{
    "disease_id": "DOID:0051001",
    "recommended_name": {
        "id": "DOID:0051001",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051001",
        "name": "congenital dyserythropoietic anemia type IIIb",
        "description": "A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "CDA, IIA IIIB",
            "description": ""
        },
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "CDAN3B",
            "description": ""
        },
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:619789",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619789",
            "name": "Anemia, congenital dyserythropoietic, 3B, autosomal recessive",
            "description": "Anemia, congenital dyserythropoietic, 3B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051001"
    ],
    "unlinked_id_list": []
}