Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal hair quantity (HP:0011362)

Parent Node:
Hirsutism (HP:0001007)

..Starting node
..Generalized hirsutism (HP:0002230)

Term ID:

2230

Name:

Generalized hirsutism

Synonym:

Excessive hairiness over body; Generalised hirsutism

Definition:

Abnormally increased hair growth over much of the entire body.

Comments:

Reference:

HP:0002230

Genes and Diseases:

Child Nodes:

Sister Nodes:

Localized hirsutism (HP:0009889)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002230	HP:0002230	Generalized hirsutism	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent	1
HP:0002230	HP:0002230	Generalized hirsutism	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0002230	HP:0002230	Generalized hirsutism	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0002230	HP:0002230	Generalized hirsutism	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0002230	HP:0002230	Generalized hirsutism	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	29
HP:0002230	HP:0002230	Generalized hirsutism	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent	166
HP:0002230	HP:0002230	Generalized hirsutism	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	114
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	118
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	71
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	97
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	87
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	25
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	66
HP:0002230	HP:0002230	Generalized hirsutism	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	119
HP:0002230	HP:0002230	Generalized hirsutism	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0002230	HP:0002230	Generalized hirsutism	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0002230	HP:0002230	Generalized hirsutism	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0002230	HP:0002230	Generalized hirsutism	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0002230	HP:0002230	Generalized hirsutism	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	342
HP:0002230	HP:0002230	Generalized hirsutism	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional	50
HP:0002230	HP:0002230	Generalized hirsutism	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent	60
HP:0002230	HP:0002230	Generalized hirsutism	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040282 - Frequent	3
HP:0002230	HP:0002230	Generalized hirsutism	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0002230	HP:0002230	Generalized hirsutism	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	68
HP:0002230	HP:0002230	Generalized hirsutism	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	74
HP:0002230	HP:0002230	Generalized hirsutism	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	12
HP:0002230	HP:0002230	Generalized hirsutism	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0002230	HP:0002230	Generalized hirsutism	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0002230	HP:0002230	Generalized hirsutism	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0002230	HP:0002230	Generalized hirsutism	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0002230	HP:0002230	Generalized hirsutism	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0002230	HP:0002230	Generalized hirsutism	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0002230	HP:0002230	Generalized hirsutism	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0002230	HP:0002230	Generalized hirsutism	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040283 - Occasional	115
HP:0002230	HP:0002230	Generalized hirsutism	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	48
HP:0002230	HP:0002230	Generalized hirsutism	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0002230	HP:0002230	Generalized hirsutism	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	3
HP:0002230	HP:0002230	Generalized hirsutism	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent	229
HP:0002230	HP:0002230	Generalized hirsutism	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040281 - Very frequent	99
HP:0002230	HP:0002230	Generalized hirsutism	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0002230	HP:0002230	Generalized hirsutism	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0002230	HP:0002230	Generalized hirsutism	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	4
HP:0002230	HP:0002230	Generalized hirsutism	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0002230	HP:0002230	Generalized hirsutism	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0002230	HP:0002230	Generalized hirsutism	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0002230	HP:0002230	Generalized hirsutism	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional	11
HP:0002230	HP:0002230	Generalized hirsutism	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	4
HP:0002230	HP:0002230	Generalized hirsutism	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0002230	HP:0002230	Generalized hirsutism	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0002230	HP:0002230	Generalized hirsutism	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0002230	HP:0002230	Generalized hirsutism	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040282 - Frequent	124
HP:0002230	HP:0002230	Generalized hirsutism	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	69
HP:0002230	HP:0002230	Generalized hirsutism	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	127
HP:0002230	HP:0002230	Generalized hirsutism	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0002230	HP:0002230	Generalized hirsutism	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0002230	HP:0002230	Generalized hirsutism	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002230	HP:0002230	Generalized hirsutism	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	85
HP:0002230	HP:0002230	Generalized hirsutism	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040282 - Frequent	102
HP:0002230	HP:0002230	Generalized hirsutism	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0002230	HP:0002230	Generalized hirsutism	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0002230	HP:0002230	Generalized hirsutism	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0002230	HP:0002230	Generalized hirsutism	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002230	HP:0002230	Generalized hirsutism	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0002230	HP:0002230	Generalized hirsutism	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0002230	HP:0002230	Generalized hirsutism	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0002230	HP:0002230	Generalized hirsutism	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0002230	HP:0002230	Generalized hirsutism	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0002230	HP:0002230	Generalized hirsutism	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0002230	HP:0002230	Generalized hirsutism	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	61
HP:0002230	HP:0002230	Generalized hirsutism	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0002230	HP:0002230	Generalized hirsutism	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0002230	HP:0002230	Generalized hirsutism	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0002230	HP:0002230	Generalized hirsutism	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0002230	HP:0002230	Generalized hirsutism	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0002230	HP:0002230	Generalized hirsutism	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0002230	HP:0002230	Generalized hirsutism	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent	22
HP:0002230	HP:0002230	Generalized hirsutism	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0002230	HP:0002230	Generalized hirsutism	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0002230	HP:0002230	Generalized hirsutism	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0002230	HP:0002230	Generalized hirsutism	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	108
HP:0002230	HP:0002230	Generalized hirsutism	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	41
HP:0002230	HP:0002230	Generalized hirsutism	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0002230	HP:0002230	Generalized hirsutism	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0002230	HP:0002230	Generalized hirsutism	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0002230	HP:0002230	Generalized hirsutism	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0002230	HP:0002230	Generalized hirsutism	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002230	HP:0002230	Generalized hirsutism	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	60

Genes (89) :ABCA5 ABCC9 AIP AKT1 ARL6 ARX BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BRD4 BSCL2 CASZ1 CEP19 CEP290 CFAP418 CTSC CYP19A1 ELMO2 GABRD GJA1 GJB3 GJB4 GNE GPR101 HDAC8 HSPG2 IDUA IFT172 IFT27 IFT74 INSR IRF6 KCNAB2 KCNJ8 KDSR KMT2A LMNA LMNB2 LUZP1 LZTFL1 MAPK1 MAPRE2 MBD5 MC1R MKKS MKS1 MMP23B NFIX NIPBL NOTCH2 NPHP1 NRAS PDPN PEPD PPARG PRDM16 PRKCZ PRKG2 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RERE SCAPER SDCCAG8 SKI SLC25A12 SLC25A24 SMC1A SMC3 SMO SPEN SUCLA2 TBC1D20 TRIM32 TTC8 TUBB TWIST1 TWIST2 UBE2A UBE4B WDPCP

Diseases (42) :ORPHA:2026 ORPHA:1517 ORPHA:963 ORPHA:744 ORPHA:110 ORPHA:2508 ORPHA:199 ORPHA:363400 ORPHA:1606 ORPHA:678 ORPHA:91 ORPHA:3019 ORPHA:317 OMIM:269921 ORPHA:800 OMIM:255800 ORPHA:93473 ORPHA:93476 ORPHA:2297 ORPHA:1300 ORPHA:319182 ORPHA:280365 ORPHA:2348 ORPHA:79087 OMIM:619087 ORPHA:2505 ORPHA:228402 ORPHA:626 ORPHA:561 ORPHA:955 ORPHA:742 ORPHA:79083 OMIM:619636 ORPHA:2510 OMIM:612949 ORPHA:2095 ORPHA:2963 ORPHA:1553 ORPHA:1933 OMIM:617746 ORPHA:1231 ORPHA:163956

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

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