{
    "disease_id": "DOID:0050948",
    "recommended_name": {
        "id": "DOID:0050948",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050948",
        "name": "autosomal dominant hypophosphatemic rickets",
        "description": "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance."
    },
    "synonyms": [
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "autosomal dominant hypophosphatemic rickets",
            "description": "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."
        },
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "ADHR",
            "description": ""
        },
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "autosomal dominant hereditary hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "autosomal dominant hypophosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "autosomal dominant hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "hereditary hypophosphatemic rickets, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "name": "hypophosphatemic rickets, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:193100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193100",
            "name": "Hypophosphatemic rickets, autosomal dominant",
            "description": "Hypophosphatemic rickets, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050948"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050948",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050948",
            "categories": []
        },
        {
            "id": "MONDO:0008660",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008660",
            "categories": []
        },
        {
            "id": "MIM:193100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9EPC2-1",
            "uniprot_ac": "Q9EPC2",
            "uniprot_id": "FGF23_MOUSE",
            "refseq_ac": "NP_073148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 23",
                    "type": "recommended"
                },
                {
                    "name": "FGF-23",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 23 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf23",
                    "type": "recommended"
                },
                {
                    "name": "Fgf23",
                    "type": "synonym"
                },
                {
                    "name": "Fgf8b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPC2-1",
            "evidence": [
                {
                    "id": "0050948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZV9-1",
            "uniprot_ac": "Q9GZV9",
            "uniprot_id": "FGF23_HUMAN",
            "refseq_ac": "NP_065689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 23",
                    "type": "recommended"
                },
                {
                    "name": "FGF-23",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatonin",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-derived hypophosphatemia-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 23 precursor",
                    "type": "synonym"
                },
                {
                    "name": "phosphatonin",
                    "type": "synonym"
                },
                {
                    "name": "tumor-derived hypophosphatemia inducing factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF23",
                    "type": "recommended"
                },
                {
                    "name": "ADHR",
                    "type": "synonym"
                },
                {
                    "name": "FGF23",
                    "type": "synonym"
                },
                {
                    "name": "FGFN",
                    "type": "synonym"
                },
                {
                    "name": "HFTC2",
                    "type": "synonym"
                },
                {
                    "name": "HPDR2",
                    "type": "synonym"
                },
                {
                    "name": "HYPF",
                    "type": "synonym"
                },
                {
                    "name": "PHPTC",
                    "type": "synonym"
                },
                {
                    "name": "PRO9828",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZV9-1",
            "evidence": [
                {
                    "id": "193100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193100"
                },
                {
                    "id": "0050948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VI82-1",
            "uniprot_ac": "Q8VI82",
            "uniprot_id": "FGF23_RAT",
            "refseq_ac": "NP_570110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 23",
                    "type": "recommended"
                },
                {
                    "name": "FGF-23",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 23 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 8b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf23",
                    "type": "recommended"
                },
                {
                    "name": "Fgf23",
                    "type": "synonym"
                },
                {
                    "name": "Fgf8b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VI82-1",
            "evidence": [
                {
                    "id": "0050948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8D0-1",
            "uniprot_ac": "G3V8D0",
            "uniprot_id": "G3V8D0_RAT",
            "refseq_ac": "NP_037161",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GT3-synthase",
                    "type": "synonym"
                },
                {
                    "name": "ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "Sialyltransferase 8 (GT3 alpha 2,8-sialyltransferase) C",
                    "type": "synonym"
                },
                {
                    "name": "Sialyltransferase 8 (GT3 alpha 28-sialyltransferase) C",
                    "type": "synonym"
                },
                {
                    "name": "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "sialyltransferase 8 C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "St8sia3",
                    "type": "recommended"
                },
                {
                    "name": "Siat8c",
                    "type": "synonym"
                },
                {
                    "name": "St8sia3",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8D0-1",
            "evidence": [
                {
                    "id": "0050948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050948"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050948"
}