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MedGen for PubMed (Select 21379331)

Items: 3

1.

Buphthalmos

Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. [from HPO]

MedGen UID:
504496
Concept ID:
CN000523
Finding
2.

Myopia 17, autosomal dominant

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. [from OMIM]

MedGen UID:
833922
Concept ID:
CN031794
Disease or Syndrome
3.

Enlarged peripheral nerve

MedGen UID:
390701
Concept ID:
C2675074
Finding
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