{
    "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": "Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly,ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may includefractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures ,and life-threatening pancytopenia . In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes . Inheritance can be autosomal recessive , autosomal dominant , or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. adult osteopetrosis requires no treatment by itself, but complications may require intervention."
        },
        {
            "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": "osteopetrosis, autosomal recessive 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 infantile malignant 2",
            "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": "osteopetrosis, autosomal recessive 4",
            "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": "osteopetrosis, infantile malignant 2",
            "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": "CLCN7 autosomal recessive malignant osteopetrosis",
            "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, autosomal recessive 4; OPTB4",
            "description": ""
        },
        {
            "id": "MONDO:0012676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012676",
            "name": "autosomal recessive osteopetrosis type 4",
            "description": ""
        },
        {
            "id": "MIM:611490",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611490",
            "name": "Osteopetrosis, autosomal recessive 4",
            "description": "Osteopetrosis, autosomal recessive 4"
        }
    ]
}