Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Compound
Query: UMLS:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had
ptosis
.
Restrictive lung disease
is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.
...
PMID:Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. 1538 6