Metadata | |
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ID | DOID:0060855 |
Name | autosomal dominant pseudohypoaldosteronism type 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. https://www.ncbi.nlm.nih.gov/pubmed/9662404 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant PHA 1 [EXACT] PHA1A [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |