Search Ontology:
Human Disease
isolated microphthalmia 2
- Term ID
- DOID:0060839
- Synonyms
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- MCOP2
- Definition
- An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (2)
- References
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- ICD10CM:Q11.0
- MIM:610093
- ORDO:2542
- Ontology
- Human Disease ( DOID:0060839 )
- is a type of
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Genes Involved
Zebrafish Models