loading...| Preferred Name |
Canavan Disease [Disease/Finding] |
|
| Synonyms |
Spongy Degeneration Of Central Nervous System |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003642 |
|
| altLabel |
Spongy Degeneration Of Central Nervous System Spongy Degeneration of White Matter In Infancy Spongy Degeneration of the Central Nervous System Spongy Degeneration of the Brain Canavan Disease Van Bogaert-Bertrand Syndrome Canavan-van Bogaert-Bertrand Disease Von Bogaert-Bertrand Disease Spongy Disease of White Matter Spongy Degeneration of Infancy Leukodystrophy, Spongiform Spongy Disease of Central Nervous System |
|
| cui |
C0206307 |
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| MESH DEFINITION |
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) |
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| MESH DUI |
D017825 |
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| MeSH name |
Canavan Disease |
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| MESH UI |
M0026932 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003642 |
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| NUI |
N0000003642 |
|
| prefLabel |
Canavan Disease [Disease/Finding] |
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| SNOMED CID |
80544005 |
|
| tui |
T047 |
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| subClassOf |