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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: SEMDC;   SEMDSTWK;   SMD;   Sed Strudwick;   Semd, Strudwick type;   Smed, Strudwick Type;   Smed, Type I;   Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type;   Strudwick syndrome;   dappled metaphysis syndrome;   spondylometaphyseal dysplasia;   spondylometaphyseal dysplasia (Smd)
 primary_id: MESH:C537501
 alt_id: OMIM:184250;   RDO:0003351
For additional species annotation, visit the Alliance of Genome Resources.



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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: Spondylometaphyseal dysplasia
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Strudwick type
ClinVar Annotator: match by OMIM:184250
OMIM
ClinVar
PMID:7550321 PMID:7977371 PMID:8486375 PMID:8702139 PMID:8723096 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type
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 17208
    syndrome 8125
      spondyloepimetaphyseal dysplasia, Strudwick type 3
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      musculoskeletal system disease 6417
        connective tissue disease 4421
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                spondyloepimetaphyseal dysplasia 77
                  spondyloepimetaphyseal dysplasia, Strudwick type 3
paths to the root