Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
methylmalonic acidemia cblA type  
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO)
methylmalonic acidemia cblB type  
methylmalonic acidemia due to transcobalamin receptor defect  
Methylmalonic Aciduria and Homocystinuria +   
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency  

Synonyms
Exact Synonyms: CblA methylmalonic acidemia ;   METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A ;   MMA due to MCM deficiency ;   cobalamin A disease ;   methylmalonic acidemia cb1A type ;   methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency ;   methylmalonic aciduria (cobalamin deficiency) cblA type ;   methylmalonic aciduria cb1A type ;   methylmalonic aciduria cblA type ;   methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type ;   methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type ;   methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type
Primary IDs: MESH:C537360
Alternate IDs: OMIM:251100
Xrefs: EFO:0009073 ;   NCI:C142171 ;   ORDO:79310
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12438653 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/5686220 "DO" "DO"

paths to the root