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 majora morphology (HP:0012881)

..Starting node
..Fused labia majora (HP:0025486)

Term ID:

25486

Name:

Fused labia majora

Synonym:

Definition:

The outer labia are sealed together.

Comments:

Reference:

HP:0025486

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of labia majora (HP:0008729)

Exaggerated rugosity of the labia majora (HP:0030913)

Hyperplastic labia majora (HP:0012882)

Hypoplastic labia majora (HP:0000059)

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:0025486	HP:0025486	Fused labia majora	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0025486	HP:0025486	Fused labia majora	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76

Genes (2) :AR POR

Diseases (2) :ORPHA:90797 ORPHA:95699

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