Usher syndrome type 1
Usher syndrome type 1D
https://github.com/monarch-initiative/mondo/issues/4521
https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d
Ush1D/F, Cdh23/Pcdh15, digenic
OMIM:601067
USHER syndrome, type ID
ICD10CM:H35.5
Usher syndrome, type 1D
Usher syndrome type 1D
DOID:0110831
Usher syndrome, type 1D/F digenic
USH1D
GARD:5438
MONDO:0010984
A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.
Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic
Usher syndrome type ID