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spondyloepimetaphyseal dysplasia with joint laxity type 2 - 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 2
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Accession:DOID:0112199 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: KIF22-RELATED CONDITION;   SEMD-MD;   SEMDJL2;   spondyloepimetaphyseal dysplasia with joint laxicity, Hall type;   spondyloepimetaphyseal dysplasia with joint laxity, Hall type;   spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type;   spondyloepimetaphyseal dysplasia with multiple dislocations;   spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type;   spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type
 primary_id: MESH:C535784
 alt_id: MIM:603546
 xref: NCI:C125419;   ORDO:93360

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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
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 2 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 2 1
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