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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:spondyloepiphyseal dysplasia congenita
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Accession:DOID:14789 term browser browse the term
Definition:A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)
Synonyms:exact_synonym: SED congenita;   SED, congenital type;   SEDC;   SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT;   Spondyloepiphyseal dysplasia, congenital type
 primary_id: MESH:C535788
 alt_id: OMIM:183900
 xref: GARD:4987
For additional species annotation, visit the Alliance of Genome Resources.



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spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:25741868 NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:28492532 NCBI chr20:28,114,387...28,152,046
Ensembl chr20:28,114,404...28,121,807
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita
DNA:missense mutation:cds:p.R1417C (mouse)
DNA:missense mutation:cds:p.P986L (human)
DNA:missense mutations:cds:p.G504S, p.G801S, p.G1176V (human)
OMIM
ClinVar
RGD
PMID:1905723 PMID:2339128 PMID:2543071 PMID:7695699 PMID:7752132 More... RGD:729929, RGD:8657353, RGD:11667105 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISS OMIM:183900 MouseDO NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      bone development disease 1424
        osteochondrodysplasia 479
          spondyloepiphyseal dysplasia 13
            spondyloepiphyseal dysplasia congenita 5
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      musculoskeletal system disease 6466
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              osteochondrodysplasia 479
                spondyloepiphyseal dysplasia 13
                  spondyloepiphyseal dysplasia congenita 5
paths to the root