METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE

METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT

http://purl.bioontology.org/ontology/OMIM/277380

METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT

COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF

METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE

cblF

COBALAMIN F DISEASE

VITAMIN B12 LYSOSOMAL RELEASE DEFECT

MAHCF

VITAMIN B12 STORAGE DISEASE

C1848578

6q13

NESI

MAHCF

LMBRD1

LMBD1

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU028680

http://purl.bioontology.org/ontology/OMIM/MTHU037108

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU008399

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU008826

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU008840

http://purl.bioontology.org/ontology/OMIM/MTHU008854

http://purl.bioontology.org/ontology/OMIM/MTHU008858

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU028681

http://purl.bioontology.org/ontology/OMIM/MTHU008860

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU037634

http://purl.bioontology.org/ontology/OMIM/MTHU037722

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU008825

http://purl.bioontology.org/ontology/OMIM/MTHU037510

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU008859

http://purl.bioontology.org/ontology/OMIM/MTHU008853

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU008841

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU028684

Phenotype description, molecular basis known.

277380

3

pound

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE

See also CblC (277400) [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]

Responsive to vitamin B12 therapy [MISCELLANEOUS]

Caused by mutation in the LMBR1 domain-containing protein 1 gene (LMBRD1, 612625.0001). [MOLECULAR BASIS]

T047