|OBO ID: DOID:0050802|
|Term Name:||Ehlers-Danlos syndrome spondylodysplastic type 2||Search Ontology:|
|Definition:||An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm|
|Ontology:||Human Disease (DOID:0050802)|
|is a type of:||
OTHER Ehlers-Danlos syndrome spondylodysplastic type 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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