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ONTOLOGY REPORT - ANNOTATIONS


Term:INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
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Accession:DOID:9004839 term browser browse the term
Definition:An autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. (OMIM)
Synonyms:exact_synonym: IDDGIP
 primary_id: OMIM:617450;   RDO:9001709
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INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D JBrowse link 9 35,856,277 35,914,096 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12573
    syndrome 5510
      Congenital Pain Insensitivity 10
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
Path 2
Term Annotations click to browse term
  disease 12573
    disease of anatomical entity 12134
      nervous system disease 9858
        central nervous system disease 8247
          brain disease 7585
            disease of mental health 5465
              developmental disorder of mental health 2863
                specific developmental disorder 2045
                  intellectual disability 1917
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.