Human Phenotype Ontology

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:
Abnormality of hair growth rate (HP:0011363)

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

Parent Node:
Slow-growing hair (HP:0002217)

..Starting node
..Slow-growing scalp hair (HP:0100038)

Term ID:

100038

Name:

Slow-growing scalp hair

Synonym:

Slow-growing scalp hair

Definition:

Scalp hair whose growth is slower than normal.

Comments:

Reference:

HP:0100038

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0100038	HP:0100038	Slow-growing scalp hair	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0100038	HP:0100038	Slow-growing scalp hair	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0100038	HP:0100038	Slow-growing scalp hair	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0100038	HP:0100038	Slow-growing scalp hair	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5

Genes (4) :ADAM17 CDSN EGFR KRT74

Diseases (2) :ORPHA:294023 ORPHA:90368

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