{
    "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": []
}