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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 SHOX or SHOXY 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
For additional species annotation, visit the Alliance of Genome Resources.



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SHOX-related short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC691272 similar to reproductive homeobox on X chromosome, 11 ISO ClinVar Annotator: match by term: Short stature, idiopathic, X-linked OMIM
ClinVar
PMID:9140395 PMID:9590292 PMID:10634394 PMID:10749976 PMID:11403039 More... NCBI chr  X:116,688,163...116,695,111
Ensembl chr  X:116,688,163...116,695,058
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      bone development disease 1424
        SHOX-related short stature 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        connective tissue disease 4452
          bone disease 3126
            bone development disease 1424
              SHOX-related short stature 1
paths to the root