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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Diseases (C)
Parent Node: Methylmalonic acidemia (C537358)
..Starting node ..METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Child Nodes:
Sister Nodes:
..METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7155

Name:

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT

Definition:

Alternative IDs:

ParentIDs:

MESH:C537358

TreeNumbers:

C16.320.565.100/C537358/613646 |C18.452.648.100/C537358/613646

Synonyms:

METHYLMALONIC ACIDEMIA, TCblR TYPE

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 613646
MeSH: 613646
OMIM: 613646;

Genes: CD320;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0012120	Methylmalonic aciduria

Disease Causing ClinVar Variants