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- B52b9ed01237482058021540fbcad97e2 NCIT_P378 "NCI" @default.
- B52b9ed01237482058021540fbcad97e2 type Axiom @default.
- B52b9ed01237482058021540fbcad97e2 annotatedProperty IAO_0000115 @default.
- B52b9ed01237482058021540fbcad97e2 annotatedSource NCIT_C85184 @default.
- B52b9ed01237482058021540fbcad97e2 annotatedTarget "A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis." @default.