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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
permanent neonatal diabetes mellitus
Summary
- Synonym
-
- PDMI
- PNDM
- permanent diabetes mellitus of infancy
- 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.
- Super Class
- autosomal dominant disease autosomal recessive disease neonatal diabetes mellitus
External Links
- Disease Ontology
- DOID:0060639
- Mondo Disease Ontology
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q09428 | ATP-binding cassette sub-family C member 8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005487 | Prominent metopic ridge |
| HP:0001488 | Bilateral ptosis |
| HP:0010935 | Abnormality of the upper urinary tract |
| HP:0001824 | Weight loss |
| HP:0001252 | Hypotonia |
| HP:0002919 | Ketonuria |
| HP:0012594 | Moderate albuminuria |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001263 | Global developmental delay |
| HP:0003076 | Glycosuria |
