{
    "disease_id": "DOID:0050947",
    "recommended_name": {
        "id": "DOID:0050947",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050947",
        "name": "hereditary hypophosphatemic rickets with hypercalciuria",
        "description": "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain."
    },
    "synonyms": [
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hereditary hypophosphatemic rickets with hypercalciuria",
            "description": "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "HHRH",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypercalciuric hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypophosphatemic hypercalciuric rickets",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypophosphatemic rickets with hypercalciuria",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypophosphatemic rickets with hypercalciuria, hereditary",
            "description": ""
        },
        {
            "id": "MIM:241530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241530",
            "name": "Hereditary hypophosphatemic rickets with hypercalciuria",
            "description": "Hereditary hypophosphatemic rickets with hypercalciuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050947"
    ],
    "unlinked_id_list": []
}