Details of Disease

General Information of Disease (ID: DISPDRVZ)

Disease Name Usher syndrome type 1F
Synonyms Usher syndrome, type 1F; USHER syndrome, type IF; Usher syndrome type IF; Usher syndrome type 1F; USH1F
Definition
A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.
Disease Hierarchy
DISR29E4: Usher syndrome type 1
DISPDRVZ: Usher syndrome type 1F
Disease Identifiers
MONDO ID
MONDO_0011186
MESH ID
C566586
UMLS CUI
C1865885
OMIM ID
602083
MedGen ID
356393

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCDH15 OTU9C2EH Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.