| 单词 | hereditary haemorrhagic telangiectasia |
| 释义 | hereditary haemorrhagic telangiectasiahereditary haemorrhagic telangiectasiaA rare autosomal dominant genetic disorder caused by mutations of the gene for endoglin, on chromosome 9, part of the receptor complex for transforming growth factor. The result is a disorder of the smallest blood vessels (capillaries) which become widened (dilated) and have a tendency to bleed. It presents with typical featuring characteristic lesions on the lips, face, and mouth and can also extend to the gastrointestinal tract causing anaemia and to the lungs causing HAEMOPTYSIS. |
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