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vitamin B12-responsive methylmalonic acidemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0017214

Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). [ Orphanet:28 ]

Synonyms: adenosylcobalamin deficiency vitamin B12-responsive methylmalonic aciduria

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:575193 (MONDO:equivalentTo)
  • SCTID:69614003 (MONDO:equivalentTo)
  • UMLS:C0342720 (MONDO:equivalentTo)
  • Orphanet:28 (MONDO:equivalentTo)
  • GARD:12623 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/575193

http://linkedlifedata.com/resource/umls/id/C0342720

http://identifiers.org/snomedct/69614003

http://www.orpha.net/ORDO/Orphanet_28

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

id

MONDO:0017214

seeAlso

https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia