FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cataract 1 multiple types ID (Ontology) DOID:0110231 (Human Disease)
Definition A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
Also Known As "cataract 1, multiple types, with or without microcornea" ; "CTRCT1" ; "Duffy linked cataract"
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monogenic disease
 |__cataract____________________
autosomal genetic disease       |
 |__autosomal dominant disease__|
lens disease                    |
 |__cataract____________________|
                                cataract 1 multiple types
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Is a autosomal dominant disease
cataract
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Synonyms
  • "CAE1" NARROW OMO:0003012
    "cataract 1, multiple types, with or without microcornea" EXACT
    "CTRCT1" EXACT OMO:0003012
    "CZP1" NARROW OMO:0003012
    "Duffy linked cataract" EXACT
    "zonular pulverulent cataract 1" NARROW
Secondary IDs
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ICD10CM:Q12.0
MIM:116200