Global Variome shared LOVD

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

Phenotype #0000311183 Individual ID 00419914 Associated disease neuropathy, optic Phenotype details Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Nephropathy (HP:0000112) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 64y (64 years) Age/Diagnosis - Age/Onset 09y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-25 14:15:40 +02:00 (CEST) Date last edited 2024-08-16 10:11:16 +02:00 (CEST)

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