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General Information
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| Term |
syndromic X-linked intellectual disorder Lujan-Fryns-type |
ID (Ontology) |
DOID:0080985 (Human Disease) |
| Definition |
A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. |
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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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No relevant records available
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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 |
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syndromic X-linked intellectual disorder Lujan-Fryns-type | 1 | for disease ribbon | syndromic X-linked intellectual disorder Lujan-Fryns-type | 1 | model of | syndromic X-linked intellectual disorder Lujan-Fryns-type | 1 |
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Relationships