Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000171252 Individual ID 00226138 Associated disease PHA1B Phenotype details Hyponatremia (HP:0002902), hypokalemia (HP:0002153), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Hyponatremia (HP:0002902), hypokalemia (HP:0002153), renal salt wasting (HP:0000127) Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-02-27 15:33:10 +01:00 (CET) Date last edited 2019-02-28 08:33:12 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.