Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the inner ear (HP:0000359)help
Grandparent Node:
expand
Neoplasm of the ear (HP:0012780)help
Parent Node:
expand
Neoplasm of the inner ear (HP:0040096)help
..Starting node
..expand
Endolymphatic sac tumor (HP:0030393)help
Term ID: 30393
Name: Endolymphatic sac tumor
Synonym: Aggressive papillary middle ear tumor; Aggressive papillary middle ear tumour; Endolymphatic sac tumour; Heffner tumor; Heffner tumour; Low-grade adenocarcinoma of endolymphatic sac origin
Definition: A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).
Comments:
Reference: HP:0030393
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandVestibular schwannoma (HP:0009588) 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:0030393HP:0030393Endolymphatic sac tumor0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0030393HP:0030393Endolymphatic sac tumor0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490


Genes (2) :CCND1 VHL

Diseases (1) :ORPHA:892
 

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