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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:X-linked chronic idiopathic intestinal pseudo-obstruction
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Accession:DOID:0080681 term browser browse the term
Definition:An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: CIIP;   CIIP, X-LINKED;   CIIPX;   Congenital Idiopathic Intestinal Pseudoobstruction;   IPOX;   Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement;   Intestinal pseudoobstruction chronic idiopathic;   neuronal intestinal pseudoobstruction, chronic idiopathic, X-linked
 narrow_synonym: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CONGENITAL SHORT BOWEL SYNDROME, X-LINKED
 primary_id: MESH:C535532
 alt_id: OMIM:300048
 xref: GARD:3017
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked chronic idiopathic intestinal pseudo-obstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        intestinal pseudo-obstruction 23
          X-linked chronic idiopathic intestinal pseudo-obstruction 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      gastrointestinal system disease 6059
        Gastrointestinal Diseases 4144
          intestinal disease 2446
            intestinal obstruction 109
              ileus 28
                intestinal pseudo-obstruction 23
                  X-linked chronic idiopathic intestinal pseudo-obstruction 1
paths to the root