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Human Disease and Mouse Model Detail
Human Disease Congenital Disorder of Glycosylation, Type IA; CDG1A
OMIM ID: 212065
Synonyms Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly; Cdg IA; CDGIA; Congenital Disorders of Glycosylation, Type I; Jaeken Syndrome; Phosphomannomutase 2 Deficiency
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     PMM2* Pmm2   HomoloGene

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.0
The Jackson Laboratory