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Human Disease and Mouse Model Detail
Human Disease Ehlers-Danlos Syndrome, Progeroid Type, 1; EDSP1
OMIM ID: 130070
Synonyms Dermatan Sulfate Proteoglycan; Ehlers Danlos Syndrome; Galactosyltransferase I Deficiency; PDS, Defective Biosynthesis of; Proteodermatan Sulfate, Defective Biosynthesis of; XGPT Deficiency; Xylosylprotein 4-Beta-Galactosyltransferase 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
     B4galt7 B4GALT7*   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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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory