Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
expand
Abnormality of dental morphology (HP:0006482)help
..Starting node
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Abnormal dental root morphology (HP:0006486)help
Term ID: 6486
Name: Abnormal dental root morphology
Synonym: Abnormality of the dental root; Abnormality of tooth root; Dental root anomaly
Definition: An abnormality of the dental root.
Comments:
Reference: HP:0006486
Genes and Diseases:
 
       Child Nodes:
........expandTaurodontia (HP:0000679) help
........expandRootless teeth (HP:0011072) help
........expandAbnormal size the dental root (HP:0040220) help
................... HP:0006336 Short dental roots
................... HP:0040221 Hypoplasia of the dental root

 Sister Nodes: 
..expandAbnormal incisor morphology (HP:0011063) help
..expandAbnormal molar morphology (HP:0011070) help
..expandAbnormal premolar morphology (HP:0011080) help
..expandConical tooth (HP:0000698) help
..expandDouble tooth (HP:0011089) help
..expandMacrodontia (HP:0001572) help
..expandMicrodontia (HP:0000691) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006486HP:0006486Abnormal dental root morphology0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0006486HP:0006486Abnormal dental root morphology0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0006486HP:0006486Abnormal dental root morphology0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0006486HP:0006486Abnormal dental root morphology0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0006486HP:0006486Abnormal dental root morphology0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0006486HP:0006486Abnormal dental root morphology0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0006486HP:0006486Abnormal dental root morphology0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0006486HP:0006486Abnormal dental root morphology0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0006486HP:0006486Abnormal dental root morphology0DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0006486HP:0006486Abnormal dental root morphology0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:0006486HP:0006486Abnormal dental root morphology0DLX3 CL E G H17472916OMIM:190320Trichodentoosseous syndrome48
HP:0006486HP:0006486Abnormal dental root morphology0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0006486HP:0006486Abnormal dental root morphology0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0006486HP:0006486Abnormal dental root morphology0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0006486HP:0006486Abnormal dental root morphology0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0006486HP:0006486Abnormal dental root morphology0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0006486HP:0006486Abnormal dental root morphology0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0006486HP:0006486Abnormal dental root morphology0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 146
HP:0006486HP:0006486Abnormal dental root morphology0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0006486HP:0006486Abnormal dental root morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0006486HP:0006486Abnormal dental root morphology0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0006486HP:0006486Abnormal dental root morphology0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0006486HP:0006486Abnormal dental root morphology0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0006486HP:0006486Abnormal dental root morphology0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0006486HP:0006486Abnormal dental root morphology0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0006486HP:0006486Abnormal dental root morphology0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0006486HP:0006486Abnormal dental root morphology0LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA167
HP:0006486HP:0006486Abnormal dental root morphology0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0006486HP:0006486Abnormal dental root morphology0LRP6 CL E G H40406698OMIM:616724Tooth agenesis, selective, 726
HP:0006486HP:0006486Abnormal dental root morphology0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0006486HP:0006486Abnormal dental root morphology0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0006486HP:0006486Abnormal dental root morphology0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0006486HP:0006486Abnormal dental root morphology0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0006486HP:0006486Abnormal dental root morphology0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0006486HP:0006486Abnormal dental root morphology0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0006486HP:0006486Abnormal dental root morphology0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0006486HP:0006486Abnormal dental root morphology0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0006486HP:0006486Abnormal dental root morphology0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome169
HP:0006486HP:0006486Abnormal dental root morphology0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome98
HP:0006486HP:0006486Abnormal dental root morphology0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0006486HP:0006486Abnormal dental root morphology0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0006486HP:0006486Abnormal dental root morphology0SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0006486HP:0006486Abnormal dental root morphology0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0006486HP:0006486Abnormal dental root morphology0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0006486HP:0006486Abnormal dental root morphology0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0006486HP:0006486Abnormal dental root morphology0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0006486HP:0006486Abnormal dental root morphology0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0006486HP:0006486Abnormal dental root morphology0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0006486HP:0006486Abnormal dental root morphology0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0006486HP:0006486Abnormal dental root morphology0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0006486HP:0006486Abnormal dental root morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0006486HP:0006486Abnormal dental root morphology0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0006486HP:0006486Abnormal dental root morphology0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0006486HP:0006486Abnormal dental root morphology0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0006486HP:0006486Abnormal dental root morphology0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0006486HP:0006486Abnormal dental root morphology0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0006486HP:0006486Abnormal dental root morphology0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0006486HP:0006486Abnormal dental root morphology0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0006486HP:0006486Abnormal dental root morphology0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0006486HP:0040220Abnormal size of the dental root1AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0006486HP:0000679Taurodontia1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0006486HP:0040220Abnormal size of the dental root1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0006486HP:0000679Taurodontia1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0006486HP:0000679Taurodontia1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0006486HP:0011072Rootless teeth1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0006486HP:0000679Taurodontia1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0006486HP:0000679Taurodontia1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0006486HP:0000679Taurodontia1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0006486HP:0000679Taurodontia1DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0006486HP:0000679Taurodontia1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:0006486HP:0000679Taurodontia1DLX3 CL E G H17472916OMIM:190320Trichodentoosseous syndrome.48
HP:0006486HP:0000679Taurodontia1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0006486HP:0000679Taurodontia1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0006486HP:0040220Abnormal size of the dental root1EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0006486HP:0000679Taurodontia1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0006486HP:0040220Abnormal size of the dental root1EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0006486HP:0000679Taurodontia1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0006486HP:0040220Abnormal size of the dental root1FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0006486HP:0000679Taurodontia1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0006486HP:0000679Taurodontia1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0006486HP:0000679Taurodontia1GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0006486HP:0000679Taurodontia1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0006486HP:0000679Taurodontia1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0006486HP:0040220Abnormal size of the dental root1IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0006486HP:0000679Taurodontia1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0006486HP:0000679Taurodontia1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0006486HP:0000679Taurodontia1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0006486HP:0000679Taurodontia1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0006486HP:0040220Abnormal size of the dental root1IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0006486HP:0000679Taurodontia1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0006486HP:0000679Taurodontia1LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IAHP:0040283 - Occasional167
HP:0006486HP:0040220Abnormal size of the dental root1LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0006486HP:0000679Taurodontia1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0006486HP:0000679Taurodontia1LRP6 CL E G H40406698OMIM:616724Tooth agenesis, selective, 7HP:0040283 - Occasional26
HP:0006486HP:0040220Abnormal size of the dental root1MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0006486HP:0000679Taurodontia1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0006486HP:0000679Taurodontia1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0006486HP:0000679Taurodontia1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0006486HP:0000679Taurodontia1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0006486HP:0000679Taurodontia1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0006486HP:0000679Taurodontia1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0006486HP:0000679Taurodontia1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0006486HP:0040220Abnormal size of the dental root1PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0006486HP:0000679Taurodontia1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0006486HP:0000679Taurodontia1PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0006486HP:0000679Taurodontia1PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0006486HP:0000679Taurodontia1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0006486HP:0000679Taurodontia1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0006486HP:0000679Taurodontia1SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teethHP:0040283 - Occasional4
HP:0006486HP:0040220Abnormal size of the dental root1SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0006486HP:0040220Abnormal size of the dental root1SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0006486HP:0000679Taurodontia1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0006486HP:0000679Taurodontia1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0006486HP:0000679Taurodontia1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0006486HP:0000679Taurodontia1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0006486HP:0040220Abnormal size of the dental root1TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0006486HP:0000679Taurodontia1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0006486HP:0040220Abnormal size of the dental root1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0006486HP:0040220Abnormal size of the dental root1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0006486HP:0000679Taurodontia1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0006486HP:0000679Taurodontia1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0006486HP:0000679Taurodontia1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0006486HP:0000679Taurodontia1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0006486HP:0000679Taurodontia1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0006486HP:0000679Taurodontia1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0006486HP:0000679Taurodontia1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0006486HP:0040220Abnormal size of the dental root1WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0006486HP:0000679Taurodontia1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0006486HP:0000679Taurodontia1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4
HP:0006486HP:0040220Abnormal size of the dental root1WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0006486HP:0000679Taurodontia1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0006486HP:0006336Short dental root2AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040282 - Frequent435
HP:0006486HP:0033189Radiculomegaly2BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0006486HP:0006336Short dental root2EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040282 - Frequent115
HP:0006486HP:0006336Short dental root2EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040282 - Frequent56
HP:0006486HP:0006336Short dental root2FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040282 - Frequent172
HP:0006486HP:0006336Short dental root2IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0006486HP:0006336Short dental root2IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040282 - Frequent99
HP:0006486HP:0006336Short dental root2LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040282 - Frequent26
HP:0006486HP:0006336Short dental root2MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040282 - Frequent12
HP:0006486HP:0006336Short dental root2PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040282 - Frequent58
HP:0006486HP:0006336Short dental root2SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0006486HP:0006336Short dental root2SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040282 - Frequent8
HP:0006486HP:0006336Short dental root2TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040282 - Frequent
HP:0006486HP:0006336Short dental root2TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0006486HP:0040221Hypoplasia of the dental root2TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0006486HP:0006336Short dental root2TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0006486HP:0006336Short dental root2WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040282 - Frequent71
HP:0006486HP:0006336Short dental root2WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040282 - Frequent4


Genes (50) :AXIN2 BCOR BRF1 CDH11 CTC1 DEAF1 DKC1 DLX3 EDA EDARADD FGF3 FGFR1 FLII GALNT3 GJA1 IFIH1 IFT122 IFT43 IFT52 IQSEC2 IRF6 LAMB3 LRP6 MSX1 NEK1 NHP2 NOP10 NPM1 OCRL PARN PAX9 PEX1 PEX6 RAI1 RTEL1 SMOC2 SUMO1 TERC TERT TGFA TINF2 TONSL TP63 TYMS USB1 WDR19 WDR35 WNT10A WNT10B WRAP53

Diseases (28) :ORPHA:99798 OMIM:300166 ORPHA:444072 OMIM:616202 ORPHA:1299 ORPHA:1775 ORPHA:819 OMIM:104510 ORPHA:3352 OMIM:190320 OMIM:305100 ORPHA:2791 OMIM:211900 OMIM:164200 ORPHA:2710 OMIM:182250 ORPHA:1515 OMIM:104530 OMIM:616724 ORPHA:2751 ORPHA:534 ORPHA:3220 OMIM:125400 ORPHA:93357 OMIM:271510 ORPHA:1896 OMIM:129400 OMIM:614378
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.