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vitamin B12-responsive methylmalonic acidemia type cblA

Go to external page http://purl.obolibrary.org/obo/MONDO_0009613

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. [ NCIT:C142171 ]

Synonyms: vitamin B12-responsive methylmalonic acidemia type cblA methylmalonic acidemia, cblA type methylmalonic aciduria, cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type methylmalonic aciduria cblA type cobalamin A disease methylmalonic acidemia cblA type vitamin B12-responsive methylmalonic aciduria type cblA Methylmalonic aciduria, vitamin B12-responsive, cblA type cobalamin B disease methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:82245003 (MONDO:equivalentTo)
  • GARD:5500 (Orphanet:79310)
  • SCTID:73843004 (MONDO:equivalentTo)
  • OMIM:251100 (Orphanet:79310/e)
  • UMLS:C1855109 (OMIM:251100)
  • DOID:0060742 (MONDO:equivalentTo)
  • Orphanet:79310 (OMIM:251100)
  • NCIT:C142171 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4917

exactMatch

http://identifiers.org/snomedct/73843004

http://purl.obolibrary.org/obo/DOID_0060742

http://purl.obolibrary.org/obo/NCIT_C142171

http://identifiers.org/snomedct/82245003

http://linkedlifedata.com/resource/umls/id/C1855109

https://omim.org/entry/251100

http://www.orpha.net/ORDO/Orphanet_79310

has related synonym

cblA methylmalonic acidemia

cblA - cobalamin locus a

methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type

cobalamin locus B variant

cobalamin locus A variant

methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type

cblB methylmalonic acidemia

MMA Cbl A type

cblB - cobalamin locus b

id

MONDO:0009613

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009613

Term relations