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General Information
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| Term |
Billuart-type X-linked syndromic intellectual developmental disorder |
ID (Ontology) |
DOID:0080311 (Human Disease) |
| Definition |
A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. |
| Also Known As |
"X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance" |
| 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 | 5 | | 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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Billuart-type X-linked syndromic intellectual developmental disorder | 5 | 4 | 1 | ameliorates | Billuart-type X-linked syndromic intellectual developmental disorder | 4 | -- | -- | for disease ribbon | Billuart-type X-linked syndromic intellectual developmental disorder | -- | 1 | -- | model of | Billuart-type X-linked syndromic intellectual developmental disorder | 1 | 1 | -- |
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Relationships