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| Term | permanent neonatal diabetes mellitus | ID (Ontology) | DOID:0060639 (Human Disease) | |||||||||||||||||||
| 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. | |||||||||||||||||||||
| Also Known As | "PDMI" ; "permanent diabetes mellitus of infancy" ; "PNDM" | |||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease___ |__autosomal recessive disease__| diabetes mellitus | |__neonatal diabetes mellitus___| permanent neonatal diabetes mellitus 9 rec. |
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autosomal dominant disease autosomal recessive disease neonatal diabetes mellitus |
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External Crossreferences & Linkouts
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GARD:10457 MIM:606176 |
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