FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Ayme-Gripp syndrome ID (Ontology) DOID:0111688 (Human Disease)
Definition A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.
Also Known As "AYGRP" ; "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation"
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 Genes
 Ayme-Gripp syndrome       1
 for disease ribbon | Ayme-Gripp syndrome       1
 model of | Ayme-Gripp syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Ayme-Gripp syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "AYGRP" EXACT OMO:0003012
    "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation" EXACT
Secondary IDs
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MESH:C563390
MIM:601088
UMLS_CUI:C1832812