FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Abruzzo-Erickson syndrome ID (Ontology) DOID:0111826 (Human Disease)
Definition A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
Also Known As "CHARGE-like syndrome, X-linked" ; "cleft palate-coloboma-deafness syndrome"
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 Genes
 Abruzzo-Erickson syndrome       6
 for disease ribbon | Abruzzo-Erickson syndrome       6
 model of | Abruzzo-Erickson syndrome       6
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
disease                         |
 |__syndrome____________________|
                                Abruzzo-Erickson syndrome  6 rec.
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Is a X-linked monogenic disease
syndrome
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Synonyms
  • "CHARGE-like syndrome, X-linked" EXACT
    "cleft palate-coloboma-deafness syndrome" EXACT
Secondary IDs
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GARD:360
MESH:C535559
MIM:302905
ORDO:921
SNOMEDCT_US_2023_03_01:718574003
UMLS_CUI:C1844862