OBO ID: DOID:0080735
Term Name: Ehlers-Danlos syndrome kyphoscoliotic type 2 Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   (DOID:0080735)
OTHER Ehlers-Danlos syndrome kyphoscoliotic type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DSE Ehlers-Danlos syndrome, musculocontractural type 2 615539
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None