{
    "disease_id": "DOID:0110942",
    "recommended_name": {
        "id": "DOID:0110942",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110942",
        "name": "autosomal recessive osteopetrosis 1",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110942",
            "name": "OPTB1",
            "description": ""
        },
        {
            "id": "DOID:0110942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110942",
            "name": "autosomal recessive Albers-Schonberg disease",
            "description": ""
        },
        {
            "id": "DOID:0110942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110942",
            "name": "infantile malignant osteopetrosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis 1",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene."
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "OPTB1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "TCIRG1 autosomal recessive malignant osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "TCIRG1 autosomal recessive osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive Albers-Schonberg disease",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis caused by mutation in TCIRG1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "infantile malignant osteopetrosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "marble bones autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis infantile malignant 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MIM:259700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259700",
            "name": "Osteopetrosis, autosomal recessive 1",
            "description": "Osteopetrosis, autosomal recessive 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110942"
    ],
    "unlinked_id_list": []
}