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DO Term : Ehlers-Danlos syndrome spondylodysplastic type 2 [DOID:0050802] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:720861000,
  • 615349,
  • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2,
  • Ehlers-Danlos syndrome progeroid type,
  • XGPT deficiency,
  • ORDO:75496,
  • xylosylprotein 4-beta-galactosyltransferase deficiency,
  • defective biosynthesis of proteodermatan sulfate,
  • UMLS_CUI:C1869122,
  • OMIM:615349
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents