OBO ID: DOID:0050802
Term Name: Ehlers-Danlos syndrome spondylodysplastic type 2 Search Ontology:
Synonyms:
  • defective biosynthesis of proteodermatan sulfate
  • Ehlers-Danlos syndrome progeroid type
  • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
  • XGPT deficiency
  • xylosylprotein 4-beta-galactosyltransferase deficiency
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
References:
Ontology: Human Disease   (DOID:0050802)
OTHER Ehlers-Danlos syndrome spondylodysplastic type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2 615349
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None