{
    "disease_id": "DOID:0090107",
    "recommended_name": {
        "id": "DOID:0090107",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090107",
        "name": "autosomal dominant hypocalcemia 1",
        "description": "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "DOID:0090107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090107",
            "name": "HYPOC1",
            "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_list": [
        "DOID:0090107"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090107",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090107",
            "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": "0090107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                }
            ]
        },
        {
            "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": "0090107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                }
            ]
        },
        {
            "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": "0090107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48442-1",
            "uniprot_ac": "P48442",
            "uniprot_id": "CASR_RAT",
            "refseq_ac": "NP_001296567",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular calcium-sensing receptor",
                    "type": "recommended"
                },
                {
                    "name": "CaSR",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid cell calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "RaKCaR",
                    "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": "Casr",
                    "type": "synonym"
                },
                {
                    "name": "Gprc2a",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Pcar1",
                    "type": "synonym"
                },
                {
                    "name": "RaKCaR",
                    "type": "synonym"
                }
            ],
            "record_id": "P48442-1",
            "evidence": [
                {
                    "id": "0090107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12074-1",
            "uniprot_ac": "P12074",
            "uniprot_id": "CX6A1_HUMAN",
            "refseq_ac": "NP_004364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX VIa-L",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIA-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome C oxidase subunit VIa homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIA-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6A1",
                    "type": "recommended"
                },
                {
                    "name": "CMTRID",
                    "type": "synonym"
                },
                {
                    "name": "COX6A1",
                    "type": "synonym"
                },
                {
                    "name": "COX6AL",
                    "type": "synonym"
                },
                {
                    "name": "COX6A",
                    "type": "synonym"
                }
            ],
            "record_id": "P12074-1",
            "evidence": [
                {
                    "id": "0090107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090107"
}