Congenital Abnormality
microphthalmos
Subclass of:
Eye Abnormalities
Definitions related to microphthalmos:
  • A congenital abnormality characterized by the presence of an abnormally small eye globe.
    NCI
    U.S. National Cancer Institute, 2021
  • (microphthalmia) A developmental anomaly characterized by abnormal smallness of one or both eyes.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2025
  • Congenital or developmental anomaly in which the eyeballs are abnormally small.
    CRISP Thesaurus
    National Institutes of Health, 2006
  • A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.