Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PROTOCADHERIN 15
Synonyms	USHER SYNDROME, TYPE ID/F, DIGENIC
ID	http://purl.bioontology.org/ontology/OMIM/605514
altLabel	USHER SYNDROME, TYPE ID/F, DIGENIC USHER SYNDROME, TYPE IF DEAFNESS, AUTOSOMAL RECESSIVE 23 PCDH15
cui	C1865885 C1422830 C1836027 C3276419
Gene Locus	10q21-q22
Gene Symbol	DFNB23 USH1F PCDH15
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/605514.0001 http://purl.bioontology.org/ontology/OMIM/605514.0003 http://purl.bioontology.org/ontology/OMIM/605514.0002 http://purl.bioontology.org/ontology/OMIM/605514.0008 http://purl.bioontology.org/ontology/OMIM/605514.0007 http://purl.bioontology.org/ontology/OMIM/605514.0009 http://purl.bioontology.org/ontology/OMIM/605514.0010 http://purl.bioontology.org/ontology/OMIM/605514.0005 http://purl.bioontology.org/ontology/OMIM/605514.0004 http://purl.bioontology.org/ontology/OMIM/605514.0006
MIMTYPEMEANING	Gene with known sequence
notation	605514
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	PROTOCADHERIN 15
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP189384-3	Logical Observation Identifier Names and Codes	CUI
http://purl.obolibrary.org/obo/PR_000012346	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C563705	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566586	Medical Subject Headings	CUI