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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:CHOPS Syndrome
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Accession:DOID:9006799 term browser browse the term
Synonyms:exact_synonym: CHOPS;   cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia
 primary_id: OMIM:616368
For additional species annotation, visit the Alliance of Genome Resources.


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CHOPS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 AF4/FMR2 family, member 4 ISO ClinVar Annotator: match by term: Chops syndrome ClinVar
OMIM
PMID:25730767 PMID:25741868 PMID:28492532 NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      CHOPS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              cognitive disorder 1921
                CHOPS Syndrome 1
paths to the root