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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: 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: OMIM:603546
 xref: NCI:C125419;   ORDO:93360
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:603546
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 2
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Wounds and Injuries 866
      Joint Dislocations 14
        spondyloepimetaphyseal dysplasia with joint laxity 7
          spondyloepimetaphyseal dysplasia with joint laxity type 2 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        connective tissue disease 4386
          bone disease 3068
            bone development disease 1392
              osteochondrodysplasia 454
                spondyloepimetaphyseal dysplasia 76
                  spondyloepimetaphyseal dysplasia with joint laxity 7
                    spondyloepimetaphyseal dysplasia with joint laxity type 2 1
paths to the root