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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 12 37,485,601 37,536,159 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12509
    syndrome 5467
      Congenital Pain Insensitivity 10
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
Path 2
Term Annotations click to browse term
  disease 12509
    disease of anatomical entity 12071
      nervous system disease 9796
        central nervous system disease 8209
          brain disease 7543
            disease of mental health 5424
              developmental disorder of mental health 2837
                specific developmental disorder 2021
                  intellectual disability 1895
                    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.