| Metadata | |
|---|---|
| ID | DOID:0060639 |
| Name | permanent neonatal diabetes mellitus |
| Definition | A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. https://www.ncbi.nlm.nih.gov/pubmed/17213273 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
PDMI [EXACT] permanent diabetes mellitus of infancy [EXACT] PNDM [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a neonatal diabetes |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |