Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8c72079b876db8a3a4937c02771136ad> ?p ?o ?g. }
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- B8c72079b876db8a3a4937c02771136ad hasDbXref "Orphanet:2818" @default.
- B8c72079b876db8a3a4937c02771136ad type Axiom @default.
- B8c72079b876db8a3a4937c02771136ad annotatedProperty IAO_0000115 @default.
- B8c72079b876db8a3a4937c02771136ad annotatedSource MONDO_0010049 @default.
- B8c72079b876db8a3a4937c02771136ad annotatedTarget "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." @default.