Human Phenotype Ontology 
Grandparent Node:
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Genital neoplasm (HP:0010787)help
Parent Node:
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Gonadal neoplasm (HP:0010785)help
..Starting node
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Epididymal neoplasm (HP:0030421)help
Term ID: 30421
Name: Epididymal neoplasm
Synonym:
Definition: A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.
Comments:
Reference: HP:0030421
Genes and Diseases:
 
       Child Nodes:
........expandPapillary cystadenoma of the epididymis (HP:0009715) help

 Sister Nodes: 
..expandGerm cell neoplasia (HP:0100728) help
..expandOvarian neoplasm (HP:0100615) help
..expandTesticular neoplasm (HP:0010788) 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:0030421HP:0030421Epididymal neoplasm0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0030421HP:0030421Epididymal neoplasm0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0030421HP:0030421Epididymal neoplasm0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0030421HP:0030421Epididymal neoplasm0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0030421HP:0030421Epididymal neoplasm0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease90
HP:0030421HP:0030421Epididymal neoplasm0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0030421HP:0030421Epididymal neoplasm0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0030421HP:0009715Papillary cystadenoma of the epididymis1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490


Genes (5) :CCND1 CREBBP EP300 HNF1B VHL

Diseases (4) :ORPHA:892 OMIM:193300 OMIM:180849 ORPHA:93111
 

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