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spondyloepimetaphyseal dysplasia with joint laxity - Ontology Report - Rat Genome Database

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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:spondyloepimetaphyseal dysplasia with joint laxity
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Accession:DOID:0112197 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. (DO)
Synonyms:exact_synonym: PRIMARY BONE DYSPLASIA WITH MULTIPLE JOINT DISLOCATIONS;   SEMDJL
 primary_id: MESH:C562968
 xref: GARD:4982;   MIM:PS271640;   ORDO:93359

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spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 PMID:29931299 PMID:32381727 More... NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:28492532 PMID:30284759 NCBI chr 4:118,652,279...119,107,725
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Wounds and Injuries 999
      Joint Dislocations 24
        spondyloepimetaphyseal dysplasia with joint laxity 7
          spondyloepimetaphyseal dysplasia with joint laxity type 1 3
          spondyloepimetaphyseal dysplasia with joint laxity type 2 1
          spondyloepimetaphyseal dysplasia with joint laxity type 3 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7774
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                spondyloepimetaphyseal dysplasia 90
                  spondyloepimetaphyseal dysplasia with joint laxity 7
                    spondyloepimetaphyseal dysplasia with joint laxity type 1 3
                    spondyloepimetaphyseal dysplasia with joint laxity type 2 1
                    spondyloepimetaphyseal dysplasia with joint laxity type 3 1
paths to the root