Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 term: Neonatal diabetes mellitus 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    physical disorder 4311
      congenital hypothyroidism 229
        neonatal diabetes mellitus with congenital hypothyroidism 1
Path 2
Term Annotations click to browse term
  disease 18213
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11803
        genetic disease 11314
          inherited metabolic disorder 4683
            carbohydrate metabolic disorder 2581
              glucose metabolism disease 1892
                diabetes mellitus 1494
                  neonatal diabetes 11
                    neonatal diabetes mellitus with congenital hypothyroidism 1
paths to the root