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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: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. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO)
Synonyms:exact_synonym: fetal hypokinesia sequence due to restrictive dermopathy;   hyperkeratosis-contracture syndrome;   infantile restrictive dermopathy;   lethal restrictive dermopathy;   lethal tight skin contracture syndrome;   tight skin contracture syndrome
 primary_id: MESH:C536920
 xref: GARD:1516;   MIM:PS275210;   ORDO:1662


show annotations for term's descendants           Sort by:
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 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy		 ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129930252 ATAC-STARR-seq lymphoblastoid active region 835 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar NCBI chr 1:40,257,827...40,258,096 JBrowse link
G LOC129930253 ATAC-STARR-seq lymphoblastoid active region 836 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:3840649 PMID:16297189 PMID:20034068 PMID:20101687 PMID:20635340 More... NCBI chr 1:40,258,177...40,258,456 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP
EXP		 DNA:duplication:exon:c.591dupT (human)
ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... RGD:10043097 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
restrictive dermopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ClinVar Annotator: match by term: ZMPSTE24-related disorder
ClinVar Annotator: match by term: Restrictive dermopathy 1		 OMIM
ClinVar		 PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:16297189 More... NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
restrictive dermopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2		 ClinVar
OMIM		 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 PMID:10739751 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2		 ClinVar PMID:18585512 PMID:19638735 PMID:24033266 PMID:25741868 PMID:26084686 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    sensory system disease 21102
      skin disease 10983
        Skin Abnormalities 1822
          restrictive dermopathy 8
            restrictive dermopathy 1 1
            restrictive dermopathy 2 3
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      musculoskeletal system disease 21004
        connective tissue disease 16001
          bone disease 12638
            bone inflammation disease 6250
              arthropathy 6224
                Contracture 377
                  restrictive dermopathy 8
                    restrictive dermopathy 1 1
                    restrictive dermopathy 2 3
paths to the root