Search Ontology:
Human Disease
autosomal dominant pseudohypoaldosteronism type 1
- Term ID
- DOID:0060855
- Synonyms
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- autosomal dominant PHA 1
- PHA1A
- 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. https://www.ncbi.nlm.nih.gov/pubmed/9662404
- References
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- GARD:9145
- MESH:D011546
- MIM:177735
- ORDO:756
- UMLS_CUI:C1449843
- Ontology
- Human Disease ( DOID:0060855 )
- is a type of
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Genes Involved
Zebrafish Models