ONTOLOGY REPORT - ANNOTATIONS


Term:GABRIELE-DE VRIES SYNDROME
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Accession:DOID:9001966 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: GADEVS
 primary_id: OMIM:617557;   RDO:9001765
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GABRIELE-DE VRIES SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yy1 YY1 transcription factor JBrowse link 6 132,702,443 132,726,848 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      GABRIELE-DE VRIES SYNDROME 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              Neurodevelopmental Disorders 2756
                GABRIELE-DE VRIES 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.