Human Phenotype Ontology 
Grandparent Node:
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Abnormality of dental structure (HP:0011061)help
Parent Node:
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Abnormal dental enamel morphology (HP:0000682)help
Parent Node:
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Hypoplasia of teeth (HP:0000685)help
..Starting node
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Enamel hypoplasia (HP:0006297)help
Term ID: 6297
Name: Enamel hypoplasia
Synonym: Defective enamel matrix; Dental enamel hypoplasia; Dysplasia of tooth enamel; Enamel dysplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Thin dental enamel; Thin tooth enamel; Underdeveloped teeth enamel
Definition: Developmental hypoplasia of the dental enamel.
Comments:
Reference: HP:0006297
Genes and Diseases:
 
       Child Nodes:
........expandGeneralized hypoplasia of dental enamel (HP:0006282) help
........expandLocalized hypoplasia of dental enamel (HP:0011074) help

 Sister Nodes: 
..expandHypoplasia of the primary teeth (HP:0006334) help
..expandHypoplasia of the tooth germ (HP:0006353) 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:0006297HP:0006297Enamel hypoplasia0ACP4 CL E G H9365014376OMIM:617297AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J7
HP:0006297HP:0006297Enamel hypoplasia0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0006297HP:0006297Enamel hypoplasia0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0006297HP:0006297Enamel hypoplasia0AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0006297HP:0006297Enamel hypoplasia0AMELX CL E G H265461OMIM:301200Amelogenesis imperfecta, type IE.17
HP:0006297HP:0006297Enamel hypoplasia0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial.168
HP:0006297HP:0006297Enamel hypoplasia0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0006297HP:0006297Enamel hypoplasia0AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0006297HP:0006297Enamel hypoplasia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0006297HP:0006297Enamel hypoplasia0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0006297HP:0006297Enamel hypoplasia0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0006297HP:0006297Enamel hypoplasia0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0006297HP:0006297Enamel hypoplasia0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0006297HP:0006297Enamel hypoplasia0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0006297HP:0006297Enamel hypoplasia0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0006297HP:0006297Enamel hypoplasia0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0006297HP:0006297Enamel hypoplasia0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0006297HP:0006297Enamel hypoplasia0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0006297HP:0006297Enamel hypoplasia0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0006297HP:0006297Enamel hypoplasia0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:0006297HP:0006297Enamel hypoplasia0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0006297HP:0006297Enamel hypoplasia0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:0006297HP:0006297Enamel hypoplasia0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0006297HP:0006297Enamel hypoplasia0DLX3 CL E G H17472916OMIM:104510AMELOGENESIS IMPERFECTA, TYPE IV; AI448
HP:0006297HP:0006297Enamel hypoplasia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0006297HP:0006297Enamel hypoplasia0EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0006297HP:0006297Enamel hypoplasia0EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0006297HP:0006297Enamel hypoplasia0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0006297HP:0006297Enamel hypoplasia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0006297HP:0006297Enamel hypoplasia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0006297HP:0006297Enamel hypoplasia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0006297HP:0006297Enamel hypoplasia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0006297HP:0006297Enamel hypoplasia0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0006297HP:0006297Enamel hypoplasia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0006297HP:0006297Enamel hypoplasia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0006297HP:0006297Enamel hypoplasia0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0006297HP:0006297Enamel hypoplasia0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0006297HP:0006297Enamel hypoplasia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0006297HP:0006297Enamel hypoplasia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0006297HP:0006297Enamel hypoplasia0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0006297HP:0006297Enamel hypoplasia0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0006297HP:0006297Enamel hypoplasia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0006297HP:0006297Enamel hypoplasia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0006297HP:0006297Enamel hypoplasia0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0006297HP:0006297Enamel hypoplasia0FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0006297HP:0006297Enamel hypoplasia0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0006297HP:0006297Enamel hypoplasia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0006297HP:0006297Enamel hypoplasia0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0006297HP:0006297Enamel hypoplasia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0006297HP:0006297Enamel hypoplasia0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0006297HP:0006297Enamel hypoplasia0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0006297HP:0006297Enamel hypoplasia0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0006297HP:0006297Enamel hypoplasia0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0006297HP:0006297Enamel hypoplasia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:0006297HP:0006297Enamel hypoplasia0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0006297HP:0006297Enamel hypoplasia0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0006297HP:0006297Enamel hypoplasia0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0006297HP:0006297Enamel hypoplasia0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0006297HP:0006297Enamel hypoplasia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006297HP:0006297Enamel hypoplasia0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0006297HP:0006297Enamel hypoplasia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0006297HP:0006297Enamel hypoplasia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0006297HP:0006297Enamel hypoplasia0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0006297HP:0006297Enamel hypoplasia0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0006297HP:0006297Enamel hypoplasia0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0006297HP:0006297Enamel hypoplasia0IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0006297HP:0006297Enamel hypoplasia0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0006297HP:0006297Enamel hypoplasia0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent79
HP:0006297HP:0006297Enamel hypoplasia0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0006297HP:0006297Enamel hypoplasia0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0006297HP:0006297Enamel hypoplasia0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent124
HP:0006297HP:0006297Enamel hypoplasia0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0006297HP:0006297Enamel hypoplasia0ITGB6 CL E G H36946161OMIM:616221AMELOGENESIS IMPERFECTA, TYPE IH; AI1H8
HP:0006297HP:0006297Enamel hypoplasia0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0006297HP:0006297Enamel hypoplasia0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0006297HP:0006297Enamel hypoplasia0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0006297HP:0006297Enamel hypoplasia0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0006297HP:0006297Enamel hypoplasia0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0006297HP:0006297Enamel hypoplasia0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0006297HP:0006297Enamel hypoplasia0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:0006297HP:0006297Enamel hypoplasia0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0006297HP:0006297Enamel hypoplasia0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0006297HP:0006297Enamel hypoplasia0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0006297HP:0006297Enamel hypoplasia0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0006297HP:0006297Enamel hypoplasia0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0006297HP:0006297Enamel hypoplasia0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0006297HP:0006297Enamel hypoplasia0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0006297HP:0006297Enamel hypoplasia0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0006297HP:0006297Enamel hypoplasia0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0006297HP:0006297Enamel hypoplasia0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0006297HP:0006297Enamel hypoplasia0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0006297HP:0006297Enamel hypoplasia0LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0006297HP:0006297Enamel hypoplasia0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0006297HP:0006297Enamel hypoplasia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0006297HP:0006297Enamel hypoplasia0MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0006297HP:0006297Enamel hypoplasia0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0006297HP:0006297Enamel hypoplasia0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:0006297HP:0006297Enamel hypoplasia0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0006297HP:0006297Enamel hypoplasia0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0006297HP:0006297Enamel hypoplasia0ODAPH CL E G H15281626300OMIM:614832Amelogenesis imperfecta, hypomaturation type, iia4.6
HP:0006297HP:0006297Enamel hypoplasia0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0006297HP:0006297Enamel hypoplasia0PAK2 CL E G H50628591OMIM:618458
HP:0006297HP:0006297Enamel hypoplasia0PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0006297HP:0006297Enamel hypoplasia0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0006297HP:0006297Enamel hypoplasia0PEX1 CL E G H51898850OMIM:234580Heimler syndrome 1.169
HP:0006297HP:0006297Enamel hypoplasia0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0006297HP:0006297Enamel hypoplasia0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0006297HP:0006297Enamel hypoplasia0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0006297HP:0006297Enamel hypoplasia0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0006297HP:0006297Enamel hypoplasia0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0006297HP:0006297Enamel hypoplasia0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0006297HP:0006297Enamel hypoplasia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0006297HP:0006297Enamel hypoplasia0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0006297HP:0006297Enamel hypoplasia0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0006297HP:0006297Enamel hypoplasia0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0006297HP:0006297Enamel hypoplasia0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0006297HP:0006297Enamel hypoplasia0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0006297HP:0006297Enamel hypoplasia0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0006297HP:0006297Enamel hypoplasia0SMOC2 CL E G H6409420323OMIM:125400Dentin dysplasia, type I, with microdontia and misshapen teeth4
HP:0006297HP:0006297Enamel hypoplasia0SP6 CL E G H8032014530OMIM:620104
HP:0006297HP:0006297Enamel hypoplasia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent86
HP:0006297HP:0006297Enamel hypoplasia0SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0006297HP:0006297Enamel hypoplasia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0006297HP:0006297Enamel hypoplasia0TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0006297HP:0006297Enamel hypoplasia0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0006297HP:0006297Enamel hypoplasia0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0006297HP:0006297Enamel hypoplasia0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndromeHP:0040284 - Very rare26
HP:0006297HP:0006297Enamel hypoplasia0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0006297HP:0006297Enamel hypoplasia0WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0006297HP:0006297Enamel hypoplasia0WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4
HP:0006297HP:0011074Localized hypoplasia of dental enamel1 CL E G H
HP:0006297HP:0006282Generalized hypoplasia of dental enamel1 CL E G H


Genes (97) :ACP4 AIRE ALDH3A2 AMBN AMELX ATR AXIN2 CARS1 CLDN1 COG6 COL17A1 COL7A1 CREBBP CTSK CYP27B1 CYP2R1 DDX59 DLX3 DNAJC21 EDA EDARADD EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 FAM20C FBXO28 FGF10 FGFR1 FGFR2 FGFR3 FLNB GALNT3 GJA1 GNAS GNB2 GRHL2 GTF2E2 GTF2H5 HLA-DQA1 HLA-DQB1 IFT122 IRF6 IRX5 ITGA6 ITGB4 ITGB6 KCNJ2 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMX1B LONP1 LRP4 LRP6 MMP1 MPLKIP MSX1 NECTIN4 NF1 NUP133 OCRL ODAPH OFD1 PAK2 PAX9 PCNT PEX1 PGAP1 PIK3C2A PLEC PORCN RHOA RNF113A ROGDI RUNX2 SATB1 SCUBE3 SLC35A2 SMARCA2 SMOC2 SP6 STX16 SUMO1 TARS1 TGFA TP63 TRIM37 TTC7A VDR WNT10A WNT10B

Diseases (86) :OMIM:617297 OMIM:240300 OMIM:270200 OMIM:616270 OMIM:301200 OMIM:614564 OMIM:210600 ORPHA:99798 ORPHA:33364 OMIM:607626 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:79402 ORPHA:79406 ORPHA:251393 OMIM:226600 OMIM:180849 ORPHA:763 ORPHA:289157 OMIM:264700 ORPHA:2919 OMIM:104510 OMIM:617052 ORPHA:90322 ORPHA:90321 OMIM:610965 ORPHA:90324 OMIM:216400 OMIM:259775 OMIM:619777 ORPHA:2363 OMIM:149730 OMIM:272460 OMIM:211900 OMIM:164200 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:616029 OMIM:212750 OMIM:218330 OMIM:611174 ORPHA:79403 OMIM:226730 OMIM:616221 OMIM:170390 ORPHA:79396 ORPHA:69087 OMIM:226700 OMIM:245660 ORPHA:79404 OMIM:226650 ORPHA:2614 OMIM:600373 OMIM:212780 OMIM:613573 ORPHA:139474 OMIM:618349 OMIM:309000 OMIM:614832 OMIM:311200 OMIM:618458 OMIM:210720 OMIM:234580 OMIM:615802 ORPHA:557003 OMIM:226670 OMIM:305600 OMIM:618727 OMIM:226750 OMIM:119600 OMIM:619229 OMIM:619184 OMIM:300896 OMIM:619293 OMIM:125400 OMIM:620104 OMIM:129400 OMIM:253250 OMIM:243150 OMIM:277440
 

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