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- B70ab8774cd9f31da7e353fd2f2a6e070 hasDbXref "Orphanet:422" @default.
- B70ab8774cd9f31da7e353fd2f2a6e070 type Axiom @default.
- B70ab8774cd9f31da7e353fd2f2a6e070 annotatedProperty IAO_0000115 @default.
- B70ab8774cd9f31da7e353fd2f2a6e070 annotatedSource MONDO_0008347 @default.
- B70ab8774cd9f31da7e353fd2f2a6e070 annotatedTarget "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." @default.