FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term homocystinuria ID (Ontology) DOID:9263 (Human Disease)
Definition An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Also Known As "CBS deficiency" ; "cystathionine beta synthase deficiency" ; "cystathionine synthase deficiency"
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Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       4
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 homocystinuria       4      3      1
 for disease ribbon | homocystinuria       --       2       --
 model of | homocystinuria       4      2       --
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__homocystinuria  8 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "CBS deficiency" EXACT
    "cystathionine beta synthase deficiency" EXACT
    "cystathionine synthase deficiency" EXACT
Secondary IDs
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GARD:10770
ICD10CM:E72.11
MESH:D006712
MIM:236200
MIM:236250
NCI:C84765
ORDO:394
SNOMEDCT_US_2023_03_01:190709008
UMLS_CUI:C0019880