HEREDIT HEMORR TELANGIEC
[An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA. ( MSH )]
UMLS (ICD9CM) C0039445- Disease or Syndrome
Relation/PAR: telangiectasia
Vascular Hemostatic Disorders
Vascular Hemostatic Disorders
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