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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS
OMIM
CTD
ClinVar
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 More... NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Pathological Conditions, Signs and Symptoms 11282
      Pathologic Processes 7739
        Growth Disorders 875
          Fetal Growth Retardation 188
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            carbohydrate metabolic disorder 2562
              glucose metabolism disease 1874
                diabetes 1479
                  diabetes mellitus 1475
                    neonatal diabetes 11
                      permanent neonatal diabetes mellitus 8
                        Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
paths to the root