Metadata | |
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ID | DOID:0060638 |
Name | neonatal diabetes mellitus with congenital hypothyroidism |
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. https://www.ncbi.nlm.nih.gov/pubmed/16715098 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
NDH syndrome [EXACT] |
Parent Relationships |
is_a autosomal recessive disease is_a neonatal diabetes is_a physical disorder |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |