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Human Disease and Mouse Model Detail
Human Disease Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies; EDSSLA
OMIM ID: 130070
Human Phenotype Ontology associations
Synonyms Dermatan Sulfate Proteoglycan; Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome, Progeroid Type, 1; EDSP1; 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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     B4GALT7* B4galt7   HomoloGene and HGNC

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 6.07
The Jackson Laboratory