Vitamin b12-unresponsive methylmalonic acidemia

Disease Term Disease ID Gene Symbol Classification References Source
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
612542OMIM:612542
FUT2 Unknown — CTD ClinVar
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA
79310
MMAA Unknown — Orphanet
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB
79311
MMAB Unknown — Orphanet
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA, TYPE CBLDV2
308442C5679970
MMADHC Unknown — Disgenet Orphanet
Vitamin B12-unresponsive methylmalonic acidemia TYPE MUT-
79312MONDO:0019267
MMUT Unknown — GenCC Orphanet
Vitamin B12-unresponsive methylmalonic acidemia TYPE MUT0
289916MONDO:0017360
MMUT Unknown
20301409
GWAS catalog Orphanet