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Ontology Browser
Term:
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (DOID:0111039)
Annotations: Rat: (23) Mouse: (24) Human: (24) Chinchilla: (23) Bonobo: (24) Dog: (23) Squirrel: (21) Pig: (23) Naked Mole-rat: (23) Green Monkey: (24)
Parent Terms Term With Siblings Child Terms
hypermethioninemia +     
glycine N-methyltransferase deficiency  
hypermethioninemia due to adenosine kinase deficiency  
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase  
A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)

Synonyms
Exact Synonyms: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency ;   hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency ;   psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Primary IDs: MIM:613752
Xrefs: GARD:13177 ;   ORDO:88618
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15024124 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2380820 "DO" "DO"

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