Global Variome shared LOVD

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

Phenotype #0000171258 Individual ID 00226145 Associated disease PHA1B Phenotype details Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942) Diagnosis/Initial Congenital adrenal hyperplasia (CAH) Inheritance Familial, autosomal recessive Diagnosis/Definite PHA1B Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Dehydration (HP:0001944), vomiting (HP:0002013), failure to thrive (HP:0001508) Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-02-28 11:58:09 +01:00 (CET) Date last edited 2019-03-01 10:09:52 +01:00 (CET)

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