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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:neonatal diabetes mellitus with congenital hypothyroidism
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Accession:DOID:0060638 term browser browse the term
Definition:A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that 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
 xref: ORDO:79118
For additional species annotation, visit the Alliance of Genome Resources.



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neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610199
ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism
OMIM
ClinVar
PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More... NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital hypothyroidism 53
        neonatal diabetes mellitus with congenital hypothyroidism 1
Path 2
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        acquired metabolic disease 2898
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              diabetes mellitus 1407
                neonatal diabetes 10
                  neonatal diabetes mellitus with congenital hypothyroidism 1
paths to the root