World Of Taxonomy
C168975Level 5

Ehlers-Danlos Syndrome, Musculocontractural Type 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.

**Synonyms:** - EDSMC1

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