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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:maturity-onset diabetes of the young type 9
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Accession:DOID:0111107 term browser browse the term
Definition:A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. (DO)
Synonyms:exact_synonym: MODY9
 primary_id: MESH:C567393
 alt_id: MIM:612225


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maturity-onset diabetes of the young type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax4 paired box 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:15509590 PMID:17426099 PMID:17576681 PMID:25741868 More... NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      endocrine system disease 7029
        diabetes mellitus 1663
          maturity-onset diabetes of the young 106
            maturity-onset diabetes of the young type 9 1
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              glucose metabolism disease 2156
                diabetes mellitus 1663
                  maturity-onset diabetes of the young 106
                    maturity-onset diabetes of the young type 9 1
paths to the root