Phenotype #0000036684

Individual ID 00049906
Associated disease AOS
Phenotype details normal echocardiogram, portal hypertension; esophageal varices splenomegaly, congenital liver fibrosis, aplasia cutis congenita scalp (HP:0007385)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
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 2015-09-15 07:50:01 +02:00 (CEST)
Date last edited 2023-03-03 13:48:07 +01:00 (CET)

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