OBO ID: DOID:0080735 |
Term Name: | Ehlers-Danlos syndrome kyphoscoliotic type 2 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0080735 ) |
OTHER Ehlers-Danlos syndrome kyphoscoliotic type 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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