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, Missouri type
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      bone development disease 1424
        osteochondrodysplasia 478
          spondyloepimetaphyseal dysplasia 77
            spondyloepimetaphyseal dysplasia, Missouri type 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      musculoskeletal system disease 6447
        connective tissue disease 4433
          bone disease 3116
            bone development disease 1424
              osteochondrodysplasia 478
                spondyloepimetaphyseal dysplasia 77
                  spondyloepimetaphyseal dysplasia, Missouri type 1
paths to the root