Ehlers-Danlos syndrome spondylodysplastic type 2

Term ID

DOID:0050802

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

• MIM:615349
• ORDO:75496
• SNOMEDCT_US_2023_03_01:720861000
• UMLS_CUI:C1869122

Ontology

Human Disease   ( DOID:0050802 )