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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 10 72,909,550 72,945,884 RGD:8554872
RGD:11554173
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Congenital Pain Insensitivity 9
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
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