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General Information
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| Term |
Nicolaides-Baraitser syndrome |
ID (Ontology) |
DOID:0081441 (Human Disease) |
| Definition |
A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. |
| Also Known As |
"Intellectual disability-sparse hair-brachydactyly syndrome" ; "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME" |
| 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 | | 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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Nicolaides-Baraitser syndrome | 1 | 1 | 1 | for disease ribbon | Nicolaides-Baraitser syndrome | -- | 1 | -- | model of | Nicolaides-Baraitser syndrome | 1 | 1 | -- |
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Relationships