{
    "disease_id": "DOID:0110944", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "infantile malignant osteopetrosis 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "osteopetrosis infantile malignant 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "osteopetrosis, autosomal recessive 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "CLCN7 autosomal recessive osteopetrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "osteopetrosis, infantile malignant 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "OPTB4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "CLCN7 autosomal recessive malignant osteopetrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
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        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "osteopetrosis, autosomal recessive 4; OPTB4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012676", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012676", 
            "name": "autosomal recessive osteopetrosis type 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110944", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110944", 
            "name": "OPTB4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110944", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110944", 
            "name": "infantile malignant osteopetrosis 2"
        }, 
        {
            "url": "https://www.omim.org/entry/611490", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:611490", 
            "name": "Osteopetrosis, autosomal recessive 4"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110944", 
        "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.", 
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        "id": "DOID:0110944", 
        "name": "autosomal recessive osteopetrosis 4"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/611490", 
            "id": "611490", 
            "database": "MIM"
        }
    ]
}