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About: lethal restrictive dermopathy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • lethal restrictive dermopathy
described by
id
  • DOID:0060762
database_cross_reference
  • MESH:C536920
  • OMIM:275210
  • ORDO:1662
  • SNOMEDCT_US_2021_09_01:400128006
  • UMLS_CUI:C0406585
has_exact_synonym
  • hyperkeratosis-contracture syndrome (en)
  • tight skin contracture syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
is topic of
is annotatedSource of
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