Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | AMBN CL E G H | 258 | 452 | OMIM:616270 | AMELOGENESIS IMPERFECTA, TYPE IF; AI1F | | | | 2 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | . | | | 17 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | . | | | 168 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 435 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | . | | | 71 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 291 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 41 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 5 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 115 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 56 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 250 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 172 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 101 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 99 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040282 - Frequent | | | 79 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040282 - Frequent | | | 124 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | | | | 116 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | | | | 167 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 26 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 12 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ODAPH CL E G H | 152816 | 26300 | OMIM:614832 | Amelogenesis imperfecta, hypomaturation type, iia4 | . | | | 6 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 58 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | . | | | 169 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SP6 CL E G H | 80320 | 14530 | OMIM:620104 | | | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 86 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 8 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 71 | | |
HP:0006297 | HP:0006297 | Enamel hypoplasia | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040283 - Occasional | | | 4 | | |
HP:0006297 | HP:0006282 | Generalized hypoplasia of dental enamel | 1 | CL E G H | | | | | | | | | | |
HP:0006297 | HP:0011074 | Localized hypoplasia of dental enamel | 1 | CL E G H | | | | | | | | | | |