Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R186 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506, telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217 |
Green in Pulmonary arterial hypertensionR-numbers: R188 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Heritable pulmonary arterial hypertension, HPAH |