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
..Exaggerated rugosity of the labia majora (HP:0030913)

Term ID:

30913

Name:

Exaggerated rugosity of the labia majora

Synonym:

Scrotum-like labia majora

Definition:

Marked rugae formation of the skin of the labia majora.

Comments:

Reference:

HP:0030913

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of labia majora (HP:0008729)

Fused labia majora (HP:0025486)

Hyperplastic labia majora (HP:0012882)

Hypoplastic labia majora (HP:0000059)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030913	HP:0030913	Exaggerated rugosity of the labia majora	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3	38

Genes (1) :NR5A1

Diseases (1) :OMIM:612965

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