Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: CPLANE2 (Hsa)

visceral heterotaxy

Disease
Source: DOID:0050545
Definition: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
Genes: CPLANE2 (Hsa)

VACTERL association

Disease
Source: DOID:14679
Definition: A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Genes: CPLANE2 (Hsa)