OBO ID: DOID:0060854 |
Term Name: | autosomal recessive pseudohypoaldosteronism type 1 | Search Ontology: | |
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Synonyms: |
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Definition: | A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (3) | ||
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Ontology: | Human Disease ( DOID:0060854 ) |
OTHER autosomal recessive pseudohypoaldosteronism type 1 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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SCNN1A | Pseudohypoaldosteronism, type IB1, autosomal recessive |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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