Preferred Label : Usher syndrome 1E (autosomal recessive, severe);
Obsolete resource : true;
Approved symbol HGNC : USH1E;
Chromosome HGNC : 21q21;
Locus type HGNC : phenotype;
Origin ID : HGNC:12599;
UMLS CUI : C1421380;
Automatic exact mappings (from CISMeF team)
Orphanet gene
Semantic type(s)