{
    "disease_id": "DOID:0050947",
    "recommended_name": {
        "id": "DOID:0050947",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050947",
        "name": "hereditary hypophosphatemic rickets with hypercalciuria",
        "description": "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain."
    },
    "synonyms": [
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hereditary hypophosphatemic rickets with hypercalciuria",
            "description": "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "HHRH",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypercalciuric hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypophosphatemic hypercalciuric rickets",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypophosphatemic rickets with hypercalciuria",
            "description": ""
        },
        {
            "id": "MONDO:0009431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "name": "hypophosphatemic rickets with hypercalciuria, hereditary",
            "description": ""
        },
        {
            "id": "MIM:241530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241530",
            "name": "Hereditary hypophosphatemic rickets with hypercalciuria",
            "description": "Hereditary hypophosphatemic rickets with hypercalciuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050947"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050947",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050947",
            "categories": []
        },
        {
            "id": "MONDO:0009431",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009431",
            "categories": []
        },
        {
            "id": "MIM:241530",
            "database": "MIM",
            "url": "https://www.omim.org/entry/241530",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PDN7-1",
            "uniprot_ac": "A0A8M9PDN7",
            "uniprot_id": "A0A8M9PDN7_DANRE",
            "refseq_ac": "XP_021324923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc34a1b",
                    "type": "recommended"
                },
                {
                    "name": "slc34a1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PDN7-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F8W579-1",
            "uniprot_ac": "F8W579",
            "uniprot_id": "F8W579_DANRE",
            "refseq_ac": "XP_002664304",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc34a1a",
                    "type": "recommended"
                },
                {
                    "name": "slc34a1a",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W579-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60825-1",
            "uniprot_ac": "Q60825",
            "uniprot_id": "NPT2A_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-7",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc34a1",
                    "type": "recommended"
                },
                {
                    "name": "Npt2",
                    "type": "synonym"
                },
                {
                    "name": "Slc17a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60825-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80SU6-1",
            "uniprot_ac": "Q80SU6",
            "uniprot_id": "NPT2C_MOUSE",
            "refseq_ac": "NP_543130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2C",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2c",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 3",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate cotransporter IIC",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "type IIc Na+/Pi-cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "type IIc NaPi-cotransporter-v1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc34a3",
                    "type": "recommended"
                },
                {
                    "name": "Npt2c-v1",
                    "type": "synonym"
                },
                {
                    "name": "Npt2c",
                    "type": "synonym"
                },
                {
                    "name": "NptIIc",
                    "type": "synonym"
                },
                {
                    "name": "Slc34a3",
                    "type": "synonym"
                },
                {
                    "name": "naPi-2c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80SU6-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N130-1",
            "uniprot_ac": "Q8N130",
            "uniprot_id": "NPT2C_HUMAN",
            "refseq_ac": "NP_001170787",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2C",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2c",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/inorganic phosphate cotransporter IIC",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 3",
                    "type": "synonym"
                },
                {
                    "name": "naPi-2c",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "sodium/inorganic phosphate cotransporter IIC",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (sodium phosphate), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (type II sodium/phosphate cotransporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "type IIc Na+/Pi cotransporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC34A3",
                    "type": "recommended"
                },
                {
                    "name": "HHRH",
                    "type": "synonym"
                },
                {
                    "name": "NPT2C",
                    "type": "synonym"
                },
                {
                    "name": "NPTIIC",
                    "type": "synonym"
                },
                {
                    "name": "NPTIIc",
                    "type": "synonym"
                },
                {
                    "name": "SLC34A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N130-1",
            "evidence": [
                {
                    "id": "241530",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/241530"
                },
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06496-1",
            "uniprot_ac": "Q06496",
            "uniprot_id": "NPT2A_RAT",
            "refseq_ac": "NP_037162",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 1",
                    "type": "synonym"
                },
                {
                    "name": "naPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate co-transporter type II",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (sodium/hydrogen exchanger) member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (sodium phosphate), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (type II sodium/phosphate cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc34a1",
                    "type": "recommended"
                },
                {
                    "name": "NaPi-2",
                    "type": "synonym"
                },
                {
                    "name": "NaPi2A",
                    "type": "synonym"
                },
                {
                    "name": "Npt2",
                    "type": "synonym"
                },
                {
                    "name": "Slc17a2",
                    "type": "synonym"
                },
                {
                    "name": "Slc34a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06496-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4R8-1",
            "uniprot_ac": "Q8K4R8",
            "uniprot_id": "NPT2C_RAT",
            "refseq_ac": "NP_647554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2C",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Na+/Pi-cotransporter type IIc",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2c",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 3",
                    "type": "synonym"
                },
                {
                    "name": "naPi-2c",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate transport protein 2C",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate cotransporter 2C",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (sodium phosphate), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (type II sodium/phosphate contransporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (type II sodium/phosphate cotransporter), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc34a3",
                    "type": "recommended"
                },
                {
                    "name": "Slc34a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4R8-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43915-1",
            "uniprot_ac": "O43915",
            "uniprot_id": "VEGFD_HUMAN",
            "refseq_ac": "NP_004460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor D",
                    "type": "recommended"
                },
                {
                    "name": "FIGF",
                    "type": "synonym"
                },
                {
                    "name": "VEGF-D",
                    "type": "synonym"
                },
                {
                    "name": "c-Fos-induced growth factor",
                    "type": "synonym"
                },
                {
                    "name": "c-fos induced growth factor (vascular endothelial growth factor D)",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor D preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VEGFD",
                    "type": "recommended"
                },
                {
                    "name": "FIGF",
                    "type": "synonym"
                },
                {
                    "name": "VEGF-D",
                    "type": "synonym"
                },
                {
                    "name": "VEGFD",
                    "type": "synonym"
                }
            ],
            "record_id": "O43915-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06495-1",
            "uniprot_ac": "Q06495",
            "uniprot_id": "NPT2A_HUMAN",
            "refseq_ac": "NP_001161051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Na+-phosphate cotransporter type II",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-3",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 1",
                    "type": "synonym"
                },
                {
                    "name": "naPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "renal sodium-dependent phosphate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate co-transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (sodium phosphate), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (sodium phosphate), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (type II sodium/phosphate cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC34A1",
                    "type": "recommended"
                },
                {
                    "name": "FRTS2",
                    "type": "synonym"
                },
                {
                    "name": "HCINF2",
                    "type": "synonym"
                },
                {
                    "name": "NAPI-3",
                    "type": "synonym"
                },
                {
                    "name": "NPHLOP1",
                    "type": "synonym"
                },
                {
                    "name": "NPT2",
                    "type": "synonym"
                },
                {
                    "name": "NPTIIa",
                    "type": "synonym"
                },
                {
                    "name": "SLC11",
                    "type": "synonym"
                },
                {
                    "name": "SLC17A2",
                    "type": "synonym"
                },
                {
                    "name": "SLC34A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06495-1",
            "evidence": [
                {
                    "id": "0050947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050947"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050947"
}