{
    "disease_id": "DOID:0090142",
    "recommended_name": {
        "id": "DOID:0090142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090142",
        "name": "cystathioninuria",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "name": "cystathionase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "name": "cystathione gamma-lyase deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "name": "gamma-cystathionase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathioninuria",
            "description": "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases."
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathionase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathioninuria",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "cystathioninuria (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "name": "gamma-cystathionase deficiency",
            "description": ""
        },
        {
            "id": "MIM:219500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219500",
            "name": "Cystathioninuria",
            "description": "Cystathioninuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090142"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090142",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090142",
            "categories": []
        },
        {
            "id": "MONDO:0009058",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009058",
            "categories": []
        },
        {
            "id": "MIM:219500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/219500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JR39-1",
            "uniprot_ac": "A0AC58JR39",
            "uniprot_id": "A0AC58JR39_DANRE",
            "refseq_ac": "XP_073808940",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystathionine gamma-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.1",
                    "type": "synonym"
                },
                {
                    "name": "4.4.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "Homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cystathionase (cystathionine gamma-lyase), like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cthl",
                    "type": "recommended"
                },
                {
                    "name": "cthl",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92377",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JR39-1",
            "evidence": [
                {
                    "id": "0090142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QPF7-1",
            "uniprot_ac": "F1QPF7",
            "uniprot_id": "F1QPF7_DANRE",
            "refseq_ac": "NP_997769",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystathionine gamma-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.1",
                    "type": "synonym"
                },
                {
                    "name": "4.4.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "Homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cystathionine gamma-lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cth",
                    "type": "recommended"
                },
                {
                    "name": "cth",
                    "type": "synonym"
                },
                {
                    "name": "fb58d08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb48e03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb58d08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66001",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85785",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QPF7-1",
            "evidence": [
                {
                    "id": "0090142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCN5-1",
            "uniprot_ac": "Q8VCN5",
            "uniprot_id": "CGL_MOUSE",
            "refseq_ac": "NP_666065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystathionine gamma-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.1",
                    "type": "synonym"
                },
                {
                    "name": "4.4.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CGL",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "Homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cystathionase (cystathionine gamma-lyase)",
                    "type": "synonym"
                },
                {
                    "name": "cystathionine gamma-lyase",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "homocysteine desulfhydrase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cth",
                    "type": "recommended"
                },
                {
                    "name": "0610010I13Rik",
                    "type": "synonym"
                },
                {
                    "name": "CGL",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "Cth",
                    "type": "synonym"
                },
                {
                    "name": "Cys3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCN5-1",
            "evidence": [
                {
                    "id": "0090142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32929-1",
            "uniprot_ac": "P32929",
            "uniprot_id": "CGL_HUMAN",
            "refseq_ac": "NP_001177392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystathionine gamma-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.1",
                    "type": "synonym"
                },
                {
                    "name": "4.4.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CGL",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "Homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cystathionase (cystathionine gamma-lyase)",
                    "type": "synonym"
                },
                {
                    "name": "cystathionine gamma-lyase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "homoserine deaminase",
                    "type": "synonym"
                },
                {
                    "name": "homoserine dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTH",
                    "type": "recommended"
                },
                {
                    "name": "CGL",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "CTH",
                    "type": "synonym"
                }
            ],
            "record_id": "P32929-1",
            "evidence": [
                {
                    "id": "219500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/219500"
                },
                {
                    "id": "0090142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31373-1",
            "uniprot_ac": "P31373",
            "uniprot_id": "CYS3_YEAST",
            "refseq_ac": "NP_009390",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystathionine gamma-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "Sulfur transfer protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cystathionine gamma-lyase CYS3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-CTLase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYS3",
                    "type": "recommended"
                },
                {
                    "name": "CYI1",
                    "type": "synonym"
                },
                {
                    "name": "CYS3",
                    "type": "synonym"
                },
                {
                    "name": "FUN35",
                    "type": "synonym"
                },
                {
                    "name": "STR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P31373-1",
            "evidence": [
                {
                    "id": "0090142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18757-1",
            "uniprot_ac": "P18757",
            "uniprot_id": "CGL_RAT",
            "refseq_ac": "NP_058770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystathionine gamma-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.4.1.1",
                    "type": "synonym"
                },
                {
                    "name": "4.4.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CGL",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "CTL target antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "Homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "PRB-RA",
                    "type": "synonym"
                },
                {
                    "name": "Probasin-related antigen",
                    "type": "synonym"
                },
                {
                    "name": "cystathionase (cystathionine gamma-lyase)",
                    "type": "synonym"
                },
                {
                    "name": "cystathionine gamma-lyase",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-protein sulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-cystathionase",
                    "type": "synonym"
                },
                {
                    "name": "homocysteine desulfhydrase",
                    "type": "synonym"
                },
                {
                    "name": "probasin-related antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cth",
                    "type": "recommended"
                },
                {
                    "name": "CGL",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "Cth",
                    "type": "synonym"
                }
            ],
            "record_id": "P18757-1",
            "evidence": [
                {
                    "id": "0090142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090142"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090142"
}