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General Information
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| Term |
autosomal dominant cutis laxa 3 |
ID (Ontology) |
DOID:0070131 (Human Disease) |
| Definition |
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. |
| Also Known As |
"ADCL3" |
| 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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autosomal dominant cutis laxa 3 | 1 | for disease ribbon | autosomal dominant cutis laxa 3 | 1 | model of | autosomal dominant cutis laxa 3 | 1 |
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Relationships