OBO ID: DOID:0111826
Term Name: Abruzzo-Erickson syndrome Search Ontology:
Synonyms:
  • CHARGE-like syndrome, X-linked
  • cleft palate-coloboma-deafness syndrome
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. (2)
References:
Ontology: Human Disease   ( DOID:0111826 )
Relationships
is a type of:
OTHER Abruzzo-Erickson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX22 ?Abruzzo-Erickson syndrome 302905
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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