OBO ID: DOID:0080697
Term Name: Opitz GBBB syndrome Search Ontology:
Synonyms:
  • Opitz GBBB syndrome type I
Definition: A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (7)
References:
Ontology: Human Disease   ( DOID:0080697 )
Relationships
is a type of:
OTHER Opitz GBBB syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MID1 Opitz GBBB syndrome 300000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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