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methylmalonic aciduria and homocystinuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0016826

An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). [ https://orcid.org/0000-0001-5208-3432 Orphanet:26 ]

Synonyms: methylmalonic aciduria with homocystinuria combined defect in adenosylcobalamin and methylcobalamin synthesis

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3579 (Orphanet:26)
  • Orphanet:26 (MONDO:equivalentTo)
  • OMIMPS:277400 (MONDO:equivalentTo)
  • MESH:C537359 (Orphanet:26/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

exactMatch

https://omim.org/phenotypicSeries/PS277400

http://www.orpha.net/ORDO/Orphanet_26

http://identifiers.org/mesh/C537359

has related synonym

methylmalonic acidemia and homocystinemia

id

MONDO:0016826

seeAlso

https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria