Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of female external genitalia (HP:0000055)help
Parent Node:
expandAbnormal labia morphology (HP:0000058)help
..Starting node
..expandLabial hypertrophy (HP:0000065)help
Term ID: 65
Name: Labial hypertrophy
Synonym: Enlarged vaginal lips; Enlargement of the labia; Enlargement of the vaginal lips
Definition:
Comments:
Reference: HP:0000065
Genes and Diseases:
 
       Child Nodes:
........expandEnlarged labia minora (HP:0008683) help
........expandLabial pseudohypertrophy (HP:0008739) help

 Sister Nodes: 
..expandAbnormal labia majora morphology (HP:0012881) help
..expandAbnormal labia minora morphology (HP:0012880) help
..expandLabial hypoplasia (HP:0000066) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000065HP:0000065Labial hypertrophy0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000065HP:0000065Labial hypertrophy0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000065HP:0000065Labial hypertrophy0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000065HP:0000065Labial hypertrophy0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000065HP:0000065Labial hypertrophy0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0000065HP:0000065Labial hypertrophy0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0000065HP:0000065Labial hypertrophy0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0000065HP:0000065Labial hypertrophy0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000065HP:0008683Enlarged labia minora1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000065HP:0008683Enlarged labia minora1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000065HP:0008739Labial pseudohypertrophy1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645


Genes (8) :AGPAT2 BSCL2 ESCO2 HYMAI INSR KAT6B LMNA PLAGL1

Diseases (7) :OMIM:608594 OMIM:269700 OMIM:268300 ORPHA:96191 ORPHA:508 OMIM:606170 OMIM:151660
 

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