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Metadata
ID	DOID:0060842
Name	isolated microphthalmia 3
Definition	An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/18783408, https://www.ncbi.nlm.nih.gov/pubmed/14662654
Xrefs	ICD10CM:Q11.0 MIM:611038 ORDO:2542
Subsets	DO_rare_slim
Synonyms	MCOP3 [EXACT]
Parent Relationships	is_a isolated microphthalmia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance