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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

OMIM: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

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