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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:SHOX-related short stature
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Accession:DOID:0112120 term browser browse the term
Definition:A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. (DO)
Synonyms:exact_synonym: ISS;   idiopathic familial short stature
 narrow_synonym: X-linked idiopathic short stature
 primary_id: MESH:C564479
 alt_id: OMIM:300582
 xref: ORDO:314795


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13237
      bone development disease 2252
        SHOX-related short stature 1
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14909
      musculoskeletal system disease 7702
        connective tissue disease 5254
          bone disease 3815
            bone development disease 2252
              SHOX-related short stature 1
paths to the root