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- NCIT_C85184 IAO_0000115 "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.
- NCIT_C85184 NCIT_NHC0 "C85184" @default.
- NCIT_C85184 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C85184 NCIT_P107 "Tay-Sachs Disease" @default.
- NCIT_C85184 NCIT_P108 "Tay-Sachs Disease" @default.
- NCIT_C85184 NCIT_P207 "C0039373" @default.
- NCIT_C85184 NCIT_P322 "CTRP" @default.
- NCIT_C85184 NCIT_P322 "Cellosaurus" @default.
- NCIT_C85184 NCIT_P322 "mCode" @default.
- NCIT_C85184 normalizedInformationContent "100" @default.
- NCIT_C85184 referenceCount "1" @default.
- NCIT_C85184 hasExactSynonym "Tay-Sachs Disease" @default.
- NCIT_C85184 hasExactSynonym "Tay-Sachs disease" @default.
- NCIT_C85184 inSubset NCIT_C116977 @default.
- NCIT_C85184 inSubset NCIT_C118168 @default.
- NCIT_C85184 inSubset NCIT_C165258 @default.
- NCIT_C85184 inSubset NCIT_C192842 @default.
- NCIT_C85184 inSubset NCIT_C193006 @default.
- NCIT_C85184 inSubset NCIT_C193197 @default.
- NCIT_C85184 type Class @default.
- NCIT_C85184 isDefinedBy ncit.owl @default.
- NCIT_C85184 label "Tay-Sachs Disease" @default.
- NCIT_C85184 subClassOf NCIT_C117254 @default.
- NCIT_C85184 subClassOf NCIT_C197908 @default.
- NCIT_C85184 subClassOf NCIT_C2991 @default.
- NCIT_C85184 subClassOf NCIT_C3235 @default.
- NCIT_C85184 subClassOf NCIT_C34816 @default.
- NCIT_C85184 subClassOf NCIT_C4873 @default.
- NCIT_C85184 subClassOf NCIT_C53529 @default.
- NCIT_C85184 subClassOf NCIT_C53543 @default.
- NCIT_C85184 subClassOf NCIT_C53547 @default.
- NCIT_C85184 subClassOf NCIT_C61250 @default.
- NCIT_C85184 subClassOf NCIT_C7057 @default.
- NCIT_C85184 subClassOf NCIT_C85184 @default.
- NCIT_C85184 subClassOf NCIT_C97092 @default.