Disease #01531

Official abbreviation PHA-1A
Name pseudohypoaldosteronism type 1 autosomal dominant (PHA-1A)
OMIM ID 177735
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene NR3C2
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00100243 - NOT PUBLISHED 2-generatin family, 4 affecteds (mother, 2 siblings) F - (Portugal) - - 0 - ITT; LT4 (2.5mcg/Kg/d) PHA-1A short left femur;absent GH response; low estradiol GNAS GNAS 1 4 Arrate Pereda
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