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General Information
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| Term |
neuronal ceroid lipofuscinosis 1 |
ID (Ontology) |
DOID:0110721 (Human Disease) |
| Definition |
A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. |
| Also Known As |
"CLN1" ; "neuronal ceroid lipofuscinosis 1 variable age of onset" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 6 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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neuronal ceroid lipofuscinosis 1 | 6 | 2 | 1 | for disease ribbon | neuronal ceroid lipofuscinosis 1 | -- | 1 | -- | model of | neuronal ceroid lipofuscinosis 1 | 6 | 1 | -- |
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Relationships