FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term foveal hypoplasia 1 ID (Ontology) DOID:0070530 (Human Disease)
Definition A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
Also Known As "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" ; "FVH1"
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 Genes
 foveal hypoplasia 1       2
 for disease ribbon | foveal hypoplasia 1       2
 model of | foveal hypoplasia 1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
eye disease                     |
 |__retinal disease_____________|
                                foveal hypoplasia 1  2 rec.
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Is a autosomal dominant disease
retinal disease
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Synonyms
  • "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" EXACT
    "foveal hypoplasia-presenile cataract syndrome" NARROW
    "FVH1" EXACT OMO:0003012
    "O'Donnell-Pappas syndrome" NARROW
Secondary IDs
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MIM:136520