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combined malonic and methylmalonic acidemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0013661

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. [ Orphanet:289504 ]

Synonyms: CMAMMA combined malonic and methylmalonic acidemia combined malonic and methylmalonic aciduria

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:614265 (Orphanet:289504/e)
  • MESH:C580002 (MONDO:equivalentTo)
  • SCTID:702365002 (MONDO:equivalentTo)
  • UMLS:C3280314 (Orphanet:289504)
  • GARD:10818 (Orphanet:289504)
  • Orphanet:289504 (OMIM:614265)
  • DOID:0111263 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3280314

http://identifiers.org/mesh/C580002

https://omim.org/entry/614265

http://www.orpha.net/ORDO/Orphanet_289504

http://identifiers.org/snomedct/702365002

http://purl.obolibrary.org/obo/DOID_0111263

id

MONDO:0013661

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013661

Term relations