|OBO ID: DOID:0080738|
|Term Name:||Ehlers-Danlos syndrome spondylodysplastic type 1||Search Ontology:|
|Definition:||An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/23956117/|
|Ontology:||Human Disease (DOID:0080738)|
|is a type of:||
OTHER Ehlers-Danlos syndrome spondylodysplastic type 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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