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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 4
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Accession:DOID:9004407 term browser browse the term
Synonyms:exact_synonym: PNDM4
 primary_id: OMIM:618858


show annotations for term's descendants           Sort by:
Permanent Neonatal Diabetes Mellitus 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 ClinVar PMID:3511099 PMID:3537011 PMID:6339950 PMID:11921414 PMID:17047922 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 OMIM
ClinVar		 PMID:3511099 PMID:3537011 PMID:6339950 PMID:11921414 PMID:17047922 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 ClinVar PMID:25741868 PMID:27635400 PMID:33953728 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          permanent neonatal diabetes mellitus 8
            Permanent Neonatal Diabetes Mellitus 4 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                diabetes mellitus 1662
                  neonatal diabetes 11
                    permanent neonatal diabetes mellitus 8
                      Permanent Neonatal Diabetes Mellitus 4 3
paths to the root