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Items: 3

1.

Aortic aneurysm, familial thoracic 4

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. [from MONDO]

MedGen UID:
338704
Concept ID:
C1851504
Disease or Syndrome
2.

Moyamoya disease 7

Moyamoya disease-7 (MYMY7) is a cerebrovascular disease that leads to strokes and neurologic deficits. The age at symptom onset is highly variable, ranging from childhood to adulthood. Brain imaging shows progressive occlusion and stenosis of the distal internal carotid arteries with collateral vessel formation. Intracranial aneurysms and involvement of the posterior circulation, including the basilar artery, may also be observed (Pinard et al., 2023). For a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). [from OMIM]

MedGen UID:
1851566
Concept ID:
C5882748
Disease or Syndrome
3.

Posterior cerebral artery stenosis

Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. [from HPO]

MedGen UID:
760201
Concept ID:
C1504569
Disease or Syndrome
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