Search Ontology:
Human Disease

syndromic microphthalmia 5

Term ID
DOID:0111806
Synonyms
  • MCOPS5
  • syndromic microphthalmia type 5
  • syndromic microphthalmia/anophthalmia due to OTX2 mutation
Definition
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. https://www.ncbi.nlm.nih.gov/pubmed/15846561
References
Ontology
Human Disease   ( DOID:0111806 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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