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Ontology Browser

Term:
Usher syndrome type 2A (DOID:0110838)
Annotations: Rat: (5) Mouse: (5) Human: (7) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
Usher syndrome type 2A  
An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)
Usher syndrome type 2C  
Usher syndrome type 2D  
Usher Syndrome, Type 2B  

Synonyms
Exact Synonyms: USH2A ;   Usher syndrome, type IIA
Broad Synonyms: USH2A-related disorder
Primary IDs: MESH:C536490
Alternate IDs: OMIM:276901
Xrefs: GARD:5440
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9624053 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.