Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Incontinentia pigmenti is a rare, X-linked dominant, genodermatosis and is almost always lethal in males. It is characterized by cutaneous, ocular, dental, and central nervous system (CNS) abnormalities and about 35% of patients develop some form of ocular abnormality, which may include retinal vascular abnormalities, ischemic retinal infarctions, retinal detachments, cataracts, uveitis, strabismus, and
nystagmus
. Incontinentia pigmenti has been linked to the
NEMO
gene, which is mapped to Xq28.
...
PMID:Fluorescein angiographic findings in a male infant with incontinentia pigmenti. 1749 89
