{
    "disease_id": "DOID:0050445",
    "recommended_name": {
        "id": "DOID:0050445",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050445",
        "name": "X-linked dominant hypophosphatemic rickets",
        "description": "A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization."
    },
    "synonyms": [
        {
            "id": "DOID:0050445",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050445",
            "name": "Hypophosphatemia, Vitamin D-Resistant Rickets",
            "description": ""
        },
        {
            "id": "DOID:0050445",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050445",
            "name": "Vitamin D-Resistant Rickets, X-Linked",
            "description": ""
        },
        {
            "id": "DOID:0050445",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050445",
            "name": "X-linked hypophosphatemia",
            "description": ""
        },
        {
            "id": "DOID:0050445",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050445",
            "name": "hypophosphatemic rickets X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "X-linked dominant hypophosphatemic rickets",
            "description": "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "HYP",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "X-linked hypophosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "X-linked hereditary hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophophatemic vitamin D-resistant rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemic rickets, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hereditary hypophosphatemic rickets, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "XLHR",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "XLH",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemic rickets X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemia, Vitamin D-resistant rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemic Vitamin D-resistant rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "X-linked hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemic rickets, X-linked dominant; XLHR",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "HPDR",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "rickets, Vitamin D-resistant",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophosphatemic rickets, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "hypophophatemia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010619",
            "name": "Vitamin D-resistant rickets, X-linked",
            "description": ""
        },
        {
            "id": "MIM:307800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/307800",
            "name": "Hypophosphatemic rickets, X-linked dominant",
            "description": "Hypophosphatemic rickets, X-linked dominant"
        }
    ]
}