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ONTOLOGY REPORT - ANNOTATIONS


Term:permanent neonatal diabetes mellitus
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Accession:DOID:0060639 term browser browse the term
Definition:A neonatal diabetes mellitus that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)
Synonyms:exact_synonym: PDMI;   PNDM;   permanent diabetes mellitus, of infancy;   permanent neonatal diabetes mellitus (PNDM)
 narrow_synonym: DEND;   PDMI DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES;   developmental delay, epilepsy, and neonatal diabetes
 primary_id: MESH:C563425
 alt_id: OMIM:606176;   RDO:0012685
 xref: GARD:10457
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permanent neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:7240710
RGD:8554872
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:7240710
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
RGD:7240710
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 JBrowse link 1 102,103,093 102,107,134 RGD:7240710
RGD:8554872
RGD:12743642
RGD:11067932
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 12 9,496,044 9,501,211 RGD:11554173
RGD:8554872
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:8554872
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:7240710
RGD:8554872
RGD:11554173
Permanent Neonatal Diabetes Mellitus, with Neurologic Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      endocrine system disease 4798
        diabetes mellitus 1343
          neonatal diabetes mellitus 10
            permanent neonatal diabetes mellitus 7
              Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
              Permanent Neonatal Diabetes Mellitus, with Neurologic Features 2
Path 2
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2700
          carbohydrate metabolism disease 1761
            glucose metabolism disease 1761
              diabetes mellitus 1343
                neonatal diabetes mellitus 10
                  permanent neonatal diabetes mellitus 7
                    Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
                    Permanent Neonatal Diabetes Mellitus, with Neurologic Features 2
paths to the root

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