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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 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondylometaphyseal Dysplasia, Sedaghatian Type 1
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
                Spondylometaphyseal Dysplasia, Sedaghatian Type 1
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.