Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001007 | HP:0001007 | Hirsutism | 0 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1221 | 218 | 604539 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 692 | 714 | 611542 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 694 | 966 | 209901 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 458 | 29426 | 612753 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | FSHR CL E G H | 2492 | 64739 | | | | ORPHA | 1 | | 176 | 3969 | 136435 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 277 | 4696 | 611499 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | H6PD CL E G H | 9563 | 604931 | Cortisone reductase deficiency 1 | 604931 | C3551716 | OMIM | 1 | | 143 | 4795 | 138090 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NR3C1 CL E G H | 2908 | 786 | Arthrogryposis multiplex congenita distal | | | ORPHA | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NR3C1 CL E G H | 2908 | 615962 | Glucocorticoid resistance, generalized | 615962 | C1841972 | OMIM | 1 | | 188 | 7978 | 138040 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | PAPSS2 CL E G H | 9060 | 612847 | Spondyloepimetaphyseal dysplasia, pakistani type | 612847 | C2748515 | OMIM | 1 | | 234 | 8604 | 603005 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | PRKAR1A CL E G H | 5573 | 1359 | | | | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SGSH CL E G H | 6448 | 252900 | Mucopolysaccharidosis, MPS-III-A | 252900 | C0086647 | OMIM | 1 | | 963 | 10818 | 605270 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SRCAP CL E G H | 10847 | 136140 | Floating-Harbor syndrome | 136140 | C0729582 | OMIM | 1 | | 620 | 16974 | 611421 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | TAF6 CL E G H | 6878 | 617126 | Alazami-Yuan syndrome | 617126 | C4310702 | OMIM | 1 | | 87 | 11540 | 602955 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 165 | 18179 | 610034 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | WNT4 CL E G H | 54361 | 158330 | Mullerian aplasia and hyperandrogenism | 158330 | C2675014 | OMIM | 1 | | 42 | 12783 | 603490 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001007 | HP:0001007 | Hirsutism | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0001007 | Hirsutism | 0 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0009889 | Localized hirsutism | 1 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |
HP:0001007 | HP:0002230 | Generalized hirsutism | 1 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0009747 | Lumbosacral hirsutism | 2 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |
HP:0001007 | HP:0009937 | Facial hirsutism | 2 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |
HP:0001007 | HP:0034042 | Dorsal hirsutism | 2 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 0 | | 112 | 9688 | 603198 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 0 | | 329 | 4170 | 305371 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 751 | 4319 | 165240 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 0 | | 322 | 13315 | 300269 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 0 | | 231 | 5218 | 613890 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 0 | | 678 | 12637 | 300128 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | MAP3K1 CL E G H | 4214 | 613762 | 46,XY sex reversal, type 6 | 613762 | C3151064 | OMIM | 0 | | 184 | 6848 | 600982 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 161 | 6859 | 602614 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 0 | | 123 | 7045 | 602616 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 0 | | 172 | 19321 | 605955 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 0 | | 402 | 9208 | 124015 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SMARCA4 CL E G H | 6597 | 614609 | Mental retardation, autosomal dominant 16 | 614609 | C3553249 | OMIM | 0 | | 4367 | 11100 | 603254 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 0 | | 901 | 11103 | 601607 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | SMO CL E G H | 6608 | 601707 | Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | 601707 | C0795915 | OMIM | 0 | | 123 | 11119 | 601500 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 345 | 11535 | 313650 |
HP:0001007 | HP:0011335 | Frontal hirsutism | 3 | TBC1D20 CL E G H | 128637 | 615663 | Warburg micro syndrome 4 | 615663 | C3810265 | OMIM | 0 | | 154 | 16133 | 611663 |