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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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lethal restrictive dermopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fst follistatin ISS OMIM:275210 MouseDO NCBI chr 2:46,537,589...46,544,813
Ensembl chr 2:46,538,700...46,544,457
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy
ClinVar Annotator: match by OMIM:275210
OMIM
ClinVar
PMID:10612827 PMID:10655060 PMID:11503164 PMID:11799477 PMID:12629077 PMID:12702809 PMID:12714972 PMID:12768443 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15032975 PMID:15140538 PMID:15184648 PMID:15205219 PMID:15317753 PMID:15342704 PMID:15475483 PMID:15793835 PMID:15982412 PMID:15998779 PMID:16126733 PMID:16174718 PMID:16440304 PMID:16738054 PMID:17076270 PMID:17274801 PMID:17377071 PMID:17459035 PMID:17469202 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19172989 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21520333 PMID:21875900 PMID:22148005 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22611635 PMID:22685055 PMID:22893709 PMID:22918509 PMID:23141186 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:23969228 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24305605 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25214167 PMID:25567453 PMID:25637381 PMID:25649378 PMID:25741868 PMID:25786579 PMID:25946677 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30165862 PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy
ClinVar Annotator: match by OMIM:275210
DNA:duplication:exon:c.591dupT (human)
OMIM
ClinVar
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:15843403 PMID:15937076 PMID:16297189 PMID:17152860 PMID:18414213 PMID:18435794 PMID:19020898 PMID:19139791 PMID:19504603 PMID:19645629 PMID:19680556 PMID:20034068 PMID:20101687 PMID:20635340 PMID:21108632 PMID:21121943 PMID:21831885 PMID:22495976 PMID:22718200 PMID:22981120 PMID:24169522 PMID:25629449 PMID:25741868 PMID:28492532, PMID:16297189 RGD:10043097 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      skin disease 2775
        Skin Abnormalities 654
          lethal restrictive dermopathy 4
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                Contracture 101
                  lethal restrictive dermopathy 4
paths to the root