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Human Disease

syndromic microphthalmia 12

Term ID
DOID:0111800
Synonyms
  • MCOPS12
  • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Definition
A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. (2)
References
Ontology
Human Disease   ( DOID:0111800 )
Relationships
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Genes Involved
Zebrafish Models