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Metadata
ID DOID:0060841
Name isolated microphthalmia 8
Definition An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
https://www.ncbi.nlm.nih.gov/pubmed/23312594, https://www.ncbi.nlm.nih.gov/pubmed/23591992
Xrefs

ICD10CM:Q11.0

OMIM:615113

ORDO:2542

Synonyms

MCOP8 [EXACT]

Parent Relationships

is_a isolated microphthalmia

is_a autosomal recessive disease

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