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General Information
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| Term |
developmental and epileptic encephalopathy 71 |
ID (Ontology) |
DOID:0112207 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. |
| Also Known As |
"DEE71" ; "early infantile epileptic encephalopathy 71" ; "glutaminase deficiency with neonatal epileptic encephalopathy" |
| 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 | 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 |
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developmental and epileptic encephalopathy 71 | 1 | 1 | for disease ribbon | developmental and epileptic encephalopathy 71 | -- | 1 | model of | developmental and epileptic encephalopathy 71 | 1 | 1 |
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Relationships