Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   OMIM:PS271640;   ORDO:93359
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar NCBI chr 9:17,823,399...17,827,032
Ensembl chr 9:17,823,400...17,827,032
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 or without fractures
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
OMIM
ClinVar
PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29620724 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
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 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
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 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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: Spondyloepimetaphyseal dysplasia with joint laxity, type 2
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinVar Annotator: match by OMIM:603546
OMIM
ClinVar
PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 PMID:25741868 PMID:32860008 NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
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: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 OMIM
ClinVar
PMID:26669664 PMID:30284759 NCBI chr 4:116,314,695...116,786,466
Ensembl chr 4:116,314,695...116,786,424
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Wounds and Injuries 861
      Joint Dislocations 14
        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 16929
    disease of anatomical entity 16296
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3041
            bone development disease 1371
              osteochondrodysplasia 449
                spondyloepimetaphyseal dysplasia 75
                  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