Global Variome shared LOVD

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

Phenotype #0000310063 Individual ID 00418768 Associated disease NPHP1 Phenotype details ophthalmic signs: refractory disturbances; modality: medical renal replacement therapy; cysts on ultrasound: yes; histopathology: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset polyuria and polydipsia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-06 11:53:06 +02:00 (CEST) Date last edited N/A

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