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- B7cbc2f06563028ce23a08f77707ce275 hasDbXref "Orphanet:99014" @default.
- B7cbc2f06563028ce23a08f77707ce275 type Axiom @default.
- B7cbc2f06563028ce23a08f77707ce275 annotatedProperty IAO_0000115 @default.
- B7cbc2f06563028ce23a08f77707ce275 annotatedSource MONDO_0010699 @default.
- B7cbc2f06563028ce23a08f77707ce275 annotatedTarget "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." @default.