OBO ID: DOID:0060835
Term Name: isolated microphthalmia 6 Search Ontology:
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
is a type of:
OTHER isolated microphthalmia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRSS56 Microphthalmia, isolated 6 613517
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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