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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:Cohen-Gibson Syndrome
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Accession:DOID:9001209 term browser browse the term
Definition:An overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. (OMIM)
Synonyms:exact_synonym: COGIS
 primary_id: MIM:617561


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Cohen-Gibson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Cohen-Gibson syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27193220 PMID:27868325 More... NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Cohen-Gibson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    Cohen-Gibson Syndrome 1
paths to the root