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General Information
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| Term |
autosomal dominant intellectual developmental disorder 55 |
ID (Ontology) |
DOID:0080227 (Human Disease) |
| Definition |
An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. |
| Also Known As |
"autosomal dominant intellectual developmental disorder-55 with seizures" ; "autosomal dominant mental retardation 55" |
| 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 | 2 | | 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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autosomal dominant intellectual developmental disorder 55 | 2 | 1 | 1 | for disease ribbon | autosomal dominant intellectual developmental disorder 55 | -- | 1 | -- | model of | autosomal dominant intellectual developmental disorder 55 | 2 | 1 | -- |
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Relationships