Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the genital system (HP:0000078)help
Grandparent Node:
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Neoplasm of the genitourinary tract (HP:0007379)help
Parent Node:
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Abnormal vagina morphology (HP:0000142)help
Parent Node:
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Genital neoplasm (HP:0010787)help
..Starting node
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Vaginal neoplasm (HP:0100650)help
Term ID: 100650
Name: Vaginal neoplasm
Synonym: Vaginal neoplasia; Vaginal tumor; Vaginal tumour
Definition: A tumor (abnormal growth of tissue) of the vagina.
Comments:
Reference: HP:0100650
Genes and Diseases:
 
       Child Nodes:
........expandVaginal clear cell adenocarcinoma (HP:0031521) help
........expandCervical clear cell adenocarcinoma (HP:0031522) help

 Sister Nodes: 
..expandFallopian tube carcinoma (HP:0030394) help
..expandGonadal neoplasm (HP:0010785) help
..expandNeoplasm of the male external genitalia (HP:0100848) help
..expandUterine neoplasm (HP:0010784) help
..expandVulvar neoplasm (HP:0030416) 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:0100650HP:0100650Vaginal neoplasm0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0100650HP:0100650Vaginal neoplasm0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0100650HP:0100650Vaginal neoplasm0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0100650HP:0100650Vaginal neoplasm0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0100650HP:0100650Vaginal neoplasm0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0100650HP:0100650Vaginal neoplasm0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0100650HP:0100650Vaginal neoplasm0FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancerHP:0040283 - Occasional301
HP:0100650HP:0100650Vaginal neoplasm0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0100650HP:0100650Vaginal neoplasm0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0100650HP:0100650Vaginal neoplasm0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0100650HP:0031522Cervical clear cell adenocarcinoma1 CL E G H
HP:0100650HP:0031521Vaginal clear cell adenocarcinoma1 CL E G H


Genes (10) :BUB1 BUB1B BUB3 CEP57 COL4A5 COL4A6 FH NAB2 STAT6 TRIP13

Diseases (4) :ORPHA:1052 ORPHA:1018 ORPHA:523 ORPHA:2126
 

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