ONTOLOGY REPORT - ANNOTATIONS


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: Fetal hypokinesia sequence due to restrictive dermopathy;   Hyperkeratosis-contracture syndrome;   Restrictive dermopathy;   lethal tight skin contracture syndrome;   tight skin contracture syndrome
 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
RGD:8554872
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
RGD:8554872
RGD:10043097

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Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      skin disease 2253
        Skin Abnormalities 344
          lethal restrictive dermopathy 4
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                Contracture 41
                  lethal restrictive dermopathy 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.