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:
obsolete Abnormality of hair density (HP:0011357)

Parent Node:
Abnormality of the scalp hair (HP:0100037)

Parent Node:
Sparse hair (HP:0008070)

..Starting node
..Sparse scalp hair (HP:0002209)

Term ID:

2209

Name:

Sparse scalp hair

Synonym:

Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thin scalp hair; Thinning scalp hair

Definition:

Decreased number of hairs per unit area of skin of the scalp.

Comments:

Reference:

HP:0002209

Genes and Diseases:

Child Nodes:

........

Sparse anterior scalp hair (HP:0004768)

Sister Nodes:

Sparse axillary hair (HP:0002215)

Sparse body hair (HP:0002231)

Sparse eyelashes (HP:0000653)

Sparse facial hair (HP:0007464)

Sparse pubic hair (HP:0002225)

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:0002209	HP:0002209	Sparse scalp hair	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0002209	HP:0002209	Sparse scalp hair	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0002209	HP:0002209	Sparse scalp hair	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent	5
HP:0002209	HP:0002209	Sparse scalp hair	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0002209	HP:0002209	Sparse scalp hair	0	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	1
HP:0002209	HP:0002209	Sparse scalp hair	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0002209	HP:0002209	Sparse scalp hair	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002209	HP:0002209	Sparse scalp hair	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0002209	HP:0002209	Sparse scalp hair	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002209	HP:0002209	Sparse scalp hair	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0002209	HP:0002209	Sparse scalp hair	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0002209	HP:0002209	Sparse scalp hair	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0002209	HP:0002209	Sparse scalp hair	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002209	HP:0002209	Sparse scalp hair	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0002209	HP:0002209	Sparse scalp hair	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0002209	HP:0002209	Sparse scalp hair	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	29
HP:0002209	HP:0002209	Sparse scalp hair	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0002209	HP:0002209	Sparse scalp hair	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002209	HP:0002209	Sparse scalp hair	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002209	HP:0002209	Sparse scalp hair	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002209	HP:0002209	Sparse scalp hair	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent	276
HP:0002209	HP:0002209	Sparse scalp hair	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002209	HP:0002209	Sparse scalp hair	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002209	HP:0002209	Sparse scalp hair	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002209	HP:0002209	Sparse scalp hair	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0002209	HP:0002209	Sparse scalp hair	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002209	HP:0002209	Sparse scalp hair	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002209	HP:0002209	Sparse scalp hair	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0002209	HP:0002209	Sparse scalp hair	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040281 - Very frequent	87
HP:0002209	HP:0002209	Sparse scalp hair	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent	87
HP:0002209	HP:0002209	Sparse scalp hair	0	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2	.	7
HP:0002209	HP:0002209	Sparse scalp hair	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0002209	HP:0002209	Sparse scalp hair	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0002209	HP:0002209	Sparse scalp hair	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0002209	HP:0002209	Sparse scalp hair	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0002209	HP:0002209	Sparse scalp hair	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent	11
HP:0002209	HP:0002209	Sparse scalp hair	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0002209	HP:0002209	Sparse scalp hair	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0002209	HP:0002209	Sparse scalp hair	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0002209	HP:0002209	Sparse scalp hair	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002209	HP:0002209	Sparse scalp hair	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0002209	HP:0002209	Sparse scalp hair	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent	3
HP:0002209	HP:0002209	Sparse scalp hair	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0002209	HP:0002209	Sparse scalp hair	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0002209	HP:0002209	Sparse scalp hair	0	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	63
HP:0002209	HP:0002209	Sparse scalp hair	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0002209	HP:0002209	Sparse scalp hair	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0002209	HP:0002209	Sparse scalp hair	0	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0002209	HP:0002209	Sparse scalp hair	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002209	HP:0002209	Sparse scalp hair	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002209	HP:0002209	Sparse scalp hair	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0002209	HP:0002209	Sparse scalp hair	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0002209	HP:0002209	Sparse scalp hair	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0002209	HP:0002209	Sparse scalp hair	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0002209	HP:0002209	Sparse scalp hair	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0002209	HP:0002209	Sparse scalp hair	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0002209	HP:0002209	Sparse scalp hair	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0002209	HP:0002209	Sparse scalp hair	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002209	HP:0002209	Sparse scalp hair	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002209	HP:0002209	Sparse scalp hair	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002209	HP:0002209	Sparse scalp hair	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0002209	HP:0002209	Sparse scalp hair	0	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0002209	HP:0002209	Sparse scalp hair	0	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent	106
HP:0002209	HP:0002209	Sparse scalp hair	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0002209	HP:0002209	Sparse scalp hair	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002209	HP:0002209	Sparse scalp hair	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0002209	HP:0002209	Sparse scalp hair	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002209	HP:0002209	Sparse scalp hair	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0002209	HP:0002209	Sparse scalp hair	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0002209	HP:0002209	Sparse scalp hair	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent	222
HP:0002209	HP:0002209	Sparse scalp hair	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.	1
HP:0002209	HP:0002209	Sparse scalp hair	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0002209	HP:0002209	Sparse scalp hair	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent	141
HP:0002209	HP:0002209	Sparse scalp hair	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002209	HP:0002209	Sparse scalp hair	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0002209	HP:0002209	Sparse scalp hair	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0002209	HP:0002209	Sparse scalp hair	0	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3		2
HP:0002209	HP:0002209	Sparse scalp hair	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0002209	HP:0002209	Sparse scalp hair	0	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3		5
HP:0002209	HP:0002209	Sparse scalp hair	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0002209	HP:0002209	Sparse scalp hair	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0002209	HP:0002209	Sparse scalp hair	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0002209	HP:0002209	Sparse scalp hair	0	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	12
HP:0002209	HP:0002209	Sparse scalp hair	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0002209	HP:0002209	Sparse scalp hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional	8
HP:0002209	HP:0002209	Sparse scalp hair	0	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	8
HP:0002209	HP:0002209	Sparse scalp hair	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0002209	HP:0002209	Sparse scalp hair	0	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	2
HP:0002209	HP:0002209	Sparse scalp hair	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0002209	HP:0002209	Sparse scalp hair	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0002209	HP:0002209	Sparse scalp hair	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0002209	HP:0002209	Sparse scalp hair	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002209	HP:0002209	Sparse scalp hair	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0002209	HP:0002209	Sparse scalp hair	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002209	HP:0002209	Sparse scalp hair	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0002209	HP:0002209	Sparse scalp hair	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0002209	HP:0002209	Sparse scalp hair	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002209	HP:0002209	Sparse scalp hair	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0002209	HP:0002209	Sparse scalp hair	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0002209	HP:0002209	Sparse scalp hair	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0002209	HP:0002209	Sparse scalp hair	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0002209	HP:0002209	Sparse scalp hair	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0002209	HP:0002209	Sparse scalp hair	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002209	HP:0002209	Sparse scalp hair	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0002209	HP:0002209	Sparse scalp hair	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0002209	HP:0002209	Sparse scalp hair	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002209	HP:0002209	Sparse scalp hair	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0002209	HP:0002209	Sparse scalp hair	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0002209	HP:0002209	Sparse scalp hair	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0002209	HP:0002209	Sparse scalp hair	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0002209	HP:0002209	Sparse scalp hair	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002209	HP:0002209	Sparse scalp hair	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	9
HP:0002209	HP:0002209	Sparse scalp hair	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0002209	HP:0002209	Sparse scalp hair	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0002209	HP:0002209	Sparse scalp hair	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0002209	HP:0002209	Sparse scalp hair	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002209	HP:0002209	Sparse scalp hair	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0002209	HP:0002209	Sparse scalp hair	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002209	HP:0002209	Sparse scalp hair	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002209	HP:0002209	Sparse scalp hair	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0002209	HP:0002209	Sparse scalp hair	0	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	1
HP:0002209	HP:0002209	Sparse scalp hair	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0002209	HP:0002209	Sparse scalp hair	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0002209	HP:0002209	Sparse scalp hair	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	74
HP:0002209	HP:0002209	Sparse scalp hair	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0002209	HP:0002209	Sparse scalp hair	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0002209	HP:0002209	Sparse scalp hair	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002209	HP:0002209	Sparse scalp hair	0	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex	HP:0040281 - Very frequent	2
HP:0002209	HP:0002209	Sparse scalp hair	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0002209	HP:0002209	Sparse scalp hair	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0002209	HP:0002209	Sparse scalp hair	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0002209	HP:0002209	Sparse scalp hair	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0002209	HP:0002209	Sparse scalp hair	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002209	HP:0002209	Sparse scalp hair	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0002209	HP:0002209	Sparse scalp hair	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0002209	HP:0002209	Sparse scalp hair	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002209	HP:0002209	Sparse scalp hair	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0002209	HP:0002209	Sparse scalp hair	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0002209	HP:0002209	Sparse scalp hair	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002209	HP:0002209	Sparse scalp hair	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0002209	HP:0002209	Sparse scalp hair	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent	140
HP:0002209	HP:0002209	Sparse scalp hair	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0002209	HP:0002209	Sparse scalp hair	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0002209	HP:0002209	Sparse scalp hair	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0002209	HP:0002209	Sparse scalp hair	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		39
HP:0002209	HP:0002209	Sparse scalp hair	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002209	HP:0002209	Sparse scalp hair	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002209	HP:0002209	Sparse scalp hair	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002209	HP:0002209	Sparse scalp hair	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002209	HP:0002209	Sparse scalp hair	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0002209	HP:0002209	Sparse scalp hair	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002209	HP:0002209	Sparse scalp hair	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0002209	HP:0002209	Sparse scalp hair	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0002209	HP:0002209	Sparse scalp hair	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0002209	HP:0002209	Sparse scalp hair	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002209	HP:0004768	Sparse anterior scalp hair	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0002209	HP:0004768	Sparse anterior scalp hair	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0002209	HP:0004768	Sparse anterior scalp hair	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60

Genes (134) :ACD ADNP AHSG APC2 APCDD1 ARID1A ARID1B ARID2 ATR ATRIP ATRX AXIN2 B3GALT6 B4GALT7 BANF1 BICRA BRAF CACNA1C CARS1 CAV1 CBS CDC42BPB CDH23 CDH3 CDSN CENPE CENPJ CEP152 CLDN1 CRIPT CST6 DKC1 DPF2 DPH1 DPH2 DSC3 DSG4 EDARADD EIF5A EPS8L3 ERCC2 ERCC3 EXT1 FAS FIG4 GJA1 GJB2 GJB6 GNB2 GTF2E2 GTF2H5 HDAC4 HLA-DRA HR HRURF IFT140 IGF1R IPO8 ITGA3 ITGB6 JUP KANK2 KAT6B KDM1A KIFBP KRT17 KRT25 KRT74 LIG4 LIPH LMNA LPAR6 LSS MAF MED25 MPLKIP NECTIN4 NEPRO NHP2 NOP10 NR3C1 NSD1 NSUN2 NTRK1 NUP85 OCRL ODC1 PARN PCGF2 PCNT PLK4 POLR3A PPP1CB PRKD1 PTPN22 RBBP8 RECQL4 RIN2 RIPK4 RNF113A RNU4ATAC RPL21 RTEL1 SETD2 SHOC2 SLC25A24 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNRPE SOX11 SOX18 SOX4 SPINK5 TARS1 TERT TINF2 TP53 TP63 TRAIP TRPS1 TSPEAR UBA2 UBR1 USP48 USP8 VAC14 WLS WNT10A WRN ZBTB20

Diseases (110) :ORPHA:3322 ORPHA:404448 ORPHA:2850 ORPHA:821 ORPHA:55654 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:808 ORPHA:96253 OMIM:608615 OMIM:271640 ORPHA:75496 OMIM:130070 OMIM:614008 OMIM:619325 ORPHA:840 OMIM:620029 ORPHA:33364 OMIM:606721 ORPHA:394 OMIM:619841 OMIM:225280 ORPHA:1897 ORPHA:1573 OMIM:146520 ORPHA:90368 ORPHA:59303 OMIM:615789 OMIM:618535 OMIM:618027 ORPHA:459061 OMIM:620062 OMIM:613102 OMIM:614941 OMIM:619376 ORPHA:444 ORPHA:502 ORPHA:3437 ORPHA:3472 OMIM:216340 ORPHA:1010 OMIM:602540 ORPHA:189 OMIM:619503 ORPHA:1001 ORPHA:505 OMIM:146550 OMIM:266920 OMIM:270450 OMIM:619472 OMIM:614748 ORPHA:34217 OMIM:616099 OMIM:606170 ORPHA:85201 ORPHA:477993 ORPHA:66629 OMIM:167210 OMIM:616760 OMIM:614929 OMIM:613981 ORPHA:235 OMIM:604379 OMIM:248370 OMIM:278150 ORPHA:1272 OMIM:601088 ORPHA:464738 OMIM:613573 OMIM:618853 OMIM:224230 OMIM:256800 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:618371 OMIM:210720 ORPHA:3455 OMIM:264090 ORPHA:2701 OMIM:617364 OMIM:268400 ORPHA:217335 OMIM:263650 OMIM:210710 OMIM:607721 OMIM:612289 OMIM:619293 OMIM:601358 OMIM:614609 OMIM:614608 OMIM:618362 OMIM:616938 OMIM:615866 OMIM:137940 ORPHA:69735 OMIM:256500 ORPHA:634 OMIM:103285 ORPHA:978 OMIM:604292 OMIM:618180 OMIM:619959 OMIM:243800 OMIM:619648 OMIM:257980 OMIM:150400 ORPHA:902 OMIM:259050

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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