{
    "disease_id": "DOID:0050882",
    "recommended_name": {
        "id": "DOID:0050882",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050882",
        "name": "spinocerebellar ataxia 5",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0010848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010848",
            "name": "spinocerebellar ataxia type 5",
            "description": "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression."
        },
        {
            "id": "MONDO:0010848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010848",
            "name": "SCA5",
            "description": ""
        },
        {
            "id": "MONDO:0010848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010848",
            "name": "spinocerebellar ataxia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010848",
            "name": "spinocerebellar ataxia 5",
            "description": ""
        },
        {
            "id": "MIM:600224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600224",
            "name": "Spinocerebellar ataxia 5",
            "description": "Spinocerebellar ataxia 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050882"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050882",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050882",
            "categories": []
        },
        {
            "id": "MONDO:0010848",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010848",
            "categories": []
        },
        {
            "id": "MIM:600224",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600224",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TRJ9-1",
            "uniprot_ac": "A0AB32TRJ9",
            "uniprot_id": "A0AB32TRJ9_DANRE",
            "refseq_ac": "XP_068077312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "spectrin family protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sptbn2",
                    "type": "recommended"
                },
                {
                    "name": "fb48h06",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-99p10.2",
                    "type": "synonym"
                },
                {
                    "name": "sptbn2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb48h06",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A3L2-1",
            "uniprot_ac": "A0AB13A3L2",
            "uniprot_id": "A0AB13A3L2_DANRE",
            "refseq_ac": "NP_001352121",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 1",
                    "type": "synonym"
                },
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                    "name": "zmp:0000000587",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000859",
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            ],
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                {
                    "name": "sptbn1",
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                {
                    "name": "fb30a06",
                    "type": "synonym"
                },
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                    "name": "fb92e08",
                    "type": "synonym"
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                {
                    "name": "si:zfos-1837d3.1",
                    "type": "synonym"
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                    "name": "sptbn1",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "wu:fb92e08",
                    "type": "synonym"
                }
            ],
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                    "id": "0050882",
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                }
            ]
        },
        {
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                }
            ],
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                {
                    "name": "Spectrin beta chain",
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                },
                {
                    "name": "spectrin beta chain, erythrocytic isoform X1",
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                }
            ],
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                {
                    "name": "sptb",
                    "type": "recommended"
                },
                {
                    "name": "fa09g12",
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                },
                {
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                }
            ],
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                {
                    "id": "0050882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15508-1",
            "uniprot_ac": "P15508",
            "uniprot_id": "SPTB1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, erythrocytic",
                    "type": "recommended"
                },
                {
                    "name": "Beta-I spectrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptb",
                    "type": "recommended"
                },
                {
                    "name": "Spnb-1",
                    "type": "synonym"
                },
                {
                    "name": "Spnb1",
                    "type": "synonym"
                },
                {
                    "name": "Sptb1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050882",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62261-1",
            "uniprot_ac": "Q62261",
            "uniprot_id": "SPTB2_MOUSE",
            "refseq_ac": "NP_033286",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, non-erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Embryonic liver fodrin",
                    "type": "synonym"
                },
                {
                    "name": "Fodrin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "beta fodrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin 2, non-erythrocytic",
                    "type": "synonym"
                },
                {
                    "name": "brain spectrin",
                    "type": "synonym"
                },
                {
                    "name": "embryonic liver fodrin",
                    "type": "synonym"
                },
                {
                    "name": "fodrin beta chain",
                    "type": "synonym"
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                {
                    "name": "spectrin G",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta 2",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, brain 1",
                    "type": "synonym"
                },
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                    "name": "spectrin beta chain, non-erythrocytic 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 1",
                    "type": "synonym"
                },
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                    "name": "spectrin, non-erythroid beta chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptbn1",
                    "type": "recommended"
                },
                {
                    "name": "9930031C03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Elf",
                    "type": "synonym"
                },
                {
                    "name": "SPTB2",
                    "type": "synonym"
                },
                {
                    "name": "Spnb-2",
                    "type": "synonym"
                },
                {
                    "name": "Spnb2",
                    "type": "synonym"
                },
                {
                    "name": "Sptb2",
                    "type": "synonym"
                },
                {
                    "name": "Sptbn1",
                    "type": "synonym"
                },
                {
                    "name": "elf1",
                    "type": "synonym"
                },
                {
                    "name": "elf3",
                    "type": "synonym"
                },
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                    "name": "mKIAA4049",
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                    "id": "0050882",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
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        {
            "uniprot_canonical_ac": "E9PX29-1",
            "uniprot_ac": "E9PX29",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "beta-spectrin 4",
                    "type": "synonym"
                },
                {
                    "name": "lumbosacral neuroaxonal dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "quivering",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta 4",
                    "type": "synonym"
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                {
                    "name": "spectrin beta chain, non-erythrocytic 4 isoform sigma1",
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                    "name": "5830426A08Rik",
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                    "name": "ROSA62",
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                    "name": "SpbIV",
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                    "name": "Spnb4",
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                {
                    "name": "Sptbn4",
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                {
                    "name": "dyn",
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                    "name": "lnd",
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                    "name": "nmf261",
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                    "name": "nmf379",
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                    "id": "0050882",
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                    "name": "Homo sapiens",
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                {
                    "name": "spectrin beta chain, brain 2",
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                    "name": "KIAA0302",
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                    "id": "0050882",
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                    "id": "0050882",
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            "uniprot_canonical_ac": "Q00963-1",
            "uniprot_ac": "Q00963",
            "uniprot_id": "SPTCB_DROME",
            "refseq_ac": "NP_523388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "CG5870-PA",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1B3",
                    "type": "synonym"
                },
                {
                    "name": "beta spectrin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "beta spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-III-Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Spec-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "karussell",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "beta-Spec",
                    "type": "recommended"
                },
                {
                    "name": "B-spec",
                    "type": "synonym"
                },
                {
                    "name": "CG5870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5870",
                    "type": "synonym"
                },
                {
                    "name": "SPEC8",
                    "type": "synonym"
                },
                {
                    "name": "Spec-beta",
                    "type": "synonym"
                },
                {
                    "name": "Spec-b",
                    "type": "synonym"
                },
                {
                    "name": "Specbeta",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Spec",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1B3",
                    "type": "synonym"
                },
                {
                    "name": "b spectrin",
                    "type": "synonym"
                },
                {
                    "name": "b-Spec",
                    "type": "synonym"
                },
                {
                    "name": "beta-Spec",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-spec",
                    "type": "synonym"
                },
                {
                    "name": "betaHeavy-Spec",
                    "type": "synonym"
                },
                {
                    "name": "betaSpec",
                    "type": "synonym"
                },
                {
                    "name": "betaspec",
                    "type": "synonym"
                },
                {
                    "name": "beta",
                    "type": "synonym"
                },
                {
                    "name": "i168",
                    "type": "synonym"
                },
                {
                    "name": "i6",
                    "type": "synonym"
                },
                {
                    "name": "kus",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0074",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0108",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0198",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H254-1",
            "uniprot_ac": "Q9H254",
            "uniprot_id": "SPTN4_HUMAN",
            "refseq_ac": "NP_066022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, non-erythrocytic 4",
                    "type": "recommended"
                },
                {
                    "name": "Beta-IV spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin, non-erythroid beta chain 3",
                    "type": "synonym"
                },
                {
                    "name": "beta-IV spectrin",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, brain 3",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 4 isoform sigma1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 4",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, non-erythroid beta chain 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTBN4",
                    "type": "recommended"
                },
                {
                    "name": "CMND",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1642",
                    "type": "synonym"
                },
                {
                    "name": "NEDHND",
                    "type": "synonym"
                },
                {
                    "name": "QV",
                    "type": "synonym"
                },
                {
                    "name": "SPNB4",
                    "type": "synonym"
                },
                {
                    "name": "SPTBN3",
                    "type": "synonym"
                },
                {
                    "name": "SPTBN4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H254-1",
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                {
                    "id": "0050882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01082-1",
            "uniprot_ac": "Q01082",
            "uniprot_id": "SPTB2_HUMAN",
            "refseq_ac": "NP_003119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, non-erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Fodrin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin, non-erythroid beta chain 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-G spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-fodrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin II",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin non-erythrocytic 1",
                    "type": "synonym"
                },
                {
                    "name": "embryonic liver beta-fodrin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 102",
                    "type": "synonym"
                },
                {
                    "name": "fodrin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, brain 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, non-erythroid beta chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTBN1",
                    "type": "recommended"
                },
                {
                    "name": "DDISBA",
                    "type": "synonym"
                },
                {
                    "name": "ELF",
                    "type": "synonym"
                },
                {
                    "name": "HEL102",
                    "type": "synonym"
                },
                {
                    "name": "SPTB2",
                    "type": "synonym"
                },
                {
                    "name": "SPTBN1",
                    "type": "synonym"
                },
                {
                    "name": "betaSpII",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11277-1",
            "uniprot_ac": "P11277",
            "uniprot_id": "SPTB1_HUMAN",
            "refseq_ac": "NP_001020029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, erythrocytic",
                    "type": "recommended"
                },
                {
                    "name": "Beta-I spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Sp beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-I spectrin",
                    "type": "synonym"
                },
                {
                    "name": "erythrocytic spectrin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "membrane cytoskeletal protein",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta Tandil",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, erythrocytic isoform a",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, erythrocytic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTB",
                    "type": "recommended"
                },
                {
                    "name": "EL3",
                    "type": "synonym"
                },
                {
                    "name": "HS2",
                    "type": "synonym"
                },
                {
                    "name": "HSPTB1",
                    "type": "synonym"
                },
                {
                    "name": "SPH2",
                    "type": "synonym"
                },
                {
                    "name": "SPTB1",
                    "type": "synonym"
                },
                {
                    "name": "SPTB",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050882"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050882"
}