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 growth (HP:0040170)

..Starting node
..Abnormality of hair growth rate (HP:0011363)

Term ID:

11363

Name:

Abnormality of hair growth rate

Synonym:

Abnormality of hair growth rate; Abnormality of pace of hair growth; Abnormality of speed of hair growth

Definition:

Hair whose growth rate deviates from the norm.

Comments:

Reference:

HP:0011363

Genes and Diseases:

Child Nodes:

........

Slow-growing hair (HP:0002217)

................... HP:0100038 Slow-growing scalp hair

Sister Nodes:

Loose anagen hair (HP:0040169)

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:0011363	HP:0011363	Abnormality of hair growth rate	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix		63
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair		2
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair		1
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair		5
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant		5
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix		3
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix		65
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix		10
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair		12
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair		8
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12		1
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011363	HP:0011363	Abnormality of hair growth rate	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0011363	HP:0002217	Slow-growing hair	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0011363	HP:0002217	Slow-growing hair	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0011363	HP:0002217	Slow-growing hair	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0011363	HP:0002217	Slow-growing hair	1	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011363	HP:0002217	Slow-growing hair	1	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0011363	HP:0002217	Slow-growing hair	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	63
HP:0011363	HP:0002217	Slow-growing hair	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0011363	HP:0002217	Slow-growing hair	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0011363	HP:0002217	Slow-growing hair	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0011363	HP:0002217	Slow-growing hair	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0011363	HP:0002217	Slow-growing hair	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0011363	HP:0002217	Slow-growing hair	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0011363	HP:0002217	Slow-growing hair	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0011363	HP:0002217	Slow-growing hair	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0011363	HP:0002217	Slow-growing hair	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0011363	HP:0002217	Slow-growing hair	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040282 - Frequent	2
HP:0011363	HP:0002217	Slow-growing hair	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040282 - Frequent	1
HP:0011363	HP:0002217	Slow-growing hair	1	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0011363	HP:0002217	Slow-growing hair	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040282 - Frequent	5
HP:0011363	HP:0002217	Slow-growing hair	1	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.	5
HP:0011363	HP:0002217	Slow-growing hair	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	3
HP:0011363	HP:0002217	Slow-growing hair	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	65
HP:0011363	HP:0002217	Slow-growing hair	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	10
HP:0011363	HP:0002217	Slow-growing hair	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040282 - Frequent	12
HP:0011363	HP:0002217	Slow-growing hair	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040282 - Frequent	8
HP:0011363	HP:0002217	Slow-growing hair	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0011363	HP:0002217	Slow-growing hair	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0011363	HP:0002217	Slow-growing hair	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0011363	HP:0002217	Slow-growing hair	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011363	HP:0002217	Slow-growing hair	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0011363	HP:0002217	Slow-growing hair	1	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.	1
HP:0011363	HP:0002217	Slow-growing hair	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0011363	HP:0002217	Slow-growing hair	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011363	HP:0002217	Slow-growing hair	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0011363	HP:0100038	Slow-growing scalp hair	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0011363	HP:0100038	Slow-growing scalp hair	2	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011363	HP:0100038	Slow-growing scalp hair	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0011363	HP:0100038	Slow-growing scalp hair	2	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5

Genes (29) :ADAM17 BRAF CDSN CST6 DSG4 EDAR EDARADD EGFR GJA1 GJB6 GTF2E2 IFT122 KRAS KRT25 KRT71 KRT74 KRT81 KRT83 KRT86 LIPH LPAR6 MAP2K1 MAP2K2 NR2F1 PPP1CB RNF113A RPL21 TP63 TRPS1

Diseases (21) :ORPHA:294023 ORPHA:1340 OMIM:115150 ORPHA:90368 OMIM:618535 ORPHA:573 OMIM:129490 OMIM:164200 ORPHA:2710 OMIM:129500 OMIM:616943 OMIM:218330 ORPHA:170 OMIM:194300 OMIM:615722 OMIM:617506 OMIM:300953 OMIM:615885 ORPHA:1896 OMIM:129400 OMIM:190350

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