DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease cystathioninuria DOID:0090142 GARD:2428 ICD10CM:E72.19 SNOMEDCT_US_2025_09_01:6885006 UMLS_CUI:C0220993 disease_ontology 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. ORDO:212 MESH:C535408 NCI:C129070 SNOMEDCT_US_2025_09_01:13003007 MIM:219500 UMLS_CUI:C0268616 cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency amino acid metabolic disorder autosomal recessive inheritance