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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, Stanescu Type
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Accession:DOID:9004463 term browser browse the term
Definition:Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes. Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. (OMIM)
Synonyms:exact_synonym: SED, STANESCU TYPE;   SEDSTN;   Stanescu type of spondyloepiphyseal dysplasia
 primary_id: OMIM:616583
 alt_id: RDO:9001575
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepiphyseal Dysplasia, Stanescu Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type ClinVar PMID:25741868 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: SED, STANESCU TYPE
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type
OMIM
ClinVar
PMID:7752132, PMID:8325895, PMID:9101290, PMID:25741868, PMID:26183434, PMID:26420734, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondyloepiphyseal Dysplasia, Stanescu Type 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Spondyloepiphyseal Dysplasia, Stanescu Type 2
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.