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General Information
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| Term |
Yunis-Varon syndrome |
ID (Ontology) |
DOID:0060589 (Human Disease) |
| Definition |
A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. |
| Also Known As |
"cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" ; "cleidocranial dysplasia-micrognathia-absent thumbs 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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Yunis-Varon syndrome | 1 | 1 | for disease ribbon | Yunis-Varon syndrome | 1 | -- | model of | Yunis-Varon syndrome | 1 | -- |
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Relationships