{
    "disease_id": "DOID:0060849",
    "recommended_name": {
        "id": "DOID:0060849",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060849",
        "name": "osteoporosis-pseudoglioma syndrome",
        "description": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia  that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060849",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060849",
            "name": "OPPG",
            "description": ""
        },
        {
            "id": "DOID:0060849",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060849",
            "name": "ocular form of osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis-pseudoglioma syndrome",
            "description": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures."
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "OPPG",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis pseudoglioma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "Ops",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "ocular form of osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "pseudoglioma with bone fragility",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis-pseudoglioma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteogenesis imperfecta ocular form",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis-pseudoglioma syndrome; OPPG",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteogenesis imperfecta, ocular form",
            "description": ""
        },
        {
            "id": "MIM:259770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259770",
            "name": "Osteoporosis-pseudoglioma syndrome",
            "description": "Osteoporosis-pseudoglioma syndrome"
        }
    ]
}