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- B62b2cbf850a5fe9cd43bf46e43b6538c hasDbXref "Orphanet:3177" @default.
- B62b2cbf850a5fe9cd43bf46e43b6538c type Axiom @default.
- B62b2cbf850a5fe9cd43bf46e43b6538c annotatedProperty IAO_0000115 @default.
- B62b2cbf850a5fe9cd43bf46e43b6538c annotatedSource MONDO_0010063 @default.
- B62b2cbf850a5fe9cd43bf46e43b6538c annotatedTarget "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." @default.