OBO ID: DOID:0090142
Term Name: cystathioninuria Search Ontology:
Synonyms:
  • cystathionase deficiency
  • cystathione gamma-lyase deficiency syndrome
  • gamma-cystathionase deficiency
Definition: An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. (2)
References:
  • GARD:2428
  • ICD10CM:E72.19
  • MESH:C535408
  • NCI:C129070
  • OMIM:219500
  • ORDO:212
  • SNOMEDCT_US_2023_03_01:13003007
  • SNOMEDCT_US_2023_03_01:6885006
  • UMLS_CUI:C0220993
  • UMLS_CUI:C0268616
Ontology: Human Disease   ( DOID:0090142 )
Relationships
is a type of:
OTHER cystathioninuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTH Cystathioninuria 219500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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