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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:anorexia nervosa
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Accession:DOID:8689 term browser browse the term
Definition:An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. (DO)
Synonyms:exact_synonym: AN;   ANON;   ANON1;   Anorexia Nervosas
 related_synonym: ANOREXIA NERVOSA, SUSCEPTIBILITY TO;   ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1
 primary_id: MESH:D000856
 alt_id: OMIM:606788
 xref: EFO:0004215;   ICD10CM:F50.0;   ICD9CM:307.1;   MONDO:0005351;   NCI:C34387
For additional species annotation, visit the Alliance of Genome Resources.


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anorexia nervosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A-kinase anchoring protein 6 susceptibility ISO DNA:SNP: :rs2383378(human) RGD PMID:21079607 RGD:14349024 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISS MouseDO NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:decreased activity:blood, mononuclear leukocyte RGD PMID:10356629 RGD:7174723 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              eating disorder 17
                anorexia nervosa 5
                  ANOREXIA NERVOSA 2 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  eating disorder 17
                    anorexia nervosa 5
                      ANOREXIA NERVOSA 2 0
paths to the root