All diseases

OMIM ID
236200
OMIM term:
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Alternative terms:
HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CBS DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
(∗) Location:
21q22.3  
(†) Associated OMIM genes:
CBS  
(‡) Associated MGI genes:
Cbs  

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* quick link - http://q.sanger.ac.uk/8pumgi2g