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Term:lethal restrictive dermopathy
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Accession:DOID:0060762 term browser browse the term
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 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. (DO)
Synonyms:exact_synonym: Hyperkeratosis-contracture syndrome;   fetal hypokinesia sequence due to restrictive dermopathy;   lethal tight skin contracture syndrome;   restrictive dermopathy;   tight skin contracture syndrome
 broad_synonym: ZMPSTE24-related disorder
 primary_id: MESH:C536920
 alt_id: OMIM:275210;   RDO:0002646
 xref: ORDO:1662
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lethal restrictive dermopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fst follistatin JBrowse link 2 46,537,589 46,544,813 RGD:13592920
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 RGD:13592920
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      skin disease 2652
        Skin Abnormalities 613
          lethal restrictive dermopathy 4
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              muscular disease 1129
                Contracture 89
                  lethal restrictive dermopathy 4
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