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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
Synonyms:exact_synonym: SED Congenita;   SEDC;   SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT;   Sed, Congenital Type;   Spondyloepiphyseal dysplasia, congenital type
 primary_id: MESH:C535788
 alt_id: OMIM:183900;   RDO:0001095
 xref: GARD:4987
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:28492532 NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type
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
PMID:2339128, PMID:2543071, PMID:7752132, PMID:7977371, PMID:8325895, PMID:8423604, PMID:8702139, PMID:9101290, PMID:10678662, PMID:11746045, PMID:24033266, PMID:25592122, PMID:25741868, PMID:25741869, PMID:26037341, PMID:26380986, PMID:28492532, PMID:32860008, PMID:12968670, PMID:21204228, PMID:23079993 RGD:729929, RGD:8657353, RGD:11667105 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISS OMIM:183900 MouseDO NCBI chr 2:18,354,542...18,419,077
Ensembl chr 2:18,354,542...18,419,071
JBrowse link
G Trappc2 trafficking protein particle complex 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar NCBI chr  X:29,550,871...29,562,135
Ensembl chr  X:29,550,873...29,556,610
JBrowse link

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
            spondyloepiphyseal dysplasia congenita 4
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
                  spondyloepiphyseal dysplasia congenita 4
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.