Search Ontology:
Human Disease
cystathioninuria
- Term ID
- DOID:0090142
- Synonyms
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- 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
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- GARD:2428
- ICD10CM:E72.19
- MESH:C535408
- MIM:219500
- NCI:C129070
- 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 )
- is a type of
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Zebrafish Models