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DO Term : Opitz GBBB syndrome [DOID:0080697] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • KEGG:H00583,
  • 300000,
  • OMIM:300000,
  • GARD:193,
  • DOID:0050780,
  • Opitz GBBB syndrome type I,
  • Opitz G/BBB Syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents