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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, Missouri type
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Accession:DOID:0080030 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (DO)
Synonyms:exact_synonym: SEMD, Missouri type
 narrow_synonym: MANDP1;   METAPHYSEAL ANADYSPLASIA 1
 primary_id: MESH:C566574
 alt_id: OMIM:602111
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by OMIM:602111
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type
OMIM
ClinVar
PMID:8412645, PMID:16167086, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          spondyloepimetaphyseal dysplasia 75
            spondyloepimetaphyseal dysplasia, Missouri type 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                spondyloepimetaphyseal dysplasia 75
                  spondyloepimetaphyseal dysplasia, Missouri type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.