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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:Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
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Accession:DOID:9002328 term browser browse the term
Synonyms:exact_synonym: SMED Type II;   SMED, Short Limb-Abnormal Calcification Type;   SMED, Short Limb-Hand Type;   SMED-SL;   SMED-SL/AC;   Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
 primary_id: MESH:C564794;   RDO:0013638
 alt_id: OMIM:271665
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by OMIM:271665
ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia short limb-hand type
ClinVar Annotator: match by term: Smed short limb-abnormal calcification type
OMIM
ClinVar
PMID:8434618, PMID:8818447, PMID:19110212, PMID:20223752, PMID:25741868, PMID:28492532 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      endocrine system disease 4987
        Dwarfism 494
          Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              Dwarfism 494
                Spondylometaepiphyseal Dysplasia, Short Limb-Hand 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.