Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
expand
Abnormality of dental structure (HP:0011061)help
..Starting node
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Abnormal dental pulp morphology (HP:0006479)help
Term ID: 6479
Name: Abnormal dental pulp morphology
Synonym: Abnormality of the dental pulp; Abnormality of tooth pulp; Endodontic abnormality
Definition: An abnormality of the dental pulp.
Comments:
Reference: HP:0006479
Genes and Diseases:
 
       Child Nodes:
........expandTaurodontia (HP:0000679) help
........expandPulp stones (HP:0003771) help
........expandDagger-shaped pulp calcifications (HP:0006302) help
........expandObliteration of the pulp chamber (HP:0006350) help

 Sister Nodes: 
..expandAbnormal cementum morphology (HP:0100717) help
..expandAbnormal dental enamel morphology (HP:0000682) help
..expandAbnormal dentin morphology (HP:0010299) help
..expandAbnormality of dental color (HP:0011073) help
..expandCarious teeth (HP:0000670) help
..expandHypoplasia of teeth (HP:0000685) help
..expandTooth abscess (HP:0030757) 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:0006479HP:0006479Abnormal dental pulp morphology0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0006479HP:0006479Abnormal dental pulp morphology0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0006479HP:0006479Abnormal dental pulp morphology0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0006479HP:0006479Abnormal dental pulp morphology0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0006479HP:0006479Abnormal dental pulp morphology0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0006479HP:0006479Abnormal dental pulp morphology0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0006479HP:0006479Abnormal dental pulp morphology0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0006479HP:0006479Abnormal dental pulp morphology0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0006479HP:0006479Abnormal dental pulp morphology0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0006479HP:0006479Abnormal dental pulp morphology0DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0006479HP:0006479Abnormal dental pulp morphology0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:0006479HP:0006479Abnormal dental pulp morphology0DLX3 CL E G H17472916OMIM:190320Trichodentoosseous syndrome48
HP:0006479HP:0006479Abnormal dental pulp morphology0DSPP CL E G H18343054OMIM:125420Dentin dysplasia, type II38
HP:0006479HP:0006479Abnormal dental pulp morphology0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0006479HP:0006479Abnormal dental pulp morphology0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0006479HP:0006479Abnormal dental pulp morphology0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0006479HP:0006479Abnormal dental pulp morphology0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0006479HP:0006479Abnormal dental pulp morphology0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040281 - Very frequent18
HP:0006479HP:0006479Abnormal dental pulp morphology0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0006479HP:0006479Abnormal dental pulp morphology0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0006479HP:0006479Abnormal dental pulp morphology0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 146
HP:0006479HP:0006479Abnormal dental pulp morphology0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0006479HP:0006479Abnormal dental pulp morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0006479HP:0006479Abnormal dental pulp morphology0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0006479HP:0006479Abnormal dental pulp morphology0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0006479HP:0006479Abnormal dental pulp morphology0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0006479HP:0006479Abnormal dental pulp morphology0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0006479HP:0006479Abnormal dental pulp morphology0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0006479HP:0006479Abnormal dental pulp morphology0LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA167
HP:0006479HP:0006479Abnormal dental pulp morphology0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0006479HP:0006479Abnormal dental pulp morphology0LRP6 CL E G H40406698OMIM:616724Tooth agenesis, selective, 726
HP:0006479HP:0006479Abnormal dental pulp morphology0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0006479HP:0006479Abnormal dental pulp morphology0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0006479HP:0006479Abnormal dental pulp morphology0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0006479HP:0006479Abnormal dental pulp morphology0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0006479HP:0006479Abnormal dental pulp morphology0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0006479HP:0006479Abnormal dental pulp morphology0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0006479HP:0006479Abnormal dental pulp morphology0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0006479HP:0006479Abnormal dental pulp morphology0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0006479HP:0006479Abnormal dental pulp morphology0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0006479HP:0006479Abnormal dental pulp morphology0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome169
HP:0006479HP:0006479Abnormal dental pulp morphology0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome98
HP:0006479HP:0006479Abnormal dental pulp morphology0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0006479HP:0006479Abnormal dental pulp morphology0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0006479HP:0006479Abnormal dental pulp morphology0SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0006479HP:0006479Abnormal dental pulp morphology0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0006479HP:0006479Abnormal dental pulp morphology0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0006479HP:0006479Abnormal dental pulp morphology0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0006479HP:0006479Abnormal dental pulp morphology0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0006479HP:0006479Abnormal dental pulp morphology0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0006479HP:0006479Abnormal dental pulp morphology0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0006479HP:0006479Abnormal dental pulp morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0006479HP:0006479Abnormal dental pulp morphology0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0006479HP:0006479Abnormal dental pulp morphology0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0006479HP:0006479Abnormal dental pulp morphology0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0006479HP:0006479Abnormal dental pulp morphology0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0006479HP:0006479Abnormal dental pulp morphology0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0006479HP:0006479Abnormal dental pulp morphology0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0006479HP:0006479Abnormal dental pulp morphology0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0006479HP:0006479Abnormal dental pulp morphology0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0006479HP:0033790Thistle tube shaped pulp1 CL E G H
HP:0006479HP:0000679Taurodontia1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0006479HP:0000679Taurodontia1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0006479HP:0000679Taurodontia1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0006479HP:0003771Pulp calcification1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0006479HP:0003771Pulp calcification1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent660
HP:0006479HP:0003771Pulp calcification1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040282 - Frequent325
HP:0006479HP:0000679Taurodontia1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0006479HP:0000679Taurodontia1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0006479HP:0000679Taurodontia1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0006479HP:0000679Taurodontia1DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0006479HP:0000679Taurodontia1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:0006479HP:0000679Taurodontia1DLX3 CL E G H17472916OMIM:190320Trichodentoosseous syndrome.48
HP:0006479HP:0003771Pulp calcification1DSPP CL E G H18343054OMIM:125420Dentin dysplasia, type II.38
HP:0006479HP:0000679Taurodontia1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0006479HP:0000679Taurodontia1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0006479HP:0000679Taurodontia1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0006479HP:0003771Pulp calcification1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0006479HP:0003771Pulp calcification1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0006479HP:0000679Taurodontia1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0006479HP:0000679Taurodontia1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0006479HP:0000679Taurodontia1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0006479HP:0000679Taurodontia1GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0006479HP:0003771Pulp calcification1GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0006479HP:0000679Taurodontia1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0006479HP:0000679Taurodontia1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0006479HP:0000679Taurodontia1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0006479HP:0000679Taurodontia1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0006479HP:0000679Taurodontia1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0006479HP:0000679Taurodontia1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0006479HP:0000679Taurodontia1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0006479HP:0000679Taurodontia1LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IAHP:0040283 - Occasional167
HP:0006479HP:0000679Taurodontia1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0006479HP:0000679Taurodontia1LRP6 CL E G H40406698OMIM:616724Tooth agenesis, selective, 7HP:0040283 - Occasional26
HP:0006479HP:0000679Taurodontia1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0006479HP:0000679Taurodontia1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0006479HP:0000679Taurodontia1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0006479HP:0000679Taurodontia1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0006479HP:0000679Taurodontia1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0006479HP:0000679Taurodontia1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0006479HP:0000679Taurodontia1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0006479HP:0000679Taurodontia1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0006479HP:0000679Taurodontia1PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0006479HP:0000679Taurodontia1PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0006479HP:0000679Taurodontia1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0006479HP:0000679Taurodontia1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0006479HP:0000679Taurodontia1SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teethHP:0040283 - Occasional4
HP:0006479HP:0006350Pulp obliteration1SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth.4
HP:0006479HP:0000679Taurodontia1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0006479HP:0000679Taurodontia1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0006479HP:0000679Taurodontia1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0006479HP:0000679Taurodontia1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0006479HP:0000679Taurodontia1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0006479HP:0000679Taurodontia1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0006479HP:0000679Taurodontia1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0006479HP:0000679Taurodontia1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0006479HP:0000679Taurodontia1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0006479HP:0000679Taurodontia1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0006479HP:0000679Taurodontia1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0006479HP:0000679Taurodontia1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0006479HP:0000679Taurodontia1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0006479HP:0000679Taurodontia1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4
HP:0006479HP:0000679Taurodontia1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0006479HP:0006302Dagger-shaped pulp calcifications2FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16


Genes (52) :AXIN2 BRF1 COL1A1 COL5A1 COL5A2 CTC1 DEAF1 DKC1 DLX3 DSPP EDA EDARADD FAM20A FGF3 FGFR1 FLII GALNT3 GJA1 IFT122 IFT43 IFT52 IQSEC2 IRF6 LAMB3 LRP6 MSX1 NEK1 NF1 NHP2 NOP10 NPM1 OCRL PARN PAX9 PEX1 PEX6 RAI1 RTEL1 SMOC2 SUMO1 TERC TERT TGFA TINF2 TP63 TYMS USB1 WDR19 WDR35 WNT10A WNT10B WRAP53

Diseases (27) :ORPHA:99798 ORPHA:444072 OMIM:616202 ORPHA:287 ORPHA:1775 ORPHA:819 OMIM:104510 ORPHA:3352 OMIM:190320 OMIM:125420 OMIM:305100 OMIM:204690 ORPHA:2791 OMIM:211900 OMIM:164200 ORPHA:2710 ORPHA:1515 OMIM:104530 OMIM:616724 ORPHA:2751 ORPHA:363700 ORPHA:534 ORPHA:3220 OMIM:125400 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.