Variable Name and Accession

Variable Name: ASD
Variable Accession: phv00112151.v1.p1
Variable belongs to dataset: pht001532.v1.p1 : Kabuki_Subject_Phenotypes: This is a subject phenotype table of unrelated subjects who have been diagnosed with Kabuki Syndrome. This table contains measurements for the presence and absence of atrial and ventricular septic defects, aortic coarctation, bicuspid valves, dysrhythmia, spleen/liver/kidney abnormality and dysfunction, hearing loss, preauricular pits tags, cleft and high arched palate, hypotonia, and developmental delay.

Variable Description

Presence or absence of Atrial Septal Defect (ASD)

Terms Linked to This Variable
SystemCodeTermAuthorMappingLink to Other dbGaP Variables
that Map to the Same Term
UMLS C0018817 Atrial Septal Defects MDM comparable Link
Statistical Summary