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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive polycystic kidney disease
Summary
- Synonym
-
- Arpkd
- Pkhd1
- Polycystic Kidney Disease, Infantile, Type I
- Polycystic Kidney and Hepatic Disease 1
- 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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9420 | CYP7B1 | cytochrome P450 family 7 subfamily B member 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 22845 | DOLK | dolichol kinase | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
| 148738 | HJV | hemojuvelin BMP co-receptor | |
| 284541 | CYP4A22 | cytochrome P450 family 4 subfamily A member 22 | |
| 285203 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase |
Related Glycoprotein
