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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
ClinVar
OMIM
PMID:23907125 PMID:24262437 PMID:25741868 PMID:28343630 PMID:28852847 PMID:29752822 PMID:30216591 PMID:30388424 NCBI chr10:72,909,550...72,945,884
Ensembl chr10:72,909,550...72,945,884
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Congenital Pain Insensitivity 11
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
paths to the root