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PanelMode of inheritanceDetails
5 panels
R-numbers: R90
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
187300 Telangiectasia, hereditary hemorrhagic, type 1
R-numbers: R336
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1 187300
R-numbers: R186
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, 187300, Epistaxis (HP:0000421), Nasal mucosa telangiectasia (HP:0000434), Lip telangiectasia (HP:0000214), Tongue telangiectasia (HP:0000227), Palate telangiectasia (HP:0002707), Finger pad telangiectasia (pulp not nail side), Gastrointestinal telangiectasia (HP:0002604), Arteriovenous malformation (HP:0100026), Cerebral arteriovenous malformation (HP:0002408), Pulmonary arteriovenous malformation (HP:0006548), Hepatic arteriovenous malformation (HP:0006574, ), Spinal arteriovenous malformation (HP:0002390)
R-numbers: R188
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, 187300, Heritable pulmonary arterial hypertension, HPAH, Hereditary hemorrhagic telangiectasia, HHT
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary haemorrhagic telengiectasia