Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Abnormality of dental structure (HP:0011061)help
..Starting node
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Carious teeth (HP:0000670)help
Term ID: 670
Name: Carious teeth
Synonym: Caries; Cariosity of teeth; Dental caries; Dental cavities; Dental decay; Early dental caries; Frequent caries; Rotting teeth; Tooth cavities; Tooth decay
Definition: Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Comments:
Reference: HP:0000670
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cementum morphology (HP:0100717) help
..expandAbnormal dental enamel morphology (HP:0000682) help
..expandAbnormal dental pulp morphology (HP:0006479) help
..expandAbnormal dentin morphology (HP:0010299) help
..expandAbnormality of dental color (HP:0011073) 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:0000670HP:0000670Carious teeth0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000670HP:0000670Carious teeth0ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:0000670HP:0000670Carious teeth0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional530
HP:0000670HP:0000670Carious teeth0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040282 - Frequent76
HP:0000670HP:0000670Carious teeth0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000670HP:0000670Carious teeth0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0000670HP:0000670Carious teeth0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0000670HP:0000670Carious teeth0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000670HP:0000670Carious teeth0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000670HP:0000670Carious teeth0APC CL E G H324583OMIM:175100Adenomatous polyposis coliHP:0040283 - Occasional3179
HP:0000670HP:0000670Carious teeth0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0000670HP:0000670Carious teeth0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000670HP:0000670Carious teeth0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000670HP:0000670Carious teeth0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000670HP:0000670Carious teeth0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000670HP:0000670Carious teeth0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000670HP:0000670Carious teeth0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000670HP:0000670Carious teeth0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000670HP:0000670Carious teeth0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial.168
HP:0000670HP:0000670Carious teeth0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0000670HP:0000670Carious teeth0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent11
HP:0000670HP:0000670Carious teeth0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040282 - Frequent1003
HP:0000670HP:0000670Carious teeth0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000670HP:0000670Carious teeth0CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040282 - Frequent87
HP:0000670HP:0000670Carious teeth0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040283 - Occasional102
HP:0000670HP:0000670Carious teeth0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome.61
HP:0000670HP:0000670Carious teeth0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0000670HP:0000670Carious teeth0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0000670HP:0000670Carious teeth0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000670HP:0000670Carious teeth0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0000670HP:0000670Carious teeth0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040283 - Occasional284
HP:0000670HP:0000670Carious teeth0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000670HP:0000670Carious teeth0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0000670HP:0000670Carious teeth0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent263
HP:0000670HP:0000670Carious teeth0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040283 - Occasional263
HP:0000670HP:0000670Carious teeth0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0000670HP:0000670Carious teeth0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0000670HP:0000670Carious teeth0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000670HP:0000670Carious teeth0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0000670HP:0000670Carious teeth0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000670HP:0000670Carious teeth0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000670HP:0000670Carious teeth0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000670HP:0000670Carious teeth0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0000670HP:0000670Carious teeth0CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000670HP:0000670Carious teeth0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000670HP:0000670Carious teeth0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0000670HP:0000670Carious teeth0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000670HP:0000670Carious teeth0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0000670HP:0000670Carious teeth0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0DPH5 CL E G H5161124270OMIM:620070
HP:0000670HP:0000670Carious teeth0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0000670HP:0000670Carious teeth0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000670HP:0000670Carious teeth0ENPP1 CL E G H51673356OMIM:613312Hypophosphatemic rickets, autosomal recessive, 2HP:0040284 - Very rare151
HP:0000670HP:0000670Carious teeth0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000670HP:0000670Carious teeth0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000670HP:0000670Carious teeth0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000670HP:0000670Carious teeth0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000670HP:0000670Carious teeth0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000670HP:0000670Carious teeth0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000670HP:0000670Carious teeth0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000670HP:0000670Carious teeth0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000670HP:0000670Carious teeth0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000670HP:0000670Carious teeth0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0000670HP:0000670Carious teeth0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0000670HP:0000670Carious teeth0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000670HP:0000670Carious teeth0FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands.17
HP:0000670HP:0000670Carious teeth0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000670HP:0000670Carious teeth0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0000670HP:0000670Carious teeth0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040281 - Very frequent18
HP:0000670HP:0000670Carious teeth0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000670HP:0000670Carious teeth0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0000670HP:0000670Carious teeth0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0000670HP:0000670Carious teeth0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000670HP:0000670Carious teeth0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000670HP:0000670Carious teeth0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0000670HP:0000670Carious teeth0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000670HP:0000670Carious teeth0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000670HP:0000670Carious teeth0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000670HP:0000670Carious teeth0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000670HP:0000670Carious teeth0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000670HP:0000670Carious teeth0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000670HP:0000670Carious teeth0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000670HP:0000670Carious teeth0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000670HP:0000670Carious teeth0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000670HP:0000670Carious teeth0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000670HP:0000670Carious teeth0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000670HP:0000670Carious teeth0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent2
HP:0000670HP:0000670Carious teeth0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0000670HP:0000670Carious teeth0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000670HP:0000670Carious teeth0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000670HP:0000670Carious teeth0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent4
HP:0000670HP:0000670Carious teeth0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000670HP:0000670Carious teeth0KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1.6
HP:0000670HP:0000670Carious teeth0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0000670HP:0000670Carious teeth0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000670HP:0000670Carious teeth0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0000670HP:0000670Carious teeth0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0000670HP:0000670Carious teeth0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type.167
HP:0000670HP:0000670Carious teeth0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0000670HP:0000670Carious teeth0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0000670HP:0000670Carious teeth0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000670HP:0000670Carious teeth0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000670HP:0000670Carious teeth0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent22
HP:0000670HP:0000670Carious teeth0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000670HP:0000670Carious teeth0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000670HP:0000670Carious teeth0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000670HP:0000670Carious teeth0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000670HP:0000670Carious teeth0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000670HP:0000670Carious teeth0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent6
HP:0000670HP:0000670Carious teeth0MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040282 - Frequent52
HP:0000670HP:0000670Carious teeth0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000670HP:0000670Carious teeth0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional516
HP:0000670HP:0000670Carious teeth0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000670HP:0000670Carious teeth0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000670HP:0000670Carious teeth0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0000670HP:0000670Carious teeth0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0000670HP:0000670Carious teeth0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0000670HP:0000670Carious teeth0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0000670HP:0000670Carious teeth0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000670HP:0000670Carious teeth0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0000670HP:0000670Carious teeth0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000670HP:0000670Carious teeth0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000670HP:0000670Carious teeth0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0000670HP:0000670Carious teeth0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0000670HP:0000670Carious teeth0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000670HP:0000670Carious teeth0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional40
HP:0000670HP:0000670Carious teeth0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0000670HP:0000670Carious teeth0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0000670HP:0000670Carious teeth0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0000670HP:0000670Carious teeth0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0000670HP:0000670Carious teeth0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000670HP:0000670Carious teeth0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000670HP:0000670Carious teeth0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000670HP:0000670Carious teeth0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000670HP:0000670Carious teeth0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000670HP:0000670Carious teeth0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0000670HP:0000670Carious teeth0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000670HP:0000670Carious teeth0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000670HP:0000670Carious teeth0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000670HP:0000670Carious teeth0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0000670HP:0000670Carious teeth0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000670HP:0000670Carious teeth0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000670HP:0000670Carious teeth0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0000670HP:0000670Carious teeth0SCNM1 CL E G H7900523136OMIM:620107
HP:0000670HP:0000670Carious teeth0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000670HP:0000670Carious teeth0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000670HP:0000670Carious teeth0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0SFRP4 CL E G H642410778OMIM:265900Pyle disease.3
HP:0000670HP:0000670Carious teeth0SGMS2 CL E G H16692928395OMIM:126550Calvarial doughnut lesions with bone fragility
HP:0000670HP:0000670Carious teeth0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0000670HP:0000670Carious teeth0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisHP:0040284 - Very rare
HP:0000670HP:0000670Carious teeth0SLC24A4 CL E G H12304110978OMIM:615887Amelogenesis imperfecta, hypomaturation type, iia5.4
HP:0000670HP:0000670Carious teeth0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0000670HP:0000670Carious teeth0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000670HP:0000670Carious teeth0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000670HP:0000670Carious teeth0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000670HP:0000670Carious teeth0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000670HP:0000670Carious teeth0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000670HP:0000670Carious teeth0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000670HP:0000670Carious teeth0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000670HP:0000670Carious teeth0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52
HP:0000670HP:0000670Carious teeth0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0000670HP:0000670Carious teeth0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000670HP:0000670Carious teeth0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0000670HP:0000670Carious teeth0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0000670HP:0000670Carious teeth0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0000670HP:0000670Carious teeth0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0000670HP:0000670Carious teeth0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0000670HP:0000670Carious teeth0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0000670HP:0000670Carious teeth0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0000670HP:0000670Carious teeth0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0000670HP:0000670Carious teeth0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040282 - Frequent1
HP:0000670HP:0000670Carious teeth0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0000670HP:0000670Carious teeth0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0000670HP:0000670Carious teeth0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0000670HP:0000670Carious teeth0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000670HP:0000670Carious teeth0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0000670HP:0000670Carious teeth0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000670HP:0000670Carious teeth0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000670HP:0000670Carious teeth0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent151
HP:0000670HP:0000670Carious teeth0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0000670HP:0000670Carious teeth0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000670HP:0000670Carious teeth0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000670HP:0000670Carious teeth0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0000670HP:0000670Carious teeth0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000670HP:0000670Carious teeth0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional777
HP:0000670HP:0000670Carious teeth0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0000670HP:0000670Carious teeth0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000670HP:0000670Carious teeth0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional155
HP:0000670HP:0000670Carious teeth0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0000670HP:0000670Carious teeth0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC


Genes (169) :ABL1 ACP4 ADGRV1 AGA AKT1 ALPL ANAPC1 AP3B1 APC ARSB ARVCF ATP6V0A2 ATP6V1A ATP6V1E1 ATR B3GALT6 BAZ1B BCL7B BUD23 CARS1 CAV1 CCN2 CCR6 CDH1 CDH11 CDH3 CLCN7 CLIP2 CNNM4 COG6 COL17A1 COL2A1 COL3A1 COL7A1 COMT COX4I2 CREBBP CRLF1 CTC1 CTNND1 CTSK DKC1 DNAJC21 DNAJC30 DPH5 EFL1 EIF4H ELN ENPP1 EP300 ERCC2 ERCC3 ERCC6 ERCC8 FAM111A FERMT1 FGF10 FGF3 FGFR2 FGFR3 FKBP6 GALNS GJA1 GLB1 GP1BB GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HERC2 HIRA HLA-DRB1 IFIH1 IFT52 IPW IRF5 JMJD1C KLK4 KRT14 LAMA3 LAMB3 LAMC2 LIFR LIMK1 MAGEL2 MAPRE2 MBTPS2 MEGF8 METTL27 MKRN3 MKRN3-AS1 MLXIPL MMP1 MMP13 MPLKIP MYO7A NCF1 NECTIN1 NHP2 NOP10 NPAP1 NPM1 OCRL OFD1 PARN PAX1 PDZD7 PEPD PERP PKP1 PLEC PPP1CB PTCH1 PTCH2 PTEN PWAR1 PWRN1 RBM28 RECQL4 RFC2 RNF113A RREB1 RTEL1 RUNX2 SATB1 SBDS SCNM1 SEC23A SEC24C SFRP4 SGMS2 SHOC2 SLC10A7 SLC24A4 SLC37A4 SNORD115-1 SNORD116-1 SNRPN SOX9 SRCAP SRP54 STX1A SUFU TARS1 TBCE TBL2 TBX1 TCIRG1 TERC TERT TGFB1 THOC6 TINF2 TMEM270 TNFSF11 TP63 TRPS1 TRPV3 TYMS UBE3B UFD1 USB1 USH2A VDR VPS37D WHRN WRAP53 ZMYM2

Diseases (124) :OMIM:617602 OMIM:617297 ORPHA:231178 ORPHA:93 ORPHA:744 OMIM:146300 OMIM:241510 ORPHA:221008 OMIM:608233 OMIM:175100 OMIM:253200 ORPHA:567 ORPHA:357074 OMIM:219200 ORPHA:2834 OMIM:278250 OMIM:614564 ORPHA:536467 ORPHA:904 ORPHA:33364 ORPHA:220393 ORPHA:1997 ORPHA:1299 ORPHA:1897 ORPHA:53 OMIM:217080 ORPHA:363523 OMIM:615328 OMIM:619787 ORPHA:79406 ORPHA:93346 ORPHA:286 ORPHA:89842 ORPHA:79408 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:612714 ORPHA:353281 ORPHA:353277 OMIM:272430 ORPHA:1775 ORPHA:763 OMIM:265800 OMIM:305000 ORPHA:811 OMIM:620070 OMIM:613312 OMIM:613684 ORPHA:353284 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:216400 ORPHA:93325 ORPHA:2908 OMIM:173650 OMIM:180920 OMIM:149730 ORPHA:2363 ORPHA:2791 OMIM:253000 ORPHA:2710 OMIM:164200 OMIM:253010 OMIM:616395 OMIM:176270 OMIM:182250 OMIM:617102 OMIM:204700 OMIM:161000 ORPHA:69087 OMIM:226700 OMIM:226650 OMIM:601559 OMIM:616734 ORPHA:659 OMIM:614976 ORPHA:2501 ORPHA:3253 OMIM:224230 ORPHA:534 OMIM:311200 OMIM:616353 OMIM:615560 ORPHA:742 ORPHA:158668 OMIM:226670 ORPHA:2701 ORPHA:377 OMIM:612079 ORPHA:157954 ORPHA:221016 ORPHA:1452 OMIM:619229 OMIM:620107 OMIM:607812 ORPHA:50814 OMIM:265900 OMIM:126550 OMIM:618363 OMIM:615887 ORPHA:79259 ORPHA:177907 OMIM:114290 OMIM:136140 ORPHA:2044 ORPHA:93324 OMIM:244460 OMIM:259700 OMIM:127550 OMIM:131300 ORPHA:1328 OMIM:613680 ORPHA:363444 OMIM:259710 OMIM:604292 ORPHA:1896 OMIM:129400 OMIM:190350 OMIM:244450 OMIM:604173 OMIM:277440 OMIM:619522
 

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