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- Bf9eb9a191f998097b7b10c232f8b8c69 hasDbXref "Orphanet:3151" @default.
- Bf9eb9a191f998097b7b10c232f8b8c69 type Axiom @default.
- Bf9eb9a191f998097b7b10c232f8b8c69 annotatedProperty IAO_0000115 @default.
- Bf9eb9a191f998097b7b10c232f8b8c69 annotatedSource MONDO_0017837 @default.
- Bf9eb9a191f998097b7b10c232f8b8c69 annotatedTarget "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." @default.