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 minora morphology (HP:0012880)

..Starting node
..Fused labia minora (HP:0000063)

Term ID:

Name:

Fused labia minora

Synonym:

Fused inner lips

Definition:

Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.

Comments:

Reference:

HP:0000063

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged labia minora (HP:0008683)

Hypoplastic labia minora (HP:0000064)

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:0000063	HP:0000063	Fused labia minora	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0000063	HP:0000063	Fused labia minora	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000063	HP:0000063	Fused labia minora	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000063	HP:0000063	Fused labia minora	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000063	HP:0000063	Fused labia minora	0	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9	.	31

Genes (4) :ATIC FGFR2 POR ZFPM2

Diseases (4) :ORPHA:250977 OMIM:608688 OMIM:207410 OMIM:616067

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