Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/613646
http://purl.bioontology.org/ontology/OMIM/613646
Preferred Name

METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Synonyms
MATR
METHYLMALONIC ACIDEMIA, TCblR TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MATR
METHYLMALONIC ACIDEMIA, TCblR TYPE
prefLabel
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Gene Symbol
TCBLR
8D6
8D6A
CD320
Scope Statement
Most cases are asymptomatic and detected by newborn screening [MISCELLANEOUS]
Caused by mutation in the CD320 antigen gene (CD320, 606475.0001). [MOLECULAR BASIS]
type
Has manifestation
tui
T047
Gene Locus
19p13.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
613646
Semantic type UMLS property
Has inheritance type
cui
C4749905
OMIM Entry Type
3
OMIM MimType Value
pound
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