Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of connective tissue (HP:0003549)help
Parent Node:
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Abnormality of the skeletal system (HP:0000924)help
..Starting node
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Abnormal odontoid tissue morphology (HP:3000050)help
Term ID: 3000050
Name: Abnormal odontoid tissue morphology
Synonym: Abnormality of hard tissues of teeth; Abnormality of odontoid tissue; Abnormality of tooth hard tissue
Definition: An abnormality of an odontoid tissue.
Comments:
Reference: HP:3000050
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of dental enamel (HP:0000682) help
................... HP:0000683 Grayish enamel
................... HP:0000705 Amelogenesis imperfecta
................... HP:0006285 Hypomineralization of enamel
................... HP:0006297 Hypoplasia of dental enamel
................... HP:0009722 Dental enamel pits
........expandDentinogenesis imperfecta (HP:0000703) help
................... HP:0000694 Shell teeth
................... HP:0011060 Dentinogenesis imperfecta limited to primary teeth
................... HP:0011086 Dentinogenesis imperfecta of primary and permanent teeth
........expandAbnormality of the cementum (HP:0100717) help

 Sister Nodes: 
..expandAbnormal musculoskeletal physiology (HP:0011843) help
..expandAbnormal nasal skeleton morphology (HP:0010937) help
..expandAbnormal skeletal morphology (HP:0011842) help
..expandAbnormality of limb bone (HP:0040068) help
..expandEctopic calcification (HP:0010766) help
..expandobsolete Abnormality of the periosteum (HP:0040166) 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:3000050HP:3000050Abnormal odontoid tissue morphology0ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2530
HP:3000050HP:3000050Abnormal odontoid tissue morphology0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:3000050HP:3000050Abnormal odontoid tissue morphology0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndrome87
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:3000050HP:3000050Abnormal odontoid tissue morphology0AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:3000050HP:3000050Abnormal odontoid tissue morphology0AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE17
HP:3000050HP:3000050Abnormal odontoid tissue morphology0AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:3000050HP:3000050Abnormal odontoid tissue morphology0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:3000050HP:3000050Abnormal odontoid tissue morphology0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:3000050HP:3000050Abnormal odontoid tissue morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis11
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement42
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasis3
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CNNM4 CL E G H26504105ORPHA:1873Jalili syndrome61
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I373
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III373
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV373
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III243
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV243
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:3000050HP:3000050Abnormal odontoid tissue morphology0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:3000050HP:3000050Abnormal odontoid tissue morphology0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DSPP CL E G H18343054OMIM:605594Deafness, autosomal dominant 39, with dentinogenesis imperfecta 138
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DSPP CL E G H18343054OMIM:125420Dentin dysplasia, type II38
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DSPP CL E G H18343054OMIM:125490Dentinogenesis imperfecta 138
HP:3000050HP:3000050Abnormal odontoid tissue morphology0DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:3000050HP:3000050Abnormal odontoid tissue morphology0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:3000050HP:3000050Abnormal odontoid tissue morphology0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:3000050HP:3000050Abnormal odontoid tissue morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndrome3
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ENAM CL E G H101173344OMIM:104500Amelogenesis imperfecta, type IB50
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC50
HP:3000050HP:3000050Abnormal odontoid tissue morphology0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 133
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndrome16
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III22
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI61
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 146
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio)120
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC101
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM101
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome33
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:3000050HP:3000050Abnormal odontoid tissue morphology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:3000050HP:3000050Abnormal odontoid tissue morphology0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasis14
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasis196
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasis4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:3000050HP:3000050Abnormal odontoid tissue morphology0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia79
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia124
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:3000050HP:3000050Abnormal odontoid tissue morphology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:3000050HP:3000050Abnormal odontoid tissue morphology0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:3000050HP:3000050Abnormal odontoid tissue morphology0KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia16
HP:3000050HP:3000050Abnormal odontoid tissue morphology0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:3000050HP:3000050Abnormal odontoid tissue morphology0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:3000050HP:3000050Abnormal odontoid tissue morphology0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA167
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LONP1 CL E G H93619479ORPHA:1458CODAS syndrome8
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:3000050HP:3000050Abnormal odontoid tissue morphology0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature12
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:3000050HP:3000050Abnormal odontoid tissue morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia237
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1516
HP:3000050HP:3000050Abnormal odontoid tissue morphology0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2516
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndrome1952
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 81
HP:3000050HP:3000050Abnormal odontoid tissue morphology0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:3000050HP:3000050Abnormal odontoid tissue morphology0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:3000050HP:3000050Abnormal odontoid tissue morphology0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia46
HP:3000050HP:3000050Abnormal odontoid tissue morphology0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:3000050HP:3000050Abnormal odontoid tissue morphology0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:3000050HP:3000050Abnormal odontoid tissue morphology0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndrome2
HP:3000050HP:3000050Abnormal odontoid tissue morphology0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 12
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PAK2 CL E G H50628591OMIM:618458
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1352
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndrome113
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 240
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome169
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1169
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome98
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant217
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy759
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:3000050HP:3000050Abnormal odontoid tissue morphology0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:3000050HP:3000050Abnormal odontoid tissue morphology0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX39
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:3000050HP:3000050Abnormal odontoid tissue morphology0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndrome57
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome57
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:3000050HP:3000050Abnormal odontoid tissue morphology0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndrome5
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 25
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X52
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndrome73
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta73
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SLC24A4 CL E G H12304110978OMIM:615887Amelogenesis imperfecta, hypomaturation type, iia54
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SLC29A3 CL E G H5531523096ORPHA:1782Dysosteosclerosis68
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SP6 CL E G H8032014530OMIM:620104
HP:3000050HP:3000050Abnormal odontoid tissue morphology0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:3000050HP:3000050Abnormal odontoid tissue morphology0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:3000050HP:3000050Abnormal odontoid tissue morphology0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndrome52
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TCIRG1 CL E G H1031211647ORPHA:1782Dysosteosclerosis82
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TNFRSF11A CL E G H879211908ORPHA:1782Dysosteosclerosis72
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasis4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TRIP11 CL E G H932112305ORPHA:166272Odontochondrodysplasia133
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:3000050HP:3000050Abnormal odontoid tissue morphology0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:3000050HP:3000050Abnormal odontoid tissue morphology0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1173
HP:3000050HP:3000050Abnormal odontoid tissue morphology0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 178
HP:3000050HP:3000050Abnormal odontoid tissue morphology0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2777
HP:3000050HP:3000050Abnormal odontoid tissue morphology0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:3000050HP:3000050Abnormal odontoid tissue morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:3000050HP:3000050Abnormal odontoid tissue morphology0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:3000050HP:3000050Abnormal odontoid tissue morphology0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:3000050HP:3000050Abnormal odontoid tissue morphology0WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3137
HP:3000050HP:3000050Abnormal odontoid tissue morphology0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2155
HP:3000050HP:3000050Abnormal odontoid tissue morphology0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:3000050HP:3000050Abnormal odontoid tissue morphology0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:3000050HP:3000050Abnormal odontoid tissue morphology0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:3000050HP:0100717Abnormal cementum morphology1 CL E G H
HP:3000050HP:0000682Abnormal dental enamel morphology1ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:3000050HP:0000682Abnormal dental enamel morphology1ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional530
HP:3000050HP:0000682Abnormal dental enamel morphology1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:3000050HP:0000682Abnormal dental enamel morphology1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:3000050HP:0000682Abnormal dental enamel morphology1ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040283 - Occasional87
HP:3000050HP:0000682Abnormal dental enamel morphology1ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:3000050HP:0000682Abnormal dental enamel morphology1AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:3000050HP:0000682Abnormal dental enamel morphology1AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE17
HP:3000050HP:0000682Abnormal dental enamel morphology1AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:3000050HP:0000682Abnormal dental enamel morphology1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:3000050HP:0000682Abnormal dental enamel morphology1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:3000050HP:0000682Abnormal dental enamel morphology1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:3000050HP:0000682Abnormal dental enamel morphology1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:3000050HP:0000682Abnormal dental enamel morphology1ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040282 - Frequent168
HP:3000050HP:0000682Abnormal dental enamel morphology1ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:3000050HP:0000682Abnormal dental enamel morphology1ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040282 - Frequent1
HP:3000050HP:0000682Abnormal dental enamel morphology1AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:3000050HP:0000703Dentinogenesis imperfecta1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:3000050HP:0000682Abnormal dental enamel morphology1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:3000050HP:0000682Abnormal dental enamel morphology1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:3000050HP:0000682Abnormal dental enamel morphology1CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional636
HP:3000050HP:0000682Abnormal dental enamel morphology1CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040282 - Frequent20
HP:3000050HP:0000682Abnormal dental enamel morphology1CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040282 - Frequent161
HP:3000050HP:0000682Abnormal dental enamel morphology1CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040282 - Frequent146
HP:3000050HP:0000682Abnormal dental enamel morphology1CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional15
HP:3000050HP:0000682Abnormal dental enamel morphology1CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis11
HP:3000050HP:0000682Abnormal dental enamel morphology1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040283 - Occasional11
HP:3000050HP:0000682Abnormal dental enamel morphology1CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement42
HP:3000050HP:0000682Abnormal dental enamel morphology1CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional3
HP:3000050HP:0000682Abnormal dental enamel morphology1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:3000050HP:0000682Abnormal dental enamel morphology1CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:3000050HP:0000682Abnormal dental enamel morphology1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:3000050HP:0000682Abnormal dental enamel morphology1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:3000050HP:0000682Abnormal dental enamel morphology1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:3000050HP:0000682Abnormal dental enamel morphology1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:3000050HP:0000682Abnormal dental enamel morphology1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:3000050HP:0000682Abnormal dental enamel morphology1COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:3000050HP:0000682Abnormal dental enamel morphology1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:3000050HP:0000703Dentinogenesis imperfecta1COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type IHP:0040283 - Occasional373
HP:3000050HP:0000703Dentinogenesis imperfecta1COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:3000050HP:0000703Dentinogenesis imperfecta1COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV.373
HP:3000050HP:0000703Dentinogenesis imperfecta1COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:3000050HP:0000703Dentinogenesis imperfecta1COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV.243
HP:3000050HP:0000682Abnormal dental enamel morphology1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:3000050HP:0000682Abnormal dental enamel morphology1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:3000050HP:0000682Abnormal dental enamel morphology1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:3000050HP:0000682Abnormal dental enamel morphology1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:3000050HP:0000682Abnormal dental enamel morphology1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:3000050HP:0000682Abnormal dental enamel morphology1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:3000050HP:0000682Abnormal dental enamel morphology1CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:3000050HP:0000682Abnormal dental enamel morphology1CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:3000050HP:0000682Abnormal dental enamel morphology1CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:3000050HP:0000682Abnormal dental enamel morphology1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:3000050HP:0000682Abnormal dental enamel morphology1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:3000050HP:0000682Abnormal dental enamel morphology1DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:3000050HP:0000682Abnormal dental enamel morphology1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:3000050HP:0000682Abnormal dental enamel morphology1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:3000050HP:0000682Abnormal dental enamel morphology1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000703Dentinogenesis imperfecta1DSPP CL E G H18343054OMIM:605594Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1.38
HP:3000050HP:0000703Dentinogenesis imperfecta1DSPP CL E G H18343054OMIM:125420Dentin dysplasia, type II38
HP:3000050HP:0000703Dentinogenesis imperfecta1DSPP CL E G H18343054OMIM:125490Dentinogenesis imperfecta 1.38
HP:3000050HP:0000682Abnormal dental enamel morphology1DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:3000050HP:0000703Dentinogenesis imperfecta1DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:3000050HP:0000682Abnormal dental enamel morphology1EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:3000050HP:0000682Abnormal dental enamel morphology1EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:3000050HP:0000682Abnormal dental enamel morphology1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040283 - Occasional3
HP:3000050HP:0000682Abnormal dental enamel morphology1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:3000050HP:0000682Abnormal dental enamel morphology1ENAM CL E G H101173344OMIM:104500Amelogenesis imperfecta, type IB50
HP:3000050HP:0000682Abnormal dental enamel morphology1ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC50
HP:3000050HP:0000682Abnormal dental enamel morphology1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:3000050HP:0000682Abnormal dental enamel morphology1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:3000050HP:0000682Abnormal dental enamel morphology1ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional33
HP:3000050HP:0000682Abnormal dental enamel morphology1FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040281 - Very frequent16
HP:3000050HP:0000682Abnormal dental enamel morphology1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:3000050HP:0000682Abnormal dental enamel morphology1FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:3000050HP:0000682Abnormal dental enamel morphology1FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III22
HP:3000050HP:0000682Abnormal dental enamel morphology1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:3000050HP:0000682Abnormal dental enamel morphology1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:3000050HP:0000682Abnormal dental enamel morphology1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:3000050HP:0000682Abnormal dental enamel morphology1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:3000050HP:0000682Abnormal dental enamel morphology1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:3000050HP:0000682Abnormal dental enamel morphology1FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:3000050HP:0000682Abnormal dental enamel morphology1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:3000050HP:0000682Abnormal dental enamel morphology1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:3000050HP:0000682Abnormal dental enamel morphology1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:3000050HP:0000682Abnormal dental enamel morphology1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:3000050HP:0000703Dentinogenesis imperfecta1FKBP10 CL E G H6068118169OMIM:610968Osteogenesis imperfecta, type XI.61
HP:3000050HP:0000682Abnormal dental enamel morphology1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:3000050HP:0000682Abnormal dental enamel morphology1GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:3000050HP:0000682Abnormal dental enamel morphology1GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 146
HP:3000050HP:0000682Abnormal dental enamel morphology1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:3000050HP:0000682Abnormal dental enamel morphology1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:3000050HP:0000682Abnormal dental enamel morphology1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:3000050HP:0000682Abnormal dental enamel morphology1GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio)120
HP:3000050HP:0000682Abnormal dental enamel morphology1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:3000050HP:0000682Abnormal dental enamel morphology1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:3000050HP:0000682Abnormal dental enamel morphology1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:3000050HP:0000682Abnormal dental enamel morphology1GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:3000050HP:0000682Abnormal dental enamel morphology1GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC101
HP:3000050HP:0000682Abnormal dental enamel morphology1GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM101
HP:3000050HP:0000682Abnormal dental enamel morphology1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:3000050HP:0000682Abnormal dental enamel morphology1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:3000050HP:0000682Abnormal dental enamel morphology1GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:3000050HP:0000682Abnormal dental enamel morphology1GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome33
HP:3000050HP:0000682Abnormal dental enamel morphology1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:3000050HP:0000682Abnormal dental enamel morphology1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:3000050HP:0000682Abnormal dental enamel morphology1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:3000050HP:0000682Abnormal dental enamel morphology1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:3000050HP:0000682Abnormal dental enamel morphology1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:3000050HP:0000682Abnormal dental enamel morphology1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:3000050HP:0000682Abnormal dental enamel morphology1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:3000050HP:0000682Abnormal dental enamel morphology1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:3000050HP:0000682Abnormal dental enamel morphology1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:3000050HP:0000682Abnormal dental enamel morphology1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:3000050HP:0000682Abnormal dental enamel morphology1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:3000050HP:0000682Abnormal dental enamel morphology1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:3000050HP:0000682Abnormal dental enamel morphology1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:3000050HP:0000682Abnormal dental enamel morphology1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:3000050HP:0000682Abnormal dental enamel morphology1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:3000050HP:0000682Abnormal dental enamel morphology1IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional14
HP:3000050HP:0000682Abnormal dental enamel morphology1IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional196
HP:3000050HP:0000682Abnormal dental enamel morphology1IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:3000050HP:0000682Abnormal dental enamel morphology1IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:3000050HP:0000682Abnormal dental enamel morphology1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:3000050HP:0000682Abnormal dental enamel morphology1ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia79
HP:3000050HP:0000682Abnormal dental enamel morphology1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:3000050HP:0000682Abnormal dental enamel morphology1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:3000050HP:0000682Abnormal dental enamel morphology1ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia124
HP:3000050HP:0000682Abnormal dental enamel morphology1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:3000050HP:0000682Abnormal dental enamel morphology1ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:3000050HP:0000682Abnormal dental enamel morphology1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:3000050HP:0000682Abnormal dental enamel morphology1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:3000050HP:0000682Abnormal dental enamel morphology1KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1.6
HP:3000050HP:0000682Abnormal dental enamel morphology1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:3000050HP:0000682Abnormal dental enamel morphology1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndromeHP:0040281 - Very frequent110
HP:3000050HP:0000682Abnormal dental enamel morphology1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA167
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:3000050HP:0000682Abnormal dental enamel morphology1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:3000050HP:0000682Abnormal dental enamel morphology1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:3000050HP:0000682Abnormal dental enamel morphology1LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:3000050HP:0000682Abnormal dental enamel morphology1LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:3000050HP:0000682Abnormal dental enamel morphology1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:3000050HP:0000682Abnormal dental enamel morphology1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:3000050HP:0000682Abnormal dental enamel morphology1LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:3000050HP:0000682Abnormal dental enamel morphology1LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature12
HP:3000050HP:0000682Abnormal dental enamel morphology1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:3000050HP:0000682Abnormal dental enamel morphology1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:3000050HP:0000703Dentinogenesis imperfecta1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:3000050HP:0000682Abnormal dental enamel morphology1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:3000050HP:0000682Abnormal dental enamel morphology1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:3000050HP:0000682Abnormal dental enamel morphology1MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia2.37
HP:3000050HP:0000682Abnormal dental enamel morphology1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:3000050HP:0000682Abnormal dental enamel morphology1MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:3000050HP:0000682Abnormal dental enamel morphology1MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional516
HP:3000050HP:0000682Abnormal dental enamel morphology1MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional516
HP:3000050HP:0000682Abnormal dental enamel morphology1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:3000050HP:0000682Abnormal dental enamel morphology1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:3000050HP:0000682Abnormal dental enamel morphology1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:3000050HP:0000682Abnormal dental enamel morphology1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:3000050HP:0000682Abnormal dental enamel morphology1NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:3000050HP:0000682Abnormal dental enamel morphology1NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 81
HP:3000050HP:0000682Abnormal dental enamel morphology1NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:3000050HP:0000682Abnormal dental enamel morphology1OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:3000050HP:0000682Abnormal dental enamel morphology1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:3000050HP:0000682Abnormal dental enamel morphology1ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia46
HP:3000050HP:0000682Abnormal dental enamel morphology1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:3000050HP:0000682Abnormal dental enamel morphology1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:3000050HP:0000682Abnormal dental enamel morphology1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:3000050HP:0000682Abnormal dental enamel morphology1P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040282 - Frequent2
HP:3000050HP:0000703Dentinogenesis imperfecta1P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 12
HP:3000050HP:0000682Abnormal dental enamel morphology1PAK2 CL E G H50628591OMIM:618458
HP:3000050HP:0000682Abnormal dental enamel morphology1PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:3000050HP:0000682Abnormal dental enamel morphology1PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional352
HP:3000050HP:0000682Abnormal dental enamel morphology1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:3000050HP:0000682Abnormal dental enamel morphology1PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040282 - Frequent531
HP:3000050HP:0000682Abnormal dental enamel morphology1PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:3000050HP:0000682Abnormal dental enamel morphology1PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional40
HP:3000050HP:0000682Abnormal dental enamel morphology1PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:3000050HP:0000682Abnormal dental enamel morphology1PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1169
HP:3000050HP:0000682Abnormal dental enamel morphology1PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:3000050HP:0000682Abnormal dental enamel morphology1PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:3000050HP:0000682Abnormal dental enamel morphology1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:3000050HP:0000682Abnormal dental enamel morphology1PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant217
HP:3000050HP:0000703Dentinogenesis imperfecta1PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:3000050HP:0000682Abnormal dental enamel morphology1PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndrome
HP:3000050HP:0000682Abnormal dental enamel morphology1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:3000050HP:0000682Abnormal dental enamel morphology1PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040282 - Frequent759
HP:3000050HP:0000682Abnormal dental enamel morphology1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:3000050HP:0000682Abnormal dental enamel morphology1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:3000050HP:0000682Abnormal dental enamel morphology1PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040282 - Frequent11
HP:3000050HP:0000682Abnormal dental enamel morphology1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:3000050HP:0000682Abnormal dental enamel morphology1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:3000050HP:0000682Abnormal dental enamel morphology1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:3000050HP:0000682Abnormal dental enamel morphology1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:3000050HP:0000682Abnormal dental enamel morphology1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:3000050HP:0000703Dentinogenesis imperfecta1PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX.39
HP:3000050HP:0000682Abnormal dental enamel morphology1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:3000050HP:0000682Abnormal dental enamel morphology1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:3000050HP:0000682Abnormal dental enamel morphology1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:3000050HP:0000682Abnormal dental enamel morphology1RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040282 - Frequent68
HP:3000050HP:0000682Abnormal dental enamel morphology1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:3000050HP:0000682Abnormal dental enamel morphology1RELT CL E G H8495713764OMIM:618386Amelogenesis imperfecta, type IIIC
HP:3000050HP:0000682Abnormal dental enamel morphology1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:3000050HP:0000682Abnormal dental enamel morphology1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:3000050HP:0000682Abnormal dental enamel morphology1ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:3000050HP:0000682Abnormal dental enamel morphology1ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome57
HP:3000050HP:0000682Abnormal dental enamel morphology1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:3000050HP:0000682Abnormal dental enamel morphology1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:3000050HP:0000682Abnormal dental enamel morphology1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:3000050HP:0000682Abnormal dental enamel morphology1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:3000050HP:0000682Abnormal dental enamel morphology1SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:3000050HP:0000682Abnormal dental enamel morphology1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:3000050HP:0000682Abnormal dental enamel morphology1SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040282 - Frequent5
HP:3000050HP:0000703Dentinogenesis imperfecta1SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:3000050HP:0000703Dentinogenesis imperfecta1SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:3000050HP:0000682Abnormal dental enamel morphology1SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:3000050HP:0000682Abnormal dental enamel morphology1SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:3000050HP:0000682Abnormal dental enamel morphology1SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta73
HP:3000050HP:0000682Abnormal dental enamel morphology1SLC24A4 CL E G H12304110978OMIM:615887Amelogenesis imperfecta, hypomaturation type, iia54
HP:3000050HP:0000682Abnormal dental enamel morphology1SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:3000050HP:0000682Abnormal dental enamel morphology1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:3000050HP:0000682Abnormal dental enamel morphology1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:3000050HP:0000682Abnormal dental enamel morphology1SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:3000050HP:0000682Abnormal dental enamel morphology1SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:3000050HP:0000682Abnormal dental enamel morphology1SP6 CL E G H8032014530OMIM:620104
HP:3000050HP:0000682Abnormal dental enamel morphology1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:3000050HP:0000682Abnormal dental enamel morphology1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:3000050HP:0000682Abnormal dental enamel morphology1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:3000050HP:0000682Abnormal dental enamel morphology1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:3000050HP:0000682Abnormal dental enamel morphology1TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040282 - Frequent52
HP:3000050HP:0000682Abnormal dental enamel morphology1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:3000050HP:0000682Abnormal dental enamel morphology1TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:3000050HP:0000682Abnormal dental enamel morphology1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:3000050HP:0000682Abnormal dental enamel morphology1TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:3000050HP:0000682Abnormal dental enamel morphology1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:3000050HP:0000682Abnormal dental enamel morphology1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:3000050HP:0000682Abnormal dental enamel morphology1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:3000050HP:0000682Abnormal dental enamel morphology1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:3000050HP:0000682Abnormal dental enamel morphology1TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:3000050HP:0000682Abnormal dental enamel morphology1TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040282 - Frequent2
HP:3000050HP:0000682Abnormal dental enamel morphology1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:3000050HP:0000703Dentinogenesis imperfecta1TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040281 - Very frequent133
HP:3000050HP:0000703Dentinogenesis imperfecta1TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:3000050HP:0000682Abnormal dental enamel morphology1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:3000050HP:0000682Abnormal dental enamel morphology1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:3000050HP:0000682Abnormal dental enamel morphology1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:3000050HP:0000682Abnormal dental enamel morphology1USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional173
HP:3000050HP:0000682Abnormal dental enamel morphology1USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional78
HP:3000050HP:0000682Abnormal dental enamel morphology1USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional777
HP:3000050HP:0000682Abnormal dental enamel morphology1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:3000050HP:0000682Abnormal dental enamel morphology1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:3000050HP:0000682Abnormal dental enamel morphology1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:3000050HP:0000682Abnormal dental enamel morphology1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:3000050HP:0000682Abnormal dental enamel morphology1WDR72 CL E G H25676426790OMIM:613211Amelogenesis imperfecta, hypomaturation type, iia3137
HP:3000050HP:0000682Abnormal dental enamel morphology1WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional155
HP:3000050HP:0000682Abnormal dental enamel morphology1WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:3000050HP:0000682Abnormal dental enamel morphology1WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:3000050HP:0000703Dentinogenesis imperfecta1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:3000050HP:0033788Cementum overgrowth2 CL E G H
HP:3000050HP:0033787Cementum hypoplasia2 CL E G H
HP:3000050HP:0033786Hypomature enamel2 CL E G H
HP:3000050HP:0033776Enamel pearls2 CL E G H
HP:3000050HP:0011086Dentinogenesis imperfecta of primary and permanent teeth2 CL E G H
HP:3000050HP:0000705Amelogenesis imperfecta2ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:3000050HP:0006297Enamel hypoplasia2ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:3000050HP:0006297Enamel hypoplasia2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:3000050HP:0006297Enamel hypoplasia2ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:3000050HP:0000705Amelogenesis imperfecta2AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:3000050HP:0006297Enamel hypoplasia2AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:3000050HP:0009722Dental enamel pits2AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:3000050HP:0006297Enamel hypoplasia2AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE.17
HP:3000050HP:0000705Amelogenesis imperfecta2AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE.17
HP:3000050HP:0006285Enamel hypomineralization2AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:3000050HP:0000705Amelogenesis imperfecta2AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:3000050HP:0006297Enamel hypoplasia2ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial.168
HP:3000050HP:0006297Enamel hypoplasia2ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:3000050HP:0006297Enamel hypoplasia2AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:3000050HP:0006297Enamel hypoplasia2CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:3000050HP:0006297Enamel hypoplasia2CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:3000050HP:0000705Amelogenesis imperfecta2CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvementHP:0040284 - Very rare42
HP:3000050HP:0000705Amelogenesis imperfecta2CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:3000050HP:0033785Enamel agenesis2CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:3000050HP:0006297Enamel hypoplasia2COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:3000050HP:0006297Enamel hypoplasia2COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:3000050HP:0006297Enamel hypoplasia2COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:3000050HP:0009722Dental enamel pits2COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:3000050HP:0006297Enamel hypoplasia2COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:3000050HP:0006297Enamel hypoplasia2COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:3000050HP:0006297Enamel hypoplasia2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:3000050HP:0009722Dental enamel pits2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:3000050HP:0006297Enamel hypoplasia2COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:3000050HP:0006297Enamel hypoplasia2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:3000050HP:0006297Enamel hypoplasia2CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:3000050HP:0006297Enamel hypoplasia2CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:3000050HP:0006297Enamel hypoplasia2CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:3000050HP:0006297Enamel hypoplasia2CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:3000050HP:0006297Enamel hypoplasia2DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:3000050HP:0000705Amelogenesis imperfecta2DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:3000050HP:0006297Enamel hypoplasia2DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:3000050HP:0009722Dental enamel pits2DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:3000050HP:0006285Enamel hypomineralization2DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48
HP:3000050HP:0000705Amelogenesis imperfecta2DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:3000050HP:0006297Enamel hypoplasia2DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:3000050HP:0011060Dentinogenesis imperfecta limited to primary teeth2DSPP CL E G H18343054OMIM:125420Dentin dysplasia, type II.38
HP:3000050HP:0000694Odontodysplasia2DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III.38
HP:3000050HP:0009722Dental enamel pits2DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III38
HP:3000050HP:0006297Enamel hypoplasia2EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:3000050HP:0006297Enamel hypoplasia2EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:3000050HP:0000705Amelogenesis imperfecta2ENAM CL E G H101173344OMIM:104500Amelogenesis imperfecta, type IB.50
HP:3000050HP:0000705Amelogenesis imperfecta2ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:3000050HP:0006285Enamel hypomineralization2ENAM CL E G H101173344OMIM:204650Amelogenesis imperfecta, type IC.50
HP:3000050HP:0006297Enamel hypoplasia2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:3000050HP:0006297Enamel hypoplasia2ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:3000050HP:0006297Enamel hypoplasia2ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:3000050HP:0006297Enamel hypoplasia2ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:3000050HP:0006297Enamel hypoplasia2ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:3000050HP:0006297Enamel hypoplasia2ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:3000050HP:0006297Enamel hypoplasia2ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:3000050HP:0006297Enamel hypoplasia2ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:3000050HP:0006297Enamel hypoplasia2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:3000050HP:0006297Enamel hypoplasia2ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:3000050HP:0006297Enamel hypoplasia2ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:3000050HP:0006297Enamel hypoplasia2ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:3000050HP:0006297Enamel hypoplasia2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:3000050HP:0000705Amelogenesis imperfecta2FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040281 - Very frequent16
HP:3000050HP:0000705Amelogenesis imperfecta2FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:3000050HP:0006297Enamel hypoplasia2FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:3000050HP:0000705Amelogenesis imperfecta2FAM83H CL E G H28607724797OMIM:130900Amelogenesis imperfecta, type III.22
HP:3000050HP:0006297Enamel hypoplasia2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:3000050HP:0006297Enamel hypoplasia2FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:3000050HP:0006297Enamel hypoplasia2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:3000050HP:0006297Enamel hypoplasia2FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:3000050HP:0006297Enamel hypoplasia2FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:3000050HP:0006297Enamel hypoplasia2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:3000050HP:0006297Enamel hypoplasia2FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:3000050HP:0006297Enamel hypoplasia2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:3000050HP:0006297Enamel hypoplasia2FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:3000050HP:0000683Grayish enamel2GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:3000050HP:0006297Enamel hypoplasia2GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:3000050HP:0006297Enamel hypoplasia2GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:3000050HP:0000683Grayish enamel2GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:3000050HP:0006297Enamel hypoplasia2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:3000050HP:0006297Enamel hypoplasia2GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:3000050HP:0006297Enamel hypoplasia2GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:3000050HP:0006297Enamel hypoplasia2GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:3000050HP:0006297Enamel hypoplasia2GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:3000050HP:0006297Enamel hypoplasia2GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:3000050HP:0006297Enamel hypoplasia2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:3000050HP:0006285Enamel hypomineralization2GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:3000050HP:0000705Amelogenesis imperfecta2GPR68 CL E G H81114519OMIM:617217AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A63
HP:3000050HP:0006297Enamel hypoplasia2GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:3000050HP:0006297Enamel hypoplasia2GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:3000050HP:0006297Enamel hypoplasia2GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:3000050HP:0006297Enamel hypoplasia2HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:3000050HP:0006297Enamel hypoplasia2HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:3000050HP:0006297Enamel hypoplasia2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:3000050HP:0006297Enamel hypoplasia2IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:3000050HP:0006297Enamel hypoplasia2IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:3000050HP:0006297Enamel hypoplasia2ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent79
HP:3000050HP:0006297Enamel hypoplasia2ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:3000050HP:0006297Enamel hypoplasia2ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:3000050HP:0006297Enamel hypoplasia2ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent124
HP:3000050HP:0009722Dental enamel pits2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:3000050HP:0006297Enamel hypoplasia2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:3000050HP:0000705Amelogenesis imperfecta2ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:3000050HP:0009722Dental enamel pits2ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:3000050HP:0006297Enamel hypoplasia2ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:3000050HP:0006297Enamel hypoplasia2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:3000050HP:0000705Amelogenesis imperfecta2KLK4 CL E G H96226365OMIM:204700Amelogenesis imperfecta, hypomaturation type, iia1.6
HP:3000050HP:0006297Enamel hypoplasia2KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:3000050HP:0006297Enamel hypoplasia2KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:3000050HP:0006297Enamel hypoplasia2KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:3000050HP:0006297Enamel hypoplasia2LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:3000050HP:0006297Enamel hypoplasia2LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:3000050HP:0006297Enamel hypoplasia2LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:3000050HP:0000705Amelogenesis imperfecta2LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome.116
HP:3000050HP:0006297Enamel hypoplasia2LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:3000050HP:0000705Amelogenesis imperfecta2LAMB3 CL E G H39146490OMIM:104530Amelogenesis imperfecta, type IA.167
HP:3000050HP:0006297Enamel hypoplasia2LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:3000050HP:0006297Enamel hypoplasia2LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:3000050HP:0006297Enamel hypoplasia2LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:3000050HP:0006297Enamel hypoplasia2LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:3000050HP:0006297Enamel hypoplasia2LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:3000050HP:0006297Enamel hypoplasia2LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:3000050HP:0006297Enamel hypoplasia2LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:3000050HP:0006297Enamel hypoplasia2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:3000050HP:0006297Enamel hypoplasia2LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:3000050HP:0006297Enamel hypoplasia2LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:3000050HP:0006297Enamel hypoplasia2LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:3000050HP:0000705Amelogenesis imperfecta2LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature.12
HP:3000050HP:0006297Enamel hypoplasia2MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:3000050HP:0000705Amelogenesis imperfecta2MMP20 CL E G H93137167OMIM:612529Amelogenesis imperfecta, hypomaturation type, iia2.37
HP:3000050HP:0006297Enamel hypoplasia2MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:3000050HP:0006297Enamel hypoplasia2MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:3000050HP:0006297Enamel hypoplasia2NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:3000050HP:0006297Enamel hypoplasia2NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:3000050HP:0006297Enamel hypoplasia2NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:3000050HP:0006297Enamel hypoplasia2OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:3000050HP:0006297Enamel hypoplasia2ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:3000050HP:0000705Amelogenesis imperfecta2ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:3000050HP:0006285Enamel hypomineralization2ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:3000050HP:0006297Enamel hypoplasia2OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:3000050HP:0000705Amelogenesis imperfecta2ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19