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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:Abdominal Pain
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Accession:DOID:9005734 term browser browse the term
Definition:Sensation of discomfort, distress, or agony in the abdominal region.
Synonyms:exact_synonym: Abdominal Pains;   Colicky Pain;   Colicky Pains
 primary_id: MESH:D015746;   RDO:0004684
 xref: EFO:0003766


show annotations for term's descendants           Sort by:
Abdominal Pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Abdominal pain ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Abdominal pain ClinVar NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 IDA RGD PMID:24291101 RGD:10043376 NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570 		JBrowse link
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM
ClinVar		 PMID:4831644 PMID:25741868 PMID:26104880 PMID:28492532 PMID:31201888 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Digestive Signs and Symptoms 200
          Abdominal Pain 4
            Abdomen, Acute 0
            IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          Pain 349
            Abdominal Pain 4
              Abdomen, Acute 0
              IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 1
paths to the root