{
    "disease_id": "DOID:0080887",
    "recommended_name": {
        "id": "DOID:0080887",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080887",
        "name": "vitamin D-dependent rickets type 1B",
        "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "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": "CYP2R1 vitamin D-dependent rickets, type 1",
            "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": "rickets due to defect in vitamin D 25-hydroxylation deficiency",
            "description": ""
        },
        {
            "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": "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": "VDDR1B",
            "description": ""
        },
        {
            "id": "MIM:600081",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600081",
            "name": "Rickets vitamin D-dependent 1B",
            "description": "Rickets vitamin D-dependent 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080887"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080887",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080887",
            "categories": []
        },
        {
            "id": "MONDO:0010810",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010810",
            "categories": []
        },
        {
            "id": "MIM:600081",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600081",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6P2A1-1",
            "uniprot_ac": "F6P2A1",
            "uniprot_id": "F6P2A1_DANRE",
            "refseq_ac": "NP_001373291",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D 25-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.24",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 2R1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D 25-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyp2r1",
                    "type": "recommended"
                },
                {
                    "name": "cyp2r1",
                    "type": "synonym"
                }
            ],
            "record_id": "F6P2A1-1",
            "evidence": [
                {
                    "id": "0080887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VVW9-1",
            "uniprot_ac": "Q6VVW9",
            "uniprot_id": "CP2R1_MOUSE",
            "refseq_ac": "NP_796356",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D 25-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.24",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 2R1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 2r1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D 25-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2r1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp2r1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VVW9-1",
            "evidence": [
                {
                    "id": "0080887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VVX0-1",
            "uniprot_ac": "Q6VVX0",
            "uniprot_id": "CP2R1_HUMAN",
            "refseq_ac": "NP_078790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D 25-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.24",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 2R1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2R1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, R1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily R, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D 25-hydroxylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D 25-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP2R1",
                    "type": "recommended"
                },
                {
                    "name": "CYP2R1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VVX0-1",
            "evidence": [
                {
                    "id": "600081",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600081"
                },
                {
                    "id": "0080887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FAJ1-1",
            "uniprot_ac": "F7FAJ1",
            "uniprot_id": "F7FAJ1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D 25-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.24",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 2R1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2r1",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FAJ1-1",
            "evidence": [
                {
                    "id": "0080887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080887"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95078-1",
            "uniprot_ac": "Q95078",
            "uniprot_id": "CP18A_DROME",
            "refseq_ac": "NP_523403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 18a1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6816-PB",
                    "type": "synonym"
                },
                {
                    "name": "CYPXVIIIA1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18a1-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 17C",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 18a1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-18a1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp18a1",
                    "type": "recommended"
                },
                {
                    "name": "181H6T",
                    "type": "synonym"
                },
                {
                    "name": "18a1",
                    "type": "synonym"
                },
                {
                    "name": "26-hyd",
                    "type": "synonym"
                },
                {
                    "name": "CG6816",
                    "type": "synonym"
                },
                {
                    "name": "CT20826",
                    "type": "synonym"
                },
                {
                    "name": "CYP18A1-Dm",
                    "type": "synonym"
                },
                {
                    "name": "CYP18A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP18",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18A1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18a1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-P450-17C",
                    "type": "synonym"
                },
                {
                    "name": "CytP450",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6816",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:181H6T",
                    "type": "synonym"
                },
                {
                    "name": "Eig17-1",
                    "type": "synonym"
                },
                {
                    "name": "P-450",
                    "type": "synonym"
                },
                {
                    "name": "P450",
                    "type": "synonym"
                },
                {
                    "name": "cyp18a1",
                    "type": "synonym"
                },
                {
                    "name": "cyp18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95078-1",
            "evidence": [
                {
                    "id": "0080887",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080887"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080887"
}