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:
Hirsutism (HP:0001007)

Parent Node:
Localized hirsutism (HP:0009889)

..Starting node
..Lumbosacral hirsutism (HP:0009747)

Term ID:

9747

Name:

Lumbosacral hirsutism

Synonym:

Definition:

Abnormally increased hair growth in the lumbosacral region.

Comments:

Reference:

HP:0009747

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial hirsutism (HP:0009937)

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:0009747	HP:0009747	Lumbosacral hirsutism	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219

Genes (1) :ARID1B

Diseases (1) :OMIM:135900

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