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:0000653 | HP:0000653 | Sparse eyelashes | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040283 - Occasional | | | 215 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | . | | | 55 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | . | | | 63 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 63 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 56 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | . | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | KRT71 CL E G H | 112802 | 28927 | OMIM:615896 | Hypotrichosis 13 | | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | . | | | 12 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 12 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 8 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | | | | 140 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TSR2 CL E G H | 90121 | 25455 | OMIM:300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | | | | 7 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000653 | HP:0000653 | Sparse eyelashes | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0000653 | HP:0040050 | Sparse upper eyelashes | 1 | CL E G H | | | | | | | | | | |
HP:0000653 | HP:0007776 | Sparse lower eyelashes | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000653 | HP:0007776 | Sparse lower eyelashes | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0000653 | HP:0007776 | Sparse lower eyelashes | 1 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | . | | | 140 | | |
HP:0000653 | HP:0007776 | Sparse lower eyelashes | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | HP:0040282 - Frequent | | | 7 | | |