Terminology Service for NFDI4Health
Methylmalonic acidemia
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http://purl.obolibrary.org/obo/HP_0002912
Increased concentration of methylmalonic acid in the blood. [ ]
Term info
Label
Methylmalonic acidemia
comment
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
has alternative id
HP:0003123, HP:0008295
has obo namespace
human_phenotype
id
HP:0002912
Term relations
Equivalent to:
- has_part some (
increased amount and
inheres in some (
methylmalonic acid and
part of some blood) and
has modifier some abnormal)