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Repository for lectin-assisted multimodality data
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MIRAGE
autosomal recessive polycystic kidney disease
Summary
- Synonym
-
- AR-PKD
- Definition
- A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
- Super Class
- autosomal recessive disease polycystic kidney disease
External Links
- Disease Ontology
- DOID:0110861
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08F94 | Fibrocystin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9PZ36 | Fibrocystin | |
| O08852 | Polycystin-1 | |
| Q9EP53 | Hamartin | |
| Q9WUL7 | ADP-ribosylation factor-like protein 3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P0C152 | Meckelin | |
| P47196 | RAC-alpha serine/threonine-protein kinase | |
| P47820 | Angiotensin-converting enzyme |
