{
    "disease_id": "DOID:0080884",
    "recommended_name": {
        "id": "DOID:0080884",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080884",
        "name": "vitamin D-dependent rickets type 2A",
        "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q."
    },
    "synonyms": [
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "vitamin D-dependent rickets, type 2A",
            "description": "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia."
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "VDR vitamin D-dependent rickets, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "rickets, vitamin D-resistant, type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "vitamin D dependent rickets 2a",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "vitamin D receptor deficiency rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "vitamin D-dependent rickets, type 2 caused by mutation in VDR",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "vitamin D-dependent rickets, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "vitamin d-dependent rickets type II with alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "VDDR2A",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "generalised resistance to 1,25-dihydroxyvitamin D",
            "description": ""
        },
        {
            "id": "MIM:277440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277440",
            "name": "Rickets vitamin D-dependent 2A",
            "description": "Rickets vitamin D-dependent 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080884"
    ],
    "unlinked_id_list": []
}