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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009612

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. [ Orphanet:27 ]

Synonyms: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency vitamin B12-unresponsive methylmalonic aciduria methylmalonyl-Coenzyme A mutase deficiency methylmalonyl-CoA mutase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3586 (Orphanet:27)
  • OMIM:251000 (Orphanet:27/e)
  • UMLS:C1855114 (Orphanet:27)
  • MESH:C565390 (MONDO:equivalentTo)
  • Orphanet:27 (OMIM:251000)
  • DOID:0060740 (MONDO:equivalentTo)
  • NCIT:C148366 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_27

http://purl.obolibrary.org/obo/DOID_0060740

https://omim.org/entry/251000

http://identifiers.org/mesh/C565390

http://purl.obolibrary.org/obo/NCIT_C148366

http://linkedlifedata.com/resource/umls/id/C1855114

has related synonym

MCM deficiency

methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency

methylmalonic aciduria, mut type

methylmalonic aciduria, mut(-) type

vitamin B12-unresponsive methylmalonic acidemia

methylmalonic aciduria, mut(0) type

id

MONDO:0009612

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009612

Term relations