Version: 8.0.0Date: Tue Jan 28 2025
Disease
Source: DOID:0060743
Definition: 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 MMAB gene on chromosome 12q24.
Symbol: methylmalonic acidemia cblB type
Synonyms: methylmalonic aciduria cblB type...methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB
Name: methylmalonic acidemia cblB type
Disease
Source: DOID:5517
Definition: A stomach cancer that is located_in the stomach.
Genes: cblb.L (Xla)...CBLB (Hsa)...cblb (Xtr)...Cblb (Rno)...Cblb (Mmu)
Disease
Source: DOID:3907
Definition: A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
Genes: cblb.L (Xla)...CBLB (Hsa)...cblb (Dre)...cblb (Xtr)...Cblb (Rno)
Disease
Source: DOID:9744
Definition: A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
Genes: cblb.L (Xla)...cblb (Xtr)...Cblb (Rno)...Cblb (Mmu)...CBLB (Hsa)
Source: DOID:3908
Definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
Genes: cblb.L (Xla)...Cblb (Mmu)...CBLB (Hsa)...cblb (Xtr)...Cblb (Rno)