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- B0afce6ba50f65f0261b692a151784f13 NCIT_P378 "NICHD" @default.
- B0afce6ba50f65f0261b692a151784f13 type Axiom @default.
- B0afce6ba50f65f0261b692a151784f13 annotatedProperty NCIT_P325 @default.
- B0afce6ba50f65f0261b692a151784f13 annotatedSource NCIT_C2989 @default.
- B0afce6ba50f65f0261b692a151784f13 annotatedTarget "A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism." @default.