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Disease Ontology Browser
homocystinuria (DOID:9263)
Alliance: disease page
Synonyms: CBS deficiency; cystathionine beta synthase deficiency; cystathionine synthase deficiency
Alt IDs: OMIM:236200, OMIM:236250, ICD10CM:E72.11, MESH:D006712, NCI:C84765, ORDO:394, UMLS_CUI:C0019880
Definition: An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/25/2025
MGI 6.24 		The Jackson Laboratory