Human Disease and Mouse Model Detail
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Human Disease
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Ehlers-Danlos Syndrome, Musculocontractural Type
OMIM ID: 601776
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Synonyms
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Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome;
Adducted Thumb-Clubfoot Syndrome; ATCS;
Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis;
Dundar Syndrome;
Ehlers-Danlos Syndrome, Type Vib, Formerly; EDS6B, FORMERLY
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Genes and
mouse models
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Mutations in human and/or mouse homologs are associated with this disease
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*Gene is associated with the disease in this species |
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Chst14
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CHST14*
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1:1 Homology
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Analysis Tools