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Metadata
ID	DOID:0060835
Name	isolated microphthalmia 6
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. https://www.ncbi.nlm.nih.gov/pubmed/15823920, https://www.ncbi.nlm.nih.gov/pubmed/21397065
Xrefs	ICD10CM:Q11.0 MIM:613517 ORDO:2542
Subsets	DO_rare_slim
Synonyms	MCOP6 [EXACT] posterior nonsyndromic microphthalmia [EXACT]
Parent Relationships	is_a isolated microphthalmia is_a autosomal recessive disease