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Query
Disease
Symptom
Cystathionine beta-synthase deficiency
Symptom Information:
Symptom ID:
MedDRA:10071093
Synonyms:
Cystathionine beta-synthase deficiency [OMIM:Cystathionine beta-synthase deficiency]
Quality:
Cross references:
OMIM: "Cystathionine beta-synthase deficiency" [OMIM:Cystathionine beta-synthase deficiency]
Is a (Direct Parents):
MedDRA
Abnormality of amino acid metabolism
Is a (Whole tree):
HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
Metabolic and nutritional disorders congenital(MedDRA:10027424)
Abnormality of amino acid metabolism(HPO:0004337)
Cystathionine beta-synthase deficiency(MedDRA:10071093)
Metabolism and nutrition disorders(MedDRA:10027433)
Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
Amino acid metabolism disorders NEC(MedDRA:10036999)
Abnormality of amino acid metabolism(HPO:0004337)
Cystathionine beta-synthase deficiency(MedDRA:10071093)
Investigations(MedDRA:10022891)
Protein and chemistry analyses NEC(MedDRA:10037000)
Protein analyses NEC(MedDRA:10036998)
Abnormality of amino acid metabolism(HPO:0004337)
Cystathionine beta-synthase deficiency(MedDRA:10071093)
Database Frequency:
1 / 7739
Resource:
All diseases associated with this symptom:
Classical homocystinuria
(Orphanet:394)