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General Information
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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" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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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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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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permanent neonatal diabetes mellitus | 2 | 6 | 1 | for disease ribbon | permanent neonatal diabetes mellitus | -- | 4 | -- | model of | permanent neonatal diabetes mellitus | 2 | 4 | -- |
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Relationships