{
    "disease_id": "DOID:0061151",
    "recommended_name": {
        "id": "DOID:0061151",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061151",
        "name": "familial isolated hypoparathyroidism 2",
        "description": "A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0061151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061151",
            "name": "FIH2",
            "description": ""
        },
        {
            "id": "MONDO:0020798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020798",
            "name": "hypoparathyroidism, familial isolated, 2",
            "description": ""
        },
        {
            "id": "MONDO:0020798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020798",
            "name": "FIH2",
            "description": ""
        },
        {
            "id": "MONDO:0020798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020798",
            "name": "hypoparathyroidism, familial isolated 2",
            "description": ""
        },
        {
            "id": "MONDO:0020798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020798",
            "name": "hypoparathyroidism, familial isolated, 2",
            "description": ""
        },
        {
            "id": "MIM:618883",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618883",
            "name": "Hypoparathyroidism, familial isolated, 2",
            "description": "Hypoparathyroidism, familial isolated, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061151"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061151",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061151",
            "categories": []
        },
        {
            "id": "MONDO:0020798",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020798",
            "categories": []
        },
        {
            "id": "MIM:618883",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618883",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09102-1",
            "uniprot_ac": "O09102",
            "uniprot_id": "GCM2_MOUSE",
            "refseq_ac": "NP_032130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chorion-specific transcription factor GCMb",
                    "type": "recommended"
                },
                {
                    "name": "GCM motif protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Glial cells missing homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "chorion-specific transcription factor GCMb",
                    "type": "synonym"
                },
                {
                    "name": "mGCMb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcm2",
                    "type": "recommended"
                },
                {
                    "name": "Gcm-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Gcm1-rs2",
                    "type": "synonym"
                },
                {
                    "name": "Gcm1",
                    "type": "synonym"
                },
                {
                    "name": "Gcm2",
                    "type": "synonym"
                },
                {
                    "name": "Gcmb",
                    "type": "synonym"
                }
            ],
            "record_id": "O09102-1",
            "evidence": [
                {
                    "id": "0061151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75603-1",
            "uniprot_ac": "O75603",
            "uniprot_id": "GCM2_HUMAN",
            "refseq_ac": "NP_004743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chorion-specific transcription factor GCMb",
                    "type": "recommended"
                },
                {
                    "name": "GCM motif protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Glial cells missing homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "chorion-specific transcription factor GCMb",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing 2",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing homolog b",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "glide/gcm protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hGCMb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCM2",
                    "type": "recommended"
                },
                {
                    "name": "FIH2",
                    "type": "synonym"
                },
                {
                    "name": "GCM2",
                    "type": "synonym"
                },
                {
                    "name": "GCMB",
                    "type": "synonym"
                },
                {
                    "name": "HRPT4",
                    "type": "synonym"
                },
                {
                    "name": "hGCMb",
                    "type": "synonym"
                }
            ],
            "record_id": "O75603-1",
            "evidence": [
                {
                    "id": "618883",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618883"
                },
                {
                    "id": "0061151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXW4-1",
            "uniprot_ac": "D3ZXW4",
            "uniprot_id": "D3ZXW4_RAT",
            "refseq_ac": "NP_001099575",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glial cells missing transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "chorion-specific transcription factor GCMb",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcm2",
                    "type": "recommended"
                },
                {
                    "name": "Gcm2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXW4-1",
            "evidence": [
                {
                    "id": "0061151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27403-1",
            "uniprot_ac": "Q27403",
            "uniprot_id": "GCM_DROME",
            "refseq_ac": "NP_001260292",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor glial cells missing",
                    "type": "recommended"
                },
                {
                    "name": "CG12245-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein glide",
                    "type": "synonym"
                },
                {
                    "name": "gcm-PB",
                    "type": "synonym"
                },
                {
                    "name": "glia cells missing",
                    "type": "synonym"
                },
                {
                    "name": "glial cell deficient",
                    "type": "synonym"
                },
                {
                    "name": "glial cell missing",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "glial cells-missing",
                    "type": "synonym"
                },
                {
                    "name": "glide glide2",
                    "type": "synonym"
                },
                {
                    "name": "glide",
                    "type": "synonym"
                },
                {
                    "name": "upper class chordotonals",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gcm",
                    "type": "recommended"
                },
                {
                    "name": "CG12245",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12245",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12245",
                    "type": "synonym"
                },
                {
                    "name": "GCM1",
                    "type": "synonym"
                },
                {
                    "name": "GCMa",
                    "type": "synonym"
                },
                {
                    "name": "GCM",
                    "type": "synonym"
                },
                {
                    "name": "Gcm",
                    "type": "synonym"
                },
                {
                    "name": "N7-4",
                    "type": "synonym"
                },
                {
                    "name": "gcm",
                    "type": "synonym"
                },
                {
                    "name": "glide/gcm",
                    "type": "synonym"
                },
                {
                    "name": "glide",
                    "type": "synonym"
                },
                {
                    "name": "l(2)N7-4",
                    "type": "synonym"
                },
                {
                    "name": "ucc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27403-1",
            "evidence": [
                {
                    "id": "0061151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLA2-1",
            "uniprot_ac": "Q9VLA2",
            "uniprot_id": "GCM2_DROME",
            "refseq_ac": "NP_609302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor glial cells missing 2",
                    "type": "recommended"
                },
                {
                    "name": "CG3858-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein glide-2",
                    "type": "synonym"
                },
                {
                    "name": "gcm2-PA",
                    "type": "synonym"
                },
                {
                    "name": "gcm2",
                    "type": "synonym"
                },
                {
                    "name": "glial cells missing 2",
                    "type": "synonym"
                },
                {
                    "name": "glide glide2",
                    "type": "synonym"
                },
                {
                    "name": "glide2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gcm2",
                    "type": "recommended"
                },
                {
                    "name": "CG3858",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3858",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0019809",
                    "type": "synonym"
                },
                {
                    "name": "GCM-2",
                    "type": "synonym"
                },
                {
                    "name": "Gcm2",
                    "type": "synonym"
                },
                {
                    "name": "dGCM2",
                    "type": "synonym"
                },
                {
                    "name": "gcm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLA2-1",
            "evidence": [
                {
                    "id": "0061151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061151"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061151"
}