FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term isolated microphthalmia 6 ID (Ontology) DOID:0060835 (Human Disease)
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.
Also Known As "MCOP6" ; "posterior nonsyndromic microphthalmia"
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 Genes
 isolated microphthalmia 6      10
 for disease ribbon | isolated microphthalmia 6      10
 model of | isolated microphthalmia 6      10
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
microphthalmia                   |
 |__isolated microphthalmia______|
                                 isolated microphthalmia 6  10 rec.
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Is a autosomal recessive disease
isolated microphthalmia
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Synonyms
  • "MCOP6" EXACT OMO:0003012
    "posterior nonsyndromic microphthalmia" EXACT
Secondary IDs
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ICD10CM:Q11.0
MIM:613517
ORDO:2542