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methylmalonic aciduria and homocystinuria type cblC

Go to external page http://purl.obolibrary.org/obo/MONDO_0010184

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. [ Orphanet:79282 ]

Synonyms: cobalamin c disease combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC methylmalonic aciduria with homocystinuria, type cblC methylmalonic aciduria and homocystinuria type cblC cobalamin C defect cobalamin C deficiency cblC defect

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050715 (MONDO:equivalentTo)
  • NCIT:C142174 (MONDO:equivalentTo)
  • Orphanet:79282 (OMIM:277400)
  • GARD:12128 (Orphanet:79282)
  • OMIM:277400 (Orphanet:79282/e)
  • SCTID:74653006 (MONDO:equivalentTo)
  • UMLS:C1848561 (OMIM:277400)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/NCIT_C142174

http://purl.obolibrary.org/obo/DOID_0050715

https://omim.org/entry/277400

http://www.orpha.net/ORDO/Orphanet_79282

http://identifiers.org/snomedct/74653006

http://linkedlifedata.com/resource/umls/id/C1848561

has related synonym

methylmalonic aciduria and homocystinuria, cblC type, digenic

methylmalonic aciduria and homocystinuria cblC

methylmalonic acidemia with homocystinuria, type cblC

cobalamin locus c variant

methylmalonic acidemia with homocystinuria type cblC

cblC methylmalonic acidemia and homocystinuria

methylmalonic acidemia and homocystinuria cblC

MAHCC

cblC - cobalamin locus c

vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase

methylmalonic aciduria and homocystinuria, cblC type

cblC

methylmalonic aciduria and homocystinuria, vitamin B12-responsive

methylmalonic acidemia and homocystinuria, cblC type

id

MONDO:0010184

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010184