Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypophosphatasia is a rare inborn error of metabolism. Ocular signs of hypophosphatasia previously described are blue sclera, band keratopathy, conjunctival calcification, cataract, optic atrophy and the complications of craniostenosis. This paper reports the association of a pigmentary dystrophy similar to rod/cone dystrophy with hypophosphatasia.
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PMID:Atypical retinitis pigmentosa with hypophosphatasia. 659 89