Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 morphology (HP:0001595)

Parent Node:
Abnormality of hair texture (HP:0010719)

..Starting node
..Coarse hair (HP:0002208)

Term ID:

2208

Name:

Coarse hair

Synonym:

Coarse hair; Coarse hair texture; Rough hair texture

Definition:

Hair shafts are rough in texture.

Comments:

Reference:

HP:0002208

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brittle hair (HP:0002299)

Curly hair (HP:0002212)

Dry hair (HP:0011359)

Fine hair (HP:0002213)

Uncombable hair (HP:0030056)

Woolly hair (HP:0002224)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002208	HP:0002208	Coarse hair	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002208	HP:0002208	Coarse hair	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0002208	HP:0002208	Coarse hair	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0002208	HP:0002208	Coarse hair	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0002208	HP:0002208	Coarse hair	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0002208	HP:0002208	Coarse hair	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002208	HP:0002208	Coarse hair	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0002208	HP:0002208	Coarse hair	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0002208	HP:0002208	Coarse hair	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0002208	HP:0002208	Coarse hair	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0002208	HP:0002208	Coarse hair	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002208	HP:0002208	Coarse hair	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0002208	HP:0002208	Coarse hair	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0002208	HP:0002208	Coarse hair	0	EPS8L3 CL E G H	79574	21297	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent
HP:0002208	HP:0002208	Coarse hair	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.		54
HP:0002208	HP:0002208	Coarse hair	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002208	HP:0002208	Coarse hair	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0002208	HP:0002208	Coarse hair	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002208	HP:0002208	Coarse hair	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002208	HP:0002208	Coarse hair	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002208	HP:0002208	Coarse hair	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002208	HP:0002208	Coarse hair	0	HR CL E G H	55806	5172	ORPHA:444	Marie Unna hereditary hypotrichosis	HP:0040281 - Very frequent		106
HP:0002208	HP:0002208	Coarse hair	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	HP:0011463 - Childhood onset	52
HP:0002208	HP:0002208	Coarse hair	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0002208	HP:0002208	Coarse hair	0	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.		5
HP:0002208	HP:0002208	Coarse hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.		8
HP:0002208	HP:0002208	Coarse hair	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0002208	HP:0002208	Coarse hair	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002208	HP:0002208	Coarse hair	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0002208	HP:0002208	Coarse hair	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0002208	HP:0002208	Coarse hair	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0002208	HP:0002208	Coarse hair	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0002208	HP:0002208	Coarse hair	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0002208	HP:0002208	Coarse hair	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0002208	HP:0002208	Coarse hair	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		3
HP:0002208	HP:0002208	Coarse hair	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0002208	HP:0002208	Coarse hair	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0002208	HP:0002208	Coarse hair	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0002208	HP:0002208	Coarse hair	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0002208	HP:0002208	Coarse hair	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0002208	HP:0002208	Coarse hair	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0002208	HP:0002208	Coarse hair	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0002208	HP:0002208	Coarse hair	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002208	HP:0002208	Coarse hair	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0002208	HP:0002208	Coarse hair	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0002208	HP:0002208	Coarse hair	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0002208	HP:0002208	Coarse hair	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0002208	HP:0002208	Coarse hair	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002208	HP:0002208	Coarse hair	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0002208	HP:0002208	Coarse hair	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0002208	HP:0002208	Coarse hair	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0002208	HP:0002208	Coarse hair	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0002208	HP:0002208	Coarse hair	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002208	HP:0002208	Coarse hair	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0002208	HP:0002208	Coarse hair	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0002208	HP:0002208	Coarse hair	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent		1
HP:0002208	HP:0002208	Coarse hair	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0002208	HP:0002208	Coarse hair	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0002208	HP:0002208	Coarse hair	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1

Genes (55) :AFF4 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BCS1L C18ORF32 CBL CCDC47 CERT1 EBP EPS8L3 ERCC3 FLNA GNS GON7 GUSB HEATR3 HGSNAT HR IKBKG KRAS KRT74 LPAR6 LZTR1 MRAS NAGLU NECTIN4 NOTCH2 NOTCH3 NRAS OFD1 PADI3 PLOD3 PPP1CB PTPN11 RAF1 RASA2 RIT1 RPS6KA3 RRAS RRAS2 SEC23A SGSH SLC25A24 SMARCAL1 SOS1 SOS2 SPRED2 SREBF1 SUMF1 TGM3 TMCO1 TP63 VPS33A

Diseases (42) :OMIM:616368 ORPHA:357074 OMIM:219200 ORPHA:198 OMIM:304150 OMIM:262000 OMIM:619985 ORPHA:648 OMIM:618268 OMIM:616351 ORPHA:35173 ORPHA:444 OMIM:616390 OMIM:309350 OMIM:252940 OMIM:619603 OMIM:253220 OMIM:620072 OMIM:252930 OMIM:308300 OMIM:194300 OMIM:278150 OMIM:252920 OMIM:613573 ORPHA:955 OMIM:130720 ORPHA:2750 ORPHA:1410 OMIM:612394 OMIM:617506 OMIM:303600 OMIM:607812 ORPHA:50814 OMIM:252900 OMIM:612289 ORPHA:2095 OMIM:242900 OMIM:158310 ORPHA:585 ORPHA:1394 ORPHA:1896 OMIM:617303

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen