FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term restrictive dermopathy ID (Ontology) DOID:0060762 (Human Disease)
Definition 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.
Also Known As "hyperkeratosis-contracture syndrome" ; "Infantile restrictive dermopathy" ; "lethal restrictive dermopathy" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  integumentary system disease
   |__skin disease
       |__restrictive dermopathy  6 rec.
           |__restrictive dermopathy 1 4 rec.
           |__restrictive dermopathy 2 2 rec.
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Synonyms
  • "hyperkeratosis-contracture syndrome" EXACT
    "Infantile restrictive dermopathy" EXACT
    "lethal restrictive dermopathy" EXACT
    "Lethal tight skin contracture syndrome" EXACT
    "tight skin contracture syndrome" EXACT
Secondary IDs
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GARD:1516
MESH:C536920
MIM:PS275210
ORDO:1662
SNOMEDCT_US_2023_03_01:400128006
UMLS_CUI:C0406585