|OBO ID: DOID:0080735|
|Term Name:||Ehlers-Danlos syndrome kyphoscoliotic type 2||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0080735)|
|is a type of:||
OTHER Ehlers-Danlos syndrome kyphoscoliotic type 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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