Search Ontology:
Human Disease

isolated microphthalmia 2

Term ID
DOID:0060839
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0060839 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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