Human Phenotype Ontology 
Grandparent Node:
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Abnormal number of teeth (HP:0006483)help
Parent Node:
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Tooth agenesis (HP:0009804)help
..Starting node
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Hypodontia (HP:0000668)help
Term ID: 668
Name: Hypodontia
Synonym: Failure of development of between one and six teeth; Missing between one and six teeth
Definition: The absence of five or less teeth from the normal series by a failure to develop.
Comments:
Reference: HP:0000668
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAgenesis of permanent teeth (HP:0006349) help
..expandAnodontia (HP:0000674) help
..expandOligodontia (HP:0000677) help
..expandSelective tooth agenesis (HP:0001592) 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:0000668HP:0000668Hypodontia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0000668HP:0000668Hypodontia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000668HP:0000668Hypodontia0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000668HP:0000668Hypodontia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000668HP:0000668Hypodontia0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000668HP:0000668Hypodontia0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000668HP:0000668Hypodontia0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000668HP:0000668Hypodontia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000668HP:0000668Hypodontia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000668HP:0000668Hypodontia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000668HP:0000668Hypodontia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000668HP:0000668Hypodontia0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000668HP:0000668Hypodontia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000668HP:0000668Hypodontia0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000668HP:0000668Hypodontia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000668HP:0000668Hypodontia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000668HP:0000668Hypodontia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000668HP:0000668Hypodontia0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000668HP:0000668Hypodontia0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0000668HP:0000668Hypodontia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0000668HP:0000668Hypodontia0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0000668HP:0000668Hypodontia0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21.
HP:0000668HP:0000668Hypodontia0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0000668HP:0000668Hypodontia0CKAP2L CL E G H15046826877OMIM:272440Filippi syndromeHP:0040283 - Occasional7
HP:0000668HP:0000668Hypodontia0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0000668HP:0000668Hypodontia0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040283 - Occasional11
HP:0000668HP:0000668Hypodontia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000668HP:0000668Hypodontia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000668HP:0000668Hypodontia0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000668HP:0000668Hypodontia0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000668HP:0000668Hypodontia0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000668HP:0000668Hypodontia0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000668HP:0000668Hypodontia0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000668HP:0000668Hypodontia0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000668HP:0000668Hypodontia0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0000668HP:0000668Hypodontia0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000668HP:0000668Hypodontia0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000668HP:0000668Hypodontia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000668HP:0000668Hypodontia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000668HP:0000668Hypodontia0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000668HP:0000668Hypodontia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000668HP:0000668Hypodontia0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0000668HP:0000668Hypodontia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040283 - Occasional5
HP:0000668HP:0000668Hypodontia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000668HP:0000668Hypodontia0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000668HP:0000668Hypodontia0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000668HP:0000668Hypodontia0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent7
HP:0000668HP:0000668Hypodontia0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0000668HP:0000668Hypodontia0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000668HP:0000668Hypodontia0EDA CL E G H18963157OMIM:313500TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1115
HP:0000668HP:0000668Hypodontia0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0000668HP:0000668Hypodontia0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0000668HP:0000668Hypodontia0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0000668HP:0000668Hypodontia0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0000668HP:0000668Hypodontia0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0000668HP:0000668Hypodontia0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000668HP:0000668Hypodontia0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant.56
HP:0000668HP:0000668Hypodontia0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000668HP:0000668Hypodontia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000668HP:0000668Hypodontia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000668HP:0000668Hypodontia0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000668HP:0000668Hypodontia0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000668HP:0000668Hypodontia0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0000668HP:0000668Hypodontia0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent209
HP:0000668HP:0000668Hypodontia0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000668HP:0000668Hypodontia0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0000668HP:0000668Hypodontia0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent137
HP:0000668HP:0000668Hypodontia0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000668HP:0000668Hypodontia0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000668HP:0000668Hypodontia0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000668HP:0000668Hypodontia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0000668HP:0000668Hypodontia0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000668HP:0000668Hypodontia0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000668HP:0000668Hypodontia0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000668HP:0000668Hypodontia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0000668HP:0000668Hypodontia0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000668HP:0000668Hypodontia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0000668HP:0000668Hypodontia0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000668HP:0000668Hypodontia0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000668HP:0000668Hypodontia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000668HP:0000668Hypodontia0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000668HP:0000668Hypodontia0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000668HP:0000668Hypodontia0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000668HP:0000668Hypodontia0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000668HP:0000668Hypodontia0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000668HP:0000668Hypodontia0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000668HP:0000668Hypodontia0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040282 - Frequent52
HP:0000668HP:0000668Hypodontia0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0000668HP:0000668Hypodontia0GRHL3 CL E G H5782225839ORPHA:888Van der Woude syndromeHP:0040283 - Occasional12
HP:0000668HP:0000668Hypodontia0GRHL3 CL E G H5782225839OMIM:606713Van der woude syndrome 212
HP:0000668HP:0000668Hypodontia0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000668HP:0000668Hypodontia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0000668HP:0000668Hypodontia0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000668HP:0000668Hypodontia0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000668HP:0000668Hypodontia0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent93
HP:0000668HP:0000668Hypodontia0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000668HP:0000668Hypodontia0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent11
HP:0000668HP:0000668Hypodontia0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent4
HP:0000668HP:0000668Hypodontia0IKBKG CL E G H85175961OMIM:300636Immunodeficiency 3352
HP:0000668HP:0000668Hypodontia0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000668HP:0000668Hypodontia0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0000668HP:0000668Hypodontia0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional99
HP:0000668HP:0000668Hypodontia0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040284 - Very rare99
HP:0000668HP:0000668Hypodontia0IRF6 CL E G H36646121ORPHA:888Van der Woude syndromeHP:0040283 - Occasional99
HP:0000668HP:0000668Hypodontia0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0000668HP:0000668Hypodontia0IRX5 CL E G H1026514361OMIM:611174Hamamy syndromeHP:0040283 - Occasional4
HP:0000668HP:0000668Hypodontia0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000668HP:0000668Hypodontia0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0000668HP:0000668Hypodontia0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000668HP:0000668Hypodontia0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000668HP:0000668Hypodontia0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0000668HP:0000668Hypodontia0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0000668HP:0000668Hypodontia0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000668HP:0000668Hypodontia0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040281 - Very frequent38
HP:0000668HP:0000668Hypodontia0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0000668HP:0000668Hypodontia0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type.167
HP:0000668HP:0000668Hypodontia0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0000668HP:0000668Hypodontia0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000668HP:0000668Hypodontia0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000668HP:0000668Hypodontia0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000668HP:0000668Hypodontia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0000668HP:0000668Hypodontia0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0000668HP:0000668Hypodontia0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000668HP:0000668Hypodontia0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000668HP:0000668Hypodontia0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent22
HP:0000668HP:0000668Hypodontia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040284 - Very rare57
HP:0000668HP:0000668Hypodontia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000668HP:0000668Hypodontia0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional12
HP:0000668HP:0000668Hypodontia0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0000668HP:0000668Hypodontia0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040284 - Very rare12
HP:0000668HP:0000668Hypodontia0MSX1 CL E G H44877391OMIM:106600Tooth agenesis, selective, 1.12
HP:0000668HP:0000668Hypodontia0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000668HP:0000668Hypodontia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000668HP:0000668Hypodontia0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000668HP:0000668Hypodontia0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional4
HP:0000668HP:0000668Hypodontia0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0000668HP:0000668Hypodontia0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:0000668HP:0000668Hypodontia0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040284 - Very rare4
HP:0000668HP:0000668Hypodontia0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0000668HP:0000668Hypodontia0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0000668HP:0000668Hypodontia0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0000668HP:0000668Hypodontia0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0000668HP:0000668Hypodontia0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0000668HP:0000668Hypodontia0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0000668HP:0000668Hypodontia0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000668HP:0000668Hypodontia0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0000668HP:0000668Hypodontia0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000668HP:0000668Hypodontia0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0000668HP:0000668Hypodontia0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000668HP:0000668Hypodontia0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000668HP:0000668Hypodontia0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0000668HP:0000668Hypodontia0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000668HP:0000668Hypodontia0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0000668HP:0000668Hypodontia0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0000668HP:0000668Hypodontia0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0000668HP:0000668Hypodontia0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000668HP:0000668Hypodontia0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000668HP:0000668Hypodontia0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000668HP:0000668Hypodontia0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000668HP:0000668Hypodontia0POLR1C CL E G H953320194ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent38
HP:0000668HP:0000668Hypodontia0POLR3A CL E G H1112830074ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent138
HP:0000668HP:0000668Hypodontia0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0000668HP:0000668Hypodontia0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000668HP:0000668Hypodontia0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000668HP:0000668Hypodontia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000668HP:0000668Hypodontia0POLR3B CL E G H5570330348ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent67
HP:0000668HP:0000668Hypodontia0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0000668HP:0000668Hypodontia0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000668HP:0000668Hypodontia0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2HP:0040283 - Occasional6
HP:0000668HP:0000668Hypodontia0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000668HP:0000668Hypodontia0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0000668HP:0000668Hypodontia0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000668HP:0000668Hypodontia0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000668HP:0000668Hypodontia0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000668HP:0000668Hypodontia0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000668HP:0000668Hypodontia0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000668HP:0000668Hypodontia0PTH1R CL E G H57459608OMIM:125350Dental noneruption.58
HP:0000668HP:0000668Hypodontia0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000668HP:0000668Hypodontia0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0000668HP:0000668Hypodontia0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0000668HP:0000668Hypodontia0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000668HP:0000668Hypodontia0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000668HP:0000668Hypodontia0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0000668HP:0000668Hypodontia0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0000668HP:0000668Hypodontia0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0000668HP:0000668Hypodontia0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0000668HP:0000668Hypodontia0SCNM1 CL E G H7900523136OMIM:620107
HP:0000668HP:0000668Hypodontia0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000668HP:0000668Hypodontia0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000668HP:0000668Hypodontia0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0000668HP:0000668Hypodontia0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0000668HP:0000668Hypodontia0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000668HP:0000668Hypodontia0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0000668HP:0000668Hypodontia0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0000668HP:0000668Hypodontia0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000668HP:0000668Hypodontia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0000668HP:0000668Hypodontia0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0000668HP:0000668Hypodontia0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0000668HP:0000668Hypodontia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0000668HP:0000668Hypodontia0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0000668HP:0000668Hypodontia0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0000668HP:0000668Hypodontia0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0000668HP:0000668Hypodontia0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0000668HP:0000668Hypodontia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional140
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040284 - Very rare140
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0000668HP:0000668Hypodontia0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000668HP:0000668Hypodontia0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0000668HP:0000668Hypodontia0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0000668HP:0000668Hypodontia0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040282 - Frequent151
HP:0000668HP:0000668Hypodontia0TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.39
HP:0000668HP:0000668Hypodontia0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000668HP:0000668Hypodontia0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0000668HP:0000668Hypodontia0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000668HP:0000668Hypodontia0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0000668HP:0000668Hypodontia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000668HP:0000668Hypodontia0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent95
HP:0000668HP:0000668Hypodontia0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent136
HP:0000668HP:0000668Hypodontia0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0000668HP:0000668Hypodontia0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040282 - Frequent71
HP:0000668HP:0000668Hypodontia0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0000668HP:0000668Hypodontia0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0000668HP:0000668Hypodontia0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0000668HP:0000668Hypodontia0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0000668HP:0000668Hypodontia0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2.14
HP:0000668HP:0000668Hypodontia0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000668HP:0000668Hypodontia0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83


Genes (200) :AARS1 ACOX1 ACTL6B ADAMTS2 AP3B2 APC APC2 ARL6 ARV1 ATP1A2 ATP1A3 ATP6V1A ATP6V1B2 BAZ1B BBS1 BCL11B BCL7B BUD23 CACNA1A CACNA1B CACNA2D1 CCDC28B CDH1 CDK19 CELF2 CEP152 CEP85L CFAP418 CHSY1 CKAP2L CLDN1 CLIP2 CLTC CNKSR2 CPLX1 CREBBP CTBP1 CTC1 CTSK CYFIP2 DALRD3 DDX59 DHDDS DKC1 DNAJC21 DNAJC30 DNM1 DVL1 DVL3 DYNC2LI1 EDA EDAR EDARADD EEF1A2 EIF4H ELN EP300 EVC EVC2 FGD1 FGF10 FGF12 FGF13 FGF3 FGFR2 FGFR3 FGFRL1 FKBP6 FLNB FOXC1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GDF5 GLI1 GRHL2 GRHL3 GRIN2D GTF2I GTF2IRD1 GTF2IRD2 HCN1 HMGA2 HSPA9 IFT122 IFT43 IFT52 IKBKG IRF6 IRX5 KCNA2 KCNB1 KCNH1 KCNN3 KDF1 KDM6A KIF1C KMT2D LAMB3 LEMD2 LEMD3 LETM1 LIMK1 LMNA LRP4 MAPK8IP3 MBTPS2 METTL27 MID1 MLXIPL MSX1 MTX2 NCF1 NECAP1 NECTIN1 NELFA NFKBIA NHP2 NKX2-1 NOP10 NPM1 NSD1 NSD2 NTRK2 NUS1 NXN OFD1 OTUD5 PARN PARS2 PERP PIGG PIGL PIK3R1 PITX2 POLR1C POLR3A POLR3B POLR3K POP1 PORCN PPP2R3C PPP3CA PRKACA PRKACB PRKAR1A PTH1R PUS7 RBM28 RFC2 RMRP RNF13 ROR2 RPS6KA3 RTEL1 SCN3A SCN8A SCNM1 SCUBE3 SETD2 SLC13A5 SLC1A2 SLC38A3 SLC39A13 SMARCAL1 SMG8 STX1A SYNGAP1 SYNJ1 SZT2 TBL2 TBX3 TERC TERT TINF2 TMEM270 TP63 TRAF6 TRAK1 TRIM37 TRPV3 TSPEAR TWIST2 TYMS UBA5 USB1 VPS37D WDR19 WDR35 WNT10A WNT5A WRAP53 WWOX XYLT1 YWHAG ZMPSTE24

Diseases (125) :ORPHA:442835 ORPHA:2971 OMIM:225410 ORPHA:3258 ORPHA:821 OMIM:209900 ORPHA:3473 ORPHA:904 OMIM:618092 OMIM:119580 OMIM:613823 OMIM:618873 OMIM:617406 ORPHA:363417 OMIM:272440 OMIM:607626 ORPHA:59303 OMIM:194190 ORPHA:280 ORPHA:353281 ORPHA:353277 ORPHA:1775 ORPHA:763 OMIM:265800 ORPHA:2919 OMIM:174300 OMIM:617052 ORPHA:3107 ORPHA:289 OMIM:617088 OMIM:305100 OMIM:313500 ORPHA:1810 OMIM:129490 OMIM:224900 OMIM:614940 OMIM:614941 OMIM:194050 ORPHA:353284 ORPHA:952 OMIM:225500 OMIM:305400 OMIM:149730 ORPHA:2363 ORPHA:90024 OMIM:150250 ORPHA:782 OMIM:602482 ORPHA:63442 OMIM:616029 ORPHA:888 OMIM:606713 ORPHA:94063 OMIM:616854 ORPHA:1515 OMIM:218330 OMIM:300636 OMIM:308300 ORPHA:464 ORPHA:141291 ORPHA:199302 OMIM:119300 OMIM:611174 ORPHA:2322 OMIM:300867 ORPHA:397946 OMIM:226650 OMIM:619322 ORPHA:740 OMIM:212780 OMIM:618443 ORPHA:659 ORPHA:2745 ORPHA:2228 OMIM:106600 OMIM:619127 OMIM:225060 ORPHA:3253 OMIM:612132 ORPHA:209905 ORPHA:1507 ORPHA:2750 OMIM:301056 ORPHA:3474 OMIM:269880 OMIM:180500 ORPHA:88637 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:619310 OMIM:617396 OMIM:305600 OMIM:618419 OMIM:619143 OMIM:101800 OMIM:125350 OMIM:618342 OMIM:612079 ORPHA:157954 OMIM:607095 ORPHA:544503 OMIM:303600 ORPHA:192 OMIM:620107 OMIM:619184 OMIM:615905 OMIM:612350 ORPHA:1830 OMIM:619268 OMIM:181450 ORPHA:3138 OMIM:103285 OMIM:106260 ORPHA:69085 OMIM:603543 OMIM:129400 OMIM:253250 OMIM:618180 OMIM:209885 OMIM:257980 ORPHA:50944 OMIM:224750 OMIM:615777
 

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