{
    "disease_id": "DOID:0090016",
    "recommended_name": {
        "id": "DOID:0090016",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090016",
        "name": "chromosome 5q deletion syndrome",
        "description": "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q."
    },
    "synonyms": [
        {
            "id": "DOID:0090016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090016",
            "name": "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",
            "description": ""
        },
        {
            "id": "DOID:0090016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090016",
            "name": "5q- syndrome, refractory macrocytic anemia due to 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome associated with isolated del(5q)",
            "description": "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)"
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5Q minus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5Q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q- syndrome, refractory macrocytic anaemia due to 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "chromosome 5q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "macrocytic anemia, refractory, due to 5q deletion, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome with 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "myelodysplastic syndrome with isolated del(5q)",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "5q syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "MAR",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "refractory macrocytic anaemia due to 5q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007925",
            "name": "refractory macrocytic anemia due to 5q deletion",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090016"
    ],
    "unlinked_id_list": []
}