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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; Jaeken Syndrome; Phosphomannomutase 2 Deficiency
Genes and
mouse models 		Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Pmm2 PMM2*   1:1 Homology
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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Send questions and comments to User Support. 		last database update
05/22/2013
MGI 5.13 		The Jackson Laboratory