OBO ID: DOID:0050802
Term Name: Ehlers-Danlos syndrome progeroid type Search Ontology:
Synonyms:
  • defective biosynthesis of proteodermatan sulfate
  • 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. (3)
References:
  • OMIM:615349
  • ORDO:75496
  • SNOMEDCT_US_2019_09_01:720861000
  • UMLS_CUI:C1869122
Ontology: Human Disease   (DOID:0050802)
OTHER Ehlers-Danlos syndrome progeroid type 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