{
    "disease_id": "DOID:0060348",
    "recommended_name": {
        "id": "DOID:0060348",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060348",
        "name": "hypoparathyroidism-retardation-dysmorphism syndrome",
        "description": "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060348",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060348",
            "name": "hypoparathyroidism with short stature, mental retardation and seizures",
            "description": ""
        },
        {
            "id": "DOID:0060348",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060348",
            "name": "HRD syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060348",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060348",
            "name": "Sanjad-Sakati syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism-retardation-dysmorphism syndrome",
            "description": "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features."
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "HRD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "HRDS",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "Richardson-Kirk syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "SSS",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "Sanjad-Sakati syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism with short stature, intellectual disability and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism-intellectual disability-dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism-retardation-dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism-short stature-intellectual disability-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "HRD",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism with short stature, mental retardation, and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0009426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "name": "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay",
            "description": ""
        },
        {
            "id": "MIM:241410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241410",
            "name": "Hypoparathyroidism-retardation-dysmorphism syndrome",
            "description": "Hypoparathyroidism-retardation-dysmorphism syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060348"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060348",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060348",
            "categories": []
        },
        {
            "id": "MONDO:0009426",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009426",
            "categories": []
        },
        {
            "id": "MIM:241410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/241410",
            "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": "0060348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U378-1",
            "uniprot_ac": "Q5U378",
            "uniprot_id": "TBCE_DANRE",
            "refseq_ac": "NP_001035078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tbce",
                    "type": "recommended"
                },
                {
                    "name": "tbce",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123075",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIV8-1",
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            "refseq_ac": "NP_848027",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "progressive motor neuropathy",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbce",
                    "type": "recommended"
                },
                {
                    "name": "2610206D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "C530005D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbce",
                    "type": "synonym"
                },
                {
                    "name": "pmn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIV8-1",
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                {
                    "id": "0060348",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23772-1",
            "uniprot_ac": "P23772",
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            "refseq_ac": "NP_032117",
            "glycoprotein": "yes",
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                {
                    "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"
                }
            ],
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            "evidence": [
                {
                    "id": "0060348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15813-1",
            "uniprot_ac": "Q15813",
            "uniprot_id": "TBCE_HUMAN",
            "refseq_ac": "NP_001072983",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone E",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin-folding cofactor E",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone E isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBCE",
                    "type": "recommended"
                },
                {
                    "name": "HRD",
                    "type": "synonym"
                },
                {
                    "name": "KCS1",
                    "type": "synonym"
                },
                {
                    "name": "KCS",
                    "type": "synonym"
                },
                {
                    "name": "PEAMO",
                    "type": "synonym"
                },
                {
                    "name": "TBCE",
                    "type": "synonym"
                },
                {
                    "name": "pac2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15813-1",
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                {
                    "id": "241410",
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                    "url": "https://www.omim.org/entry/241410"
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                {
                    "id": "0060348",
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                }
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            "uniprot_canonical_ac": "P39937-1",
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            "refseq_ac": "NP_010922",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Protein PAC2",
                    "type": "recommended"
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                {
                    "name": "Pac2p",
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                    "name": "PAC2",
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                    "id": "0060348",
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                }
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                    "name": "Protein GZF3",
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                }
            ],
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                    "name": "GZF3",
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                    "name": "DEH1",
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                    "name": "GZF3",
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                    "name": "J0806",
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                    "id": "0060348",
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                }
            ],
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                {
                    "name": "Transcriptional regulatory protein GAT1",
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                    "name": "GAT1",
                    "type": "recommended"
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                    "name": "GAT1",
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                },
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                    "name": "MEP80",
                    "type": "synonym"
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                    "name": "NIL1",
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                    "id": "0060348",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
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            "uniprot_canonical_ac": "Q5FVQ9-1",
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                    "name": "Tubulin-specific chaperone E",
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                    "name": "Tubulin-folding cofactor E",
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                    "name": "tubulin-specific chaperone E",
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                    "id": "0060348",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
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                    "name": "Tbce-PC",
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                {
                    "name": "Tubulin-binding cofactor E, isoform C",
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                },
                {
                    "name": "Tubulin-folding cofactor E",
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                    "name": "tubulin-specific chaperone E",
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                    "name": "Tbce",
                    "type": "recommended"
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                {
                    "name": "CG7861",
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                },
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                    "name": "Dmel\\CG7861",
                    "type": "synonym"
                },
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                    "name": "TBCE",
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                    "name": "Tbce",
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                },
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                    "name": "dTBCE",
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                },
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                    "id": "0060348",
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            "uniprot_canonical_ac": "P91623-1",
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                }
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                    "name": "GATA-binding factor C",
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                    "name": "Protein grain",
                    "type": "synonym"
                },
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                    "name": "Transcription factor GATA-C",
                    "type": "synonym"
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                    "name": "grain, isoform A",
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                },
                {
                    "name": "grain",
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                {
                    "name": "grn-PA",
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                {
                    "name": "lethal(3)84Fa",
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            ],
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                    "name": "grn",
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                {
                    "name": "CG9656",
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                    "name": "Dmel\\CG9656",
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                {
                    "name": "Dmel_CG9656",
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                {
                    "name": "GATAc",
                    "type": "synonym"
                },
                {
                    "name": "GRAIN",
                    "type": "synonym"
                },
                {
                    "name": "Gata-c",
                    "type": "synonym"
                },
                {
                    "name": "Gata2",
                    "type": "synonym"
                },
                {
                    "name": "Grn",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-2",
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                },
                {
                    "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": "0060348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
                }
            ]
        },
        {
            "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": "0060348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060348"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060348"
}