Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/601067 http://purl.bioontology.org/ontology/OMIM/601067
Preferred Name	USHER SYNDROME, TYPE ID
Synonyms	USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC USH1D/F, CDH23/PCDH15, DIGENIC USH1D
Type	http://www.w3.org/2002/07/owl#Class

altLabel	USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC USH1D/F, CDH23/PCDH15, DIGENIC USH1D
prefLabel	USHER SYNDROME, TYPE ID
Gene Symbol	DFNB12 USH1D PITA5 CDH23
Scope Statement	Second most common form of Usher syndrome type I [MISCELLANEOUS] Allelic to deafness, autosomal recessive 12 (601386) [MISCELLANEOUS] Caused by mutation in the cadherin 23 gene (CDH23, 605516.0001) [MOLECULAR BASIS] Digenic form type ID/F caused by digenic mutation in the CDH23 and PCDH15 (605514) genes [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003302 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU006174
tui	T047
Gene Locus	10q21-q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601067
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU031722 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1832845 C3152102
Moved from	611581
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display