Global Variome shared LOVD

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

Phenotype #0000068278 Individual ID 00088875 Associated disease PXE Phenotype details skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; nephrolithiasis (HP:0000787) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anne Legrand Database submission license No license selected Created by Anne Legrand Date created 2016-10-24 15:49:15 +02:00 (CEST) Date last edited N/A

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