Phenotype #0000167492

Individual ID 00049971
Associated disease JPHT
Phenotype details see paper; telangiectases, epistaxis, AVMs lung and gastrointestinal tract, colonic polyps discoverd during endoscopy, ...
Diagnosis/Initial hemorrhagic telangiectasia
Inheritance Unknown
Diagnosis/Definite JPHT
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-02-01 16:25:55 +01:00 (CET)
Date last edited 2019-02-01 16:26:24 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.