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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 PMID:11735031 PMID:11739418 PMID:11889216 PMID:12070265 PMID:12362035 PMID:12424438 PMID:15118270 PMID:15931687 PMID:16227037 PMID:17028440 PMID:17047016 PMID:17182655 PMID:17726696 PMID:21262861 PMID:21912078 PMID:22020182 PMID:22791839 PMID:23636926 PMID:25659810 PMID:25741868 PMID:26467025 PMID:27708272 NCBI chr  X:124,045,727...124,052,708
Ensembl chr  X:124,045,737...124,052,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        SHOX-related short stature 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              SHOX-related short stature 1
paths to the root