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Items: 3

1.

EGFR-related lung cancer

MedGen UID:
472093
Concept ID:
CN130014
Disease or Syndrome
2.

Neoplasm of the skin

A tumor (abnormal growth of tissue) of the skin. [from HPO]

MedGen UID:
428780
Concept ID:
CN007095
Finding
3.

Prostaglandin-endoperoxide synthase deficiency

Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996). [from OMIM]

MedGen UID:
414043
Concept ID:
C2751535
Disease or Syndrome
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