Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal hair morphology (HP:0001595)help
Parent Node:
expand
Abnormal hair quantity (HP:0011362)help
..Starting node
..expand
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 hypertrichosis135400C1851120OMIM15035612503
HP:0001007HP:0001007Hirsutism0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0001007HP:0001007Hirsutism0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0001007HP:0001007Hirsutism0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001007HP:0001007Hirsutism0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001007HP:0001007Hirsutism0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0001007HP:0001007Hirsutism0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0001007HP:0001007Hirsutism0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001007HP:0001007Hirsutism0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001007HP:0001007Hirsutism0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001007HP:0001007Hirsutism0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001007HP:0001007Hirsutism0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001007HP:0001007Hirsutism0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001007HP:0001007Hirsutism0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001007HP:0001007Hirsutism0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001007HP:0001007Hirsutism0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001007HP:0001007Hirsutism0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001007HP:0001007Hirsutism0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0001007HP:0001007Hirsutism0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0001007HP:0001007Hirsutism0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001007HP:0001007Hirsutism0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001007HP:0001007Hirsutism0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001007HP:0001007Hirsutism0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001007HP:0001007Hirsutism0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0001007HP:0001007Hirsutism0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0001007HP:0001007Hirsutism0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001007HP:0001007Hirsutism0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001007HP:0001007Hirsutism0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001007HP:0001007Hirsutism0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001007HP:0001007Hirsutism0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001007HP:0001007Hirsutism0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001007HP:0001007Hirsutism0CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001007HP:0001007Hirsutism0CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001007HP:0001007Hirsutism0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001007HP:0001007Hirsutism0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001007HP:0001007Hirsutism0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001007HP:0001007Hirsutism0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15013689176943
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM14663689176943
HP:0001007HP:0001007Hirsutism0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0001007HP:0001007Hirsutism0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15825491616305
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0001007Hirsutism0FSHR CL E G H249264739ORPHA11653969136435
HP:0001007HP:0001007Hirsutism0FSHR CL E G H249264739ORPHA11703969136435
HP:0001007HP:0001007Hirsutism0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001007HP:0001007Hirsutism0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001007HP:0001007Hirsutism0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001007HP:0001007Hirsutism0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001007HP:0001007Hirsutism0H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11184795138090
HP:0001007HP:0001007Hirsutism0H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM1974795138090
HP:0001007HP:0001007Hirsutism0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001007HP:0001007Hirsutism0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001007HP:0001007Hirsutism0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001007HP:0001007Hirsutism0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001007HP:0001007Hirsutism0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001007HP:0001007Hirsutism0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001007HP:0001007Hirsutism0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001007HP:0001007Hirsutism0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001007HP:0001007Hirsutism0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001007HP:0001007Hirsutism0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001007HP:0001007Hirsutism0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001007HP:0001007Hirsutism0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001007HP:0001007Hirsutism0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0001007HP:0001007Hirsutism0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0001007HP:0001007Hirsutism0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001007HP:0001007Hirsutism0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001007HP:0001007Hirsutism0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0001007HP:0001007Hirsutism0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0001007HP:0001007Hirsutism0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001007HP:0001007Hirsutism0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001007HP:0001007Hirsutism0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001007HP:0001007Hirsutism0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001007HP:0001007Hirsutism0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001007HP:0001007Hirsutism0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001007HP:0001007Hirsutism0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001007HP:0001007Hirsutism0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11767978138040
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11847978138040
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11847978138040
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11767978138040
HP:0001007HP:0001007Hirsutism0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001007HP:0001007Hirsutism0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001007HP:0001007Hirsutism0PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0001007HP:0001007Hirsutism0PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0001007HP:0001007Hirsutism0PLAA CL E G H9373521426ORPHA12229043603873
HP:0001007HP:0001007Hirsutism0PLAA CL E G H9373521426ORPHA1969043603873
HP:0001007HP:0001007Hirsutism0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0001007HP:0001007Hirsutism0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0001007HP:0001007Hirsutism0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H55731359ORPHA17259388188830
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H55731359ORPHA16239388188830
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001007HP:0001007Hirsutism0RIN2 CL E G H54453217335ORPHA122918750610222
HP:0001007HP:0001007Hirsutism0RIN2 CL E G H54453217335ORPHA127318750610222
HP:0001007HP:0001007Hirsutism0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0001007HP:0001007Hirsutism0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0001007HP:0001007Hirsutism0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001007HP:0001007Hirsutism0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001007HP:0001007Hirsutism0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0001007HP:0001007Hirsutism0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0001007HP:0001007Hirsutism0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0001007HP:0001007Hirsutism0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0001007HP:0001007Hirsutism0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0001007HP:0001007Hirsutism0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0001007HP:0001007Hirsutism0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM132016974611421
HP:0001007HP:0001007Hirsutism0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM146516974611421
HP:0001007HP:0001007Hirsutism0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18211540602955
HP:0001007HP:0001007Hirsutism0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18011540602955
HP:0001007HP:0001007Hirsutism0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120412472312180
HP:0001007HP:0001007Hirsutism0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120112472312180
HP:0001007HP:0001007Hirsutism0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM111512631603158
HP:0001007HP:0001007Hirsutism0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM19812631603158
HP:0001007HP:0001007Hirsutism0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM113618179610034
HP:0001007HP:0001007Hirsutism0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM19718179610034
HP:0001007HP:0001007Hirsutism0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM118817327615049
HP:0001007HP:0001007Hirsutism0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM117617327615049
HP:0001007HP:0001007Hirsutism0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM124826600614218
HP:0001007HP:0001007Hirsutism0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM125626600614218
HP:0001007HP:0001007Hirsutism0WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM13512783603490
HP:0001007HP:0001007Hirsutism0WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14112783603490
HP:0001007HP:0002230Generalized hirsutism1ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0001007HP:0009889Localized hirsutism1ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0001007HP:0002230Generalized hirsutism1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0001007HP:0009889Localized hirsutism1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0001007HP:0009889Localized hirsutism1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0001007HP:0002230Generalized hirsutism1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0001007HP:0002230Generalized hirsutism1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001007HP:0009889Localized hirsutism1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001007HP:0009889Localized hirsutism1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001007HP:0002230Generalized hirsutism1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001007HP:0009889Localized hirsutism1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0001007HP:0002230Generalized hirsutism1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0001007HP:0002230Generalized hirsutism1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0001007HP:0009889Localized hirsutism1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0001007HP:0002230Generalized hirsutism1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001007HP:0009889Localized hirsutism1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001007HP:0009889Localized hirsutism1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001007HP:0002230Generalized hirsutism1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001007HP:0002230Generalized hirsutism1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001007HP:0009889Localized hirsutism1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001007HP:0009889Localized hirsutism1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001007HP:0002230Generalized hirsutism1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001007HP:0009889Localized hirsutism1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001007HP:0002230Generalized hirsutism1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001007HP:0002230Generalized hirsutism1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001007HP:0009889Localized hirsutism1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001007HP:0002230Generalized hirsutism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001007HP:0009889Localized hirsutism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001007HP:0009889Localized hirsutism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001007HP:0002230Generalized hirsutism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001007HP:0009889Localized hirsutism1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001007HP:0009889Localized hirsutism1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001007HP:0002230Generalized hirsutism1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001007HP:0002230Generalized hirsutism1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001007HP:0002230Generalized hirsutism1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0001007HP:0009889Localized hirsutism1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0001007HP:0009889Localized hirsutism1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0001007HP:0002230Generalized hirsutism1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0001007HP:0009889Localized hirsutism1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001007HP:0002230Generalized hirsutism1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001007HP:0002230Generalized hirsutism1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001007HP:0009889Localized hirsutism1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001007HP:0009889Localized hirsutism1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001007HP:0009889Localized hirsutism1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001007HP:0002230Generalized hirsutism1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001007HP:0002230Generalized hirsutism1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001007HP:0002230Generalized hirsutism1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0001007HP:0009889Localized hirsutism1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0001007HP:0009889Localized hirsutism1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0001007HP:0002230Generalized hirsutism1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0001007HP:0009889Localized hirsutism1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001007HP:0002230Generalized hirsutism1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001007HP:0002230Generalized hirsutism1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001007HP:0009889Localized hirsutism1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001007HP:0009889Localized hirsutism1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001007HP:0009889Localized hirsutism1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001007HP:0002230Generalized hirsutism1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001007HP:0002230Generalized hirsutism1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001007HP:0002230Generalized hirsutism1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001007HP:0009889Localized hirsutism1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001007HP:0009889Localized hirsutism1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001007HP:0002230Generalized hirsutism1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001007HP:0009889Localized hirsutism1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001007HP:0002230Generalized hirsutism1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001007HP:0002230Generalized hirsutism1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001007HP:0009889Localized hirsutism1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001007HP:0009889Localized hirsutism1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001007HP:0002230Generalized hirsutism1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001007HP:0002230Generalized hirsutism1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001007HP:0009889Localized hirsutism1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001007HP:0002230Generalized hirsutism1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001007HP:0009889Localized hirsutism1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001007HP:0009889Localized hirsutism1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001007HP:0002230Generalized hirsutism1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001007HP:0002230Generalized hirsutism1FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0001007HP:0009889Localized hirsutism1FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0001007HP:0009889Localized hirsutism1FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0001007HP:0002230Generalized hirsutism1FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0001007HP:0002230Generalized hirsutism1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM14663689176943
HP:0001007HP:0009889Localized hirsutism1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15013689176943
HP:0001007HP:0009889Localized hirsutism1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM14663689176943
HP:0001007HP:0002230Generalized hirsutism1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15013689176943
HP:0001007HP:0002230Generalized hirsutism1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0001007HP:0009889Localized hirsutism1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0001007HP:0009889Localized hirsutism1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0001007HP:0002230Generalized hirsutism1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0001007HP:0009889Localized hirsutism1FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0002230Generalized hirsutism1FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001007HP:0002230Generalized hirsutism1FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0009889Localized hirsutism1FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001007HP:0009889Localized hirsutism1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15825491616305
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 ataxia616819C4225193OMIM15825491616305
HP:0001007HP:0002230Generalized hirsutism1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0009889Localized hirsutism1FSHR CL E G H249264739ORPHA11653969136435
HP:0001007HP:0002230Generalized hirsutism1FSHR CL E G H249264739ORPHA11703969136435
HP:0001007HP:0002230Generalized hirsutism1FSHR CL E G H249264739ORPHA11653969136435
HP:0001007HP:0009889Localized hirsutism1FSHR CL E G H249264739ORPHA11703969136435
HP:0001007HP:0009889Localized hirsutism1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001007HP:0002230Generalized hirsutism1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001007HP:0002230Generalized hirsutism1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001007HP:0009889Localized hirsutism1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001007HP:0009889Localized hirsutism1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001007HP:0002230Generalized hirsutism1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001007HP:0002230Generalized hirsutism1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001007HP:0009889Localized hirsutism1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001007HP:0002230Generalized hirsutism1H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM1974795138090
HP:0001007HP:0009889Localized hirsutism1H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11184795138090
HP:0001007HP:0009889Localized hirsutism1H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM1974795138090
HP:0001007HP:0002230Generalized hirsutism1H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11184795138090
HP:0001007HP:0002230Generalized hirsutism1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001007HP:0009889Localized hirsutism1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001007HP:0009889Localized hirsutism1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001007HP:0002230Generalized hirsutism1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001007HP:0009889Localized hirsutism1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001007HP:0009889Localized hirsutism1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001007HP:0009889Localized hirsutism1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001007HP:0009889Localized hirsutism1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001007HP:0002230Generalized hirsutism1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001007HP:0009889Localized hirsutism1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001007HP:0009889Localized hirsutism1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001007HP:0002230Generalized hirsutism1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001007HP:0002230Generalized hirsutism1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001007HP:0009889Localized hirsutism1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001007HP:0009889Localized hirsutism1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001007HP:0002230Generalized hirsutism1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001007HP:0009889Localized hirsutism1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001007HP:0002230Generalized hirsutism1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001007HP:0002230Generalized hirsutism1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001007HP:0009889Localized hirsutism1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001007HP:0002230Generalized hirsutism1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0001007HP:0009889Localized hirsutism1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0001007HP:0009889Localized hirsutism1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0001007HP:0002230Generalized hirsutism1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0001007HP:0009889Localized hirsutism1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001007HP:0002230Generalized hirsutism1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001007HP:0002230Generalized hirsutism1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001007HP:0009889Localized hirsutism1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001007HP:0002230Generalized hirsutism1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0001007HP:0009889Localized hirsutism1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0001007HP:0009889Localized hirsutism1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0001007HP:0002230Generalized hirsutism1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0001007HP:0009889Localized hirsutism1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001007HP:0002230Generalized hirsutism1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001007HP:0002230Generalized hirsutism1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001007HP:0009889Localized hirsutism1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001007HP:0002230Generalized hirsutism1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001007HP:0009889Localized hirsutism1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001007HP:0009889Localized hirsutism1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001007HP:0002230Generalized hirsutism1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001007HP:0002230Generalized hirsutism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001007HP:0002230Generalized hirsutism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001007HP:0009889Localized hirsutism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001007HP:0009889Localized hirsutism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001007HP:0009889Localized hirsutism1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001007HP:0009889Localized hirsutism1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001007HP:0002230Generalized hirsutism1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001007HP:0002230Generalized hirsutism1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001007HP:0009889Localized hirsutism1NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11767978138040
HP:0001007HP:0002230Generalized hirsutism1NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11847978138040
HP:0001007HP:0002230Generalized hirsutism1NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11767978138040
HP:0001007HP:0009889Localized hirsutism1NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11847978138040
HP:0001007HP:0002230Generalized hirsutism1NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11847978138040
HP:0001007HP:0002230Generalized hirsutism1NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11767978138040
HP:0001007HP:0009889Localized hirsutism1NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11847978138040
HP:0001007HP:0009889Localized hirsutism1NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11767978138040
HP:0001007HP:0002230Generalized hirsutism1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001007HP:0009889Localized hirsutism1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001007HP:0009889Localized hirsutism1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001007HP:0002230Generalized hirsutism1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001007HP:0009889Localized hirsutism1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0001007HP:0002230Generalized hirsutism1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0001007HP:0002230Generalized hirsutism1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0001007HP:0009889Localized hirsutism1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0001007HP:0002230Generalized hirsutism1PLAA CL E G H9373521426ORPHA1969043603873
HP:0001007HP:0009889Localized hirsutism1PLAA CL E G H9373521426ORPHA12229043603873
HP:0001007HP:0009889Localized hirsutism1PLAA CL E G H9373521426ORPHA1969043603873
HP:0001007HP:0002230Generalized hirsutism1PLAA CL E G H9373521426ORPHA12229043603873
HP:0001007HP:0009889Localized hirsutism1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0001007HP:0002230Generalized hirsutism1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0001007HP:0002230Generalized hirsutism1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0001007HP:0009889Localized hirsutism1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
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:0002230Generalized hirsutism1PRKAR1A CL E G H55731359ORPHA16239388188830
HP:0001007HP:0009889Localized hirsutism1PRKAR1A CL E G H55731359ORPHA17259388188830
HP:0001007HP:0009889Localized hirsutism1PRKAR1A CL E G H55731359ORPHA16239388188830
HP:0001007HP:0002230Generalized hirsutism1PRKAR1A CL E G H55731359ORPHA17259388188830
HP:0001007HP:0002230Generalized hirsutism1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001007HP:0009889Localized hirsutism1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001007HP:0009889Localized hirsutism1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001007HP:0002230Generalized hirsutism1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001007HP:0009889Localized hirsutism1RIN2 CL E G H54453217335ORPHA122918750610222
HP:0001007HP:0002230Generalized hirsutism1RIN2 CL E G H54453217335ORPHA127318750610222
HP:0001007HP:0002230Generalized hirsutism1RIN2 CL E G H54453217335ORPHA122918750610222
HP:0001007HP:0009889Localized hirsutism1RIN2 CL E G H54453217335ORPHA127318750610222
HP:0001007HP:0002230Generalized hirsutism1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0001007HP:0002230Generalized hirsutism1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0001007HP:0009889Localized hirsutism1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0001007HP:0009889Localized hirsutism1SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0001007HP:0002230Generalized hirsutism1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001007HP:0009889Localized hirsutism1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001007HP:0009889Localized hirsutism1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001007HP:0002230Generalized hirsutism1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001007HP:0009889Localized hirsutism1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0001007HP:0002230Generalized hirsutism1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0001007HP:0002230Generalized hirsutism1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0001007HP:0009889Localized hirsutism1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0001007HP:0009889Localized hirsutism1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0001007HP:0002230Generalized hirsutism1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0001007HP:0002230Generalized hirsutism1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0001007HP:0009889Localized hirsutism1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0001007HP:0009889Localized hirsutism1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0001007HP:0002230Generalized hirsutism1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0001007HP:0002230Generalized hirsutism1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0001007HP:0009889Localized hirsutism1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0001007HP:0009889Localized hirsutism1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM132016974611421
HP:0001007HP:0002230Generalized hirsutism1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM146516974611421
HP:0001007HP:0002230Generalized hirsutism1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM132016974611421
HP:0001007HP:0009889Localized hirsutism1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM146516974611421
HP:0001007HP:0009889Localized hirsutism1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18211540602955
HP:0001007HP:0009889Localized hirsutism1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18011540602955
HP:0001007HP:0002230Generalized hirsutism1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18211540602955
HP:0001007HP:0002230Generalized hirsutism1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18011540602955
HP:0001007HP:0002230Generalized hirsutism1UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120412472312180
HP:0001007HP:0009889Localized hirsutism1UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120412472312180
HP:0001007HP:0002230Generalized hirsutism1UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120112472312180
HP:0001007HP:0009889Localized hirsutism1UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120112472312180
HP:0001007HP:0002230Generalized hirsutism1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM19812631603158
HP:0001007HP:0009889Localized hirsutism1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM111512631603158
HP:0001007HP:0009889Localized hirsutism1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM19812631603158
HP:0001007HP:0002230Generalized hirsutism1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM111512631603158
HP:0001007HP:0002230Generalized hirsutism1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM113618179610034
HP:0001007HP:0002230Generalized hirsutism1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM19718179610034
HP:0001007HP:0009889Localized hirsutism1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM113618179610034
HP:0001007HP:0009889Localized hirsutism1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM19718179610034
HP:0001007HP:0002230Generalized hirsutism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM118817327615049
HP:0001007HP:0002230Generalized hirsutism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM117617327615049
HP:0001007HP:0009889Localized hirsutism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM118817327615049
HP:0001007HP:0009889Localized hirsutism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM117617327615049
HP:0001007HP:0009889Localized hirsutism1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM124826600614218
HP:0001007HP:0002230Generalized hirsutism1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM125626600614218
HP:0001007HP:0002230Generalized hirsutism1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM124826600614218
HP:0001007HP:0009889Localized hirsutism1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM125626600614218
HP:0001007HP:0009889Localized hirsutism1WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM13512783603490
HP:0001007HP:0002230Generalized hirsutism1WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14112783603490
HP:0001007HP:0002230Generalized hirsutism1WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM13512783603490
HP:0001007HP:0009889Localized hirsutism1WNT4 CL E G H54361158330Mullerian aplasia and hyperandrogenism158330C2675014OMIM14112783603490
HP:0001007HP:0009747Lumbosacral hirsutism2ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0001007HP:0009937Facial hirsutism2ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0001007HP:0034042Dorsal hirsutism2ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0001007HP:0034042Dorsal hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0001007HP:0009747Lumbosacral hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0001007HP:0009937Facial hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0001007HP:0009937Facial hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0001007HP:0009747Lumbosacral hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0001007HP:0034042Dorsal hirsutism2ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0001007HP:0034042Dorsal hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001007HP:0009747Lumbosacral hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001007HP:0009937Facial hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001007HP:0009937Facial hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001007HP:0034042Dorsal hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001007HP:0009747Lumbosacral hirsutism2AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001007HP:0009937Facial hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0001007HP:0034042Dorsal hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0001007HP:0009747Lumbosacral hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0001007HP:0034042Dorsal hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0001007HP:0009747Lumbosacral hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0001007HP:0009937Facial hirsutism2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0001007HP:0034042Dorsal hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001007HP:0009747Lumbosacral hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001007HP:0009937Facial hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001007HP:0009937Facial hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001007HP:0034042Dorsal hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001007HP:0009747Lumbosacral hirsutism2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001007HP:0034042Dorsal hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001007HP:0009747Lumbosacral hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001007HP:0009937Facial hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001007HP:0009937Facial hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0001007HP:0034042Dorsal hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001007HP:0009747Lumbosacral hirsutism2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0001007HP:0009937Facial hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001007HP:0009747Lumbosacral hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001007HP:0034042Dorsal hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001007HP:0009747Lumbosacral hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001007HP:0034042Dorsal hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001007HP:0009937Facial hirsutism2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001007HP:0034042Dorsal hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001007HP:0009747Lumbosacral hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001007HP:0009937Facial hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001007HP:0009937Facial hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001007HP:0034042Dorsal hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001007HP:0009747Lumbosacral hirsutism2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001007HP:0009937Facial hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001007HP:0009937Facial hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001007HP:0009747Lumbosacral hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001007HP:0034042Dorsal hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001007HP:0009747Lumbosacral hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001007HP:0034042Dorsal hirsutism2BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001007HP:0034042Dorsal hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0001007HP:0009747Lumbosacral hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0001007HP:0009937Facial hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0001007HP:0009937Facial hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0001007HP:0009747Lumbosacral hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0001007HP:0034042Dorsal hirsutism2BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0001007HP:0009937Facial hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001007HP:0034042Dorsal hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001007HP:0009747Lumbosacral hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001007HP:0034042Dorsal hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001007HP:0009747Lumbosacral hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001007HP:0009937Facial hirsutism2BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001007HP:0009747Lumbosacral hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001007HP:0009937Facial hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001007HP:0009937Facial hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001007HP:0034042Dorsal hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001007HP:0009747Lumbosacral hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001007HP:0034042Dorsal hirsutism2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001007HP:0034042Dorsal hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0001007HP:0009747Lumbosacral hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0001007HP:0009937Facial hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0001007HP:0009937Facial hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0001007HP:0034042Dorsal hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0001007HP:0009747Lumbosacral hirsutism2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0001007HP:0009937Facial hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001007HP:0034042Dorsal hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001007HP:0009747Lumbosacral hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001007HP:0034042Dorsal hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001007HP:0009747Lumbosacral hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001007HP:0009937Facial hirsutism2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001007HP:0009937Facial hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001007HP:0009937Facial hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001007HP:0034042Dorsal hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001007HP:0009747Lumbosacral hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0001007HP:0034042Dorsal hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001007HP:0009747Lumbosacral hirsutism2CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0001007HP:0034042Dorsal hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001007HP:0009747Lumbosacral hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001007HP:0009937Facial hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001007HP:0009937Facial hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001007HP:0034042Dorsal hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001007HP:0009747Lumbosacral hirsutism2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001007HP:0009937Facial hirsutism2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001007HP:0034042Dorsal hirsutism2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001007HP:0009747Lumbosacral hirsutism2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001007HP:0034042Dorsal hirsutism2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001007HP:0009747Lumbosacral hirsutism2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001007HP:0009937Facial hirsutism2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001007HP:0009937Facial hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001007HP:0034042Dorsal hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001007HP:0009747Lumbosacral hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001007HP:0034042Dorsal hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001007HP:0009747Lumbosacral hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001007HP:0009937Facial hirsutism2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001007HP:0034042Dorsal hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001007HP:0009747Lumbosacral hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001007HP:0009937Facial hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001007HP:0009937Facial hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001007HP:0034042Dorsal hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001007HP:0009747Lumbosacral hirsutism2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001007HP:0034042Dorsal hirsutism2FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0001007HP:0009747Lumbosacral hirsutism2FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0001007HP:0009937Facial hirsutism2FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0001007HP:0009937Facial hirsutism2FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0001007HP:0034042Dorsal hirsutism2FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0001007HP:0009747Lumbosacral hirsutism2FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0001007HP:0034042Dorsal hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM14663689176943
HP:0001007HP:0009747Lumbosacral hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM14663689176943
HP:0001007HP:0009937Facial hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15013689176943
HP:0001007HP:0009937Facial hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM14663689176943
HP:0001007HP:0034042Dorsal hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15013689176943
HP:0001007HP:0009747Lumbosacral hirsutism2FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15013689176943
HP:0001007HP:0034042Dorsal hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0001007HP:0009747Lumbosacral hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0001007HP:0009937Facial hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0001007HP:0009937Facial hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0001007HP:0034042Dorsal hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0001007HP:0009747Lumbosacral hirsutism2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0001007HP:0009937Facial hirsutism2FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0034042Dorsal hirsutism2FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001007HP:0009747Lumbosacral hirsutism2FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001007HP:0034042Dorsal hirsutism2FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0009747Lumbosacral hirsutism2FRMD4A CL E G H55691466688ORPHA15725491616305
HP:0001007HP:0009937Facial hirsutism2FRMD4A CL E G H55691466688ORPHA15825491616305
HP:0001007HP:0009937Facial hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15825491616305
HP:0001007HP:0009937Facial 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 ataxia616819C4225193OMIM15825491616305
HP:0001007HP:0034042Dorsal hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15825491616305
HP:0001007HP:0009747Lumbosacral hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0034042Dorsal hirsutism2FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001007HP:0009937Facial hirsutism2FSHR CL E G H249264739ORPHA11653969136435
HP:0001007HP:0034042Dorsal hirsutism2FSHR CL E G H249264739ORPHA11703969136435
HP:0001007HP:0009747Lumbosacral hirsutism2FSHR CL E G H249264739ORPHA11703969136435
HP:0001007HP:0034042Dorsal hirsutism2FSHR CL E G H249264739ORPHA11653969136435
HP:0001007HP:0009747Lumbosacral hirsutism2FSHR CL E G H249264739ORPHA11653969136435
HP:0001007HP:0009937Facial hirsutism2FSHR CL E G H249264739ORPHA11703969136435
HP:0001007HP:0009937Facial hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001007HP:0034042Dorsal hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001007HP:0009747Lumbosacral hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001007HP:0034042Dorsal hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001007HP:0009747Lumbosacral hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001007HP:0009937Facial hirsutism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001007HP:0009937Facial hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001007HP:0034042Dorsal hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001007HP:0009747Lumbosacral hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001007HP:0009747Lumbosacral hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001007HP:0034042Dorsal hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001007HP:0009937Facial hirsutism2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001007HP:0034042Dorsal hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM1974795138090
HP:0001007HP:0009747Lumbosacral hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM1974795138090
HP:0001007HP:0009937Facial hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11184795138090
HP:0001007HP:0009937Facial hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM1974795138090
HP:0001007HP:0034042Dorsal hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11184795138090
HP:0001007HP:0009747Lumbosacral hirsutism2H6PD CL E G H9563604931Cortisone reductase deficiency 1604931C3551716OMIM11184795138090
HP:0001007HP:0034042Dorsal hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001007HP:0009747Lumbosacral hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001007HP:0009937Facial hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001007HP:0009937Facial hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001007HP:0009747Lumbosacral hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001007HP:0034042Dorsal hirsutism2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001007HP:0034042Dorsal hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001007HP:0009747Lumbosacral hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001007HP:0009937Facial hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001007HP:0009937Facial hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001007HP:0034042Dorsal hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001007HP:0009747Lumbosacral hirsutism2IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001007HP:0009937Facial hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001007HP:0034042Dorsal hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001007HP:0009747Lumbosacral hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001007HP:0034042Dorsal hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001007HP:0009747Lumbosacral hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001007HP:0009937Facial hirsutism2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001007HP:0034042Dorsal hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001007HP:0009747Lumbosacral hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001007HP:0009937Facial hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001007HP:0009937Facial hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001007HP:0034042Dorsal hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001007HP:0009747Lumbosacral hirsutism2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001007HP:0034042Dorsal hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001007HP:0009747Lumbosacral hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001007HP:0009937Facial hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001007HP:0009937Facial hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001007HP:0034042Dorsal hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001007HP:0009747Lumbosacral hirsutism2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001007HP:0009937Facial hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001007HP:0034042Dorsal hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001007HP:0009747Lumbosacral hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001007HP:0009747Lumbosacral hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001007HP:0034042Dorsal hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001007HP:0009937Facial hirsutism2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001007HP:0034042Dorsal hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0001007HP:0009747Lumbosacral hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0001007HP:0009937Facial hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0001007HP:0009937Facial hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0001007HP:0034042Dorsal hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0001007HP:0009747Lumbosacral hirsutism2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0001007HP:0009937Facial hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001007HP:0034042Dorsal hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001007HP:0009747Lumbosacral hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001007HP:0009747Lumbosacral hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001007HP:0034042Dorsal hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001007HP:0009937Facial hirsutism2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001007HP:0034042Dorsal hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0001007HP:0009747Lumbosacral hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0001007HP:0009937Facial hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0001007HP:0009937Facial hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0001007HP:0009747Lumbosacral hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0001007HP:0034042Dorsal hirsutism2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0001007HP:0009937Facial hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001007HP:0034042Dorsal hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001007HP:0009747Lumbosacral hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001007HP:0009747Lumbosacral hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001007HP:0034042Dorsal hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001007HP:0009937Facial hirsutism2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001007HP:0034042Dorsal hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001007HP:0009747Lumbosacral hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001007HP:0009937Facial hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001007HP:0009937Facial hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001007HP:0034042Dorsal hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001007HP:0009747Lumbosacral hirsutism2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001007HP:0034042Dorsal hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001007HP:0009747Lumbosacral hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001007HP:0034042Dorsal hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001007HP:0009747Lumbosacral hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001007HP:0009937Facial hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0001007HP:0009937Facial hirsutism2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0001007HP:0009937Facial hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001007HP:0009937Facial hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001007HP:0009747Lumbosacral hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001007HP:0034042Dorsal hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001007HP:0009747Lumbosacral hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001007HP:0034042Dorsal hirsutism2NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001007HP:0009937Facial hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11767978138040
HP:0001007HP:0034042Dorsal hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11847978138040
HP:0001007HP:0009747Lumbosacral hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11847978138040
HP:0001007HP:0034042Dorsal hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11767978138040
HP:0001007HP:0009747Lumbosacral hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11767978138040
HP:0001007HP:0009937Facial hirsutism2NR3C1 CL E G H2908786Arthrogryposis multiplex congenita distalORPHA11847978138040
HP:0001007HP:0034042Dorsal hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11847978138040
HP:0001007HP:0009747Lumbosacral hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11847978138040
HP:0001007HP:0034042Dorsal hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11767978138040
HP:0001007HP:0009747Lumbosacral hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11767978138040
HP:0001007HP:0009937Facial hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11847978138040
HP:0001007HP:0009937Facial hirsutism2NR3C1 CL E G H2908615962Glucocorticoid resistance, generalized615962C1841972OMIM11767978138040
HP:0001007HP:0034042Dorsal hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001007HP:0009747Lumbosacral hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001007HP:0009937Facial hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001007HP:0009937Facial hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM16472567300170
HP:0001007HP:0034042Dorsal hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001007HP:0009747Lumbosacral hirsutism2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM17232567300170
HP:0001007HP:0009937Facial hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0001007HP:0009747Lumbosacral hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0001007HP:0034042Dorsal hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0001007HP:0009747Lumbosacral hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0001007HP:0034042Dorsal hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0001007HP:0009937Facial hirsutism2PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0001007HP:0009747Lumbosacral hirsutism2PLAA CL E G H9373521426ORPHA1969043603873
HP:0001007HP:0034042Dorsal hirsutism2PLAA CL E G H9373521426ORPHA1969043603873
HP:0001007HP:0009937Facial hirsutism2PLAA CL E G H9373521426ORPHA12229043603873
HP:0001007HP:0009937Facial hirsutism2PLAA CL E G H9373521426ORPHA1969043603873
HP:0001007HP:0009747Lumbosacral hirsutism2PLAA CL E G H9373521426ORPHA12229043603873
HP:0001007HP:0034042Dorsal hirsutism2PLAA CL E G H9373521426ORPHA12229043603873
HP:0001007HP:0009937Facial hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0001007HP:0034042Dorsal hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0001007HP:0009747Lumbosacral hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0001007HP:0034042Dorsal hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0001007HP:0009747Lumbosacral hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0001007HP:0009937Facial hirsutism2PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
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 hirsutism2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0001007HP:0009747Lumbosacral hirsutism2PRKAR1A CL E G H55731359ORPHA16239388188830
HP:0001007HP:0034042Dorsal hirsutism2PRKAR1A CL E G H55731359ORPHA16239388188830
HP:0001007HP:0009937Facial hirsutism2PRKAR1A CL E G H55731359ORPHA17259388188830
HP:0001007HP:0009937Facial hirsutism2PRKAR1A CL E G H55731359ORPHA16239388188830
HP:0001007HP:0009747Lumbosacral hirsutism2PRKAR1A CL E G H55731359ORPHA17259388188830
HP:0001007HP:0034042Dorsal hirsutism2PRKAR1A CL E G H55731359ORPHA17259388188830
HP:0001007HP:0034042Dorsal hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001007HP:0009747Lumbosacral hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001007HP:0009937Facial hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001007HP:0009937Facial hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001007HP:0034042Dorsal hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001007HP:0009747Lumbosacral hirsutism2PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001007HP:0009937Facial hirsutism2RIN2 CL E G H54453217335ORPHA122918750610222
HP:0001007HP:0034042Dorsal hirsutism2RIN2 CL E G H54453217335ORPHA127318750610222
HP:0001007HP:0009747Lumbosacral hirsutism2RIN2 CL E G H54453217335ORPHA127318750610222
HP:0001007HP:0034042Dorsal hirsutism2RIN2 CL E G H54453217335ORPHA122918750610222
HP:0001007HP:0009747Lumbosacral hirsutism2RIN2 CL E G H54453217335ORPHA122918750610222
HP:0001007HP:0009937Facial hirsutism2RIN2 CL E G H54453217335ORPHA127318750610222
HP:0001007HP:0034042Dorsal hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0001007HP:0009747Lumbosacral hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0001007HP:0034042Dorsal hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0001007HP:0009747Lumbosacral hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0001007HP:0009937Facial hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM174218420612778
HP:0001007HP:0009937Facial hirsutism2SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM170218420612778
HP:0001007HP:0034042Dorsal hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001007HP:0009747Lumbosacral hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001007HP:0009937Facial hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001007HP:0009937Facial hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001007HP:0034042Dorsal hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001007HP:0009747Lumbosacral hirsutism2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001007HP:0009937Facial hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0001007HP:0034042Dorsal hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0001007HP:0009747Lumbosacral hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0001007HP:0034042Dorsal hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0001007HP:0009747Lumbosacral hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0001007HP:0009937Facial hirsutism2SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0001007HP:0009937Facial hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0001007HP:0034042Dorsal hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0001007HP:0009747Lumbosacral hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0001007HP:0034042Dorsal hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0001007HP:0009747Lumbosacral hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0001007HP:0009937Facial hirsutism2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0001007HP:0009937Facial hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0001007HP:0034042Dorsal hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0001007HP:0009747Lumbosacral hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0001007HP:0034042Dorsal hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0001007HP:0009747Lumbosacral hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0001007HP:0009937Facial hirsutism2SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0001007HP:0009937Facial hirsutism2SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM132016974611421
HP:0001007HP:0034042Dorsal hirsutism2SRCAP CL E G H10847136140Floating-Harbor syndrome136140