OBO ID: DOID:0111800
Term Name: syndromic microphthalmia 12 Search Ontology:
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 )
OTHER syndromic microphthalmia 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RARB Microphthalmia, syndromic 12
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None