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RGD uses the Human Disease Ontology (DO, 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:Idiopathic Short Stature, X-Linked
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Accession:DOID:9008230 term browser browse the term
Synonyms:exact_synonym: ISS
 primary_id: MESH:C564479
 alt_id: OMIM:300582;   RDO:0013425
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Idiopathic Short Stature, X-Linked 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
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 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Growth Disorders 321
          Idiopathic Short Stature, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              Idiopathic Short Stature, X-Linked 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.