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- B07d74f4f02a30f9cd73fa6dc86331419 hasDbXref "NCIT:C123417" @default.
- B07d74f4f02a30f9cd73fa6dc86331419 type Axiom @default.
- B07d74f4f02a30f9cd73fa6dc86331419 annotatedProperty IAO_0000115 @default.
- B07d74f4f02a30f9cd73fa6dc86331419 annotatedSource MONDO_0009557 @default.
- B07d74f4f02a30f9cd73fa6dc86331419 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.