{
    "disease_id": "DOID:0061135",
    "recommended_name": {
        "id": "DOID:0061135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061135",
        "name": "infantile hypercalcemia 2",
        "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "hypercalcemia, infantile, 2",
            "description": "Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene."
        },
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "HCINF2",
            "description": ""
        },
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "SLC34A1 autosomal recessive infantile hypercalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1",
            "description": ""
        },
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "hypercalcemia, infantile 2",
            "description": ""
        },
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "hypercalcemia, infantile, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014851",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "name": "hypercalcemia, infantile, type 2",
            "description": ""
        },
        {
            "id": "MIM:616963",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616963",
            "name": "Hypercalcemia, infantile, 2",
            "description": "Hypercalcemia, infantile, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061135"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061135",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061135",
            "categories": []
        },
        {
            "id": "MONDO:0014851",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014851",
            "categories": []
        },
        {
            "id": "MIM:616963",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616963",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0061135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061135"
                }
            ]
        },
        {
            "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": "0061135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061135"
                }
            ]
        },
        {
            "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": "0061135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061135"
                }
            ]
        },
        {
            "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": "616963",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616963"
                },
                {
                    "id": "0061135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061135"
                }
            ]
        },
        {
            "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": "0061135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061135"
                }
            ]
        },
        {
            "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": "0061135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061135"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061135"
}