{
    "disease_id": "DOID:0110944",
    "recommended_name": {
        "id": "DOID:0110944",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110944",
        "name": "autosomal recessive osteopetrosis 4",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110944",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110944",
            "name": "OPTB4",
            "description": ""
        },
        {
            "id": "DOID:0110944",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110944",
            "name": "infantile malignant osteopetrosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "autosomal recessive osteopetrosis 4",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene."
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "CLCN7 autosomal recessive malignant osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "CLCN7 autosomal recessive osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "CLCN7-related osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "OPTB4",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "autosomal recessive osteopetrosis caused by mutation in CLCN7",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "autosomal recessive osteopetrosis type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "infantile malignant osteopetrosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "osteopetrosis, autosomal recessive type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "osteopetrosis autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "osteopetrosis infantile malignant 2",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "osteopetrosis, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "osteopetrosis, infantile malignant 2",
            "description": ""
        },
        {
            "id": "MIM:611490",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611490",
            "name": "Osteopetrosis, autosomal recessive 4",
            "description": "Osteopetrosis, autosomal recessive 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110944"
    ],
    "unlinked_id_list": []
}