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General Information
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| Term |
macrocephaly-autism syndrome |
ID (Ontology) |
DOID:0060867 (Human Disease) |
| Definition |
A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. |
| Also Known As |
"macrocephaly-intellectual disability-autism 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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| 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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| Genes | Human Disease Models |
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macrocephaly-autism syndrome | 1 | 1 | for disease ribbon | macrocephaly-autism syndrome | 1 | -- | model of | macrocephaly-autism syndrome | 1 | -- |
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Relationships