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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001007HP:0001007Hirsutism0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040281 - Very frequent1
HP:0001007HP:0001007Hirsutism0ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia.1
HP:0001007HP:0001007Hirsutism0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0001007HP:0001007Hirsutism0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0001007HP:0001007Hirsutism0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0001007HP:0001007Hirsutism0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0001007HP:0001007Hirsutism0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0001007HP:0001007Hirsutism0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0001007HP:0001007Hirsutism0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0001007HP:0001007Hirsutism0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0001007HP:0001007Hirsutism0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0001007HP:0001007Hirsutism0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0001007HP:0001007Hirsutism0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0001007HP:0001007Hirsutism0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0001007HP:0001007Hirsutism0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0001007HP:0001007Hirsutism0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001007HP:0001007Hirsutism0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0001007HP:0001007Hirsutism0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0001007HP:0001007Hirsutism0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001007HP:0001007Hirsutism0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0001007HP:0001007Hirsutism0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0001007HP:0001007Hirsutism0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0001007HP:0001007Hirsutism0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0001007HP:0001007Hirsutism0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001007HP:0001007Hirsutism0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001007HP:0001007Hirsutism0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0001007HP:0001007Hirsutism0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001007HP:0001007Hirsutism0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0001007HP:0001007Hirsutism0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0001007HP:0001007Hirsutism0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001007HP:0001007Hirsutism0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0001007HP:0001007Hirsutism0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0001007HP:0001007Hirsutism0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0001007HP:0001007Hirsutism0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0001007HP:0001007Hirsutism0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0001007HP:0001007Hirsutism0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0001007HP:0001007Hirsutism0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0001007HP:0001007Hirsutism0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0001007HP:0001007Hirsutism0BMP15 CL E G H92101068OMIM:300510Ovarian dysgenesis 2.16
HP:0001007HP:0001007Hirsutism0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001007HP:0001007Hirsutism0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0001007HP:0001007Hirsutism0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001007HP:0001007Hirsutism0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0001007HP:0001007Hirsutism0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0001007HP:0001007Hirsutism0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001007HP:0001007Hirsutism0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0001007HP:0001007Hirsutism0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0001007HP:0001007Hirsutism0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4HP:0040283 - Occasional48
HP:0001007HP:0001007Hirsutism0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0001007HP:0001007Hirsutism0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001007HP:0001007Hirsutism0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001007HP:0001007Hirsutism0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0001007HP:0001007Hirsutism0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0001007HP:0001007Hirsutism0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0001007HP:0001007Hirsutism0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0001007HP:0001007Hirsutism0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0001007HP:0001007Hirsutism0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001007HP:0001007Hirsutism0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0001007HP:0001007Hirsutism0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001007HP:0001007Hirsutism0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001007HP:0001007Hirsutism0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0001007HP:0001007Hirsutism0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001007HP:0001007Hirsutism0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0001007HP:0001007Hirsutism0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040282 - Frequent112
HP:0001007HP:0001007Hirsutism0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0001007HP:0001007Hirsutism0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001007HP:0001007Hirsutism0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001007HP:0001007Hirsutism0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndrome3
HP:0001007HP:0001007Hirsutism0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001007HP:0001007Hirsutism0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001007HP:0001007Hirsutism0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2HP:0040284 - Very rare250
HP:0001007HP:0001007Hirsutism0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0001007HP:0001007Hirsutism0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0001007HP:0001007Hirsutism0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0001007HP:0001007Hirsutism0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0001007HP:0001007Hirsutism0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0001007HP:0001007Hirsutism0FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndromeHP:0040281 - Very frequent50
HP:0001007HP:0001007Hirsutism0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1HP:0040284 - Very rare3
HP:0001007HP:0001007Hirsutism0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0001007HP:0001007Hirsutism0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linkedHP:0040283 - Occasional29
HP:0001007HP:0001007Hirsutism0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0001007HP:0001007Hirsutism0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0001007HP:0001007Hirsutism0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0001007HP:0001007Hirsutism0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0001007HP:0001007Hirsutism0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001007HP:0001007Hirsutism0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0001007HP:0001007Hirsutism0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001007HP:0001007Hirsutism0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0001007HP:0001007Hirsutism0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0001007HP:0001007Hirsutism0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0001007HP:0001007Hirsutism0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0001007HP:0001007Hirsutism0H6PD CL E G H95634795OMIM:604931Cortisone reductase deficiency 1.8
HP:0001007HP:0001007Hirsutism0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0001007HP:0001007Hirsutism0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0001007HP:0001007Hirsutism0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0001007HP:0001007Hirsutism0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0001007HP:0001007Hirsutism0HNRNPR CL E G H102365047OMIM:620073
HP:0001007HP:0001007Hirsutism0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040283 - Occasional34
HP:0001007HP:0001007Hirsutism0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0001007HP:0001007Hirsutism0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0001007HP:0001007Hirsutism0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0001007HP:0001007Hirsutism0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0001007HP:0001007Hirsutism0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0001007HP:0001007Hirsutism0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0001007HP:0001007Hirsutism0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0001007HP:0001007Hirsutism0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndrome115
HP:0001007HP:0001007Hirsutism0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0001007HP:0001007Hirsutism0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0001007HP:0001007Hirsutism0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0001007HP:0001007Hirsutism0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type A229
HP:0001007HP:0001007Hirsutism0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0001007HP:0001007Hirsutism0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001007HP:0001007Hirsutism0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndrome99
HP:0001007HP:0001007Hirsutism0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0001007HP:0001007Hirsutism0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0001007HP:0001007Hirsutism0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0001007HP:0001007Hirsutism0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001007HP:0001007Hirsutism0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001007HP:0001007Hirsutism0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0001007HP:0001007Hirsutism0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0001007HP:0001007Hirsutism0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001007HP:0001007Hirsutism0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0001007HP:0001007Hirsutism0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan type645
HP:0001007HP:0001007Hirsutism0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0001007HP:0001007Hirsutism0LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophy11
HP:0001007HP:0001007Hirsutism0LMNB2 CL E G H848236638OMIM:608709Lipodystrophy, partial, acquired, susceptibility to.11
HP:0001007HP:0001007Hirsutism0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001007HP:0001007Hirsutism0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0001007HP:0001007Hirsutism0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0001007HP:0001007Hirsutism0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0001007HP:0001007Hirsutism0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001007HP:0001007Hirsutism0MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 6HP:0040283 - Occasional13
HP:0001007HP:0001007Hirsutism0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0001007HP:0001007Hirsutism0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001007HP:0001007Hirsutism0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0001007HP:0001007Hirsutism0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0001007HP:0001007Hirsutism0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevus124
HP:0001007HP:0001007Hirsutism0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001007HP:0001007Hirsutism0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIaHP:0040283 - Occasional39
HP:0001007HP:0001007Hirsutism0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0001007HP:0001007Hirsutism0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0001007HP:0001007Hirsutism0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0001007HP:0001007Hirsutism0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040281 - Very frequent2
HP:0001007HP:0001007Hirsutism0MMP14 CL E G H43237160OMIM:277950Winchester syndrome2
HP:0001007HP:0001007Hirsutism0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0001007HP:0001007Hirsutism0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040281 - Very frequent64
HP:0001007HP:0001007Hirsutism0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0001007HP:0001007Hirsutism0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040282 - Frequent37
HP:0001007HP:0001007Hirsutism0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0001007HP:0001007Hirsutism0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0001007HP:0001007Hirsutism0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndrome40
HP:0001007HP:0001007Hirsutism0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0001007HP:0001007Hirsutism0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0001007HP:0001007Hirsutism0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional2
HP:0001007HP:0001007Hirsutism0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0001007HP:0001007Hirsutism0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0001007HP:0001007Hirsutism0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndromeHP:0040281 - Very frequent79
HP:0001007HP:0001007Hirsutism0NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized.79
HP:0001007HP:0001007Hirsutism0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevus102
HP:0001007HP:0001007Hirsutism0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10.201
HP:0001007HP:0001007Hirsutism0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001007HP:0001007Hirsutism0PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes.20
HP:0001007HP:0001007Hirsutism0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0001007HP:0001007Hirsutism0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0001007HP:0001007Hirsutism0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0001007HP:0001007Hirsutism0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0001007HP:0001007Hirsutism0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001007HP:0001007Hirsutism0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0001007HP:0001007Hirsutism0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0001007HP:0001007Hirsutism0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001007HP:0001007Hirsutism0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0001007HP:0001007Hirsutism0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040282 - Frequent76
HP:0001007HP:0001007Hirsutism0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0001007HP:0001007Hirsutism0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0001007HP:0001007Hirsutism0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001007HP:0001007Hirsutism0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0001007HP:0001007Hirsutism0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0001007HP:0001007Hirsutism0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0001007HP:0001007Hirsutism0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0001007HP:0001007Hirsutism0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0001007HP:0001007Hirsutism0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001007HP:0001007Hirsutism0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0001007HP:0001007Hirsutism0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0001007HP:0001007Hirsutism0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0001007HP:0001007Hirsutism0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0001007HP:0001007Hirsutism0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0001007HP:0001007Hirsutism0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0001007HP:0001007Hirsutism0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0001007HP:0001007Hirsutism0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001007HP:0001007Hirsutism0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0001007HP:0001007Hirsutism0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001007HP:0001007Hirsutism0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0001007HP:0001007Hirsutism0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0001007HP:0001007Hirsutism0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0001007HP:0001007Hirsutism0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0001007HP:0001007Hirsutism0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0001007HP:0001007Hirsutism0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0001007HP:0001007Hirsutism0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0001007HP:0001007Hirsutism0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001007HP:0001007Hirsutism0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndrome
HP:0001007HP:0001007Hirsutism0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0001007HP:0001007Hirsutism0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0001007HP:0001007Hirsutism0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4617
HP:0001007HP:0001007Hirsutism0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0001007HP:0001007Hirsutism0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0001007HP:0001007Hirsutism0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0001007HP:0001007Hirsutism0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001007HP:0001007Hirsutism0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001007HP:0001007Hirsutism0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0001007HP:0001007Hirsutism0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0001007HP:0001007Hirsutism0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0001007HP:0001007Hirsutism0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001007HP:0001007Hirsutism0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0001007HP:0001007Hirsutism0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0001007HP:0001007Hirsutism0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0001007HP:0001007Hirsutism0SMO CL E G H660811119OMIM:601707Curry-Jones syndromeHP:0040283 - Occasional22
HP:0001007HP:0001007Hirsutism0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0001007HP:0001007Hirsutism0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001007HP:0001007Hirsutism0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0001007HP:0001007Hirsutism0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0001007HP:0001007Hirsutism0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001007HP:0001007Hirsutism0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0001007HP:0001007Hirsutism0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0001007HP:0001007Hirsutism0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001007HP:0001007Hirsutism0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0001007HP:0001007Hirsutism0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001007HP:0001007Hirsutism0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0001007HP:0001007Hirsutism0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001007HP:0001007Hirsutism0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0001007HP:0001007Hirsutism0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0001007HP:0001007Hirsutism0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0001007HP:0001007Hirsutism0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0001007HP:0001007Hirsutism0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001007HP:0001007Hirsutism0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0001007HP:0001007Hirsutism0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0001007HP:0001007Hirsutism0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0001007HP:0001007Hirsutism0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001007HP:0001007Hirsutism0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0001007HP:0001007Hirsutism0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0001007HP:0001007Hirsutism0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome18
HP:0001007HP:0001007Hirsutism0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0001007HP:0001007Hirsutism0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001007HP:0001007Hirsutism0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001007HP:0001007Hirsutism0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0001007HP:0001007Hirsutism0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001007HP:0001007Hirsutism0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001007HP:0001007Hirsutism0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0001007HP:0001007Hirsutism0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001007HP:0001007Hirsutism0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0001007HP:0001007Hirsutism0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0001007HP:0001007Hirsutism0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0001007HP:0001007Hirsutism0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0001007HP:0001007Hirsutism0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001007HP:0001007Hirsutism0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040281 - Very frequent4
HP:0001007HP:0001007Hirsutism0WNT4 CL E G H5436112783OMIM:158330Mullerian aplasia and hyperandrogenismHP:0040281 - Very frequent4
HP:0001007HP:0001007Hirsutism0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040283 - Occasional14
HP:0001007HP:0002230Generalized hirsutism1ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040281 - Very frequent1
HP:0001007HP:0002230Generalized hirsutism1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent254
HP:0001007HP:0009889Localized hirsutism1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0001007HP:0002230Generalized hirsutism1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0001007HP:0002230Generalized hirsutism1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0001007HP:0009889Localized hirsutism1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001007HP:0002230Generalized hirsutism1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional29
HP:0001007HP:0002230Generalized hirsutism1ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040282 - Frequent166
HP:0001007HP:0002230Generalized hirsutism1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0001007HP:0002230Generalized hirsutism1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional114
HP:0001007HP:0002230Generalized hirsutism1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional118
HP:0001007HP:0002230Generalized hirsutism1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional71
HP:0001007HP:0002230Generalized hirsutism1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional97
HP:0001007HP:0002230Generalized hirsutism1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional87
HP:0001007HP:0002230Generalized hirsutism1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional25
HP:0001007HP:0002230Generalized hirsutism1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional66
HP:0001007HP:0002230Generalized hirsutism1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional119
HP:0001007HP:0002230Generalized hirsutism1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0001007HP:0002230Generalized hirsutism1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0001007HP:0002230Generalized hirsutism1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0001007HP:0002230Generalized hirsutism1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0001007HP:0002230Generalized hirsutism1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional342
HP:0001007HP:0002230Generalized hirsutism1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0001007HP:0009889Localized hirsutism1CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0001007HP:0009889Localized hirsutism1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0001007HP:0009889Localized hirsutism1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001007HP:0002230Generalized hirsutism1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0001007HP:0002230Generalized hirsutism1CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040282 - Frequent60
HP:0001007HP:0009889Localized hirsutism1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001007HP:0002230Generalized hirsutism1ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040282 - Frequent3
HP:0001007HP:0009889Localized hirsutism1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001007HP:0009889Localized hirsutism1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0001007HP:0002230Generalized hirsutism1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0001007HP:0002230Generalized hirsutism1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional68
HP:0001007HP:0002230Generalized hirsutism1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional74
HP:0001007HP:0002230Generalized hirsutism1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional12
HP:0001007HP:0002230Generalized hirsutism1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0001007HP:0009889Localized hirsutism1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0001007HP:0002230Generalized hirsutism1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0001007HP:0002230Generalized hirsutism1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0001007HP:0002230Generalized hirsutism1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0001007HP:0002230Generalized hirsutism1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001007HP:0002230Generalized hirsutism1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0001007HP:0002230Generalized hirsutism1IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040283 - Occasional115
HP:0001007HP:0002230Generalized hirsutism1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional48
HP:0001007HP:0002230Generalized hirsutism1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0001007HP:0002230Generalized hirsutism1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional3
HP:0001007HP:0002230Generalized hirsutism1INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type AHP:0040281 - Very frequent229
HP:0001007HP:0002230Generalized hirsutism1IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040281 - Very frequent99
HP:0001007HP:0002230Generalized hirsutism1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0001007HP:0002230Generalized hirsutism1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent23
HP:0001007HP:0002230Generalized hirsutism1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional4
HP:0001007HP:0002230Generalized hirsutism1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0001007HP:0002230Generalized hirsutism1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040283 - Occasional645
HP:0001007HP:0002230Generalized hirsutism1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0001007HP:0002230Generalized hirsutism1LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophyHP:0040283 - Occasional11
HP:0001007HP:0002230Generalized hirsutism1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001007HP:0002230Generalized hirsutism1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional4
HP:0001007HP:0002230Generalized hirsutism1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001007HP:0002230Generalized hirsutism1MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0001007HP:0002230Generalized hirsutism1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0001007HP:0002230Generalized hirsutism1MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040282 - Frequent124
HP:0001007HP:0009889Localized hirsutism1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001007HP:0002230Generalized hirsutism1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional69
HP:0001007HP:0002230Generalized hirsutism1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional127
HP:0001007HP:0002230Generalized hirsutism1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001007HP:0002230Generalized hirsutism1NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0001007HP:0002230Generalized hirsutism1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0001007HP:0002230Generalized hirsutism1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0001007HP:0002230Generalized hirsutism1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional85
HP:0001007HP:0002230Generalized hirsutism1NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040282 - Frequent102
HP:0001007HP:0002230Generalized hirsutism1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001007HP:0009889Localized hirsutism1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001007HP:0002230Generalized hirsutism1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0001007HP:0002230Generalized hirsutism1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0001007HP:0009889Localized hirsutism1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001007HP:0002230Generalized hirsutism1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0001007HP:0002230Generalized hirsutism1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001007HP:0002230Generalized hirsutism1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001007HP:0002230Generalized hirsutism1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0001007HP:0002230Generalized hirsutism1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0001007HP:0002230Generalized hirsutism1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0001007HP:0002230Generalized hirsutism1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0001007HP:0002230Generalized hirsutism1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0001007HP:0002230Generalized hirsutism1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0001007HP:0009889Localized hirsutism1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001007HP:0009889Localized hirsutism1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001007HP:0002230Generalized hirsutism1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0001007HP:0002230Generalized hirsutism1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional61
HP:0001007HP:0002230Generalized hirsutism1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0001007HP:0009889Localized hirsutism1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001007HP:0002230Generalized hirsutism1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001007HP:0002230Generalized hirsutism1SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040281 - Very frequent
HP:0001007HP:0002230Generalized hirsutism1SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0001007HP:0002230Generalized hirsutism1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0001007HP:0002230Generalized hirsutism1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0001007HP:0002230Generalized hirsutism1SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0001007HP:0002230Generalized hirsutism1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0001007HP:0002230Generalized hirsutism1SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0001007HP:0009889Localized hirsutism1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001007HP:0002230Generalized hirsutism1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0001007HP:0009889Localized hirsutism1TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0001007HP:0009889Localized hirsutism1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0001007HP:0002230Generalized hirsutism1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional108
HP:0001007HP:0002230Generalized hirsutism1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional41
HP:0001007HP:0002230Generalized hirsutism1TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0001007HP:0002230Generalized hirsutism1TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0001007HP:0002230Generalized hirsutism1TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0001007HP:0002230Generalized hirsutism1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0001007HP:0002230Generalized hirsutism1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001007HP:0009889Localized hirsutism1WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0001007HP:0002230Generalized hirsutism1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional60
HP:0001007HP:0009889Localized hirsutism1WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0001007HP:0009937Facial hirsutism2AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0001007HP:0009747Lumbosacral hirsutism2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001007HP:0009937Facial hirsutism2CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0001007HP:0009937Facial hirsutism2CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040283 - Occasional72
HP:0001007HP:0009937Facial hirsutism2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001007HP:0009937Facial hirsutism2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001007HP:0009937Facial hirsutism2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001007HP:0009937Facial hirsutism2FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0001007HP:0009937Facial hirsutism2GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0001007HP:0009937Facial hirsutism2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001007HP:0009937Facial hirsutism2PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001007HP:0009937Facial hirsutism2PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001007HP:0034042Dorsal hirsutism2RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001007HP:0009937Facial hirsutism2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001007HP:0009937Facial hirsutism2SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001007HP:0009937Facial hirsutism2TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001007HP:0009937Facial hirsutism2TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0001007HP:0009937Facial hirsutism2TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0001007HP:0034042Dorsal hirsutism2WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0001007HP:0009937Facial hirsutism2WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040281 - Very frequent4
HP:0001007HP:0011335Frontal hirsutism3CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0001007HP:0011335Frontal hirsutism3CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001007HP:0011335Frontal hirsutism3DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001007HP:0011335Frontal hirsutism3EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001007HP:0011335Frontal hirsutism3FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001007HP:0011335Frontal hirsutism3MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001007HP:0011335Frontal hirsutism3RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0001007HP:0011335Frontal hirsutism3SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001007HP:0011335Frontal hirsutism3TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS


Genes (210) :ABCA5 ABCC9 ADAMTS2 ADNP AFF4 AGPAT2 AIMP2 AIP AKT1 ALMS1 ARID1A ARID1B ARID2 ARL6 ARMC5 ARSB ARX ASXL1 ASXL3 ATP6V1B2 ATRX BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11B BMP15 BRAF BRD4 BSCL2 CACNA1G CAPN15 CASZ1 CAV1 CAVIN1 CCBE1 CCDC28B CDH23 CDK5 CEP19 CEP290 CFAP418 CKAP2L CLN3 CNOT2 CNP COPB1 CPOX CREBBP CTSC CYP11B1 CYP19A1 DLK1 DPF2 ELMO2 EMC10 EP300 ERCC6 FGFR2 FLNA FRMD4A FSHR FUT8 GABRD GATA1 GJA1 GJB3 GJB4 GLB1 GLI3 GNAS GNB2 GNE GNS GPR101 GUSB H6PD HDAC8 HGSNAT HIVEP2 HNRNPR HSD3B2 HSPG2 IDUA IFT172 IFT27 IFT74 INSR IPO8 IRF6 KCNAB2 KCNH1 KCNJ8 KDM6A KDSR KMT2A KMT2D LMNA LMNB2 LRPPRC LUZP1 LZTFL1 MAB21L1 MAP1B MAP3K1 MAP3K7 MAPK1 MAPRE2 MBD5 MC1R MEG3 MGAT2 MKKS MKS1 MMP14 MMP2 MMP23B MOGS NAGLU NANS NFIX NIPBL NKX6-2 NOTCH2 NPHP1 NR3C1 NRAS OFD1 OTUD5 PAPSS2 PDE11A PDE8B PDPN PEPD PLAA POLR3A POR PPARG PPP1R21 PRDM16 PRKACA PRKAR1A PRKCZ PRKG2 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RERE RIN2 RPL10 RTL1 SCAPER SDCCAG8 SETBP1 SETD2 SGSH SHROOM4 SKI SLC25A12 SLC25A24 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMO SOX11 SOX4 SOX6 SPEN SRCAP SUCLA2 TAF1 TAF6 TASP1 TBC1D20 TBCD TBCK TBX15 TOE1 TP53 TP63 TRIM32 TRIO TTC5 TTC8 TUBB TWIST1 TWIST2 UBE2A UBE4B USP48 USP8 VPS33A WAC WASHC4 WDPCP WDR81 WNT4 XYLT1

Diseases (181) :ORPHA:2026 OMIM:135400 ORPHA:1517 OMIM:225410 ORPHA:404448 ORPHA:444077 OMIM:608594 OMIM:618006 ORPHA:963 OMIM:219090 ORPHA:744 ORPHA:64 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:110 OMIM:209900 ORPHA:189427 OMIM:253200 ORPHA:2508 OMIM:300004 OMIM:605039 OMIM:615485 OMIM:616455 ORPHA:96253 OMIM:617237 OMIM:300510 ORPHA:199 OMIM:269700 ORPHA:363400 OMIM:618087 OMIM:619318 ORPHA:1606 OMIM:612526 OMIM:613327 OMIM:235510 OMIM:616342 OMIM:272440 ORPHA:228346 OMIM:618608 OMIM:619071 OMIM:619255 ORPHA:79273 OMIM:180849 ORPHA:678 ORPHA:90795 ORPHA:91 ORPHA:96334 ORPHA:3019 OMIM:619264 OMIM:613684 OMIM:214150 OMIM:614592 ORPHA:313855 OMIM:305620 OMIM:309350 OMIM:616819 ORPHA:466688 ORPHA:64739 OMIM:618005 OMIM:314050 ORPHA:317 ORPHA:79255 OMIM:175700 OMIM:619503 OMIM:269921 OMIM:252940 OMIM:253220 OMIM:604931 OMIM:300882 OMIM:252930 OMIM:616977 OMIM:620073 ORPHA:90791 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:607014 ORPHA:93473 OMIM:607015 ORPHA:93476 ORPHA:2297 ORPHA:769 OMIM:619472 ORPHA:1300 OMIM:135500 OMIM:147920 OMIM:300867 ORPHA:319182 ORPHA:280365 ORPHA:2348 OMIM:151660 ORPHA:79087 OMIM:608709 OMIM:220111 OMIM:618479 OMIM:618918 OMIM:613762 OMIM:617137 OMIM:619087 ORPHA:2505 ORPHA:228402 ORPHA:626 OMIM:212066 ORPHA:79329 ORPHA:371428 OMIM:277950 OMIM:259600 ORPHA:79330 OMIM:252920 OMIM:610442 ORPHA:561 OMIM:122470 ORPHA:527497 ORPHA:955 OMIM:102500 ORPHA:786 OMIM:615962 OMIM:300804 OMIM:301056 OMIM:612847 ORPHA:1359 ORPHA:189439 OMIM:170100 ORPHA:742 OMIM:617527 ORPHA:521426 ORPHA:3455 ORPHA:95699 OMIM:604367 ORPHA:79083 OMIM:619383 OMIM:615830 OMIM:160980 OMIM:619636 ORPHA:2510 ORPHA:217335 OMIM:300998 ORPHA:459070 OMIM:616078 OMIM:616831 OMIM:252900 ORPHA:85288 OMIM:612949 ORPHA:2095 ORPHA:2963 OMIM:614609 OMIM:614608 OMIM:617475 OMIM:300590 OMIM:301044 OMIM:610759 ORPHA:1553 OMIM:601707 OMIM:618971 OMIM:619312 OMIM:136140 ORPHA:1933 OMIM:300966 OMIM:617126 OMIM:618950 OMIM:615663 ORPHA:496641 ORPHA:488632 OMIM:260660 OMIM:614969 OMIM:604292 OMIM:617061 OMIM:619244 OMIM:617746 ORPHA:1231 OMIM:300860 ORPHA:163956 OMIM:617303 OMIM:616708 ORPHA:466950 OMIM:615817 OMIM:610185 ORPHA:247768 OMIM:158330 ORPHA:370930
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.