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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


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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 term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS OMIM
ClinVar		 PMID:10507728 PMID:15543146 PMID:18591390 PMID:20065546 PMID:21749365 More... NCBI chr10:23,356,165...23,359,579 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Pathologic Processes 7433
        Growth Disorders 975
          Fetal Growth Retardation 193
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            carbohydrate metabolic disorder 2685
              glucose metabolism disease 1486
                diabetes mellitus 1342
                  neonatal diabetes 10
                    permanent neonatal diabetes mellitus 7
                      Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
paths to the root