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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
Definition:This is a multiple congenital anomaly syndrome with delayed psychomotor development with intellectual disability, short stature, obesity, variable dysmorphic facial features (round face, proptosis, hypertelorism, thick eyebrows and hair, long eyelashes, short nose and downturned corners of the mouth), heart defects, increased chance of chronic lung disease, skeletal defects such as brachydactyly, gastroesophageal reflux.
Synonyms:exact_synonym: CHOPS;   Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome;   cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia
 broad_synonym: AFF4-related condition
 xref: EFO:0009031;   MIM:616368;   MONDO:0014609


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CHOPS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 More... NCBI chr10:37,998,319...38,080,580
Ensembl chr10:37,498,825...37,579,751 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      CHOPS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        thoracic disease 4049
          heart disease 3476
            congenital heart disease 1406
              heart septal defect 223
                CHOPS Syndrome 1
paths to the root