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:0002298 | HP:0002298 | Absent hair | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | | | | 5 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | | | | 39 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | | | | 125 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | | | | 125 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | | | | 87 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | . | | | 56 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | | | | | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | HOXC13 CL E G H | 3229 | 5125 | OMIM:614931 | Ectodermal dysplasia 9, Hair/nail type | | | | 3 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | | | | 106 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | | | | 2 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | | | | 645 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | LRP1 CL E G H | 4035 | 6692 | OMIM:604093 | Keratosis pilaris atrophicans | | | | 4 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | | | | 2 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | | | | 22 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:612964 | PREMATURE OVARIAN FAILURE 7; POF7 | | | | 38 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | | | | 2 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | | | | 13 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | | | | 41 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0002298 | HP:0002298 | Absent hair | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 747 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | HOXC13 CL E G H | 3229 | 5125 | OMIM:614931 | Ectodermal dysplasia 9, Hair/nail type | | | | 3 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | | | | 106 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | HP:0040281 - Very frequent | | | 106 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 222 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | | | | 2 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | . | | | 2 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | | | | 645 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | LRP1 CL E G H | 4035 | 6692 | OMIM:604093 | Keratosis pilaris atrophicans | | | | 4 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | | | | 2 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0002298 | HP:0002555 | Absent pubic hair | 1 | NR5A1 CL E G H | 2516 | 7983 | OMIM:612964 | PREMATURE OVARIAN FAILURE 7; POF7 | | | | 38 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | 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:0002298 | HP:0002550 | Absent facial hair | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 11 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | . | | | 69 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | . | | | 2 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | | | | 7 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | | | | 7 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 26 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0002298 | HP:0002221 | Absent axillary hair | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0002298 | HP:0002223 | Absent eyebrow | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0002298 | HP:0002550 | Absent facial hair | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | HOXC13 CL E G H | 3229 | 5125 | OMIM:614931 | Ectodermal dysplasia 9, Hair/nail type | | | | 3 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | HR CL E G H | 55806 | 5172 | ORPHA:701 | Alopecia universalis | HP:0040281 - Very frequent | | | 106 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | . | | | 2 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | 645 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | LRP1 CL E G H | 4035 | 6692 | OMIM:604093 | Keratosis pilaris atrophicans | | | | 4 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | 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:0002298 | HP:0000561 | Absent eyelashes | 2 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | . | | | 69 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0002298 | HP:0000561 | Absent eyelashes | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0002298 | HP:0040056 | Absent upper eyelashes | 3 | CL E G H | | | | | | | | | | |
HP:0002298 | HP:0007708 | Absent inner eyelashes | 3 | CL E G H | | | | | | | | | | |
HP:0002298 | HP:0007646 | Absent lower eyelashes | 3 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0002298 | HP:0007646 | Absent lower eyelashes | 3 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |