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Metadata
ID	DOID:0080735
Name	Ehlers-Danlos syndrome kyphoscoliotic type 2
Definition	An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. https://pubmed.ncbi.nlm.nih.gov/28306229/
Xrefs	MIM:614557
SKOS	exactMatch MIM:614557
Parent Relationships	is_a Ehlers-Danlos syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance