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:C0086543 (
cataract
)
29,165
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 25-year-old woman presented with gradual dimness of vision in the left eye with history of recurrent cutaneous bullae, photosensitivity and passage of red coloured urine. Examination revealed
cataract
and high intra-ocular pressure in left eye and symmetrical areas of scleral thinning in both eyes. Systemic features of the patient pointed towards
congenital erythropoietic porphyria
, which was established by laboratory investigations.
...
PMID:Bilateral scleromalacia in a case of congenital erythropoietic porphyria. 1724 Aug 17
