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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 14
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Accession:DOID:0111111 term browser browse the term
Definition:A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. (DO)
Synonyms:exact_synonym: MODY14;   maturity-onset diabetes of the young-14
 primary_id: OMIM:616511;   RDO:9001645


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maturity-onset diabetes of the young type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26073777 PMID:28492532 NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692 		JBrowse link
G Asb14 ankyrin repeat and SOCS box-containing 14 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,095,567...2,123,259
Ensembl chr16:2,095,644...2,115,135 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        diabetes mellitus 1660
          maturity-onset diabetes of the young 104
            maturity-onset diabetes of the young type 14 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              glucose metabolism disease 2071
                diabetes mellitus 1660
                  maturity-onset diabetes of the young 104
                    maturity-onset diabetes of the young type 14 2
paths to the root