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Human Disease and Mouse Model Detail
Human Disease Ehlers-Danlos Syndrome, Musculocontractural Type, 1; EDSMC1
OMIM ID: 601776
Human Phenotype Ontology associations
Synonyms Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome; Adducted Thumb-Clubfoot Syndrome; ATCS; Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis; Dundar Syndrome; Edsmc; Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome, Type Vib, Formerly; EDS6B, FORMERLY
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
     CHST14* Chst14   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