{
    "disease_id": "DOID:0081273",
    "recommended_name": {
        "id": "DOID:0081273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081273",
        "name": "Siddiqi syndrome",
        "description": "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032842",
            "name": "Siddiqi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032842",
            "name": "SIDDIS",
            "description": ""
        },
        {
            "id": "MIM:618635",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618635",
            "name": "Siddiqi syndrome",
            "description": "Siddiqi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081273"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081273",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081273",
            "categories": []
        },
        {
            "id": "MONDO:0032842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032842",
            "categories": []
        },
        {
            "id": "MIM:618635",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618635",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q52KL1-1",
            "uniprot_ac": "Q52KL1",
            "uniprot_id": "FITM2_DANRE",
            "refseq_ac": "NP_001018334",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A diphosphatase FITM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Fat storage-inducing transmembrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Fat-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coenzyme A diphosphatase FITM2",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing transcript 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fitm2",
                    "type": "recommended"
                },
                {
                    "name": "c20orf142",
                    "type": "synonym"
                },
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                    "name": "fit2",
                    "type": "synonym"
                },
                {
                    "name": "fitm2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc04g08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fr13b05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110840",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5CZN0-1",
            "uniprot_ac": "Q5CZN0",
            "uniprot_id": "FITM1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fat storage-inducing transmembrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FITM1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Fat-inducing protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "fitm1l",
                    "type": "recommended"
                },
                {
                    "name": "FIT1",
                    "type": "synonym"
                },
                {
                    "name": "FITM1",
                    "type": "synonym"
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                {
                    "name": "fit1",
                    "type": "synonym"
                },
                {
                    "name": "fitm1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112967",
                    "type": "synonym"
                }
            ],
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                    "id": "0081273",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59266-1",
            "uniprot_ac": "P59266",
            "uniprot_id": "FITM2_MOUSE",
            "refseq_ac": "NP_775573",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Acyl-coenzyme A diphosphatase FITM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Fat storage-inducing transmembrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Fat-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coenzyme A diphosphatase FITM2",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing transcript 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fitm2",
                    "type": "recommended"
                },
                {
                    "name": "D930001I22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fit2",
                    "type": "synonym"
                },
                {
                    "name": "Fitm2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91V79-1",
            "uniprot_ac": "Q91V79",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fat storage-inducing transmembrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Fat-inducing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fat storage-inducing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing transcript 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fitm1",
                    "type": "recommended"
                },
                {
                    "name": "1110028A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cg10671",
                    "type": "synonym"
                },
                {
                    "name": "Fit1",
                    "type": "synonym"
                },
                {
                    "name": "Fitm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V79-1",
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                {
                    "id": "0081273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081273"
                }
            ]
        },
        {
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            "uniprot_ac": "Q8N6M3",
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            "refseq_ac": "NP_001073941",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Acyl-coenzyme A diphosphatase FITM2",
                    "type": "recommended"
                },
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                    "name": "3.6.1.-",
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                },
                {
                    "name": "Fat storage-inducing transmembrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Fat-inducing protein 2",
                    "type": "synonym"
                },
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                    "name": "acyl-coenzyme A diphosphatase FITM2",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fat-inducing transcript 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "FITM2",
                    "type": "recommended"
                },
                {
                    "name": "C20orf142",
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                },
                {
                    "name": "FIT2",
                    "type": "synonym"
                },
                {
                    "name": "FITM2",
                    "type": "synonym"
                },
                {
                    "name": "Fit2",
                    "type": "synonym"
                },
                {
                    "name": "SIDDIS",
                    "type": "synonym"
                },
                {
                    "name": "dJ881L22.2",
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                }
            ],
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                },
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                    "id": "0081273",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53012-1",
            "uniprot_ac": "P53012",
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            "refseq_ac": "NP_011389",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                }
            ],
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                    "name": "Acyl-coenzyme A diphosphatase SCS3",
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                },
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                    "name": "3.6.1.-",
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                {
                    "name": "FIT family protein SCS3",
                    "type": "synonym"
                },
                {
                    "name": "Scs3p",
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                }
            ],
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                {
                    "name": "SCS3",
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                },
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                    "name": "G2868",
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                    "id": "0081273",
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                }
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                }
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                    "name": "RGD1307696",
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                    "id": "0081273",
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            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIQ3-1",
            "uniprot_ac": "D3ZIQ3",
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                    "name": "fat storage-inducing transmembrane protein 1",
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                }
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                    "name": "RGD1306911",
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                    "id": "0081273",
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                }
            ]
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG10671-PA",
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                {
                    "name": "Fat storage inducing transmembrane protein, isoform A",
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                    "name": "Fat storage-inducing transmembrane protein 2",
                    "type": "synonym"
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                    "name": "Fat storage-inducing transmembrane protein",
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                    "name": "Fat-inducing protein 2",
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                    "name": "Dmel\\CG10671",
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                    "name": "Fit2",
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                    "name": "Fitm",
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                    "id": "0081273",
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                }
            ]
        },
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Fat storage-inducing transmembrane protein 1",
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                {
                    "name": "fat storage-inducing transmembrane protein 1",
                    "type": "synonym"
                },
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                    "name": "fat-inducing protein 1",
                    "type": "synonym"
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                    "name": "fat-inducing transcript 1",
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                    "id": "0081273",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081273"
}