OBO ID: DOID:0081016
Term Name: congenital fibrosis of the extraocular muscles 2 Search Ontology:
Synonyms:
Definition: A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/11600883/
References:
Ontology: Human Disease   (DOID:0081016)
OTHER congenital fibrosis of the extraocular muscles 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHOX2A Fibrosis of extraocular muscles, congenital, 2 602078
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None