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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal dominant pseudohypoaldosteronism type 1
Summary
- Synonym
-
- PHA1A
- autosomal dominant PHA 1
- Definition
- A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
- Super Class
- autosomal dominant disease pseudohypoaldosteronism
External Links
- Disease Ontology
- DOID:0060855
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22897 | Macrophage mannose receptor 1 |
