Human Phenotype Ontology 
Grandparent Node:
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Abnormal morphology of female internal genitalia (HP:0000008)help
Parent Node:
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Abnormal vagina morphology (HP:0000142)help
..Starting node
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Hydrometrocolpos (HP:0030010)help
Term ID: 30010
Name: Hydrometrocolpos
Synonym:
Definition: Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
Comments:
Reference: HP:0030010
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the vagina (HP:0011026) help
..expandBlind vagina (HP:0040314) help
..expandHydrocolpos (HP:0030711) help
..expandImperforate hymen (HP:0030011) help
..expandSeptate vagina (HP:0001153) help
..expandUrogenital sinus anomaly (HP:0100779) help
..expandVaginal adenosis (HP:0025485) help
..expandVaginal atresia (HP:0000148) help
..expandVaginal dryness (HP:0031088) help
..expandVaginal fistula (HP:0004320) help
..expandVaginal hernia (HP:0100672) help
..expandVaginal neoplasm (HP:0100650) help
..expandVaginal pruritus (HP:0030161) help
..expandVaginal stricture (HP:0025416) help
..expandVaginitis (HP:0030683) 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:0030010HP:0030010Hydrometrocolpos0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0030010HP:0030010Hydrometrocolpos0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0030010HP:0030010Hydrometrocolpos0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040281 - Very frequent69
HP:0030010HP:0030010Hydrometrocolpos0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0030010HP:0030010Hydrometrocolpos0WT1 CL E G H749012796ORPHA:3097Meacham syndromeHP:0040282 - Frequent177


Genes (4) :DYNC2LI1 GLI3 MKKS WT1

Diseases (5) :OMIM:617088 ORPHA:672 ORPHA:2473 OMIM:236700 ORPHA:3097
 

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