OBO ID: DOID:0111804
Term Name: syndromic microphthalmia 11 Search Ontology:
Synonyms:
  • MCOPS11
Definition: A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. https://www.ncbi.nlm.nih.gov/pubmed/22095910
References:
Ontology: Human Disease   (DOID:0111804)
OTHER syndromic microphthalmia 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VAX1 ?Microphthalmia, syndromic 11 614402
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None