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- NCIT_C84611 IAO_0000115 "A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head." @default.
- NCIT_C84611 NCIT_NHC0 "C84611" @default.
- NCIT_C84611 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84611 NCIT_P108 "Canavan Disease" @default.
- NCIT_C84611 NCIT_P207 "C0206307" @default.
- NCIT_C84611 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84611 NCIT_P322 "NICHD" @default.
- NCIT_C84611 NCIT_P325 "Spongy degeneration of central nervous system, spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy." @default.
- NCIT_C84611 NCIT_R100 NCIT_C12219 @default.
- NCIT_C84611 NCIT_R100 NCIT_C12755 @default.
- NCIT_C84611 NCIT_R100 NCIT_C12919 @default.
- NCIT_C84611 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84611 NCIT_R176 NCIT_C192692 @default.
- NCIT_C84611 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84611 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84611 normalizedInformationContent "100" @default.
- NCIT_C84611 referenceCount "1" @default.
- NCIT_C84611 hasExactSynonym "Canavan Disease" @default.
- NCIT_C84611 hasExactSynonym "Spongy Degeneration of Central Nervous System" @default.
- NCIT_C84611 inSubset NCIT_C165258 @default.
- NCIT_C84611 inSubset NCIT_C192842 @default.
- NCIT_C84611 inSubset NCIT_C90259 @default.
- NCIT_C84611 inSubset NCIT_C99147 @default.
- NCIT_C84611 type Class @default.
- NCIT_C84611 isDefinedBy ncit.owl @default.
- NCIT_C84611 label "Canavan Disease" @default.
- NCIT_C84611 subClassOf B877a5ea81415f48c06c92e08baefd57c @default.
- NCIT_C84611 subClassOf Bf9bfbfa961bea0fea927afbf9c59bb48 @default.
- NCIT_C84611 subClassOf NCIT_C26835 @default.
- NCIT_C84611 subClassOf NCIT_C27551 @default.
- NCIT_C84611 subClassOf NCIT_C27588 @default.
- NCIT_C84611 subClassOf NCIT_C2991 @default.
- NCIT_C84611 subClassOf NCIT_C4873 @default.
- NCIT_C84611 subClassOf NCIT_C53529 @default.
- NCIT_C84611 subClassOf NCIT_C53531 @default.
- NCIT_C84611 subClassOf NCIT_C53543 @default.
- NCIT_C84611 subClassOf NCIT_C53547 @default.
- NCIT_C84611 subClassOf NCIT_C61253 @default.
- NCIT_C84611 subClassOf NCIT_C7057 @default.
- NCIT_C84611 subClassOf NCIT_C84611 @default.