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 labia morphology (HP:0000058)

Parent Node:
Abnormal labia minora morphology (HP:0012880)

Parent Node:
Labial hypertrophy (HP:0000065)

..Starting node
..Enlarged labia minora (HP:0008683)

Term ID:

8683

Name:

Enlarged labia minora

Synonym:

Hypertrophic labia minora; Labia minora hypertrophy

Definition:

Increase in size of the folds of skin between the outer labia.

Comments:

Reference:

HP:0008683

Genes and Diseases:

Child Nodes:

Sister Nodes:

Labial pseudohypertrophy (HP:0008739)

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:0008683	HP:0008683	Enlarged labia minora	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0008683	HP:0008683	Enlarged labia minora	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141

Genes (2) :ESCO2 KAT6B

Diseases (2) :OMIM:268300 OMIM:606170

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