Preferred Label : 10p13-p14 Deletion Syndrome;
NCIt related terms : DGS2; DiGeorge Syndrome Type 2;
Alternative definition : NICHD: A congenital condition caused by a deletion on the short arm of chromosome
10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere,
may be responsible for the clinical findings. The condition is characterized by immunodeficiency,
unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia
with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated
anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism,
and increased susceptibility to infections.;
Origin ID : C130982;
UMLS CUI : C1832431;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
disease_mapped_to_chromosome