Metadata | |
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ID | DOID:0110827 |
Name | Usher syndrome type 2 |
Definition | An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. https://ghr.nlm.nih.gov/condition/usher-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1341/, https://www.ncbi.nlm.nih.gov/pubmed/2909824, https://www.ncbi.nlm.nih.gov/pubmed/9624053 |
Xrefs |
SNOMEDCT_US_2021_09_01:232058008 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
USH2 [EXACT] |
Parent Relationships |
is_a Usher syndrome |