Term ID: | 298 |
Name: | Adenosine monophosphate deaminase deficiency |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D011686 |
TreeNumbers: | C16.320.565.798/C538234 |C18.452.648.798/C538234 |
Synonyms: | Myoadenylate Deaminase Deficiency, Myopathy due to |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease |
Reference: |
MedGen: C538234
MeSH: C538234
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |