permanent neonatal diabetes mellitus (Q17143640)
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neonatal diabetes mellitus 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
- PDMI
- PNDM
- permanent diabetes mellitus of infancy
- Monogenic diabetes of infancy
- DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
- DIABETES MELLITUS, PERMANENT NEONATAL
- Diabetes Mellitus, Permanent Neonatal, With Neurologic Features
- Developmental Delay, Epilepsy, and Neonatal Diabetes
- Diabetes Mellitus, Permanent, of Infancy
Language | Label | Description | Also known as |
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English | permanent neonatal diabetes mellitus |
neonatal diabetes mellitus 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 |
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Statements
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C114902
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Identifiers
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Sitelinks
Wikipedia(1 entry)
- enwiki Permanent neonatal diabetes