{
    "disease_id": "DOID:0111703",
    "recommended_name": {
        "id": "DOID:0111703",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111703",
        "name": "familial hypertryptophanemia",
        "description": "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111703",
            "name": "HYPTRP",
            "description": ""
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "familial hypertryptophanemia",
            "description": "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria."
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "hypertryptophanemia",
            "description": ""
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "familial hypertryptophanemia",
            "description": ""
        },
        {
            "id": "MONDO:0010907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "name": "HYPTRP",
            "description": ""
        },
        {
            "id": "MIM:600627",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600627",
            "name": "Hypertryptophanemia",
            "description": "Hypertryptophanemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111703"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111703",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111703",
            "categories": []
        },
        {
            "id": "MONDO:0010907",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010907",
            "categories": []
        },
        {
            "id": "MIM:600627",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600627",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SY53-1",
            "uniprot_ac": "Q7SY53",
            "uniprot_id": "T23OB_DANRE",
            "refseq_ac": "NP_956150",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 2,3-dioxygenase B",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.11",
                    "type": "synonym"
                },
                {
                    "name": "TDO-B",
                    "type": "synonym"
                },
                {
                    "name": "TO-B",
                    "type": "synonym"
                },
                {
                    "name": "TRPO-B",
                    "type": "synonym"
                },
                {
                    "name": "Tryptamin 2,3-dioxygenase B",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan oxygenase B",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan pyrrolase B",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanase B",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase B",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tdo2b",
                    "type": "recommended"
                },
                {
                    "name": "Tdo2",
                    "type": "synonym"
                },
                {
                    "name": "fi30d08",
                    "type": "synonym"
                },
                {
                    "name": "tdo2b",
                    "type": "synonym"
                },
                {
                    "name": "tdo2l",
                    "type": "synonym"
                },
                {
                    "name": "tdo2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi30d08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63488",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SY53-1",
            "evidence": [
                {
                    "id": "0111703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A7MBU6-1",
            "uniprot_ac": "A7MBU6",
            "uniprot_id": "T23OA_DANRE",
            "refseq_ac": "NP_001096086",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 2,3-dioxygenase A",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.11",
                    "type": "synonym"
                },
                {
                    "name": "TDO-A",
                    "type": "synonym"
                },
                {
                    "name": "TO-A",
                    "type": "synonym"
                },
                {
                    "name": "TRPO-A",
                    "type": "synonym"
                },
                {
                    "name": "Tryptamin 2,3-dioxygenase A",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan oxygenase A",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan pyrrolase A",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanase A",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tdo2a",
                    "type": "recommended"
                },
                {
                    "name": "fb62b10",
                    "type": "synonym"
                },
                {
                    "name": "tdo2a",
                    "type": "synonym"
                },
                {
                    "name": "tdo2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb62b10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103693",
                    "type": "synonym"
                }
            ],
            "record_id": "A7MBU6-1",
            "evidence": [
                {
                    "id": "0111703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48776-1",
            "uniprot_ac": "P48776",
            "uniprot_id": "T23O_MOUSE",
            "refseq_ac": "NP_064295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 2,3-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.11",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "TRPO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanase",
                    "type": "synonym"
                },
                {
                    "name": "tdo variant1",
                    "type": "synonym"
                },
                {
                    "name": "tdo variant2",
                    "type": "synonym"
                },
                {
                    "name": "tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophanase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdo2",
                    "type": "recommended"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "Tdo2",
                    "type": "synonym"
                },
                {
                    "name": "Tdo",
                    "type": "synonym"
                },
                {
                    "name": "chky",
                    "type": "synonym"
                }
            ],
            "record_id": "P48776-1",
            "evidence": [
                {
                    "id": "0111703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48775-1",
            "uniprot_ac": "P48775",
            "uniprot_id": "T23O_HUMAN",
            "refseq_ac": "NP_005642",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 2,3-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.11",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "TRPO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanase",
                    "type": "synonym"
                },
                {
                    "name": "tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophanase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDO2",
                    "type": "recommended"
                },
                {
                    "name": "HYPTRP",
                    "type": "synonym"
                },
                {
                    "name": "TDO2",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "TPH2",
                    "type": "synonym"
                },
                {
                    "name": "TRPO",
                    "type": "synonym"
                }
            ],
            "record_id": "P48775-1",
            "evidence": [
                {
                    "id": "600627",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600627"
                },
                {
                    "id": "0111703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21643-1",
            "uniprot_ac": "P21643",
            "uniprot_id": "T23O_RAT",
            "refseq_ac": "NP_071798",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 2,3-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.11",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "TRPO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanase",
                    "type": "synonym"
                },
                {
                    "name": "tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase A",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan-23-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophanase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdo2",
                    "type": "recommended"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "Tdo2",
                    "type": "synonym"
                },
                {
                    "name": "Tdo",
                    "type": "synonym"
                }
            ],
            "record_id": "P21643-1",
            "evidence": [
                {
                    "id": "0111703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20351-1",
            "uniprot_ac": "P20351",
            "uniprot_id": "T23O_DROME",
            "refseq_ac": "NP_511113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 2,3-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.11",
                    "type": "synonym"
                },
                {
                    "name": "CG2155-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein vermilion",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "TO",
                    "type": "synonym"
                },
                {
                    "name": "TRPO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptamin 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan oxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan pyrrolase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanase",
                    "type": "synonym"
                },
                {
                    "name": "lethal hybrid rescue",
                    "type": "synonym"
                },
                {
                    "name": "sick",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 2,3-dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "v-PA",
                    "type": "synonym"
                },
                {
                    "name": "vermilion",
                    "type": "synonym"
                },
                {
                    "name": "vermillion",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "v",
                    "type": "recommended"
                },
                {
                    "name": "152559_at",
                    "type": "synonym"
                },
                {
                    "name": "CG2155",
                    "type": "synonym"
                },
                {
                    "name": "CG5163",
                    "type": "synonym"
                },
                {
                    "name": "Crk",
                    "type": "synonym"
                },
                {
                    "name": "DmTDO",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2155",
                    "type": "synonym"
                },
                {
                    "name": "Lhr",
                    "type": "synonym"
                },
                {
                    "name": "NP_511113",
                    "type": "synonym"
                },
                {
                    "name": "PDFR",
                    "type": "synonym"
                },
                {
                    "name": "PKA-RII",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                },
                {
                    "name": "VASA",
                    "type": "synonym"
                },
                {
                    "name": "Ver",
                    "type": "synonym"
                },
                {
                    "name": "dYARS",
                    "type": "synonym"
                },
                {
                    "name": "mle",
                    "type": "synonym"
                },
                {
                    "name": "rhoA",
                    "type": "synonym"
                },
                {
                    "name": "sda",
                    "type": "synonym"
                },
                {
                    "name": "ver",
                    "type": "synonym"
                },
                {
                    "name": "vm",
                    "type": "synonym"
                },
                {
                    "name": "v",
                    "type": "synonym"
                }
            ],
            "record_id": "P20351-1",
            "evidence": [
                {
                    "id": "0111703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111703"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111703"
}