Preferred Label : atrioventricular septal defect 1;
Obsolete resource : true;
Approved symbol HGNC : AVSD1;
Alias symbols HGNC : AVSD; AVCD;
Chromosome HGNC : 1p31-p21;
Locus type HGNC : phenotype;
Origin ID : HGNC:12721;
UMLS CUI : C1421471;
Automatic exact mappings (from CISMeF team)
Semantic type(s)