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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:JOINT LAXITY, SHORT STATURE, AND MYOPIA
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Accession:DOID:9001623 term browser browse the term
Synonyms:exact_synonym: GZF1-RELATED CONDITION;   JLSM
 primary_id: MIM:617662


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JOINT LAXITY, SHORT STATURE, AND MYOPIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia OMIM
ClinVar		 PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        Dwarfism 875
          JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7809
        connective tissue disease 5960
          bone disease 4413
            bone inflammation disease 1558
              arthropathy 1537
                Joint Instability 49
                  JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
paths to the root