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methylmalonic aciduria, cblB type

Go to external page http://purl.obolibrary.org/obo/MONDO_0009614

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. [ NCIT:C142172 ]

Synonyms: vitamin B12-responsive methylmalonic acidemia type cblB vitamin B12-responsive methylmalonic aciduria, type cblB methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, cblB type methylmalonic aciduria, cblB type methylmalonic acidemia cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type methylmalonic acidemia, cblB type

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060743 (MONDO:equivalentTo)
  • GARD:9479 (Orphanet:79311)
  • NCIT:C142172 (MONDO:equivalentTo)
  • UMLS:C1855102 (OMIM:251110)
  • OMIM:251110 (Orphanet:79311/e)
  • Orphanet:79311 (OMIM:251110)
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/4916

exactMatch

http://purl.obolibrary.org/obo/DOID_0060743

http://purl.obolibrary.org/obo/NCIT_C142172

https://omim.org/entry/251110

http://linkedlifedata.com/resource/umls/id/C1855102

http://www.orpha.net/ORDO/Orphanet_79311

has related synonym

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

id

MONDO:0009614

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009614

Term relations