ACVRL1
Deellabo: | PGD DNA |
Gen (Gen Code): | ACVRL1 |
Aliases Gen: | ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I |
Gen ID (NCBI): | 94 |
OMIM Gen ID: | 601284 |
Chromosomale locatie: | 12q11-q14 |
Genetische aandoening / Analyse: | Osler-Rendu-Weber syndroom 2 (ORW2) |
OMIM aandoening ID: | 600376 |
Overerving: | AD |
Aliases aandoening: | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED |