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Metadata
ID	DOID:0080738
Name	Ehlers-Danlos syndrome spondylodysplastic type 1
Definition	An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/23956117/
Xrefs	MIM:130070
Parent Relationships	is_a Ehlers-Danlos syndrome is_a autosomal recessive disease