Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Baa6d522a045a85066d1c6aeb90b16b6c> ?p ?o ?g. }
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- Baa6d522a045a85066d1c6aeb90b16b6c hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Baa6d522a045a85066d1c6aeb90b16b6c hasDbXref "https://rarediseases.info.nih.gov/diseases/849/behr-syndrome" @default.
- Baa6d522a045a85066d1c6aeb90b16b6c type Axiom @default.
- Baa6d522a045a85066d1c6aeb90b16b6c annotatedProperty IAO_0000115 @default.
- Baa6d522a045a85066d1c6aeb90b16b6c annotatedSource MONDO_0008858 @default.
- Baa6d522a045a85066d1c6aeb90b16b6c annotatedTarget "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." @default.