About   Help   FAQ
Disease Ontology Browser
cystathioninuria (DOID:0090142)
Alliance: disease page
Synonyms: cystathionase deficiency; cystathione gamma-lyase deficiency syndrome; gamma-cystathionase deficiency
Alt IDs: OMIM:219500, ICD10CM:E72.19, MESH:C535408, NCI:C129070, ORDO:212, UMLS_CUI:C0220993, UMLS_CUI:C0268616
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory