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:
Abnormality of the scalp hair (HP:0100037)

Grandparent Node:
Sparse hair (HP:0008070)

Parent Node:
Abnormality of the frontal hairline (HP:0000599)

Parent Node:
Sparse scalp hair (HP:0002209)

..Starting node
..Sparse anterior scalp hair (HP:0004768)

Term ID:

4768

Name:

Sparse anterior scalp hair

Synonym:

Sparse scalp hair at front of head; Thin scalp hair at front of head

Definition:

Decreased number of head hairs per unit area on the anterior region of the scalp.

Comments:

Reference:

HP:0004768

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:0004768	HP:0004768	Sparse anterior scalp hair	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0004768	HP:0004768	Sparse anterior scalp hair	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0004768	HP:0004768	Sparse anterior scalp hair	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60

Genes (3) :APC2 NSD1 SETD2

Diseases (1) :ORPHA:821

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