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ONTOLOGY REPORT - ANNOTATIONS


Term:neonatal diabetes mellitus with congenital hypothyroidism
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Accession:DOID:0060638 term browser browse the term
Definition:A neonatal diabetes mellitus characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life; it has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO)
Synonyms:exact_synonym: NDH;   NDH syndrome
 primary_id: MESH:C565705
 alt_id: OMIM:610199;   RDO:0014267
 xref: ORDO:79118
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neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glis3 GLIS family zinc finger 3 JBrowse link 1 246,380,816 246,564,385 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      hypothyroidism 140
        congenital hypothyroidism 46
          neonatal diabetes mellitus with congenital hypothyroidism 1
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
                  neonatal diabetes mellitus with congenital hypothyroidism 1
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