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General Information
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| Term |
neurodevelopmental disorder with speech impairment and dysmorphic facies |
ID (Ontology) |
DOID:0070417 (Human Disease) |
| Definition |
A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. |
| Also Known As |
"NEDSID" |
| 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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neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | 1 | 1 | for disease ribbon | neurodevelopmental disorder with speech impairment and dysmorphic facies | -- | 1 | -- | model of | neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | 1 | -- |
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Relationships