Visualize Submit Comment
Metadata
ID DOID:0061286
PURL http://purl.obolibrary.org/obo/DOID_0061286 Copy
Name glycogen storage disease XI
Definition A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15.
https://pubmed.ncbi.nlm.nih.gov/7449146/
Xrefs

MIM:612933

Synonyms

lactate dehydrogenase A deficiency [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a glycogen storage disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker