{
    "disease_id": "DOID:13533",
    "recommended_name": {
        "id": "DOID:13533",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:13533",
        "name": "osteopetrosis",
        "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones."
    },
    "synonyms": [
        {
            "id": "DOID:13533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13533",
            "name": "Albers-Schonberg disease",
            "description": ""
        },
        {
            "id": "DOID:13533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13533",
            "name": "marble bone",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "autosomal dominant osteopetrosis 1",
            "description": "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault."
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "osteopetrosis, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "autosomal dominant osteopetrosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "osteopetrosis, autosomal dominant 1; OPTA1",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "osteopetrosis autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "osteopetrosis (disease) caused by mutation in LRP5",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "OPTA1",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "osteopetrosis, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "LRP5 osteopetrosis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011877",
            "name": "osteopetrosis, autosomal dominant, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis 1",
            "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: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": "autosomal recessive osteopetrosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "Albers-Schonberg disease, autosomal recessive",
            "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": "OPTB1",
            "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": "osteopetrosis, autosomal recessive 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": "osteopetrosis, autosomal recessive 1; OPTB1",
            "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": "osteopetrosis infantile malignant 1",
            "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": "TCIRG1 autosomal recessive malignant osteopetrosis",
            "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": "MIM:607634",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607634",
            "name": "Osteopetrosis, autosomal dominant 1",
            "description": "Osteopetrosis, autosomal dominant 1"
        },
        {
            "id": "MIM:259700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259700",
            "name": "Osteopetrosis, autosomal recessive 1",
            "description": "Osteopetrosis, autosomal recessive 1"
        }
    ]
}