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homocystinuria without methylmalonic aciduria

Go to external page http://purl.obolibrary.org/obo/MONDO_0018964

Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). [ Orphanet:622 ]

Synonyms: functional methionine synthase deficiency methylcobalamin deficiency homocystinuria without methylmalonic aciduria

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:16537 (Orphanet:622)
  • SCTID:721225009 (MONDO:equivalentTo)
  • Orphanet:622 (MONDO:equivalentTo)
  • UMLS:C4303479 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_622

http://identifiers.org/snomedct/721225009

http://linkedlifedata.com/resource/umls/id/C4303479

id

MONDO:0018964