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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:Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
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Accession:DOID:9005970 term browser browse the term
Synonyms:exact_synonym: PACA;   pancreatic and cerebellar agenesis
 primary_id: MESH:C563796
 alt_id: OMIM:609069
For additional species annotation, visit the Alliance of Genome Resources.


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Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by OMIM:609069
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis
OMIM
ClinVar
CTD
PMID:10507728 PMID:15543146 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        inherited metabolic disorder 2606
          permanent neonatal diabetes mellitus 7
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
Path 2
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        acquired metabolic disease 2883
          carbohydrate metabolism disease 1792
            glucose metabolism disease 1792
              diabetes mellitus 1398
                neonatal diabetes 10
                  permanent neonatal diabetes mellitus 7
                    Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
paths to the root