Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the middle ear (HP:0000370)help
Grandparent Node:
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Neoplasm of the ear (HP:0012780)help
Parent Node:
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Morphological abnormality of the middle ear (HP:0008609)help
Parent Node:
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Neoplasm of the middle ear (HP:0100799)help
..Starting node
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Cholesteatoma (HP:0009797)help
Term ID: 9797
Name: Cholesteatoma
Synonym:
Definition: Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Comments:
Reference: HP:0009797
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009797HP:0009797Cholesteatoma0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM14043519601653
HP:0009797HP:0009797Cholesteatoma0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM13673519601653
HP:0009797HP:0009797Cholesteatoma0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM114310887601205
HP:0009797HP:0009797Cholesteatoma0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM113610887601205
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :EYA1 SIX1

Diseases (1) :113650
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.