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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



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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
ISS
ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
OMIM:610199
OMIM
ClinVar
CTD
MouseDO
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 21128
    physical disorder 4950
      congenital hypothyroidism 232
        neonatal diabetes mellitus with congenital hypothyroidism 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            carbohydrate metabolic disorder 3265
              glucose metabolism disease 2069
                diabetes mellitus 1658
                  neonatal diabetes 11
                    neonatal diabetes mellitus with congenital hypothyroidism 1
paths to the root