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:0002231 | HP:0002231 | Sparse body hair | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | . | | | 1 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 63 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 124 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 1 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | . | | | 5 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 1 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 5 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | HP:0040283 - Occasional | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | | | | 12 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 12 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 12 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 8 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 8 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | . | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0002231 | HP:0002231 | Sparse body hair | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |