Phenotype #0000078749

Individual ID 00100536
Associated disease PXE
Phenotype details skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; intermittent claudication (HP:0004417); no cardiac symptoms
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 63y (63 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-03-04 14:49:28 +01:00 (CET)
Date last edited N/A

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