Search Ontology:
Human Disease
isolated microphthalmia 3
- Term ID
- DOID:0060842
- Synonyms
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- MCOP3
- 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. (2)
- References
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- ICD10CM:Q11.0
- MIM:611038
- ORDO:2542
- Ontology
- Human Disease ( DOID:0060842 )
- is a type of
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