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- B6bbfda56d3184ff08f04e51a3422fc3c hasDbXref "Orphanet:401777" @default.
- B6bbfda56d3184ff08f04e51a3422fc3c type Axiom @default.
- B6bbfda56d3184ff08f04e51a3422fc3c annotatedProperty IAO_0000115 @default.
- B6bbfda56d3184ff08f04e51a3422fc3c annotatedSource MONDO_0014320 @default.
- B6bbfda56d3184ff08f04e51a3422fc3c annotatedTarget "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." @default.