Gene Expression Ontology

Last uploaded: December 16, 2015
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Preferred Name

Cystathionine beta-synthase deficiency
Synonyms

CBSD
Definitions

(CBSD) - An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.
ID

http://identifiers.org/omim/236200
altLabel

CBSD
definition

(CBSD) - An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.
id

OMIM:236200
notation

OMIM:236200
prefLabel

Cystathionine beta-synthase deficiency
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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