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- B833d7945dca7d9fd1d2915d38857888f NCIT_P378 "NCI" @default.
- B833d7945dca7d9fd1d2915d38857888f type Axiom @default.
- B833d7945dca7d9fd1d2915d38857888f annotatedProperty IAO_0000115 @default.
- B833d7945dca7d9fd1d2915d38857888f annotatedSource NCIT_C130992 @default.
- B833d7945dca7d9fd1d2915d38857888f annotatedTarget "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." @default.