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General Information
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| Term |
visual impairment and progressive phthisis bulbi |
ID (Ontology) |
DOID:0070356 (Human Disease) |
| Definition |
An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. |
| 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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | 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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| Alleles | Genes | Human Disease Models |
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visual impairment and progressive phthisis bulbi | 1 | 1 | 1 | for disease ribbon | visual impairment and progressive phthisis bulbi | -- | 1 | -- | model of | visual impairment and progressive phthisis bulbi | 1 | 1 | -- |
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Relationships