|
| General Information | |||
|---|---|---|---|
| Term | combined malonic and methylmalonic acidemia | ID (Ontology) | DOID:0111263 (Human Disease) |
| Definition | An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. | ||
| Also Known As | "CMAMMA" ; "combined malonic and methylmalonic aciduria" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__ amino acid metabolic disorder | |__organic acidemia_____________| combined malonic and methylmalonic acidemia 1 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease organic acidemia |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:10818 MESH:C580002 MIM:614265 ORDO:289504 SNOMEDCT_US_2023_03_01:702365002 UMLS_CUI:C3280314 |
|||