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Human Disease

isolated microphthalmia 6

Term ID
DOID:0060835
Synonyms
  • MCOP6
  • posterior nonsyndromic microphthalmia
Definition
An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (2)
References
Ontology
Human Disease   ( DOID:0060835 )
Relationships
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Genes Involved
Zebrafish Models