Search Ontology:
Human Disease

syndromic microphthalmia 16

Term ID
DOID:0060842
Synonyms
  • isolated microphthalmia 3
  • MCOP3
Definition
An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (3)
References
Ontology
Human Disease   ( DOID:0060842 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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