Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/602083 http://purl.bioontology.org/ontology/OMIM/602083
Preferred Name	USHER SYNDROME, TYPE IF
Synonyms	USH1F
Type	http://www.w3.org/2002/07/owl#Class

altLabel	USH1F
prefLabel	USHER SYNDROME, TYPE IF
Gene Symbol	DFNB23 PCDH15 USH1F
Scope Statement	Caused by mutation in the protocadherin 15 gene (PCDH15, 605514.0001) [MOLECULAR BASIS] Digenic form type ID/F caused by digenic mutation in the CDH23 (605516) and PCDH15 genes [MISCELLANEOUS] Allelic to deafness, autosomal recessive 23 (609533) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003954 http://purl.bioontology.org/ontology/OMIM/MTHU005565 http://purl.bioontology.org/ontology/OMIM/MTHU000322
tui	T047
Gene Locus	10q21-q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602083
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1865885
OMIM Entry Type	3
OMIM MimType Value	pound

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