Global Variome shared LOVD

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

Phenotype #0000117813 Individual ID 00145073 Associated disease RP82 Phenotype details HP:0007663, reduced visual acuity; HP:0000505, visual impairment; HP:0007722, retinal pigment epithelial atrophy; HP:0007843, attenuation of retinal blood vessels; HP:0007737; bone spicule pigmentation of the retina; HP:0001133, constriction of peripheral visual field; HP:0000662, nyctalopia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 41y (41 years) Age/Diagnosis 41y Age/Onset 16y Phenotype/Onset - Protein - Owner name Hao Deng Database submission license No license selected Created by Hao Deng Date created 2017-12-23 09:43:21 +01:00 (CET) Date last edited 2017-12-27 16:04:59 +01:00 (CET)

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