Human Phenotype Ontology

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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 morphology (HP:0001595)

Parent Node:
Abnormal hair quantity (HP:0011362)

..Starting node
..Hirsutism (HP:0001007)

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:

........

Generalized hirsutism (HP:0002230)

........

Localized hirsutism (HP:0009889)

................... HP:0009747 Lumbosacral hirsutism
................... HP:0009937 Facial hirsutism

Sister Nodes:

Absent hair (HP:0002298)

Alopecia (HP:0001596)

Anagen effluvium (HP:0025469)

Hypertrichosis (HP:0000998)

Hypotrichosis (HP:0001006)

Telogen effluvium (HP:0025470)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001007	HP:0001007	Hirsutism	0	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1	5	47	35	612503
HP:0001007	HP:0001007	Hirsutism	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	465	218	604539
HP:0001007	HP:0001007	Hirsutism	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	156	325	603100
HP:0001007	HP:0001007	Hirsutism	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	112	233	358	605555
HP:0001007	HP:0001007	Hirsutism	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	207	387	714	611542
HP:0001007	HP:0001007	Hirsutism	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	423	18060	300382
HP:0001007	HP:0001007	Hirsutism	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	254	18318	612990
HP:0001007	HP:0001007	Hirsutism	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	222	966	209901
HP:0001007	HP:0001007	Hirsutism	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	12	56	13222	606558
HP:0001007	HP:0001007	Hirsutism	0	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	28	174	1068	300247
HP:0001007	HP:0001007	Hirsutism	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	224	15832	606158
HP:0001007	HP:0001007	Hirsutism	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	12	153	1394	604065
HP:0001007	HP:0001007	Hirsutism	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	61	1527	601047
HP:0001007	HP:0001007	Hirsutism	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	13	231	29426	612753
HP:0001007	HP:0001007	Hirsutism	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	72	1774	123831
HP:0001007	HP:0001007	Hirsutism	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	674	2348	600140
HP:0001007	HP:0001007	Hirsutism	0	CYP11B1 CL E G H	1584	90795				ORPHA	1	161	270	2591	610613
HP:0001007	HP:0001007	Hirsutism	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	444	3373	602700
HP:0001007	HP:0001007	Hirsutism	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	418	3438	609413
HP:0001007	HP:0001007	Hirsutism	0	FGFR2 CL E G H	2263	313855				ORPHA	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	0	FGFR2 CL E G H	2263	614592	Bent bone dysplasia syndrome	614592	C3281247	OMIM	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	0	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	271	1350	3754	300017
HP:0001007	HP:0001007	Hirsutism	0	FRMD4A CL E G H	55691	466688				ORPHA	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	0	FSHR CL E G H	2492	64739				ORPHA	1	41	88	3969	136435
HP:0001007	HP:0001007	Hirsutism	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	25	110	4422	607664
HP:0001007	HP:0001007	Hirsutism	0	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	66	124	4696	611499
HP:0001007	HP:0001007	Hirsutism	0	H6PD CL E G H	9563	604931	Cortisone reductase deficiency 1	604931	C3551716	OMIM	1	12	93	4795	138090
HP:0001007	HP:0001007	Hirsutism	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	72	249	26527	610453
HP:0001007	HP:0001007	Hirsutism	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	82	6250	603305
HP:0001007	HP:0001007	Hirsutism	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1231	7133	602113
HP:0001007	HP:0001007	Hirsutism	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	574	963	6636	150330
HP:0001007	HP:0001007	Hirsutism	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	410	15714	607544
HP:0001007	HP:0001007	Hirsutism	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	112	7166	120360
HP:0001007	HP:0001007	Hirsutism	0	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	176	241	7632	609701
HP:0001007	HP:0001007	Hirsutism	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	58	19237	605202
HP:0001007	HP:0001007	Hirsutism	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	731	28862	608667
HP:0001007	HP:0001007	Hirsutism	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	81	378	7882	600275
HP:0001007	HP:0001007	Hirsutism	0	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	0	NR3C1 CL E G H	2908	615962	Glucocorticoid resistance, generalized	615962	C1841972	OMIM	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	0	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	480	2567	300170
HP:0001007	HP:0001007	Hirsutism	0	PAPSS2 CL E G H	9060	612847	Spondyloepimetaphyseal dysplasia, pakistani type	612847	C2748515	OMIM	1	22	65	8604	603005
HP:0001007	HP:0001007	Hirsutism	0	PLAA CL E G H	9373	521426				ORPHA	1	3	78	9043	603873
HP:0001007	HP:0001007	Hirsutism	0	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	54	80	9236	601487
HP:0001007	HP:0001007	Hirsutism	0	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	4	30	9380	601639
HP:0001007	HP:0001007	Hirsutism	0	PRKAR1A CL E G H	5573	1359				ORPHA	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	0	PRKAR1A CL E G H	5573	160980	Carney complex, type 1	160980	C2607929	OMIM	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	0	RIN2 CL E G H	54453	217335				ORPHA	1	4	153	18750	610222
HP:0001007	HP:0001007	Hirsutism	0	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	19	318	18420	612778
HP:0001007	HP:0001007	Hirsutism	0	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	148	339	10818	605270
HP:0001007	HP:0001007	Hirsutism	0	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	9	218	29215	300579
HP:0001007	HP:0001007	Hirsutism	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	394	11111	300040
HP:0001007	HP:0001007	Hirsutism	0	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	1	28	186	2468	606062
HP:0001007	HP:0001007	Hirsutism	0	SRCAP CL E G H	10847	136140	Floating-Harbor syndrome	136140	C0729582	OMIM	1	44	282	16974	611421
HP:0001007	HP:0001007	Hirsutism	0	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	5	52	11540	602955
HP:0001007	HP:0001007	Hirsutism	0	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	26	183	12472	312180
HP:0001007	HP:0001007	Hirsutism	0	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	1	76	12631	603158
HP:0001007	HP:0001007	Hirsutism	0	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	1	46	18179	610034
HP:0001007	HP:0001007	Hirsutism	0	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	25	75	17327	615049
HP:0001007	HP:0001007	Hirsutism	0	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	17	201	26600	614218
HP:0001007	HP:0001007	Hirsutism	0	WNT4 CL E G H	54361	158330	Mullerian aplasia and hyperandrogenism	158330	C2675014	OMIM	1	8	27	12783	603490
HP:0001007	HP:0001007	Hirsutism	1	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1	5	47	35	612503
HP:0001007	HP:0001007	Hirsutism	1	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	465	218	604539
HP:0001007	HP:0001007	Hirsutism	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	156	325	603100
HP:0001007	HP:0001007	Hirsutism	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	112	233	358	605555
HP:0001007	HP:0001007	Hirsutism	1	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	207	387	714	611542
HP:0001007	HP:0001007	Hirsutism	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	423	18060	300382
HP:0001007	HP:0001007	Hirsutism	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	254	18318	612990
HP:0001007	HP:0001007	Hirsutism	1	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	222	966	209901
HP:0001007	HP:0001007	Hirsutism	1	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	12	56	13222	606558
HP:0001007	HP:0001007	Hirsutism	1	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	28	174	1068	300247
HP:0001007	HP:0001007	Hirsutism	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	224	15832	606158
HP:0001007	HP:0001007	Hirsutism	1	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	12	153	1394	604065
HP:0001007	HP:0001007	Hirsutism	1	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	61	1527	601047
HP:0001007	HP:0001007	Hirsutism	1	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	13	231	29426	612753
HP:0001007	HP:0001007	Hirsutism	1	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	72	1774	123831
HP:0001007	HP:0001007	Hirsutism	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	674	2348	600140
HP:0001007	HP:0001007	Hirsutism	1	CYP11B1 CL E G H	1584	90795				ORPHA	1	161	270	2591	610613
HP:0001007	HP:0001007	Hirsutism	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	444	3373	602700
HP:0001007	HP:0001007	Hirsutism	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	418	3438	609413
HP:0001007	HP:0001007	Hirsutism	1	FGFR2 CL E G H	2263	313855				ORPHA	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	1	FGFR2 CL E G H	2263	614592	Bent bone dysplasia syndrome	614592	C3281247	OMIM	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	1	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	271	1350	3754	300017
HP:0001007	HP:0001007	Hirsutism	1	FRMD4A CL E G H	55691	466688				ORPHA	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	1	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	1	FSHR CL E G H	2492	64739				ORPHA	1	41	88	3969	136435
HP:0001007	HP:0001007	Hirsutism	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	25	110	4422	607664
HP:0001007	HP:0001007	Hirsutism	1	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	66	124	4696	611499
HP:0001007	HP:0001007	Hirsutism	1	H6PD CL E G H	9563	604931	Cortisone reductase deficiency 1	604931	C3551716	OMIM	1	12	93	4795	138090
HP:0001007	HP:0001007	Hirsutism	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	72	249	26527	610453
HP:0001007	HP:0001007	Hirsutism	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	1	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	82	6250	603305
HP:0001007	HP:0001007	Hirsutism	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1231	7133	602113
HP:0001007	HP:0001007	Hirsutism	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	574	963	6636	150330
HP:0001007	HP:0001007	Hirsutism	1	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	410	15714	607544
HP:0001007	HP:0001007	Hirsutism	1	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	112	7166	120360
HP:0001007	HP:0001007	Hirsutism	1	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	176	241	7632	609701
HP:0001007	HP:0001007	Hirsutism	1	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	58	19237	605202
HP:0001007	HP:0001007	Hirsutism	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	731	28862	608667
HP:0001007	HP:0001007	Hirsutism	1	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	81	378	7882	600275
HP:0001007	HP:0001007	Hirsutism	1	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	1	NR3C1 CL E G H	2908	615962	Glucocorticoid resistance, generalized	615962	C1841972	OMIM	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	480	2567	300170
HP:0001007	HP:0001007	Hirsutism	1	PAPSS2 CL E G H	9060	612847	Spondyloepimetaphyseal dysplasia, pakistani type	612847	C2748515	OMIM	1	22	65	8604	603005
HP:0001007	HP:0001007	Hirsutism	1	PLAA CL E G H	9373	521426				ORPHA	1	3	78	9043	603873
HP:0001007	HP:0001007	Hirsutism	1	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	54	80	9236	601487
HP:0001007	HP:0001007	Hirsutism	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	4	30	9380	601639
HP:0001007	HP:0001007	Hirsutism	1	PRKAR1A CL E G H	5573	1359				ORPHA	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	1	PRKAR1A CL E G H	5573	160980	Carney complex, type 1	160980	C2607929	OMIM	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	1	RIN2 CL E G H	54453	217335				ORPHA	1	4	153	18750	610222
HP:0001007	HP:0001007	Hirsutism	1	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	19	318	18420	612778
HP:0001007	HP:0001007	Hirsutism	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	148	339	10818	605270
HP:0001007	HP:0001007	Hirsutism	1	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	9	218	29215	300579
HP:0001007	HP:0001007	Hirsutism	1	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	394	11111	300040
HP:0001007	HP:0001007	Hirsutism	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	1	28	186	2468	606062
HP:0001007	HP:0001007	Hirsutism	1	SRCAP CL E G H	10847	136140	Floating-Harbor syndrome	136140	C0729582	OMIM	1	44	282	16974	611421
HP:0001007	HP:0001007	Hirsutism	1	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	5	52	11540	602955
HP:0001007	HP:0001007	Hirsutism	1	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	26	183	12472	312180
HP:0001007	HP:0001007	Hirsutism	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	1	76	12631	603158
HP:0001007	HP:0001007	Hirsutism	1	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	1	46	18179	610034
HP:0001007	HP:0001007	Hirsutism	1	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	25	75	17327	615049
HP:0001007	HP:0001007	Hirsutism	1	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	17	201	26600	614218
HP:0001007	HP:0001007	Hirsutism	1	WNT4 CL E G H	54361	158330	Mullerian aplasia and hyperandrogenism	158330	C2675014	OMIM	1	8	27	12783	603490
HP:0001007	HP:0001007	Hirsutism	2	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1	5	47	35	612503
HP:0001007	HP:0001007	Hirsutism	2	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	465	218	604539
HP:0001007	HP:0001007	Hirsutism	2	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	156	325	603100
HP:0001007	HP:0001007	Hirsutism	2	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	112	233	358	605555
HP:0001007	HP:0001007	Hirsutism	2	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	207	387	714	611542
HP:0001007	HP:0001007	Hirsutism	2	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	423	18060	300382
HP:0001007	HP:0001007	Hirsutism	2	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	254	18318	612990
HP:0001007	HP:0001007	Hirsutism	2	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	222	966	209901
HP:0001007	HP:0001007	Hirsutism	2	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	12	56	13222	606558
HP:0001007	HP:0001007	Hirsutism	2	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	28	174	1068	300247
HP:0001007	HP:0001007	Hirsutism	2	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	224	15832	606158
HP:0001007	HP:0001007	Hirsutism	2	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	12	153	1394	604065
HP:0001007	HP:0001007	Hirsutism	2	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	61	1527	601047
HP:0001007	HP:0001007	Hirsutism	2	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	13	231	29426	612753
HP:0001007	HP:0001007	Hirsutism	2	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	72	1774	123831
HP:0001007	HP:0001007	Hirsutism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	674	2348	600140
HP:0001007	HP:0001007	Hirsutism	2	CYP11B1 CL E G H	1584	90795				ORPHA	1	161	270	2591	610613
HP:0001007	HP:0001007	Hirsutism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	444	3373	602700
HP:0001007	HP:0001007	Hirsutism	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	418	3438	609413
HP:0001007	HP:0001007	Hirsutism	2	FGFR2 CL E G H	2263	313855				ORPHA	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	2	FGFR2 CL E G H	2263	614592	Bent bone dysplasia syndrome	614592	C3281247	OMIM	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	2	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	271	1350	3754	300017
HP:0001007	HP:0001007	Hirsutism	2	FRMD4A CL E G H	55691	466688				ORPHA	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	2	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	2	FSHR CL E G H	2492	64739				ORPHA	1	41	88	3969	136435
HP:0001007	HP:0001007	Hirsutism	2	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	25	110	4422	607664
HP:0001007	HP:0001007	Hirsutism	2	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	66	124	4696	611499
HP:0001007	HP:0001007	Hirsutism	2	H6PD CL E G H	9563	604931	Cortisone reductase deficiency 1	604931	C3551716	OMIM	1	12	93	4795	138090
HP:0001007	HP:0001007	Hirsutism	2	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	72	249	26527	610453
HP:0001007	HP:0001007	Hirsutism	2	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	2	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	2	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	82	6250	603305
HP:0001007	HP:0001007	Hirsutism	2	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	2	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1231	7133	602113
HP:0001007	HP:0001007	Hirsutism	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	574	963	6636	150330
HP:0001007	HP:0001007	Hirsutism	2	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	410	15714	607544
HP:0001007	HP:0001007	Hirsutism	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	112	7166	120360
HP:0001007	HP:0001007	Hirsutism	2	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	176	241	7632	609701
HP:0001007	HP:0001007	Hirsutism	2	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	58	19237	605202
HP:0001007	HP:0001007	Hirsutism	2	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	731	28862	608667
HP:0001007	HP:0001007	Hirsutism	2	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	81	378	7882	600275
HP:0001007	HP:0001007	Hirsutism	2	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	2	NR3C1 CL E G H	2908	615962	Glucocorticoid resistance, generalized	615962	C1841972	OMIM	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	480	2567	300170
HP:0001007	HP:0001007	Hirsutism	2	PAPSS2 CL E G H	9060	612847	Spondyloepimetaphyseal dysplasia, pakistani type	612847	C2748515	OMIM	1	22	65	8604	603005
HP:0001007	HP:0001007	Hirsutism	2	PLAA CL E G H	9373	521426				ORPHA	1	3	78	9043	603873
HP:0001007	HP:0001007	Hirsutism	2	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	54	80	9236	601487
HP:0001007	HP:0001007	Hirsutism	2	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	4	30	9380	601639
HP:0001007	HP:0001007	Hirsutism	2	PRKAR1A CL E G H	5573	1359				ORPHA	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	2	PRKAR1A CL E G H	5573	160980	Carney complex, type 1	160980	C2607929	OMIM	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	2	RIN2 CL E G H	54453	217335				ORPHA	1	4	153	18750	610222
HP:0001007	HP:0001007	Hirsutism	2	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	19	318	18420	612778
HP:0001007	HP:0001007	Hirsutism	2	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	148	339	10818	605270
HP:0001007	HP:0001007	Hirsutism	2	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	9	218	29215	300579
HP:0001007	HP:0001007	Hirsutism	2	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	394	11111	300040
HP:0001007	HP:0001007	Hirsutism	2	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	1	28	186	2468	606062
HP:0001007	HP:0001007	Hirsutism	2	SRCAP CL E G H	10847	136140	Floating-Harbor syndrome	136140	C0729582	OMIM	1	44	282	16974	611421
HP:0001007	HP:0001007	Hirsutism	2	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	5	52	11540	602955
HP:0001007	HP:0001007	Hirsutism	2	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	26	183	12472	312180
HP:0001007	HP:0001007	Hirsutism	2	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	1	76	12631	603158
HP:0001007	HP:0001007	Hirsutism	2	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	1	46	18179	610034
HP:0001007	HP:0001007	Hirsutism	2	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	25	75	17327	615049
HP:0001007	HP:0001007	Hirsutism	2	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	17	201	26600	614218
HP:0001007	HP:0001007	Hirsutism	2	WNT4 CL E G H	54361	158330	Mullerian aplasia and hyperandrogenism	158330	C2675014	OMIM	1	8	27	12783	603490
HP:0001007	HP:0001007	Hirsutism	3	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1	5	47	35	612503
HP:0001007	HP:0001007	Hirsutism	3	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	465	218	604539
HP:0001007	HP:0001007	Hirsutism	3	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	156	325	603100
HP:0001007	HP:0001007	Hirsutism	3	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	112	233	358	605555
HP:0001007	HP:0001007	Hirsutism	3	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	207	387	714	611542
HP:0001007	HP:0001007	Hirsutism	3	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	423	18060	300382
HP:0001007	HP:0001007	Hirsutism	3	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	254	18318	612990
HP:0001007	HP:0001007	Hirsutism	3	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	222	966	209901
HP:0001007	HP:0001007	Hirsutism	3	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	12	56	13222	606558
HP:0001007	HP:0001007	Hirsutism	3	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	28	174	1068	300247
HP:0001007	HP:0001007	Hirsutism	3	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	224	15832	606158
HP:0001007	HP:0001007	Hirsutism	3	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	12	153	1394	604065
HP:0001007	HP:0001007	Hirsutism	3	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	61	1527	601047
HP:0001007	HP:0001007	Hirsutism	3	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	13	231	29426	612753
HP:0001007	HP:0001007	Hirsutism	3	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	72	1774	123831
HP:0001007	HP:0001007	Hirsutism	3	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	674	2348	600140
HP:0001007	HP:0001007	Hirsutism	3	CYP11B1 CL E G H	1584	90795				ORPHA	1	161	270	2591	610613
HP:0001007	HP:0001007	Hirsutism	3	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	444	3373	602700
HP:0001007	HP:0001007	Hirsutism	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	418	3438	609413
HP:0001007	HP:0001007	Hirsutism	3	FGFR2 CL E G H	2263	313855				ORPHA	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	3	FGFR2 CL E G H	2263	614592	Bent bone dysplasia syndrome	614592	C3281247	OMIM	1	159	293	3689	176943
HP:0001007	HP:0001007	Hirsutism	3	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	271	1350	3754	300017
HP:0001007	HP:0001007	Hirsutism	3	FRMD4A CL E G H	55691	466688				ORPHA	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	3	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	49	25491	616305
HP:0001007	HP:0001007	Hirsutism	3	FSHR CL E G H	2492	64739				ORPHA	1	41	88	3969	136435
HP:0001007	HP:0001007	Hirsutism	3	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	25	110	4422	607664
HP:0001007	HP:0001007	Hirsutism	3	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	66	124	4696	611499
HP:0001007	HP:0001007	Hirsutism	3	H6PD CL E G H	9563	604931	Cortisone reductase deficiency 1	604931	C3551716	OMIM	1	12	93	4795	138090
HP:0001007	HP:0001007	Hirsutism	3	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	72	249	26527	610453
HP:0001007	HP:0001007	Hirsutism	3	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	3	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	291	528	5391	252800
HP:0001007	HP:0001007	Hirsutism	3	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	82	6250	603305
HP:0001007	HP:0001007	Hirsutism	3	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	3	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1231	7133	602113
HP:0001007	HP:0001007	Hirsutism	3	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	574	963	6636	150330
HP:0001007	HP:0001007	Hirsutism	3	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	410	15714	607544
HP:0001007	HP:0001007	Hirsutism	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	112	7166	120360
HP:0001007	HP:0001007	Hirsutism	3	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	176	241	7632	609701
HP:0001007	HP:0001007	Hirsutism	3	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	58	19237	605202
HP:0001007	HP:0001007	Hirsutism	3	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	731	28862	608667
HP:0001007	HP:0001007	Hirsutism	3	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	81	378	7882	600275
HP:0001007	HP:0001007	Hirsutism	3	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	3	NR3C1 CL E G H	2908	615962	Glucocorticoid resistance, generalized	615962	C1841972	OMIM	1	46	115	7978	138040
HP:0001007	HP:0001007	Hirsutism	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	480	2567	300170
HP:0001007	HP:0001007	Hirsutism	3	PAPSS2 CL E G H	9060	612847	Spondyloepimetaphyseal dysplasia, pakistani type	612847	C2748515	OMIM	1	22	65	8604	603005
HP:0001007	HP:0001007	Hirsutism	3	PLAA CL E G H	9373	521426				ORPHA	1	3	78	9043	603873
HP:0001007	HP:0001007	Hirsutism	3	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	54	80	9236	601487
HP:0001007	HP:0001007	Hirsutism	3	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	4	30	9380	601639
HP:0001007	HP:0001007	Hirsutism	3	PRKAR1A CL E G H	5573	1359				ORPHA	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	3	PRKAR1A CL E G H	5573	160980	Carney complex, type 1	160980	C2607929	OMIM	1	188	365	9388	188830
HP:0001007	HP:0001007	Hirsutism	3	RIN2 CL E G H	54453	217335				ORPHA	1	4	153	18750	610222
HP:0001007	HP:0001007	Hirsutism	3	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	19	318	18420	612778
HP:0001007	HP:0001007	Hirsutism	3	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	148	339	10818	605270
HP:0001007	HP:0001007	Hirsutism	3	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	9	218	29215	300579
HP:0001007	HP:0001007	Hirsutism	3	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	394	11111	300040
HP:0001007	HP:0001007	Hirsutism	3	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	1	28	186	2468	606062
HP:0001007	HP:0001007	Hirsutism	3	SRCAP CL E G H	10847	136140	Floating-Harbor syndrome	136140	C0729582	OMIM	1	44	282	16974	611421
HP:0001007	HP:0001007	Hirsutism	3	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	5	52	11540	602955
HP:0001007	HP:0001007	Hirsutism	3	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	26	183	12472	312180
HP:0001007	HP:0001007	Hirsutism	3	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	1	76	12631	603158
HP:0001007	HP:0001007	Hirsutism	3	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	1	46	18179	610034
HP:0001007	HP:0001007	Hirsutism	3	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	25	75	17327	615049
HP:0001007	HP:0001007	Hirsutism	3	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	17	201	26600	614218
HP:0001007	HP:0001007	Hirsutism	3	WNT4 CL E G H	54361	158330	Mullerian aplasia and hyperandrogenism	158330	C2675014	OMIM	1	8	27	12783	603490
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001007	HP:0001007	Hirsutism	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	0	15	64	9688	603198
HP:0001007	HP:0001007	Hirsutism	0	GATA1 CL E G H	2623	314050	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	314050	C1839161	OMIM	0	15	221	4170	305371
HP:0001007	HP:0001007	Hirsutism	0	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	244	446	4319	165240
HP:0001007	HP:0001007	Hirsutism	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	56	214	13315	300269
HP:0001007	HP:0001007	Hirsutism	0	HSD3B2 CL E G H	3284	90791				ORPHA	0	63	77	5218	613890
HP:0001007	HP:0001007	Hirsutism	0	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	0	MAP3K1 CL E G H	4214	613762	46,XY sex reversal, type 6	613762	C3151064	OMIM	0	33	99	6848	600982
HP:0001007	HP:0001007	Hirsutism	0	MAP3K7 CL E G H	6885	617137	Frontometaphyseal dysplasia 2	617137	C4310697	OMIM	0	13	61	6859	602614
HP:0001007	HP:0001007	Hirsutism	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	0	5	82	7045	602616
HP:0001007	HP:0001007	Hirsutism	0	NKX6-2 CL E G H	84504	527497				ORPHA	0	9	103	19321	605955
HP:0001007	HP:0001007	Hirsutism	0	POR CL E G H	5447	95699				ORPHA	0	92	173	9208	124015
HP:0001007	HP:0001007	Hirsutism	0	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	0	57	2214	11100	603254
HP:0001007	HP:0001007	Hirsutism	0	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	0	119	405	11103	601607
HP:0001007	HP:0001007	Hirsutism	0	SMO CL E G H	6608	601707	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	601707	C0795915	OMIM	0	7	61	11119	601500
HP:0001007	HP:0001007	Hirsutism	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	228	11535	313650
HP:0001007	HP:0001007	Hirsutism	0	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	0	7	98	16133	611663
HP:0001007	HP:0001007	Hirsutism	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	0	15	64	9688	603198
HP:0001007	HP:0001007	Hirsutism	1	GATA1 CL E G H	2623	314050	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	314050	C1839161	OMIM	0	15	221	4170	305371
HP:0001007	HP:0001007	Hirsutism	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	244	446	4319	165240
HP:0001007	HP:0001007	Hirsutism	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	56	214	13315	300269
HP:0001007	HP:0001007	Hirsutism	1	HSD3B2 CL E G H	3284	90791				ORPHA	0	63	77	5218	613890
HP:0001007	HP:0001007	Hirsutism	1	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	1	MAP3K1 CL E G H	4214	613762	46,XY sex reversal, type 6	613762	C3151064	OMIM	0	33	99	6848	600982
HP:0001007	HP:0001007	Hirsutism	1	MAP3K7 CL E G H	6885	617137	Frontometaphyseal dysplasia 2	617137	C4310697	OMIM	0	13	61	6859	602614
HP:0001007	HP:0001007	Hirsutism	1	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	0	5	82	7045	602616
HP:0001007	HP:0001007	Hirsutism	1	NKX6-2 CL E G H	84504	527497				ORPHA	0	9	103	19321	605955
HP:0001007	HP:0001007	Hirsutism	1	POR CL E G H	5447	95699				ORPHA	0	92	173	9208	124015
HP:0001007	HP:0001007	Hirsutism	1	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	0	57	2214	11100	603254
HP:0001007	HP:0001007	Hirsutism	1	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	0	119	405	11103	601607
HP:0001007	HP:0001007	Hirsutism	1	SMO CL E G H	6608	601707	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	601707	C0795915	OMIM	0	7	61	11119	601500
HP:0001007	HP:0001007	Hirsutism	1	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	228	11535	313650
HP:0001007	HP:0001007	Hirsutism	1	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	0	7	98	16133	611663
HP:0001007	HP:0001007	Hirsutism	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	0	15	64	9688	603198
HP:0001007	HP:0001007	Hirsutism	2	GATA1 CL E G H	2623	314050	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	314050	C1839161	OMIM	0	15	221	4170	305371
HP:0001007	HP:0001007	Hirsutism	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	244	446	4319	165240
HP:0001007	HP:0001007	Hirsutism	2	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	56	214	13315	300269
HP:0001007	HP:0001007	Hirsutism	2	HSD3B2 CL E G H	3284	90791				ORPHA	0	63	77	5218	613890
HP:0001007	HP:0001007	Hirsutism	2	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	2	MAP3K1 CL E G H	4214	613762	46,XY sex reversal, type 6	613762	C3151064	OMIM	0	33	99	6848	600982
HP:0001007	HP:0001007	Hirsutism	2	MAP3K7 CL E G H	6885	617137	Frontometaphyseal dysplasia 2	617137	C4310697	OMIM	0	13	61	6859	602614
HP:0001007	HP:0001007	Hirsutism	2	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	0	5	82	7045	602616
HP:0001007	HP:0001007	Hirsutism	2	NKX6-2 CL E G H	84504	527497				ORPHA	0	9	103	19321	605955
HP:0001007	HP:0001007	Hirsutism	2	POR CL E G H	5447	95699				ORPHA	0	92	173	9208	124015
HP:0001007	HP:0001007	Hirsutism	2	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	0	57	2214	11100	603254
HP:0001007	HP:0001007	Hirsutism	2	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	0	119	405	11103	601607
HP:0001007	HP:0001007	Hirsutism	2	SMO CL E G H	6608	601707	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	601707	C0795915	OMIM	0	7	61	11119	601500
HP:0001007	HP:0001007	Hirsutism	2	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	228	11535	313650
HP:0001007	HP:0001007	Hirsutism	2	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	0	7	98	16133	611663
HP:0001007	HP:0001007	Hirsutism	3	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	0	15	64	9688	603198
HP:0001007	HP:0001007	Hirsutism	3	GATA1 CL E G H	2623	314050	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	314050	C1839161	OMIM	0	15	221	4170	305371
HP:0001007	HP:0001007	Hirsutism	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	244	446	4319	165240
HP:0001007	HP:0001007	Hirsutism	3	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	56	214	13315	300269
HP:0001007	HP:0001007	Hirsutism	3	HSD3B2 CL E G H	3284	90791				ORPHA	0	63	77	5218	613890
HP:0001007	HP:0001007	Hirsutism	3	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	81	282	12637	300128
HP:0001007	HP:0001007	Hirsutism	3	MAP3K1 CL E G H	4214	613762	46,XY sex reversal, type 6	613762	C3151064	OMIM	0	33	99	6848	600982
HP:0001007	HP:0001007	Hirsutism	3	MAP3K7 CL E G H	6885	617137	Frontometaphyseal dysplasia 2	617137	C4310697	OMIM	0	13	61	6859	602614
HP:0001007	HP:0001007	Hirsutism	3	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	0	5	82	7045	602616
HP:0001007	HP:0001007	Hirsutism	3	NKX6-2 CL E G H	84504	527497				ORPHA	0	9	103	19321	605955
HP:0001007	HP:0001007	Hirsutism	3	POR CL E G H	5447	95699				ORPHA	0	92	173	9208	124015
HP:0001007	HP:0001007	Hirsutism	3	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	0	57	2214	11100	603254
HP:0001007	HP:0001007	Hirsutism	3	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	0	119	405	11103	601607
HP:0001007	HP:0001007	Hirsutism	3	SMO CL E G H	6608	601707	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	601707	C0795915	OMIM	0	7	61	11119	601500
HP:0001007	HP:0001007	Hirsutism	3	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	228	11535	313650
HP:0001007	HP:0001007	Hirsutism	3	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	0	7	98	16133	611663

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

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

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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