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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:Spondylometaphyseal Dysplasia, Sedaghatian Type
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Accession:DOID:9003961 term browser browse the term
Synonyms:exact_synonym: Lethal Metaphyseal Dysplasia;   Metaphyseal Chondrodysplasia, Congenital Lethal;   SMDS;   Sedaghatian Chondrodysplasia
 primary_id: MESH:C535798;   RDO:0001106
 alt_id: OMIM:250220
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaphyseal Dysplasia, Sedaghatian Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia Sedaghatian type ClinVar
OMIM
PMID:22529034 PMID:24706940 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      bone development disease 1307
        osteochondrodysplasia 441
          Spondylometaphyseal Dysplasia, Sedaghatian Type 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                Spondylometaphyseal Dysplasia, Sedaghatian Type 1
paths to the root