{
    "disease_id": "DOID:0090109",
    "recommended_name": {
        "id": "DOID:0090109",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090109",
        "name": "autosomal dominant hypocalcemia",
        "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone."
    },
    "synonyms": [
        {
            "id": "DOID:0090109",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090109",
            "name": "HYPOC",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "autosomal dominant hypocalcemia 1",
            "description": "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene."
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "hypocalcemia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "CASR autosomal dominant hypocalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "HYPOC1",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "autosomal dominant hypocalcemia caused by mutation in CASR",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "autosomal dominant hypocalcemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "hypocalcemia, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "hypocalcemia, autosomal dominant, with Bartter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "name": "hypocalcemia, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MIM:601198",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601198",
            "name": "Hypocalcemia, autosomal dominant 1",
            "description": "Hypocalcemia, autosomal dominant 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0090107",
            "label": "autosomal dominant hypocalcemia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090108",
            "label": "autosomal dominant hypocalcemia 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090109",
        "DOID:0090108",
        "DOID:0090107"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090109",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090109",
            "categories": []
        },
        {
            "id": "MONDO:0011013",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011013",
            "categories": []
        },
        {
            "id": "MIM:601198",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601198",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P4E9-1",
            "uniprot_ac": "A0A8M1P4E9",
            "uniprot_id": "A0A8M1P4E9_DANRE",
            "refseq_ac": "NP_001338594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular calcium-sensing receptor",
                    "type": "recommended"
                },
                {
                    "name": "extracellular calcium-sensing receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000001046",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "casr",
                    "type": "recommended"
                },
                {
                    "name": "casrl",
                    "type": "synonym"
                },
                {
                    "name": "casr",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P4E9-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QY96-1",
            "uniprot_ac": "Q9QY96",
            "uniprot_id": "CASR_MOUSE",
            "refseq_ac": "NP_038831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular calcium-sensing receptor",
                    "type": "recommended"
                },
                {
                    "name": "CaSR",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor, family C, group 2, member A",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid cell calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "cation sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid cell calcium-sensing receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casr",
                    "type": "recommended"
                },
                {
                    "name": "CaR",
                    "type": "synonym"
                },
                {
                    "name": "Casr",
                    "type": "synonym"
                },
                {
                    "name": "Gprc2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY96-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63277-4",
            "uniprot_ac": "P63277",
            "uniprot_id": "AMELX_MOUSE",
            "refseq_ac": "NP_001075447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelogenin, X isoform",
                    "type": "recommended"
                },
                {
                    "name": "LRAP",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich amelogenin peptide",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin, X isoform isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "enamel matrix protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich amelogenin peptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amelx",
                    "type": "recommended"
                },
                {
                    "name": "ALGN",
                    "type": "synonym"
                },
                {
                    "name": "AMGL",
                    "type": "synonym"
                },
                {
                    "name": "AMGX",
                    "type": "synonym"
                },
                {
                    "name": "Amelx",
                    "type": "synonym"
                },
                {
                    "name": "Amel",
                    "type": "synonym"
                },
                {
                    "name": "Amg",
                    "type": "synonym"
                },
                {
                    "name": "LRAP",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc888",
                    "type": "synonym"
                }
            ],
            "record_id": "P63277-4",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54615-1",
            "uniprot_ac": "P54615",
            "uniprot_id": "OSTR_MOUSE",
            "refseq_ac": "NP_001292377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteocalcin-related protein",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "OC-X",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamate protein, related sequence 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "nephrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-related protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bglap3",
                    "type": "recommended"
                },
                {
                    "name": "Bglap-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Bglap3",
                    "type": "synonym"
                },
                {
                    "name": "OC-X",
                    "type": "synonym"
                },
                {
                    "name": "ORG",
                    "type": "synonym"
                },
                {
                    "name": "mOC-X",
                    "type": "synonym"
                }
            ],
            "record_id": "P54615-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86547-1",
            "uniprot_ac": "P86547",
            "uniprot_id": "OSTC2_MOUSE",
            "refseq_ac": "NP_001027469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteocalcin-2",
                    "type": "recommended"
                },
                {
                    "name": "BGP2",
                    "type": "synonym"
                },
                {
                    "name": "Bone Gla protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "OG2",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla protein 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bglap2",
                    "type": "recommended"
                },
                {
                    "name": "BGP2",
                    "type": "synonym"
                },
                {
                    "name": "Bglap1",
                    "type": "synonym"
                },
                {
                    "name": "Bglap2",
                    "type": "synonym"
                },
                {
                    "name": "Bgp",
                    "type": "synonym"
                },
                {
                    "name": "Og2",
                    "type": "synonym"
                },
                {
                    "name": "mOC-B",
                    "type": "synonym"
                }
            ],
            "record_id": "P86547-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0L6-1",
            "uniprot_ac": "Q9Z0L6",
            "uniprot_id": "PTHY_MOUSE",
            "refseq_ac": "NP_065648",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone",
                    "type": "recommended"
                },
                {
                    "name": "PTH",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pth",
                    "type": "recommended"
                },
                {
                    "name": "Pthp",
                    "type": "synonym"
                },
                {
                    "name": "Pth",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0L6-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86546-1",
            "uniprot_ac": "P86546",
            "uniprot_id": "OSTCN_MOUSE",
            "refseq_ac": "NP_031567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteocalcin",
                    "type": "recommended"
                },
                {
                    "name": "BGP",
                    "type": "synonym"
                },
                {
                    "name": "Bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "OG1",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma carboxyglutamate protein 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bglap",
                    "type": "recommended"
                },
                {
                    "name": "BGP",
                    "type": "synonym"
                },
                {
                    "name": "Bglap1",
                    "type": "synonym"
                },
                {
                    "name": "Bglap",
                    "type": "synonym"
                },
                {
                    "name": "OC",
                    "type": "synonym"
                },
                {
                    "name": "OG1",
                    "type": "synonym"
                },
                {
                    "name": "Ocn",
                    "type": "synonym"
                },
                {
                    "name": "mOC-A",
                    "type": "synonym"
                }
            ],
            "record_id": "P86546-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41180-1",
            "uniprot_ac": "P41180",
            "uniprot_id": "CASR_HUMAN",
            "refseq_ac": "NP_001171536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular calcium-sensing receptor",
                    "type": "recommended"
                },
                {
                    "name": "CaR",
                    "type": "synonym"
                },
                {
                    "name": "CaSR",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid cell calcium-sensing receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "hCasR",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid Ca(2+)-sensing receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid cell calcium-sensing receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASR",
                    "type": "recommended"
                },
                {
                    "name": "CAR",
                    "type": "synonym"
                },
                {
                    "name": "CASR",
                    "type": "synonym"
                },
                {
                    "name": "EIG8",
                    "type": "synonym"
                },
                {
                    "name": "FHH",
                    "type": "synonym"
                },
                {
                    "name": "FIH",
                    "type": "synonym"
                },
                {
                    "name": "GPRC2A",
                    "type": "synonym"
                },
                {
                    "name": "HHC1",
                    "type": "synonym"
                },
                {
                    "name": "HHC",
                    "type": "synonym"
                },
                {
                    "name": "HYPOC1",
                    "type": "synonym"
                },
                {
                    "name": "NSHPT",
                    "type": "synonym"
                },
                {
                    "name": "PCAR1",
                    "type": "synonym"
                },
                {
                    "name": "hCasR",
                    "type": "synonym"
                }
            ],
            "record_id": "P41180-1",
            "evidence": [
                {
                    "id": "601198",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601198"
                },
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04640-1",
            "uniprot_ac": "P04640",
            "uniprot_id": "OSTCN_RAT",
            "refseq_ac": "NP_038200",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteocalcin",
                    "type": "recommended"
                },
                {
                    "name": "BGP",
                    "type": "synonym"
                },
                {
                    "name": "Bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla-protein",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamate (gla) protein (osteocalcin)",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamate protein 2",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamic acid (Gla) protein (osteocalcin)",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bglap",
                    "type": "recommended"
                },
                {
                    "name": "Bglap2",
                    "type": "synonym"
                },
                {
                    "name": "Bglap",
                    "type": "synonym"
                },
                {
                    "name": "Bgpra",
                    "type": "synonym"
                },
                {
                    "name": "Bgpr",
                    "type": "synonym"
                },
                {
                    "name": "Bgp",
                    "type": "synonym"
                }
            ],
            "record_id": "P04640-1",
            "evidence": [
                {
                    "id": "0090109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04089-1",
            "uniprot_ac": "P04089",
            "uniprot_id": "PTHY_RAT",
            "refseq_ac": "NP_058740",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090109"
}