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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: JLSM
 primary_id: OMIM:617662;   RDO:9005171
For additional species annotation, visit the Alliance of Genome Resources.


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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: JOINT LAXITY, SHORT STATURE, AND MYOPIA ClinVar
OMIM
PMID:28475863 NCBI chr 3:143,003,706...143,015,906
Ensembl chr 3:143,003,796...143,015,904
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Multiple Abnormalities 1762
            JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
paths to the root