ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9001764
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Cohen-Gibson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eed embryonic ectoderm development JBrowse link 1 154,189,252 154,216,340 RGD:8554872
RGD:7240710

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Path 1
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  disease 14823
    syndrome 4218
      Cohen-Gibson Syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    Cohen-Gibson Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.