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:
Abnormal hair pattern (HP:0010720)

Parent Node:
Acquired abnormal hair pattern (HP:0011360)

..Starting node
..Early balding (HP:0002234)

Term ID:

2234

Name:

Early balding

Synonym:

Early balding

Definition:

Loss of scalp hair at an earlier than normal age.

Comments:

Reference:

HP:0002234

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontal balding (HP:0002292)

obsolete Alopecia areata (HP:0002229)

Tufted hairs (HP:0031283)

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:0002234	HP:0002234	Early balding	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0002234	HP:0002234	Early balding	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179

Genes (2) :ANTXR1 APC

Diseases (2) :ORPHA:2067 ORPHA:261584

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