{
    "disease_id": "DOID:0060878",
    "recommended_name": {
        "id": "DOID:0060878",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060878",
        "name": "hypoparathyroidism-deafness-renal disease syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14."
    },
    "synonyms": [
        {
            "id": "DOID:0060878",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060878",
            "name": "Barakat syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060878",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060878",
            "name": "HDR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060878",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060878",
            "name": "hypoparathyroidism, sensorineural deafness, and renal disease",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "hypoparathyroidism-deafness-renal disease syndrome",
            "description": "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease."
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "Barakat Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "Barakat syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "HDR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "hypoparathyroidism, deafness, and renal anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "hypoparathyroidism, sensorineural deafness, and renal disease",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "hypoparathyroidism-deafness-renal disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "HDR",
            "description": ""
        },
        {
            "id": "MONDO:0007797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "name": "hypoparathyroidism, sensorineural deafness, and renal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:146255",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/146255",
            "name": "Hypoparathyroidism, sensorineural deafness, and renal disease",
            "description": "Hypoparathyroidism, sensorineural deafness, and renal disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060878"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060878",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060878",
            "categories": []
        },
        {
            "id": "MONDO:0007797",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007797",
            "categories": []
        },
        {
            "id": "MIM:146255",
            "database": "MIM",
            "url": "https://www.omim.org/entry/146255",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91428-1",
            "uniprot_ac": "Q91428",
            "uniprot_id": "GATA3_DANRE",
            "refseq_ac": "NP_571286",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-3",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gata3",
                    "type": "recommended"
                },
                {
                    "name": "cb550",
                    "type": "synonym"
                },
                {
                    "name": "gata3",
                    "type": "synonym"
                },
                {
                    "name": "gta3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91428-1",
            "evidence": [
                {
                    "id": "0060878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23772-1",
            "uniprot_ac": "P23772",
            "uniprot_id": "GATA3_MOUSE",
            "refseq_ac": "NP_032117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trans-acting T-cell-specific transcription factor GATA-3",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 3",
                    "type": "synonym"
                },
                {
                    "name": "trans-acting T-cell-specific transcription factor GATA-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "trans-acting T-cell-specific transcription factor GATA-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata3",
                    "type": "recommended"
                },
                {
                    "name": "Gata-3",
                    "type": "synonym"
                },
                {
                    "name": "Gata3",
                    "type": "synonym"
                },
                {
                    "name": "jal",
                    "type": "synonym"
                }
            ],
            "record_id": "P23772-1",
            "evidence": [
                {
                    "id": "0060878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23771-1",
            "uniprot_ac": "P23771",
            "uniprot_id": "GATA3_HUMAN",
            "refseq_ac": "NP_001002295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trans-acting T-cell-specific transcription factor GATA-3",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 3",
                    "type": "synonym"
                },
                {
                    "name": "trans-acting T-cell-specific transcription factor GATA-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "trans-acting T-cell-specific transcription factor GATA-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATA3",
                    "type": "recommended"
                },
                {
                    "name": "GATA3",
                    "type": "synonym"
                },
                {
                    "name": "HDRS",
                    "type": "synonym"
                },
                {
                    "name": "HDR",
                    "type": "synonym"
                }
            ],
            "record_id": "P23771-1",
            "evidence": [
                {
                    "id": "146255",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/146255"
                },
                {
                    "id": "0060878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43574-1",
            "uniprot_ac": "P43574",
            "uniprot_id": "GAT1_YEAST",
            "refseq_ac": "NP_116632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein GAT1",
                    "type": "recommended"
                },
                {
                    "name": "Gat1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAT1",
                    "type": "recommended"
                },
                {
                    "name": "GAT1",
                    "type": "synonym"
                },
                {
                    "name": "MEP80",
                    "type": "synonym"
                },
                {
                    "name": "NIL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43574-1",
            "evidence": [
                {
                    "id": "0060878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42944-1",
            "uniprot_ac": "P42944",
            "uniprot_id": "GZF3_YEAST",
            "refseq_ac": "NP_012425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein GZF3",
                    "type": "recommended"
                },
                {
                    "name": "Gzf3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GZF3",
                    "type": "recommended"
                },
                {
                    "name": "DEH1",
                    "type": "synonym"
                },
                {
                    "name": "GZF3",
                    "type": "synonym"
                },
                {
                    "name": "J0806",
                    "type": "synonym"
                },
                {
                    "name": "NIL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42944-1",
            "evidence": [
                {
                    "id": "0060878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060878"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91623-1",
            "uniprot_ac": "P91623",
            "uniprot_id": "GATAC_DROME",
            "refseq_ac": "NP_731211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA-binding factor C",
                    "type": "recommended"
                },
                {
                    "name": "CG9656-PA",
                    "type": "synonym"
                },
                {
                    "name": "GATA-factor-c",
                    "type": "synonym"
                },
                {
                    "name": "Protein grain",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor GATA-C",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-C",
                    "type": "synonym"
                },
                {
                    "name": "grain, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "grain",
                    "type": "synonym"
                },
                {
                    "name": "grn-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)84Fa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grn",
                    "type": "recommended"
                },
                {
                    "name": "CG9656-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG9656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9656",
                    "type": "synonym"
                },
                {
                    "name": "GATAc",
                    "type": "synonym"
                },
                {
                    "name": "GRAIN",
                    "type": "synonym"
                },
                {
                    "name": "Gata-c",
                    "type": "synonym"
                },
                {
                    "name": "Gata2",
                    "type": "synonym"
                },
                {
                    "name": "Grn",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-2",
                    "type": "synonym"
                },
                {
                    "name": "dGATAc",
                    "type": "synonym"
                },
                {
                    "name": "dGatac",
                    "type": "synonym"
                },
                {
                    "name": "gra",
                    "type": "synonym"
                },
                {
                    "name": "grn",
                    "type": "synonym"
                },
                {
                    "name": "l(3)84Fa",
                    "type": "synonym"
                }
            ],
            "record_id": "P91623-1",
            "evidence": [
                {
                    "id": "0060878",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060878"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060878"
}