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- Bb8717f04183968c99a68b10b26068afb NCIT_P378 "NCI" @default.
- Bb8717f04183968c99a68b10b26068afb type Axiom @default.
- Bb8717f04183968c99a68b10b26068afb annotatedProperty IAO_0000115 @default.
- Bb8717f04183968c99a68b10b26068afb annotatedSource NCIT_C123417 @default.
- Bb8717f04183968c99a68b10b26068afb annotatedTarget "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." @default.