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:0008070 | HP:0008070 | Sparse hair | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 75 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | HP:0040280 - Obligate | HP:0011463 - Childhood onset | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | | | | 125 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | | | | 125 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | . | | | 192 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | | | | 168 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | | | | 29 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | . | | | 17 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 16 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:840 | Syringocystadenoma papilliferum | | | | 276 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | | | | 242 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | . | | | 1003 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:601553 | Hypotrichosis, congenital, with juvenile macular dystrophy | | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:146520 | Hypotrichosis 2 | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | | | | 20 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | | | | 161 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | | | | 146 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CLMP CL E G H | 79827 | 24039 | ORPHA:2301 | Congenital short bowel syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 129 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 54 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 65 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | | | | 55 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | | | | 63 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 63 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 63 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | . | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EPS8L3 CL E G H | 79574 | 21297 | ORPHA:444 | Marie Unna hereditary hypotrichosis | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | . | | | 106 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | . | | | 102 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | | | | 59 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:2301 | Congenital short bowel syndrome | HP:0040282 - Frequent | | | 493 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | | | | 30 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | | | | 92 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 50 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 15 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 92 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HOXC13 CL E G H | 3229 | 5125 | OMIM:614931 | Ectodermal dysplasia 9, Hair/nail type | . | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HPD CL E G H | 3242 | 5147 | ORPHA:2118 | Hawkinsinuria | HP:0040281 - Very frequent | | | 23 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HR CL E G H | 55806 | 5172 | OMIM:209500 | Atrichia with papular lesions | . | | | 106 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HR CL E G H | 55806 | 5172 | ORPHA:444 | Marie Unna hereditary hypotrichosis | | | | 106 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | . | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | . | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | HP:0003581 - Adult onset | | 52 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 124 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | | | | 222 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | . | | | 196 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | | | | 23 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT71 CL E G H | 112802 | 28927 | OMIM:615896 | Hypotrichosis 13 | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:613981 | Hypotrichosis 3 | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | . | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 65 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | . | | | 65 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 10 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | . | | | 10 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | | | | 88 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | . | | | 12 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 12 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | | | | 12 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | . | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | . | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAP3K1 CL E G H | 4214 | 6848 | OMIM:613762 | 46,xy sex reversal 6 | | | | 13 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | 22 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | HP:0040283 - Occasional | | | 39 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 25 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:189500 | Witkop syndrome | . | | | 12 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | | | | 1952 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 27 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 60 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 17 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 452 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 38 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | | | | 84 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 26 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | | | | 531 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | | | | 11 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | HP:0003581 - Adult onset | | 10 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | . | | | 53 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | | | | 68 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040282 - Frequent | | | 445 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RPL21 CL E G H | 6144 | 10313 | OMIM:615885 | Hypotrichosis 12 | . | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 77 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 16 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | | | | 74 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | . | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040282 - Frequent | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | | | | 100 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ST14 CL E G H | 6768 | 11344 | ORPHA:91132 | Ichthyosis-hypotrichosis syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 238 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | HP:0040283 - Occasional | | | 98 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 60 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | 151 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | HP:0040283 - Occasional | | | 151 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TSPEAR CL E G H | 54084 | 1268 | OMIM:618180 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | | | | 39 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TSR2 CL E G H | 90121 | 25455 | OMIM:300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 26 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:227260 | FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | HP:0040281 - Very frequent | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 10 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | . | | | 71 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | . | | | 71 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | HP:0040283 - Occasional | | | 71 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:617073 | Tooth agenesis, selective, 8 | HP:0040283 - Occasional | | | 4 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0008070 | HP:0008070 | Sparse hair | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | . | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | APCDD1 CL E G H | 147495 | 15718 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 168 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:840 | Syringocystadenoma papilliferum | HP:0040281 - Very frequent | | | 276 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040281 - Very frequent | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDSN CL E G H | 1041 | 1802 | OMIM:146520 | Hypotrichosis 2 | . | | | 7 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040283 - Occasional | | | 215 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | | | | | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | 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:0008070 | HP:0002215 | Sparse axillary hair | 1 | 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:0008070 | HP:0002225 | Sparse pubic hair | 1 | 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:0008070 | HP:0002215 | Sparse axillary hair | 1 | 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:0008070 | HP:0002231 | Sparse body hair | 1 | 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:0008070 | HP:0002225 | Sparse pubic hair | 1 | 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:0008070 | HP:0002225 | Sparse pubic hair | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | . | | | 55 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | . | | | 63 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 63 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 63 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | DSG4 CL E G H | 147409 | 21307 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 63 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 86 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:614941 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | . | | | 56 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | EPS8L3 CL E G H | 79574 | 21297 | ORPHA:444 | Marie Unna hereditary hypotrichosis | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 96 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0008070 | HP:0004528 | Generalized hypotrichosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 56 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0008070 | HP:0004528 | Generalized hypotrichosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | HR CL E G H | 55806 | 5172 | ORPHA:444 | Marie Unna hereditary hypotrichosis | HP:0040281 - Very frequent | | | 106 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | | | | | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 124 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | HP:0040282 - Frequent | | | 222 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040282 - Frequent | | | 141 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | . | | | 5 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | . | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | . | | | 23 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | KRT71 CL E G H | 112802 | 28927 | OMIM:615896 | Hypotrichosis 13 | | | | 1 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | | | | 5 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:613981 | Hypotrichosis 3 | | | | 5 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 5 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | HP:0040283 - Occasional | | | 2 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | | | | 12 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | | | | 12 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | . | | | 12 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | | | | 12 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 12 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 12 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LIPH CL E G H | 200879 | 18483 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 12 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 12 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 8 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | HP:0040283 - Occasional | | | 8 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | | | | 2 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | . | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | MAP3K1 CL E G H | 4214 | 6848 | OMIM:613762 | 46,xy sex reversal 6 | . | | | 13 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0008070 | HP:0002296 | Progressive hypotrichosis | 1 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:139474 | 17q11.2 microduplication syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 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:0008070 | HP:0002209 | Sparse scalp hair | 1 | 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:0008070 | HP:0002225 | Sparse pubic hair | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 531 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 9 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0008070 | HP:0007464 | Sparse facial hair | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | RPL21 CL E G H | 6144 | 10313 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 74 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SNRPE CL E G H | 6635 | 11161 | ORPHA:55654 | Hypotrichosis simplex | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | | | | 140 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 238 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 171 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | TSPEAR CL E G H | 54084 | 1268 | OMIM:618180 | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | | | | 39 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TSR2 CL E G H | 90121 | 25455 | OMIM:300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | | | | 7 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0008070 | HP:0002209 | Sparse scalp hair | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0008070 | HP:0002231 | Sparse body hair | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0008070 | HP:0002215 | Sparse axillary hair | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0008070 | HP:0000653 | Sparse eyelashes | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0008070 | HP:0002225 | Sparse pubic hair | 1 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0008070 | HP:0040050 | Sparse upper eyelashes | 2 | CL E G H | | | | | | | | | | |
HP:0008070 | HP:0004768 | Sparse anterior scalp hair | 2 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008070 | HP:0004768 | Sparse anterior scalp hair | 2 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0008070 | HP:0004768 | Sparse anterior scalp hair | 2 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0008070 | HP:0007776 | Sparse lower eyelashes | 2 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0008070 | HP:0007776 | Sparse lower eyelashes | 2 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0008070 | HP:0007776 | Sparse lower eyelashes | 2 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | . | | | 140 | | |
HP:0008070 | HP:0007776 | Sparse lower eyelashes | 2 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | HP:0040282 - Frequent | | | 7 | | |