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Metadata
ID	DOID:0080736
Name	Ehlers-Danlos syndrome musculocontractural type 1
Definition	An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. https://pubmed.ncbi.nlm.nih.gov/28306229/
Xrefs	MIM:601776
Parent Relationships	is_a Ehlers-Danlos syndrome is_a autosomal recessive disease