsic allergic alveolitis 'extrinsic allergic alveolitis' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_1001300 Cryptogenic Organizing Pneumonia 'Cryptogenic Organizing Pneumonia' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/HP_0003287 Abnormality of mitochondrial metabolism 'Abnormality of mitochondrial metabolism' SubClassOf 'Abnormal cellular physiology' 'Abnormality of mitochondrial metabolism' SubClassOf http://purl.obolibrary.org/obo/HP_0012103 http://www.ebi.ac.uk/efo/EFO_1001272 bacterial pneumonia 'bacterial pneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_1001290 chorea gravidarum 'chorea gravidarum' EquivalentTo 'choreatic disease' and 'pregnancy disorder' 'chorea gravidarum' SubClassOf 'choreatic disease' 'chorea gravidarum' EquivalentTo 'chorea' and 'pregnancy disorder' 'chorea gravidarum' SubClassOf 'chorea' http://www.ebi.ac.uk/efo/EFO_1001411 Radiation Pneumonitis 'Radiation Pneumonitis' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_1001424 skin epithelioid hemangioma 'skin epithelioid hemangioma' SubClassOf 'histiocytoid hemangioma' 'skin epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' 'skin epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' http://www.orpha.net/ORDO/Orphanet_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.ebi.ac.uk/efo/EFO_1001037 meconium aspiration syndrome 'meconium aspiration syndrome' SubClassOf 'rare pulmonary disease' http://purl.obolibrary.org/obo/UBERON_0001310 umbilical artery 'umbilical artery' SubClassOf 'part of' some 'placenta' http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0000841 metaphyseal dysplasia 'metaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0000863 myopathy, lactic acidosis, and sideroblastic anemia 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0000870 childhood acute lymphoblastic leukemia 'childhood acute lymphoblastic leukemia' EquivalentTo 'childhood leukemia' and 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/UBERON_0001295 endometrium 'endometrium' SubClassOf 'part of' some 'uterus' http://purl.obolibrary.org/obo/UBERON_0001296 myometrium 'myometrium' SubClassOf 'part of' some 'uterus' http://purl.obolibrary.org/obo/MONDO_0022113 central centrifugal cicatricial alopecia 'central centrifugal cicatricial alopecia' SubClassOf 'Alopecia' 'central centrifugal cicatricial alopecia' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/CL_1000488 cholangiocyte 'cholangiocyte' SubClassOf 'part of' some 'intralobular bile duct' http://www.orpha.net/ORDO/Orphanet_244 Primary ciliary dyskinesia 'Primary ciliary dyskinesia' SubClassOf 'rare pulmonary disease' 'Primary ciliary dyskinesia' SubClassOf 'Male infertility due to sperm motility disorder' 'Primary ciliary dyskinesia' SubClassOf 'has modifier' some 'rare' 'Primary ciliary dyskinesia' SubClassOf 'Male infertility due to sperm motility disorder' 'Primary ciliary dyskinesia' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_254 Spondylometaphyseal dysplasia 'Spondylometaphyseal dysplasia' SubClassOf 'metaphyseal dysplasia' 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylometaphyseal dysplasia' SubClassOf 'Pyle disease' http://www.orpha.net/ORDO/Orphanet_649 Norrie disease 'Norrie disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.orpha.net/ORDO/Orphanet_669 Otopalatodigital syndrome 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.orpha.net/ORDO/Orphanet_682 Hyperkalemic periodic paralysis 'Hyperkalemic periodic paralysis' SubClassOf 'Hypokalemic periodic paralysis' 'Hypokalemic periodic paralysis' DisjointWith 'Hyperkalemic periodic paralysis' 'Hyperkalemic periodic paralysis' SubClassOf 'Genetic muscular channelopathy' 'Hyperkalemic periodic paralysis' SubClassOf 'Genetic periodic paralysis' 'Hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' 'Hyperkalemic periodic paralysis' SubClassOf 'periodic paralysis (disease)' http://www.orpha.net/ORDO/Orphanet_681 Hypokalemic periodic paralysis 'Hypokalemic periodic paralysis' SubClassOf 'Potassium-aggravated myotonia' 'Hypokalemic periodic paralysis' DisjointWith 'Hyperkalemic periodic paralysis' 'Hypokalemic periodic paralysis' SubClassOf 'Genetic muscular channelopathy' 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003019 http://www.orpha.net/ORDO/Orphanet_398073 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0029146 Saul-Wilson syndrome 'Saul-Wilson syndrome' SubClassOf 'genetic disorder' 'Saul-Wilson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_569 Familial or sporadic hemiplegic migraine 'Familial or sporadic hemiplegic migraine' SubClassOf 'Benign partial infantile seizures' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Benign partial infantile seizures' 'Familial or sporadic hemiplegic migraine' SubClassOf 'disease of central nervous system or retinal vasculature' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial or sporadic hemiplegic migraine' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_566 Congenital microcoria 'Congenital microcoria' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_1001991 pneumonitis 'pneumonitis' SubClassOf 'respiratory tract infectious disease' 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 'Sulfation-related bone disorder' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Sulfation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Genetic non-syndromic obesity' 'WAGR syndrome' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2903 Familial spontaneous pneumothorax 'Familial spontaneous pneumothorax' SubClassOf 'rare pulmonary disease' 'Familial spontaneous pneumothorax' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_739 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0019586 X-linked nonsyndromic deafness 'X-linked nonsyndromic deafness' SubClassOf 'X-linked disease' 'X-linked nonsyndromic deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://www.orpha.net/ORDO/Orphanet_782 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'Non-syndromic developmental defect of the eye' 'Axenfeld-Rieger syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' http://www.orpha.net/ORDO/Orphanet_168569 H syndrome 'H syndrome' SubClassOf 'laryngeal disease' 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006412 http://www.orpha.net/ORDO/Orphanet_168593 Sudden infant death - dysgenesis of the testes 'Sudden infant death - dysgenesis of the testes' SubClassOf 'rare pulmonary disease' 'Sudden infant death - dysgenesis of the testes' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/CL_0000632 hepatic stellate cell 'hepatic stellate cell' SubClassOf 'part of' some 'liver lobule' http://www.ebi.ac.uk/efo/EFO_1001865 ventilator-associated pneumonia 'ventilator-associated pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_972 Hereditary continuous muscle fiber activity 'Hereditary continuous muscle fiber activity' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://purl.obolibrary.org/obo/MONDO_0003751 childhood germ cell tumor 'childhood germ cell tumor' EquivalentTo 'childhood neoplasm' and 'germ cell tumor' http://purl.obolibrary.org/obo/CL_0002601 uterine smooth muscle cell 'uterine smooth muscle cell' SubClassOf 'part of' some 'uterus' http://purl.obolibrary.org/obo/CL_0000091 Kupffer cell 'Kupffer cell' SubClassOf 'part of' some 'liver lobule' http://purl.obolibrary.org/obo/CL_0000182 hepatocyte 'hepatocyte' SubClassOf 'part of' some 'liver lobule' http://purl.obolibrary.org/obo/UBERON_0007106 chorionic villus 'chorionic villus' SubClassOf 'part of' some 'chorionic plate' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'choreatic disease' 'chorea' SubClassOf 'Huntington disease-like syndrome' http://www.orpha.net/ORDO/Orphanet_91491 Congenital ectropion uveae 'Congenital ectropion uveae' SubClassOf 'Non-syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0003119 histiocytoid hemangioma 'histiocytoid hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0015118 rare pulmonary disease 'rare pulmonary disease' SubClassOf 'respiratory system disease' 'rare pulmonary disease' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease 'interstitial lung disease' SubClassOf 'rare pulmonary disease' http://purl.obolibrary.org/obo/MONDO_0003097 childhood mediastinal neurogenic neoplasm 'childhood mediastinal neurogenic neoplasm' SubClassOf 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' EquivalentTo 'mediastinal neural neoplasm' and 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' SubClassOf 'mediastinal neural neoplasm' http://www.orpha.net/ORDO/Orphanet_98557 Syndromic aniridia 'Syndromic aniridia' SubClassOf 'Isolated aniridia' http://www.ebi.ac.uk/efo/EFO_0008556 Methicillin-Resistant Staphylococcus Aureus Pneumonia 'Methicillin-Resistant Staphylococcus Aureus Pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_250923 Isolated aniridia 'Isolated aniridia' SubClassOf 'Major induction processes eye anomaly' 'Isolated aniridia' SubClassOf 'iris disease' 'Isolated aniridia' SubClassOf 'Iridogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_98634 Iridogoniodysgenesis 'Iridogoniodysgenesis' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020771 http://www.orpha.net/ORDO/Orphanet_64747 X-linked Charcot-Marie-Tooth disease 'X-linked Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://purl.obolibrary.org/obo/MONDO_0001595 choreatic disease 'choreatic disease' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_247525 Citrullinemia type I 'Citrullinemia type I' SubClassOf 'Citrullinemia' 'Citrullinemia type I' SubClassOf 'Citrullinemia' http://www.orpha.net/ORDO/Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'rare pulmonary disease' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_88621 Ichthyosis prematurity syndrome 'Ichthyosis prematurity syndrome' SubClassOf 'pneumonia' http://www.orpha.net/ORDO/Orphanet_88917 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'X-linked disease' 'X-linked Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020768 http://purl.obolibrary.org/obo/UBERON_0002451 endometrial gland 'endometrial gland' SubClassOf 'part of' some 'reproductive system' 'endometrial gland' SubClassOf 'gland' 'endometrial gland' EquivalentTo 'gland' and ('part of' some 'endometrium') 'endometrial gland' SubClassOf 'part of' some 'trunk' 'endometrial gland' SubClassOf 'part of' some 'anatomical system' 'endometrial gland' SubClassOf 'part of' some 'endometrium' 'endometrial gland' SubClassOf 'part of' some 'pelvic region of trunk' http://purl.obolibrary.org/obo/MONDO_0033352 neuropathy, congenital hypomelinating 'neuropathy, congenital hypomelinating' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/UBERON_0000319 cytotrophoblast 'cytotrophoblast' SubClassOf 'part of' some 'chorionic villus' 'cytotrophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000371 syncytiotrophoblast 'syncytiotrophoblast' SubClassOf 'part of' some 'chorionic villus' 'syncytiotrophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0006412 sinus histiocytosis with massive lymphadenopathy 'sinus histiocytosis with massive lymphadenopathy' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/HP_0012103 Abnormality of the mitochondrion 'Abnormality of the mitochondrion' SubClassOf 'Abnormal cellular physiology' http://purl.obolibrary.org/obo/UBERON_0000426 extravillous trophoblast 'extravillous trophoblast' SubClassOf 'part of' some 'placenta' 'extravillous trophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'global cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0008630 urinary bladder, atony of 'urinary bladder, atony of' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0010650 creativity measurement 'creativity measurement' SubClassOf 'personality trait measurement' http://www.ebi.ac.uk/efo/EFO_0010648 response to vitamin B3 'response to vitamin B3' SubClassOf 'response to vitamin' http://www.ebi.ac.uk/efo/EFO_0010698 retinal break 'retinal break' SubClassOf 'has_disease_location' some ('eye' or ('part of' some 'eye')) 'retinal break' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_0010696 soluble gp130 measurement 'soluble gp130 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010699 diffuse plaque measurement 'diffuse plaque measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 'diffuse plaque measurement' SubClassOf 'is_about' some 'Alzheimer's disease' 'diffuse plaque measurement' SubClassOf 'is_about' some 'Alzheimer's disease neuropathologic change' 'diffuse plaque measurement' SubClassOf 'brain measurement' 'diffuse plaque measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0010716 coinfection 'coinfection' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0010717 afebrile 'afebrile' SubClassOf 'phenotype' http://www.ebi.ac.uk/efo/EFO_0010714 10X TCR enrichment '10X TCR enrichment' SubClassOf '10X Immune profiling' http://www.ebi.ac.uk/efo/EFO_0010715 10X Ig enrichment '10X Ig enrichment' SubClassOf '10X Immune profiling' http://www.ebi.ac.uk/efo/EFO_0010712 fused extravillous trophoblast 'fused extravillous trophoblast' SubClassOf 'extravillous trophoblast' http://www.ebi.ac.uk/efo/EFO_0010713 10X Immune profiling '10X Immune profiling' SubClassOf '10X 5' v2 sequencing' http://www.ebi.ac.uk/efo/EFO_0010710 endometrial glandular epithelial cell 'endometrial glandular epithelial cell' SubClassOf 'epithelial cell' 'endometrial glandular epithelial cell' SubClassOf 'part of' some 'endometrial gland' http://www.ebi.ac.uk/efo/EFO_0010711 uterine endothelial cell 'uterine endothelial cell' SubClassOf 'endothelial cell' 'uterine endothelial cell' SubClassOf 'part of' some 'uterus' http://www.ebi.ac.uk/efo/EFO_0010709 placental smooth muscle cell 'placental smooth muscle cell' SubClassOf 'part of' some 'placenta' 'placental smooth muscle cell' SubClassOf 'smooth muscle cell' http://www.ebi.ac.uk/efo/EFO_0010707 trans-3-hydroxycotinine measurement 'trans-3-hydroxycotinine measurement' SubClassOf 'measurement' 'trans-3-hydroxycotinine measurement' SubClassOf 'is_about' some 'trans-3-hydroxycotinine' http://www.ebi.ac.uk/efo/EFO_0010708 placental endothelial cell 'placental endothelial cell' SubClassOf 'part of' some 'placenta' 'placental endothelial cell' SubClassOf 'endothelial cell' http://www.ebi.ac.uk/efo/EFO_0010705 periportal hepatic sinusoidal endothelial cell 'periportal hepatic sinusoidal endothelial cell' SubClassOf 'endothelial cell of hepatic sinusoid' 'periportal hepatic sinusoidal endothelial cell' SubClassOf 'cell part' 'periportal hepatic sinusoidal endothelial cell' SubClassOf 'part of' some 'endothelial cell of hepatic sinusoid' http://www.ebi.ac.uk/efo/EFO_0010706 central venous hepatic sinusoidal endothelial cell 'central venous hepatic sinusoidal endothelial cell' SubClassOf 'endothelial cell of hepatic sinusoid' 'central venous hepatic sinusoidal endothelial cell' SubClassOf 'cell part' 'central venous hepatic sinusoidal endothelial cell' SubClassOf 'part of' some 'endothelial cell of hepatic sinusoid' http://www.ebi.ac.uk/efo/EFO_0010703 trauma exposure measurement 'trauma exposure measurement' SubClassOf 'mental or behavioural disorder biomarker' http://www.ebi.ac.uk/efo/EFO_0010704 portal endothelial cell 'portal endothelial cell' SubClassOf 'part of' some 'hepatic portal vein' 'portal endothelial cell' SubClassOf 'endothelial cell' http://www.ebi.ac.uk/efo/EFO_0010701 mean reticulocyte volume 'mean reticulocyte volume' SubClassOf 'reticulocyte measurement' http://www.ebi.ac.uk/efo/EFO_0010702 opioid use disorder 'opioid use disorder' SubClassOf 'substance-related disorder' http://www.ebi.ac.uk/efo/EFO_0010700 reticulocyte measurement 'reticulocyte measurement' SubClassOf 'hematological measurement' 'reticulocyte measurement' SubClassOf 'is_about' some 'reticulocyte' http://purl.obolibrary.org/obo/MONDO_0026733 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type 'intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver 'right lobe of liver' SubClassOf 'anatomical structure' 'right lobe of liver' SubClassOf 'part of' some 'liver' http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver 'left lobe of liver' SubClassOf 'anatomical structure' 'left lobe of liver' SubClassOf 'part of' some 'liver' http://purl.obolibrary.org/obo/UBERON_0001143 hepatic vein 'hepatic vein' SubClassOf 'vein' 'hepatic vein' SubClassOf 'part of' some 'trunk' 'hepatic vein' DisjointWith 'hepatic portal vein' 'hepatic vein' SubClassOf 'part of' some 'abdomen' 'hepatic vein' SubClassOf 'part of' some 'liver' http://purl.obolibrary.org/obo/MONDO_0009776 spermatogenic failure 1 'spermatogenic failure 1' SubClassOf 'azoospermia' 'spermatogenic failure 1' SubClassOf 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0007145 aplasia cutis congenita (disease) 'aplasia cutis congenita (disease)' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0009440 ichthyosiform erythroderma, corneal involvement, and deafness 'ichthyosiform erythroderma, corneal involvement, and deafness' SubClassOf 'KID syndrome' http://purl.obolibrary.org/obo/UBERON_0001639 hepatic portal vein 'hepatic portal vein' SubClassOf 'part of' some 'liver' 'hepatic portal vein' SubClassOf 'vein' 'hepatic vein' DisjointWith 'hepatic portal vein' 'hepatic portal vein' SubClassOf 'part of' some 'liver lobule' http://purl.obolibrary.org/obo/MONDO_0032914 ciliary dyskinesia, primary, 44 'ciliary dyskinesia, primary, 44' SubClassOf 'Primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0032915 long qt syndrome 16 'long qt syndrome 16' SubClassOf 'Familial long QT syndrome' 'long qt syndrome 16' SubClassOf 'Catecholaminergic polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0032912 coffin-siris syndrome 11 'coffin-siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0032913 congenital heart defects, multiple types, 7 'congenital heart defects, multiple types, 7' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032910 mitochondrial complex 1 deficiency, nuclear type 34 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'Isolated NADH-CoQ reductase deficiency' http://purl.obolibrary.org/obo/MONDO_0032911 deafness, autosomal dominant 75 'deafness, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic deafness' http://purl.obolibrary.org/obo/MONDO_0032918 epileptic encephalopathy, early infantile, 84 'epileptic encephalopathy, early infantile, 84' SubClassOf 'Early infantile epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032919 intellectual developmental disorder 62 'intellectual developmental disorder 62' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0032916 imagawa-matsumoto syndrome 'imagawa-matsumoto syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032917 deafness, autosomal dominant 76 'deafness, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic deafness' 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 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032904 corneal dystrophy, meesmann, 2 'corneal dystrophy, meesmann, 2' SubClassOf 'genetic disorder' 'corneal dystrophy, meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0032901 catifa syndrome 'catifa syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032902 joubert syndrome 36 'joubert syndrome 36' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032909 mitochondrial complex 3 deficiency, nuclear type 10 'mitochondrial complex 3 deficiency, nuclear type 10' SubClassOf 'mitochondrial complex III deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0032907 lymphatic malformation 8 'lymphatic malformation 8' SubClassOf 'Milroy disease' http://purl.obolibrary.org/obo/MONDO_0032908 cebalid syndrome 'cebalid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032905 spastic paraplegia 81, autosomal recessive 'spastic paraplegia 81, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0032906 spastic paraplegia 82, autosomal recessive 'spastic paraplegia 82, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive 'basal ganglia calcification, idiopathic, 8, autosomal recessive' SubClassOf 'Bilateral striopallidodentate calcinosis' http://purl.obolibrary.org/obo/MONDO_0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly 'intellectual developmental disorder, autosomal dominant 63, with macrocephaly' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0032924 ciliary dyskinesia, primary, 45 'ciliary dyskinesia, primary, 45' SubClassOf 'Primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032922 beck-fahrner syndrome 'beck-fahrner syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032920 juvenile arthritis due to defect in LACC1 'juvenile arthritis due to defect in LACC1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032941 myopia 27 'myopia 27' SubClassOf 'myopia (disease)' 'myopia 27' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 'retinitis pigmentosa 88' SubClassOf 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0032899 neutropenia, severe congenital, 8, autosomal dominant 'neutropenia, severe congenital, 8, autosomal dominant' SubClassOf 'Severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities 'intellectual developmental disorder with hypotonia and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032898 spermatogenic failure 43 'spermatogenic failure 43' SubClassOf 'Genetic infertility' 'spermatogenic failure 43' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032895 epileptic encephalopathy, early infantile, 83 'epileptic encephalopathy, early infantile, 83' SubClassOf 'Early infantile epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032896 spermatogenic failure 42 'spermatogenic failure 42' SubClassOf 'Genetic infertility' 'spermatogenic failure 42' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 'pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032891 aneurysm, intracranial berry, 12 'aneurysm, intracranial berry, 12' SubClassOf 'Familial cerebral saccular aneurysm' http://purl.obolibrary.org/obo/MONDO_0032892 structural brain anomalies with impaired intellectual development and craniosynostosis 'structural brain anomalies with impaired intellectual development and craniosynostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures 'neuromuscular disease and ocular or auditory anomalies with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032889 poirier-bienvenu neurodevelopmental syndrome 'poirier-bienvenu neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032886 liang-wang syndrome 'liang-wang syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 'ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032885 spondyloepimetaphyseal dysplasia, isidor-toutain type 'spondyloepimetaphyseal dysplasia, isidor-toutain type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032882 heyn-sproul-jackson syndrome 'heyn-sproul-jackson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020753 Orthocoronavirinae infectious disease 'Orthocoronavirinae infectious disease' SubClassOf 'Coronaviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0020743 mixed phenotype acute leukemia 'mixed phenotype acute leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'mixed phenotype acute leukemia' SubClassOf 'acute myeloid leukemia' 'mixed phenotype acute leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'mixed phenotype acute leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'Autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0017114 global cerebellar malformation 'global cerebellar malformation' SubClassOf 'Genetic cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness 'X-linked deafness' SubClassOf 'hearing loss' 'X-linked deafness' SubClassOf 'X-linked disease' 'X-linked deafness' SubClassOf 'inherited auditory system disease' http://purl.obolibrary.org/obo/MONDO_0032485 intellectual developmental disorder 61 'intellectual developmental disorder 61' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0003019 potassium deficiency disease 'potassium deficiency disease' SubClassOf 'mineral metabolism disease' 'potassium deficiency disease' SubClassOf 'nutritional disorder' http://purl.obolibrary.org/obo/MONDO_0017592 staphylococcal toxemia 'staphylococcal toxemia' SubClassOf 'staphylococcal skin infections' 'staphylococcal toxemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011074 autosomal dominant nonsyndromic deafness 7 'autosomal dominant nonsyndromic deafness 7' SubClassOf 'autosomal dominant nonsyndromic deafness' http://purl.obolibrary.org/obo/CL_2000002 decidual cell 'decidual cell' SubClassOf 'stromal cell' 'decidual cell' SubClassOf 'part of' some 'decidua basalis' 'decidual cell' SubClassOf 'extraembryonic cell' http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence 'Potter sequence' SubClassOf 'oligohydramnios' 'Potter sequence' DisjointWith 'Bilateral renal agenesis' 'Potter sequence' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000841 metaphyseal dysplasia 'metaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0000863 myopathy, lactic acidosis, and sideroblastic anemia 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0003119 histiocytoid hemangioma 'histiocytoid hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0015118 rare pulmonary disease 'rare pulmonary disease' SubClassOf 'respiratory system disease' 'rare pulmonary disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003097 childhood mediastinal neurogenic neoplasm 'childhood mediastinal neurogenic neoplasm' SubClassOf 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' EquivalentTo 'mediastinal neural neoplasm' and 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' SubClassOf 'mediastinal neural neoplasm' http://purl.obolibrary.org/obo/MONDO_0001595 choreatic disease 'choreatic disease' SubClassOf 'movement disorder'