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- Ba08fffec5cb79005f6cdde23a7ac3c19 NCIT_P378 "NCI" @default.
- Ba08fffec5cb79005f6cdde23a7ac3c19 type Axiom @default.
- Ba08fffec5cb79005f6cdde23a7ac3c19 annotatedProperty IAO_0000115 @default.
- Ba08fffec5cb79005f6cdde23a7ac3c19 annotatedSource NCIT_C2989 @default.
- Ba08fffec5cb79005f6cdde23a7ac3c19 annotatedTarget "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." @default.