{
    "disease_id": "DOID:0090117",
    "recommended_name": {
        "id": "DOID:0090117",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090117",
        "name": "thiamine-responsive megaloblastic anemia syndrome",
        "description": "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24."
    },
    "synonyms": [
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "Rogers syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "THMD1",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "TRMA",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine metabolism dysfunction syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine-responsive anaemia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine-responsive anemia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine-responsive megaloblastic anaemia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "name": "thiamine-responsive myelodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine-responsive megaloblastic anemia syndrome",
            "description": "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "Rogers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "THMD1",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "TRMA",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine metabolism dysfunction syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine-responsive anemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine-responsive megaloblastic anemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine-responsive myelodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine responsive megaloblastic anaemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine responsive megaloblastic anemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "name": "thiamine-responsive Anaemia syndrome",
            "description": ""
        },
        {
            "id": "MIM:249270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/249270",
            "name": "Thiamine-responsive megaloblastic anemia syndrome",
            "description": "Thiamine-responsive megaloblastic anemia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090117"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090117",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090117",
            "categories": []
        },
        {
            "id": "MONDO:0009575",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009575",
            "categories": []
        },
        {
            "id": "MIM:249270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/249270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F340-1",
            "uniprot_ac": "E7F340",
            "uniprot_id": "E7F340_DANRE",
            "refseq_ac": "XP_005168792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc19a2",
                    "type": "recommended"
                },
                {
                    "name": "slc19a2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F340-1",
            "evidence": [
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQN9-1",
            "uniprot_ac": "Q9EQN9",
            "uniprot_id": "S19A2_MOUSE",
            "refseq_ac": "NP_001263384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 19 member 2",
                    "type": "synonym"
                },
                {
                    "name": "ThTr-1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 member 2",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc19a2",
                    "type": "recommended"
                },
                {
                    "name": "DDA1",
                    "type": "synonym"
                },
                {
                    "name": "Slc19a2",
                    "type": "synonym"
                },
                {
                    "name": "THTR1",
                    "type": "synonym"
                },
                {
                    "name": "TRMA",
                    "type": "synonym"
                },
                {
                    "name": "ThTr-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQN9-1",
            "evidence": [
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60779-1",
            "uniprot_ac": "O60779",
            "uniprot_id": "S19A2_HUMAN",
            "refseq_ac": "NP_001306596",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 19 member 2",
                    "type": "synonym"
                },
                {
                    "name": "TC1",
                    "type": "synonym"
                },
                {
                    "name": "ThTr-1",
                    "type": "synonym"
                },
                {
                    "name": "ThTr1",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity thiamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate carrier protein (RFC) like",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (thiamine transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "thTr-1",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "thiamine-responsive megaloblastic anaemia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC19A2",
                    "type": "recommended"
                },
                {
                    "name": "SLC19A2",
                    "type": "synonym"
                },
                {
                    "name": "TC1",
                    "type": "synonym"
                },
                {
                    "name": "THMD1",
                    "type": "synonym"
                },
                {
                    "name": "THT1",
                    "type": "synonym"
                },
                {
                    "name": "THTR1",
                    "type": "synonym"
                },
                {
                    "name": "TRMA",
                    "type": "synonym"
                }
            ],
            "record_id": "O60779-1",
            "evidence": [
                {
                    "id": "249270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/249270"
                },
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499Q0-1",
            "uniprot_ac": "Q499Q0",
            "uniprot_id": "Q499Q0_RAT",
            "refseq_ac": "NP_001025195",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 19 member 2",
                    "type": "synonym"
                },
                {
                    "name": "ThTr-1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (thiamine transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "thiamine transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc19a2",
                    "type": "recommended"
                },
                {
                    "name": "Slc19a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499Q0-1",
            "evidence": [
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGV5-1",
            "uniprot_ac": "Q9VGV5",
            "uniprot_id": "Q9VGV5_DROME",
            "refseq_ac": "NP_650029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG6574-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6574",
                    "type": "recommended"
                },
                {
                    "name": "CG6574",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6574",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6574",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGV5-1",
            "evidence": [
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK64-1",
            "uniprot_ac": "Q9VK64",
            "uniprot_id": "Q9VK64_DROME",
            "refseq_ac": "NP_001285882",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG17036-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG17036",
                    "type": "recommended"
                },
                {
                    "name": "CG17036",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17036",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17036",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK64-1",
            "evidence": [
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGV6-1",
            "uniprot_ac": "Q9VGV6",
            "uniprot_id": "Q9VGV6_DROME",
            "refseq_ac": "NP_650028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiamine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG14694-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14694",
                    "type": "recommended"
                },
                {
                    "name": "CG14694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14694",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGV6-1",
            "evidence": [
                {
                    "id": "0090117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090117"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090117"
}