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Metadata
ID DOID:0050439
PURL http://purl.obolibrary.org/obo/DOID_0050439 Copy
Name Usher syndrome
Definition A syndrome characterized by a combination of hearing loss and visual impairment.
http://en.wikipedia.org/wiki/Usher_syndrome
Xrefs

GARD:7843

ICD10CM:Q99.81

ICD10CM:Q99.813

MESH:D052245

MIM:PS276900

NCI:C126329

NCI:C85217

ORDO:886

SNOMEDCT_US_2025_09_01:1010610007

SNOMEDCT_US_2025_09_01:57838006

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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