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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: OMIM:617561
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:25741868 PMID:27193220 PMID:27868325 PMID:28119537 PMID:28166811 More... NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cohen-Gibson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Cohen-Gibson Syndrome 1
paths to the root