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spondyloepimetaphyseal dysplasia with joint laxity type 3 - 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 type 3
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Accession:DOID:0112200 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. (DO)
Synonyms:exact_synonym: EXOC6B-RELATED CONDITION;   SEMDJL3
 primary_id: MIM:618395

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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 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 3 1
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