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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 the COL2A1 gene 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 Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type ClinVar PMID:28492532 NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:30368667 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO
ISS		 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)
CTD Direct Evidence: marker/mechanism
OMIM:183900
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type		 OMIM
CTD
MouseDO
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...129,127,560
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 21128
    Developmental Disease 18448
      bone development disease 2303
        osteochondrodysplasia 860
          spondyloepiphyseal dysplasia 17
            spondyloepiphyseal dysplasia congenita 6
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                spondyloepiphyseal dysplasia 17
                  spondyloepiphyseal dysplasia congenita 6
paths to the root