MeSH Browser

MeSH Supplementary: Glycogen Storage Disease IB
Unique ID: C562594
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C562594
Entry Term(s): GSD Ib; Glucose-6-Phosphate Transport Defect
Registry Number: 0
Heading Mapped to: *Glycogen Storage Disease Type I
Frequency: 49
Note: A hereditary autosomal recessive type I glycogen storage disease caused by mutation in the SLC37A4 gene and characterized by short stature, a protruding abdomen, HEPATOMEGALY; NEUTROPENIA and recurrent BACTERIAL INFECTIONS. OMIM: 232220
Date of Entry: 2012/11/05
Revision Date: 2015/08/18

Glycogen Storage Disease IB MeSH Supplementary Concept Data 2023