Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Absence of labia majora (HP:0008729)

Term ID:

8729

Name:

Absence of labia majora

Synonym:

Absent vaginal lips

Definition:

Comments:

Reference:

HP:0008729

Genes and Diseases:

Child Nodes:

Sister Nodes:

Exaggerated rugosity of the labia majora (HP:0030913)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008729	HP:0008729	Absence of labia majora	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0008729	HP:0008729	Absence of labia majora	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0008729	HP:0008729	Absence of labia majora	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166

Genes (2) :CHRNG MYH3

Diseases (2) :ORPHA:2990 OMIM:265000

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