Phenotype #0000310065

Individual ID 00418767
Associated disease neuropathy, optic
Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Retinopathy (HP:0000488); temporal optic disc pallor (HP:0012511); Macular Drusen (HP:0030499); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 83y (83 years)
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset -
Protein -
Owner name Mohamed Selhane
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Mohamed Selhane
Date created 2022-10-06 12:00:33 +02:00 (CEST)
Date last edited 2024-09-09 17:28:18 +02:00 (CEST)

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