{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0080884",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080884",
            "categories": []
        },
        {
            "id": "MONDO:0010186",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010186",
            "categories": []
        },
        {
            "id": "MIM:277440",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277440",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L673-1",
            "uniprot_ac": "Q1L673",
            "uniprot_id": "VDRB_DANRE",
            "refseq_ac": "NP_001153457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor B",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1-B",
                    "type": "synonym"
                },
                {
                    "name": "VDR-B",
                    "type": "synonym"
                },
                {
                    "name": "nr1i1b",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1-B",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor b",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25-dihydroxyvitamin D3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vdrb",
                    "type": "recommended"
                },
                {
                    "name": "NR1I1-B",
                    "type": "synonym"
                },
                {
                    "name": "VDRbeta",
                    "type": "synonym"
                },
                {
                    "name": "gb:dq017633",
                    "type": "synonym"
                },
                {
                    "name": "nr1i1b",
                    "type": "synonym"
                },
                {
                    "name": "vdrb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L673-1",
            "evidence": [
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9PTN2-1",
            "uniprot_ac": "Q9PTN2",
            "uniprot_id": "VDRA_DANRE",
            "refseq_ac": "NP_570994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor A",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "VDR-A",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor a",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vdra",
                    "type": "recommended"
                },
                {
                    "name": "NR1I1-A",
                    "type": "synonym"
                },
                {
                    "name": "VDR-A",
                    "type": "synonym"
                },
                {
                    "name": "VDRalpha",
                    "type": "synonym"
                },
                {
                    "name": "nr1i1a",
                    "type": "synonym"
                },
                {
                    "name": "vdra",
                    "type": "synonym"
                },
                {
                    "name": "vdr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PTN2-1",
            "evidence": [
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48281-1",
            "uniprot_ac": "P48281",
            "uniprot_id": "VDR_MOUSE",
            "refseq_ac": "NP_033530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vdr",
                    "type": "recommended"
                },
                {
                    "name": "Nr1i1",
                    "type": "synonym"
                },
                {
                    "name": "Vdr",
                    "type": "synonym"
                }
            ],
            "record_id": "P48281-1",
            "evidence": [
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11473-1",
            "uniprot_ac": "P11473",
            "uniprot_id": "VDR_HUMAN",
            "refseq_ac": "NP_000367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 163",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor isoform VDRA",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VDR",
                    "type": "recommended"
                },
                {
                    "name": "NR1I1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R163",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                }
            ],
            "record_id": "P11473-1",
            "evidence": [
                {
                    "id": "277440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277440"
                },
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13053-1",
            "uniprot_ac": "P13053",
            "uniprot_id": "VDR_RAT",
            "refseq_ac": "NP_058754",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vdr",
                    "type": "recommended"
                },
                {
                    "name": "Nr1i1",
                    "type": "synonym"
                },
                {
                    "name": "Vdr",
                    "type": "synonym"
                }
            ],
            "record_id": "P13053-1",
            "evidence": [
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24143-1",
            "uniprot_ac": "Q24143",
            "uniprot_id": "HR96_DROME",
            "refseq_ac": "NP_524493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear hormone receptor HR96",
                    "type": "recommended"
                },
                {
                    "name": "CG11783-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hr96-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group J member 1",
                    "type": "synonym"
                },
                {
                    "name": "dHR96",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor-like in 96",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hr96",
                    "type": "recommended"
                },
                {
                    "name": "CG11783",
                    "type": "synonym"
                },
                {
                    "name": "DHR96",
                    "type": "synonym"
                },
                {
                    "name": "Dhr96",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11783",
                    "type": "synonym"
                },
                {
                    "name": "HR96",
                    "type": "synonym"
                },
                {
                    "name": "Hr96",
                    "type": "synonym"
                },
                {
                    "name": "NR1J1",
                    "type": "synonym"
                },
                {
                    "name": "dHR96",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24143-1",
            "evidence": [
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92765-1",
            "uniprot_ac": "Q92765",
            "uniprot_id": "SFRP3_HUMAN",
            "refseq_ac": "NP_001454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted frizzled-related protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Frezzled",
                    "type": "synonym"
                },
                {
                    "name": "Fritz",
                    "type": "synonym"
                },
                {
                    "name": "Frizzled-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FrzB-1",
                    "type": "synonym"
                },
                {
                    "name": "frezzled",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog-related",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sFRP-3",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRZB",
                    "type": "recommended"
                },
                {
                    "name": "FIZ",
                    "type": "synonym"
                },
                {
                    "name": "FRE",
                    "type": "synonym"
                },
                {
                    "name": "FRITZ",
                    "type": "synonym"
                },
                {
                    "name": "FRP-3",
                    "type": "synonym"
                },
                {
                    "name": "FRP",
                    "type": "synonym"
                },
                {
                    "name": "FRZB-1",
                    "type": "synonym"
                },
                {
                    "name": "FRZB-PEN",
                    "type": "synonym"
                },
                {
                    "name": "FRZB1",
                    "type": "synonym"
                },
                {
                    "name": "FRZB",
                    "type": "synonym"
                },
                {
                    "name": "FZRB",
                    "type": "synonym"
                },
                {
                    "name": "OS1",
                    "type": "synonym"
                },
                {
                    "name": "SFRP3",
                    "type": "synonym"
                },
                {
                    "name": "SRFP3",
                    "type": "synonym"
                },
                {
                    "name": "hFIZ",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92765-1",
            "evidence": [
                {
                    "id": "0080884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080884"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080884"
}