Permanent Neonatal Diabetes Mellitus
Disease ID: disease_node_17245
Connections displayed (default: 10).
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| Dbxref | GARD:10457, MIM:606176 |
|---|---|
| Subclassof | DOID_0050736, DOID_11717, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PDMI, PNDM, permanent diabetes mellitus of infancy |
| Doid Label | permanent neonatal diabetes mellitus |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_17245 |
| Doid Id | DOID_0060639 |
| Label | Permanent Neonatal Diabetes Mellitus |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neonatal Diabetes(ID:disease_node_17244) (Disease)