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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: fetal hypokinesia sequence due to restrictive dermopathy;   hyperkeratosis-contracture syndrome;   lethal tight skin contracture syndrome;   restrictive dermopathy;   tight skin contracture syndrome
 narrow_synonym: RSDM1;   RSDM2;   lethal restrictive dermopathy 1;   lethal restrictive dermopathy 2;   restrictive dermopathy 1;   restrictive dermopathy 2
 broad_synonym: ZMPSTE24-related disorder
 primary_id: MESH:C536920
 alt_id: OMIM:275210;   OMIM:619793
 xref: OMIM:PS275210;   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 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar Annotator: match by term: Restrictive dermopathy 2 OMIM
ClinVar
PMID:10612827 PMID:10655060 PMID:11503164 PMID:11799477 PMID:12629077 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 1, LETHAL
DNA:duplication:exon:c.591dupT (human)
OMIM
ClinVar
RGD
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:15843403 More... RGD:10043097 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        Skin Abnormalities 1055
          lethal restrictive dermopathy 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                Contracture 72
                  lethal restrictive dermopathy 4
paths to the root