Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001596 | HP:0001596 | Alopecia | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 130 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040282 - Frequent | | | 49 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | AHSG CL E G H | 197 | 349 | OMIM:203650 | Alopecia-Mental retardation syndrome 1 | | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040283 - Occasional | | | 92 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 75 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | HP:0040283 - Occasional | | | 75 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 63 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | HP:0040283 - Occasional | | | 132 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | | | | 192 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | . | | | 168 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BCS1L CL E G H | 617 | 1020 | ORPHA:123 | Björnstad syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:262000 | Bjornstad syndrome | . | | | 72 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040283 - Occasional | | | 109 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 272 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040282 - Frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | | | | 11 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 129 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CSTB CL E G H | 1476 | 2482 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 51 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040282 - Frequent | | | 10 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 112 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | | | | 55 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 63 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | | | | 63 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 747 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | | | | 14 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 86 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 56 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EPS8L3 CL E G H | 79574 | 21297 | ORPHA:444 | Marie Unna hereditary hypotrichosis | HP:0040281 - Very frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | . | | | 6 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 172 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | HP:0040284 - Very rare | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | HP:0003577 - Congenital onset | | 54 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FTL CL E G H | 2512 | 3999 | OMIM:615604 | L-ferritin deficiency, dominant and recessive | . | | | 33 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 68 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040283 - Occasional | | | 199 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040282 - Frequent | | | 199 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 74 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 12 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 16 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | H6PD CL E G H | 9563 | 4795 | OMIM:604931 | Cortisone reductase deficiency 1 | | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | . | | | 38 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040283 - Occasional | | | 148 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | | | | 106 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | . | | | 106 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HR CL E G H | 55806 | 5172 | ORPHA:444 | Marie Unna hereditary hypotrichosis | HP:0040281 - Very frequent | | | 106 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040282 - Frequent | | | 52 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040284 - Very rare | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 124 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 124 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 222 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 4 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 196 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | | | | 110 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040283 - Occasional | | | 110 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 27 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 23 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040283 - Occasional | | | 173 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 41 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 4 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | . | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | | | | 65 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | . | | | 65 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | . | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | . | | | 10 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | | | | 10 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | | | | 167 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 12 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:176670 | Hutchinson-Gilford progeria syndrome | . | | | 645 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | | | | 645 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | | | | 22 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 60 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PADI3 CL E G H | 51702 | 18337 | ORPHA:1410 | Uncombable hair syndrome | | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040281 - Very frequent | | | 759 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 759 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 47 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | | | | 69 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | . | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLC30A2 CL E G H | 7780 | 11013 | OMIM:608118 | Zinc deficiency, transient neonatal | | | | 3 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040281 - Very frequent | | | 55 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | | | | 55 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | . | | | 58 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | . | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040284 - Very rare | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040284 - Very rare | | | 2 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 98 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | HP:0040283 - Occasional | | | 98 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TGM3 CL E G H | 7053 | 11779 | ORPHA:1410 | Uncombable hair syndrome | | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040282 - Frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | 151 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | | | | 151 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | . | | | 31 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040282 - Frequent | | | 104 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 71 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040282 - Frequent | | | 83 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | HP:0040284 - Very rare | | | 1 | | |
HP:0001596 | HP:0001596 | Alopecia | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | AHSG CL E G H | 197 | 349 | OMIM:203650 | Alopecia-Mental retardation syndrome 1 | . | | | 5 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | | | | 11 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 129 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 129 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 63 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 747 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040282 - Frequent | | | 14 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | . | | | 14 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | | | | 54 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | HP:0040281 - Very frequent | | | 106 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | HP:0040281 - Very frequent | | | 106 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | . | | | 106 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 124 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 124 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 124 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 222 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | HP:0040281 - Very frequent | | | 81 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 3 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 65 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 10 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | | | | 167 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | PADI3 CL E G H | 51702 | 18337 | ORPHA:1410 | Uncombable hair syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040283 - Occasional | | | 11 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 759 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | | | | 2 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | TGM3 CL E G H | 7053 | 11779 | ORPHA:1410 | Uncombable hair syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0001596 | HP:0002287 | Progressive alopecia | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | HP:0040283 - Occasional | | | 151 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040283 - Occasional | | | 26 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0001596 | HP:0002289 | Alopecia universalis | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0001596 | HP:0002293 | Alopecia of scalp | 1 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0001596 | HP:0002232 | Patchy alopecia | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0001596 | HP:0007418 | Alopecia totalis | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0001596 | HP:0004529 | Atrophic, patchy alopecia | 2 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0001596 | HP:0005597 | Congenital alopecia totalis | 2 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | HP:0040281 - Very frequent | | | 51 | | |
HP:0001596 | HP:0005597 | Congenital alopecia totalis | 2 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001596 | HP:0004529 | Atrophic, patchy alopecia | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 124 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 124 | | |
HP:0001596 | HP:0004529 | Atrophic, patchy alopecia | 2 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0001596 | HP:0005597 | Congenital alopecia totalis | 2 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 759 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0001596 | HP:0004552 | Scarring alopecia of scalp | 2 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |