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- Bcd0db626dfa2c9eb8cbaeca9d6c87459 NCIT_P378 "NICHD" @default.
- Bcd0db626dfa2c9eb8cbaeca9d6c87459 type Axiom @default.
- Bcd0db626dfa2c9eb8cbaeca9d6c87459 annotatedProperty NCIT_P325 @default.
- Bcd0db626dfa2c9eb8cbaeca9d6c87459 annotatedSource NCIT_C130992 @default.
- Bcd0db626dfa2c9eb8cbaeca9d6c87459 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.