{
    "disease_id": "DOID:0110937",
    "recommended_name": {
        "id": "DOID:0110937",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110937",
        "name": "autosomal dominant osteopetrosis 1",
        "description": "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110937",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110937",
            "name": "OPTA1",
            "description": ""
        },
        {
            "id": "DOID:0110937",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110937",
            "name": "autosomal dominant osteopetrosis type 1",
            "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": "MIM:607634",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607634",
            "name": "Osteopetrosis, autosomal dominant 1",
            "description": "Osteopetrosis, autosomal dominant 1"
        }
    ]
}