vitamin B12-responsive methylmalonic acidemia

vitamin B12-responsive methylmalonic acidemia

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

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

Orphanet:28 (MONDO:equivalentTo)
GARD:12623 (Orphanet:28)
SCTID:69614003 (MONDO:equivalentTo)

Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/snomedct/69614003

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

excluded subClassOf

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

MONDO:0017214

seeAlso

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

Term relations

Subclass of: