OBO ID: DOID:0111806
Term Name: syndromic microphthalmia 5 Search Ontology:
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 OTX2 on chromosome 14q22.3. https://www.ncbi.nlm.nih.gov/pubmed/15846561
References:
Ontology: Human Disease   (DOID:0111806)
OTHER syndromic microphthalmia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OTX2 Microphthalmia, syndromic 5 610125
Retinal dystrophy, early-onset, with or without pituitary dysfunction 610125
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None