{
    "disease_id": "DOID:10609",
    "recommended_name": {
        "id": "DOID:10609",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:10609",
        "name": "rickets",
        "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone."
    },
    "synonyms": [
        {
            "id": "DOID:10609",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10609",
            "name": "active rickets",
            "description": ""
        },
        {
            "id": "DOID:10609",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10609",
            "name": "vitamin D hydroxylation-deficient rickets",
            "description": ""
        },
        {
            "id": "DOID:10609",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10609",
            "name": "vitamin D-dependent rickets",
            "description": ""
        },
        {
            "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": "Vitamin D dependent rickets 2a",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "rickets, hereditary Vitamin D-resistant",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "rickets-alopecia syndrome",
            "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": "VDR vitamin D-dependent rickets, type 2",
            "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": "Vitamin D-dependent rickets, type 2A, with or without alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "VITAMIN D-dependent rickets, type 2A; VDDR2A",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "Pseudovitamin D-deficiency, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "name": "generalized resistance to 1,25-dihydroxyvitamin D",
            "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": "hypocalcemic vitamin D-resistant 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": "Pddr 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": "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor with alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "vitamin D hydroxylation-deficient rickets, type 1B",
            "description": "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets."
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "Vitamin D 25-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "Vitamin D hydroxylation-deficient rickets type 1b",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "vitamin D hydroxylation-deficient rickets, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "VDDR1B",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "Vitamin D-dependent rickets, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "Vitam D hydroxylation-deficient rickets type 1b",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "25-Hydroxyvitamin D3 deficiency, selective",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "CYP2R1 vitamin D-dependent rickets, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "name": "VITAMIN D hydroxylation-deficient rickets, type 1B; VDDR1B",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "vitamin D-dependent rickets, type 2B",
            "description": "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations."
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "VDDR2B",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor without alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "VITAMIN D-dependent rickets, type 2B, with NORMAL VITAMIN D receptor; VDDR2B",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "vitamin D-dependent rickets type II without alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "Vitamin D resistant rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "Vitamin D dependent rickets 2b",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "Vitamin D receptor signaling defect rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010931",
            "name": "VITAMIN D-dependent rickets, type 2B, with NORMAL VITAMIN D receptor",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "vitamin D-dependent rickets, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "VDDR1A",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "Vitamin D-dependent rickets, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "Vitamin D dependency, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "VITAMIN D hydroxylation-deficient rickets, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "25-hydroxycholecalciferol-1-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "Pseudovitamin D-deficiency rickets, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "Pddr 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "1-Alpha-Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020723",
            "name": "VITAMIN D hydroxylation-deficient rickets, type 1A; VDDR1A",
            "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"
        },
        {
            "id": "MIM:600081",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600081",
            "name": "Rickets vitamin D-dependent 1B",
            "description": "Rickets vitamin D-dependent 1B"
        },
        {
            "id": "MIM:264700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/264700",
            "name": "Rickets vitamin D-dependent 1A",
            "description": "Rickets vitamin D-dependent 1A"
        }
    ]
}