{
    "disease_id": "DOID:0061150",
    "recommended_name": {
        "id": "DOID:0061150",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061150",
        "name": "familial isolated hypoparathyroidism 1",
        "description": "A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0061150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061150",
            "name": "FIH1",
            "description": ""
        },
        {
            "id": "MONDO:0007796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "name": "hypoparathyroidism, familial isolated 1",
            "description": ""
        },
        {
            "id": "MONDO:0007796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "name": "FIH",
            "description": ""
        },
        {
            "id": "MONDO:0007796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "name": "hypoparathyroidism, familial isolated",
            "description": ""
        },
        {
            "id": "MONDO:0007796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "name": "FIH1",
            "description": ""
        },
        {
            "id": "MONDO:0007796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "name": "hypoparathyroidism, familial isolated 1",
            "description": ""
        },
        {
            "id": "MONDO:0007796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "name": "hypoparathyroidism familial isolated",
            "description": ""
        },
        {
            "id": "MIM:146200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/146200",
            "name": "Hypoparathyroidism, familial isolated, 1",
            "description": "Hypoparathyroidism, familial isolated, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061150"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061150",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061150",
            "categories": []
        },
        {
            "id": "MONDO:0007796",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007796",
            "categories": []
        },
        {
            "id": "MIM:146200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/146200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0061150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01270-1",
            "uniprot_ac": "P01270",
            "uniprot_id": "PTHY_HUMAN",
            "refseq_ac": "NP_000306",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone",
                    "type": "recommended"
                },
                {
                    "name": "PTH",
                    "type": "synonym"
                },
                {
                    "name": "Parathormone",
                    "type": "synonym"
                },
                {
                    "name": "Parathyrin",
                    "type": "synonym"
                },
                {
                    "name": "parathormone",
                    "type": "synonym"
                },
                {
                    "name": "parathyrin",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone 1",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "prepro-PTH",
                    "type": "synonym"
                },
                {
                    "name": "preproparathyroid hormone",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTH",
                    "type": "recommended"
                },
                {
                    "name": "FIH1",
                    "type": "synonym"
                },
                {
                    "name": "PTH1",
                    "type": "synonym"
                },
                {
                    "name": "PTH",
                    "type": "synonym"
                }
            ],
            "record_id": "P01270-1",
            "evidence": [
                {
                    "id": "146200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/146200"
                },
                {
                    "id": "0061150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061150"
                }
            ]
        },
        {
            "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",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone",
                    "type": "recommended"
                },
                {
                    "name": "PTH",
                    "type": "synonym"
                },
                {
                    "name": "Parathyrin",
                    "type": "synonym"
                },
                {
                    "name": "hypothalamic parathyroid hormone",
                    "type": "synonym"
                },
                {
                    "name": "parathyrin",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pth",
                    "type": "recommended"
                },
                {
                    "name": "PTH-(1-84)",
                    "type": "synonym"
                },
                {
                    "name": "Pth1",
                    "type": "synonym"
                },
                {
                    "name": "Pthr1",
                    "type": "synonym"
                },
                {
                    "name": "Pth",
                    "type": "synonym"
                }
            ],
            "record_id": "P04089-1",
            "evidence": [
                {
                    "id": "0061150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061150"
}