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General Information
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| Term |
developmental and epileptic encephalopathy 44 |
ID (Ontology) |
DOID:0080424 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. |
| Also Known As |
"DEE44" ; "early infantile epileptic encephalopathy 44" |
| 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 | 16 | | 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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developmental and epileptic encephalopathy 44 | 16 | 2 | 1 | ameliorates | developmental and epileptic encephalopathy 44 | 4 | -- | -- | for disease ribbon | developmental and epileptic encephalopathy 44 | -- | 1 | -- | model of | developmental and epileptic encephalopathy 44 | 12 | 1 | -- |
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Relationships