Variable Name and Accession

Variable Name: Spleen_liver_abnormality
Variable Accession: phv00112156.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 spleen or liver abnormality

Terms Linked to This Variable
SystemCodeTermAuthorMappingLink to Other dbGaP Variables
that Map to the Same Term
UMLS C0700587 Anomalies of spleen, congenital MDM comparable Link
UMLS C4021780 Abnormality of the liver MDM comparable Link
Statistical Summary