{
    "disease_id": "DOID:0110942", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "marble bones, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "autosomal recessive osteopetrosis type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "Albers-Schonberg disease, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "marble bones autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "osteopetrosis autosomal recessive 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "osteopetrosis, infantile malignant 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "OPTB1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "osteopetrosis, autosomal recessive 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "autosomal recessive osteopetrosis caused by mutation in TCIRG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "osteopetrosis, autosomal recessive 1; OPTB1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "TCIRG1 autosomal recessive osteopetrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "osteopetrosis infantile malignant 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "autosomal recessive Albers-Schonberg disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "TCIRG1 autosomal recessive malignant osteopetrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "infantile malignant osteopetrosis 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009815", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009815", 
            "name": "osteopetrosis, autosomal recessive type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110942", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110942", 
            "name": "OPTB1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110942", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110942", 
            "name": "autosomal recessive Albers-Schonberg disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110942", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110942", 
            "name": "infantile malignant osteopetrosis 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110942", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110942", 
        "name": "autosomal recessive osteopetrosis 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110942#disease-associations", 
            "id": "0110942", 
            "database": "Alliance of Genome Resources"
        }
    ]
}