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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, Strudwick type
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Accession:DOID:0080028 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)
Synonyms:exact_synonym: SED Strudwick;   SEMDC;   SEMDSTWK;   SMD;   Semd, Strudwick type;   Smed, Strudwick Type;   Smed, Type I;   Strudwick syndrome;   dappled metaphysis syndrome;   spondylometaepiphyseal dysplasia congenita, Strudwick type;   spondylometaphyseal dysplasia;   spondylometaphyseal dysplasia (Smd)
 primary_id: MESH:C537501
 alt_id: OMIM:184250
 xref: GARD:134;   ORDO:93346


show annotations for term's descendants           Sort by:
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      spondyloepimetaphyseal dysplasia, Strudwick type 3
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                spondyloepimetaphyseal dysplasia 88
                  spondyloepimetaphyseal dysplasia, Strudwick type 3
paths to the root