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General Information
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| Term |
lacrimoauriculodentodigital syndrome 2 |
ID (Ontology) |
DOID:0081371 (Human Disease) |
| Definition |
A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. |
| Also Known As |
"Lacrimo-auriculo-dento-digital syndrome 2" |
| 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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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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lacrimoauriculodentodigital syndrome 2 | 1 | for disease ribbon | lacrimoauriculodentodigital syndrome 2 | 1 | model of | lacrimoauriculodentodigital syndrome 2 | 1 |
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