Search Ontology:
Human Disease

syndromic microphthalmia 11

Term ID
DOID:0111804
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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