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- Bc40dcc3fa15c3a80419958cb8111c8bd NCIT_P378 "NCI" @default.
- Bc40dcc3fa15c3a80419958cb8111c8bd type Axiom @default.
- Bc40dcc3fa15c3a80419958cb8111c8bd annotatedProperty IAO_0000115 @default.
- Bc40dcc3fa15c3a80419958cb8111c8bd annotatedSource NCIT_C129733 @default.
- Bc40dcc3fa15c3a80419958cb8111c8bd annotatedTarget "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." @default.