Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal hair quantity (HP:0011362)help
..Starting node
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Hirsutism (HP:0001007)help
Term ID: 1007
Name: Hirsutism
Synonym: Excessive hairiness
Definition: Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Comments:
Reference: HP:0001007
Genes and Diseases:
 
       Child Nodes:
........expandGeneralized hirsutism (HP:0002230) help
........expandLocalized hirsutism (HP:0009889) help
................... HP:0009747 Lumbosacral hirsutism
................... HP:0009937 Facial hirsutism

 Sister Nodes: 
..expandAbsent hair (HP:0002298) help
..expandAlopecia (HP:0001596) help
..expandAnagen effluvium (HP:0025469) help
..expandHypertrichosis (HP:0000998) help
..expandobsolete Hypotrichosis (HP:0001006) help
..expandTelogen effluvium (HP:0025470) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001007HP:0001007Hirsutism0ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0001007Hirsutism0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0001007Hirsutism0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0001007Hirsutism0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0001007Hirsutism0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0001007Hirsutism0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0001007Hirsutism0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0001007Hirsutism0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0001007Hirsutism0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0001007Hirsutism0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0001007Hirsutism0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0001007Hirsutism0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0001007Hirsutism0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0001007Hirsutism0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0001007Hirsutism0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0001007Hirsutism0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0001007Hirsutism0CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0001007Hirsutism0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0001007Hirsutism0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0001007Hirsutism0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0001007Hirsutism0FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0001007Hirsutism0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0001007Hirsutism0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0001007Hirsutism0H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0001007Hirsutism0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0001007Hirsutism0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0001007Hirsutism0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0001007Hirsutism0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0001007Hirsutism0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0001007Hirsutism0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0001007Hirsutism0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0001007Hirsutism0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0001007Hirsutism0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0001007Hirsutism0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0001007Hirsutism0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0001007Hirsutism0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0001007Hirsutism0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0001007Hirsutism0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0001007Hirsutism0PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0001007Hirsutism0PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0001007Hirsutism0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0001007Hirsutism0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0001007Hirsutism0RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0001007Hirsutism0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0001007Hirsutism0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0001007Hirsutism0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0001007Hirsutism0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0001007Hirsutism0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0001007Hirsutism0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0001007Hirsutism0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0001007Hirsutism0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0001007Hirsutism0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0001007Hirsutism0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0001007Hirsutism0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0001007Hirsutism0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0001007Hirsutism0WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
HP:0001007HP:0009889Localized hirsutism1ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0002230Generalized hirsutism1ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0009889Localized hirsutism1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0002230Generalized hirsutism1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0009889Localized hirsutism1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0002230Generalized hirsutism1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0002230Generalized hirsutism1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0009889Localized hirsutism1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0009889Localized hirsutism1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0002230Generalized hirsutism1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0009889Localized hirsutism1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0002230Generalized hirsutism1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0009889Localized hirsutism1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0002230Generalized hirsutism1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0009889Localized hirsutism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0002230Generalized hirsutism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0009889Localized hirsutism1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0002230Generalized hirsutism1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0009889Localized hirsutism1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0002230Generalized hirsutism1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0002230Generalized hirsutism1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0009889Localized hirsutism1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0002230Generalized hirsutism1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0009889Localized hirsutism1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0009889Localized hirsutism1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0002230Generalized hirsutism1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0002230Generalized hirsutism1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0009889Localized hirsutism1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0002230Generalized hirsutism1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0009889Localized hirsutism1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0009889Localized hirsutism1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0002230Generalized hirsutism1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0009889Localized hirsutism1CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0002230Generalized hirsutism1CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0002230Generalized hirsutism1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0009889Localized hirsutism1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0009889Localized hirsutism1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0002230Generalized hirsutism1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0002230Generalized hirsutism1FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0009889Localized hirsutism1FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0009889Localized hirsutism1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0002230Generalized hirsutism1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0009889Localized hirsutism1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0002230Generalized hirsutism1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0009889Localized hirsutism1FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0002230Generalized hirsutism1FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0009889Localized hirsutism1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0002230Generalized hirsutism1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0009889Localized hirsutism1FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0002230Generalized hirsutism1FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0002230Generalized hirsutism1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0009889Localized hirsutism1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0009889Localized hirsutism1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0002230Generalized hirsutism1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0009889Localized hirsutism1H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0002230Generalized hirsutism1H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0009889Localized hirsutism1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0002230Generalized hirsutism1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0009889Localized hirsutism1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0009889Localized hirsutism1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0009889Localized hirsutism1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0002230Generalized hirsutism1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0009889Localized hirsutism1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0002230Generalized hirsutism1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0009889Localized hirsutism1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0002230Generalized hirsutism1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0009889Localized hirsutism1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0002230Generalized hirsutism1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0009889Localized hirsutism1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0002230Generalized hirsutism1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0009889Localized hirsutism1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0002230Generalized hirsutism1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0009889Localized hirsutism1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0002230Generalized hirsutism1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0002230Generalized hirsutism1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0009889Localized hirsutism1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0009889Localized hirsutism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0002230Generalized hirsutism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0002230Generalized hirsutism1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0009889Localized hirsutism1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0009889Localized hirsutism1NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0002230Generalized hirsutism1NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0009889Localized hirsutism1NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0002230Generalized hirsutism1NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0009889Localized hirsutism1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0002230Generalized hirsutism1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0009889Localized hirsutism1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0002230Generalized hirsutism1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0009889Localized hirsutism1PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0002230Generalized hirsutism1PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0009889Localized hirsutism1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0002230Generalized hirsutism1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0009889Localized hirsutism1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0002230Generalized hirsutism1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0009889Localized hirsutism1PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0002230Generalized hirsutism1PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0009889Localized hirsutism1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0002230Generalized hirsutism1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0009889Localized hirsutism1RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0002230Generalized hirsutism1RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0009889Localized hirsutism1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0002230Generalized hirsutism1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0009889Localized hirsutism1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0002230Generalized hirsutism1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0009889Localized hirsutism1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0002230Generalized hirsutism1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0002230Generalized hirsutism1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0009889Localized hirsutism1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0009889Localized hirsutism1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0002230Generalized hirsutism1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0002230Generalized hirsutism1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0009889Localized hirsutism1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0002230Generalized hirsutism1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0009889Localized hirsutism1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0009889Localized hirsutism1UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0002230Generalized hirsutism1UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0009889Localized hirsutism1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0002230Generalized hirsutism1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0009889Localized hirsutism1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0002230Generalized hirsutism1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0009889Localized hirsutism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0002230Generalized hirsutism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0009889Localized hirsutism1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0002230Generalized hirsutism1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0002230Generalized hirsutism1WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
HP:0001007HP:0009889Localized hirsutism1WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
HP:0001007HP:0034042Dorsal hirsutism2ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0009747Lumbosacral hirsutism2ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0009937Facial hirsutism2ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0009937Facial hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0034042Dorsal hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0009747Lumbosacral hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0034042Dorsal hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0009747Lumbosacral hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0009937Facial hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0009747Lumbosacral hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0009937Facial hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0034042Dorsal hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0009747Lumbosacral hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0009937Facial hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0034042Dorsal hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0009747Lumbosacral hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0009937Facial hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0034042Dorsal hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0009937Facial hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0034042Dorsal hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0009747Lumbosacral hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0009747Lumbosacral hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0009937Facial hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0034042Dorsal hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0034042Dorsal hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0009747Lumbosacral hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0009937Facial hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0009937Facial hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0034042Dorsal hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0009747Lumbosacral hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0009747Lumbosacral hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0009937Facial hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0034042Dorsal hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0009747Lumbosacral hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0009937Facial hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0034042Dorsal hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0034042Dorsal hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0009747Lumbosacral hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0009937Facial hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0009747Lumbosacral hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0009937Facial hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0034042Dorsal hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0009747Lumbosacral hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0009937Facial hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0034042Dorsal hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0009937Facial hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0034042Dorsal hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0009747Lumbosacral hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0009747Lumbosacral hirsutism2CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0009937Facial hirsutism2CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0034042Dorsal hirsutism2CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0009747Lumbosacral hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0009937Facial hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0034042Dorsal hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0009937Facial hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0034042Dorsal hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0009747Lumbosacral hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0009747Lumbosacral hirsutism2FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0009937Facial hirsutism2FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0034042Dorsal hirsutism2FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0034042Dorsal hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0009747Lumbosacral hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0009937Facial hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0034042Dorsal hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0009747Lumbosacral hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0009937Facial hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0009747Lumbosacral hirsutism2FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0009937Facial hirsutism2FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0034042Dorsal hirsutism2FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0034042Dorsal hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0009747Lumbosacral hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0009937Facial hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0009937Facial hirsutism2FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0034042Dorsal hirsutism2FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0009747Lumbosacral hirsutism2FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0009747Lumbosacral hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0009937Facial hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0034042Dorsal hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0034042Dorsal hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0009747Lumbosacral hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0009937Facial hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0034042Dorsal hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0009747Lumbosacral hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0009937Facial hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0009937Facial hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0034042Dorsal hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0009747Lumbosacral hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0009747Lumbosacral hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0009937Facial hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0034042Dorsal hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0009747Lumbosacral hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0009937Facial hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0034042Dorsal hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0009937Facial hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0034042Dorsal hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0009747Lumbosacral hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0009747Lumbosacral hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0009937Facial hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0034042Dorsal hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0034042Dorsal hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0009747Lumbosacral hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0009937Facial hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0009937Facial hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0034042Dorsal hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0009747Lumbosacral hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0034042Dorsal hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0009747Lumbosacral hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0009937Facial hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0009937Facial hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0034042Dorsal hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0009747Lumbosacral hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0034042Dorsal hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0009747Lumbosacral hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0009937Facial hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0009747Lumbosacral hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0009937Facial hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0034042Dorsal hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0009747Lumbosacral hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0009937Facial hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0034042Dorsal hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0009747Lumbosacral hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0009937Facial hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0034042Dorsal hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0009747Lumbosacral hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0009937Facial hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0034042Dorsal hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0009937Facial hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0034042Dorsal hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0009747Lumbosacral hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0009747Lumbosacral hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0009937Facial hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0034042Dorsal hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0009937Facial hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0034042Dorsal hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0009747Lumbosacral hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0034042Dorsal hirsutism2PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0009747Lumbosacral hirsutism2PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0009937Facial hirsutism2PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0009747Lumbosacral hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0009937Facial hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0034042Dorsal hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0034042Dorsal hirsutism2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0009747Lumbosacral hirsutism2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0009937Facial hirsutism2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0034042Dorsal hirsutism2PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0009747Lumbosacral hirsutism2PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0009937Facial hirsutism2PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0009747Lumbosacral hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0009937Facial hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0034042Dorsal hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0009937Facial hirsutism2RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0034042Dorsal hirsutism2RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0009747Lumbosacral hirsutism2RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0009937Facial hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0034042Dorsal hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0009747Lumbosacral hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0009747Lumbosacral hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0009937Facial hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0034042Dorsal hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0034042Dorsal hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0009747Lumbosacral hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0009937Facial hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0009747Lumbosacral hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0009937Facial hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0034042Dorsal hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0009747Lumbosacral hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0009937Facial hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0034042Dorsal hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0009747Lumbosacral hirsutism2SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0009937Facial hirsutism2SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0034042Dorsal hirsutism2SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0009747Lumbosacral hirsutism2TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0009937Facial hirsutism2TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0034042Dorsal hirsutism2TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0034042Dorsal hirsutism2UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0009747Lumbosacral hirsutism2UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0009937Facial hirsutism2UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0009747Lumbosacral hirsutism2USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0009937Facial hirsutism2USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0034042Dorsal hirsutism2USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0009937Facial hirsutism2VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0034042Dorsal hirsutism2VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0009747Lumbosacral hirsutism2VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0009747Lumbosacral hirsutism2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0009937Facial hirsutism2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0034042Dorsal hirsutism2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0009937Facial hirsutism2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0034042Dorsal hirsutism2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0009747Lumbosacral hirsutism2WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0009747Lumbosacral hirsutism2WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
HP:0001007HP:0009937Facial hirsutism2WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
HP:0001007HP:0034042Dorsal hirsutism2WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
HP:0001007HP:0011335Frontal hirsutism3ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15135612503
HP:0001007HP:0011335Frontal hirsutism3ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0001007HP:0011335Frontal hirsutism3AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0001007HP:0011335Frontal hirsutism3AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0001007HP:0011335Frontal hirsutism3ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0001007HP:0011335Frontal hirsutism3ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001007HP:0011335Frontal hirsutism3ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001007HP:0011335Frontal hirsutism3BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0001007HP:0011335Frontal hirsutism3BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0001007HP:0011335Frontal hirsutism3BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11951068300247
HP:0001007HP:0011335Frontal hirsutism3BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001007HP:0011335Frontal hirsutism3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001007HP:0011335Frontal hirsutism3CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0001007HP:0011335Frontal hirsutism3CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0001007HP:0011335Frontal hirsutism3CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001007HP:0011335Frontal hirsutism3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001007HP:0011335Frontal hirsutism3CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0001007HP:0011335Frontal hirsutism3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001007HP:0011335Frontal hirsutism3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001007HP:0011335Frontal hirsutism3FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0001007HP:0011335Frontal hirsutism3FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0001007HP:0011335Frontal hirsutism3FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0001007HP:0011335Frontal hirsutism3FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0011335Frontal hirsutism3FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0011335Frontal hirsutism3FSHR CL E G H249264739ORPHA11763969136435
HP:0001007HP:0011335Frontal hirsutism3GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001007HP:0011335Frontal hirsutism3GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0001007HP:0011335Frontal hirsutism3H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11434795138090
HP:0001007HP:0011335Frontal hirsutism3HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001007HP:0011335Frontal hirsutism3IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0001007HP:0011335Frontal hirsutism3IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0001007HP:0011335Frontal hirsutism3KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001007HP:0011335Frontal hirsutism3KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001007HP:0011335Frontal hirsutism3KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001007HP:0011335Frontal hirsutism3LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0001007HP:0011335Frontal hirsutism3LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001007HP:0011335Frontal hirsutism3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0001007HP:0011335Frontal hirsutism3NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0001007HP:0011335Frontal hirsutism3NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001007HP:0011335Frontal hirsutism3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001007HP:0011335Frontal hirsutism3NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0001007HP:0011335Frontal hirsutism3NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11887978138040
HP:0001007HP:0011335Frontal hirsutism3NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11887978138040
HP:0001007HP:0011335Frontal hirsutism3OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17892567300170
HP:0001007HP:0011335Frontal hirsutism3PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM12348604603005
HP:0001007HP:0011335Frontal hirsutism3PLAA CL E G H9373521426ORPHA13389043603873
HP:0001007HP:0011335Frontal hirsutism3PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0001007HP:0011335Frontal hirsutism3PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0011335Frontal hirsutism3PRKAR1A CL E G H55731359ORPHA19169388188830
HP:0001007HP:0011335Frontal hirsutism3PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM19169388188830
HP:0001007HP:0011335Frontal hirsutism3RIN2 CL E G H54453217335ORPHA130118750610222
HP:0001007HP:0011335Frontal hirsutism3SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM183018420612778
HP:0001007HP:0011335Frontal hirsutism3SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001007HP:0011335Frontal hirsutism3SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0001007HP:0011335Frontal hirsutism3SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0001007HP:0011335Frontal hirsutism3SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0001007HP:0011335Frontal hirsutism3SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM162016974611421
HP:0001007HP:0011335Frontal hirsutism3TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001007HP:0011335Frontal hirsutism3UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0001007HP:0011335Frontal hirsutism3USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0001007HP:0011335Frontal hirsutism3VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0001007HP:0011335Frontal hirsutism3WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0001007HP:0011335Frontal hirsutism3WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001007HP:0011335Frontal hirsutism3WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14212783603490
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001007HP:0001007Hirsutism0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0001007Hirsutism0GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0001007Hirsutism0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0001007Hirsutism0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0001007Hirsutism0HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0001007Hirsutism0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0001007Hirsutism0MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0001007Hirsutism0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0001007Hirsutism0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0001007Hirsutism0NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0001007Hirsutism0POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0001007Hirsutism0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0001007Hirsutism0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0001007Hirsutism0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0001007Hirsutism0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0001007Hirsutism0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663
HP:0001007HP:0002230Generalized hirsutism1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0009889Localized hirsutism1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0009889Localized hirsutism1GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0002230Generalized hirsutism1GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0009889Localized hirsutism1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0002230Generalized hirsutism1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0002230Generalized hirsutism1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0009889Localized hirsutism1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0002230Generalized hirsutism1HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0009889Localized hirsutism1HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0009889Localized hirsutism1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0002230Generalized hirsutism1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0009889Localized hirsutism1MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0002230Generalized hirsutism1MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0009889Localized hirsutism1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0002230Generalized hirsutism1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0009889Localized hirsutism1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0002230Generalized hirsutism1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0009889Localized hirsutism1NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0002230Generalized hirsutism1NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0009889Localized hirsutism1POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0002230Generalized hirsutism1POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0002230Generalized hirsutism1SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0009889Localized hirsutism1SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0009889Localized hirsutism1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0002230Generalized hirsutism1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0002230Generalized hirsutism1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0009889Localized hirsutism1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0009889Localized hirsutism1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0002230Generalized hirsutism1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0009889Localized hirsutism1TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663
HP:0001007HP:0002230Generalized hirsutism1TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663
HP:0001007HP:0009747Lumbosacral hirsutism2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0009937Facial hirsutism2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0034042Dorsal hirsutism2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0009937Facial hirsutism2GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0034042Dorsal hirsutism2GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0009747Lumbosacral hirsutism2GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0034042Dorsal hirsutism2GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0009747Lumbosacral hirsutism2GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0009937Facial hirsutism2GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0009747Lumbosacral hirsutism2HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0009937Facial hirsutism2HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0034042Dorsal hirsutism2HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0009747Lumbosacral hirsutism2HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0009937Facial hirsutism2HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0034042Dorsal hirsutism2HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0009937Facial hirsutism2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0034042Dorsal hirsutism2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0009747Lumbosacral hirsutism2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0009747Lumbosacral hirsutism2MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0009937Facial hirsutism2MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0034042Dorsal hirsutism2MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0009747Lumbosacral hirsutism2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0009937Facial hirsutism2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0034042Dorsal hirsutism2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0034042Dorsal hirsutism2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0009747Lumbosacral hirsutism2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0009937Facial hirsutism2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0009937Facial hirsutism2NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0034042Dorsal hirsutism2NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0009747Lumbosacral hirsutism2NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0034042Dorsal hirsutism2POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0009747Lumbosacral hirsutism2POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0009937Facial hirsutism2POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0009747Lumbosacral hirsutism2SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0009937Facial hirsutism2SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0034042Dorsal hirsutism2SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0009937Facial hirsutism2SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0034042Dorsal hirsutism2SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0009747Lumbosacral hirsutism2SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0009747Lumbosacral hirsutism2SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0009937Facial hirsutism2SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0034042Dorsal hirsutism2SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0009747Lumbosacral hirsutism2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0009937Facial hirsutism2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0034042Dorsal hirsutism2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0009747Lumbosacral hirsutism2TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663
HP:0001007HP:0009937Facial hirsutism2TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663
HP:0001007HP:0034042Dorsal hirsutism2TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663
HP:0001007HP:0011335Frontal hirsutism3CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM01129688603198
HP:0001007HP:0011335Frontal hirsutism3GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM03294170305371
HP:0001007HP:0011335Frontal hirsutism3GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001007HP:0011335Frontal hirsutism3HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM032213315300269
HP:0001007HP:0011335Frontal hirsutism3HSD3B2 CL E G H328490791ORPHA02315218613890
HP:0001007HP:0011335Frontal hirsutism3KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM067812637300128
HP:0001007HP:0011335Frontal hirsutism3MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM01846848600982
HP:0001007HP:0011335Frontal hirsutism3MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001007HP:0011335Frontal hirsutism3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM01237045602616
HP:0001007HP:0011335Frontal hirsutism3NKX6-2 CL E G H84504527497ORPHA017219321605955
HP:0001007HP:0011335Frontal hirsutism3POR CL E G H544795699ORPHA04029208124015
HP:0001007HP:0011335Frontal hirsutism3SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM0436711100603254
HP:0001007HP:0011335Frontal hirsutism3SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM090111103601607
HP:0001007HP:0011335Frontal hirsutism3SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM012311119601500
HP:0001007HP:0011335Frontal hirsutism3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0001007HP:0011335Frontal hirsutism3TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM015416133611663


Genes (162) :ABCA5 ABCC9 ADAMTS2 AGPAT2 AIP AKT1 ALMS1 ARID1A ARID1B ARID2 ARL6 ARMC5 ARSB ARX ASXL1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11B BMP15 BSCL2 C8ORF37 CACNA1G CAV1 CAVIN1 CCBE1 CDH23 CDK5 CEP290 CKAP2L COX1 COX2 COX3 CREBBP CTSC CYP11B1 CYP19A1 DPF2 ELMO2 EP300 ERCC6 FGFR2 FLNA FOS FRMD4A FSHR GABRD GATA1 GJA1 GJB3 GJB4 GLI3 GNAS GNE GNPTAB GNS GPR101 GUSB H6PD HDAC8 HGSNAT HSD3B2 HSPG2 IDUA IFT172 IFT27 INSR IRF6 KCNAB2 KCNH1 KCNJ8 KDM6A KDSR KMT2A KMT2D LMNA LMNB2 LRPPRC LZTFL1 MAP3K1 MAP3K7 MAPRE2 MBD5 MC1R MGAT2 MKKS MKS1 MMP2 NAGLU NANS ND1 ND4 ND5 ND6 NFIX NIPBL NKX6-2 NOTCH2 NPHP1 NR3C1 NRAS OFD1 PAPSS2 PEPD PLAA POR PPARG PRDM16 PRKACA PRKAR1A PTEN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RERE RIN2 SDCCAG8 SETD2 SETD5 SGSH SHROOM4 SKI SLC25A24 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMO SOX11 SRCAP SUCLA2 TAF1 TAF6 TBC1D20 TBX15 TRIM32 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC8 TUBB TWIST1 TWIST2 UBE2A USP8 VPS33A WAC WDPCP WDR81 WNT4

Diseases (131) :135400 225410 608594 219090 253200 300004 605039 209900 617237 300510 269700 618087 612526 613327 235510 616342 180849 90795 214150 313855 614592 305620 466688 616819 64739 314050 175700 252940 253220 604931 300882 252930 90791 607014 607015 135500 147920 300867 151660 220111 613762 617137 212066 259600 252920 610442 122470 527497 102500 786 615962 300804 612847 521426 95699 604367 615830 1359 160980 217335 616831 252900 300434 614609 614608 300590 610759 601707 136140 300966 617126 615663 300860 617303 616708 610185 158330 2026 1517 966 528 963 744 64 1465 110 189427 2508 363400 96253 550 678 91 3019 1606 317 269921 576 199 800 255800 93473 93476 769 508 2297 1300 319182 280365 2348 79087 2505 228402 626 561 955 742 79083 2510 2963 2095 1553 2044 1933 617746 1231 135900 260660 247768 272440 309350
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.