Search Ontology: 
        
        Human Disease
            homocystinuria
- Term ID
- DOID:9263
- Synonyms
- 
    
        
        - CBS deficiency
- cystathionine beta synthase deficiency
- cystathionine synthase deficiency
 
- Definition
- An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. http://en.wikipedia.org/wiki/Homocystinuria
- References
- 
    
        
        
    
    - GARD:10770
- ICD10CM:E72.11
- MESH:D006712
- MIM:236200
- MIM:236250
- NCI:C84765
- ORDO:394
- SNOMEDCT_US_2023_03_01:190709008
- UMLS_CUI:C0019880
 
- Ontology
- Human Disease ( DOID:9263 )
                
                    
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