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Ehlers-Danlos syndrome progeroid type

Go to external page http://purl.obolibrary.org/obo/DOID_0050802

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://purl.obolibrary.org/obo/ECO_0007640 http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

Ehlers-Danlos syndrome progeroid type

Synonyms
  • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
  • XGPT deficiency
  • defective biosynthesis of proteodermatan sulfate
  • xylosylprotein 4-beta-galactosyltransferase deficiency
database cross reference
Subsets

DO_rare_slim

created by

lschriml

creation date

2013-12-02T11:55:24Z

has obo namespace

disease_ontology

id

DOID:0050802