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DO Term : restrictive dermopathy [DOID:0060762] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
  • synonyms:
  • tight skin contracture syndrome,
  • OMIM:PS275210,
  • Infantile restrictive dermopathy,
  • Lethal tight skin contracture syndrome,
  • ORDO:1662,
  • SNOMEDCT_US_2023_03_01:400128006,
  • lethal restrictive dermopathy,
  • PS275210,
  • GARD:1516,
  • UMLS_CUI:C0406585,
  • hyperkeratosis-contracture syndrome,
  • MESH:C536920
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