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Metadata
ID	DOID:0080734
Name	Ehlers-Danlos syndrome kyphoscoliotic type 1
Definition	An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/28306229/
Xrefs	OMIM:225400
Parent Relationships	is_a Ehlers-Danlos syndrome is_a autosomal recessive disease