{
    "disease_id": "DOID:0110917",
    "recommended_name": {
        "id": "DOID:0110917",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110917",
        "name": "hereditary spherocytosis type 2",
        "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110917",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110917",
            "name": "HS2",
            "description": ""
        },
        {
            "id": "DOID:0110917",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110917",
            "name": "SPH2",
            "description": ""
        },
        {
            "id": "DOID:0110917",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110917",
            "name": "hereditary spherocytosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "hereditary spherocytosis type 2",
            "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene."
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "HS2",
            "description": ""
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "SPH2",
            "description": ""
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "SPTB hereditary spherocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "hereditary spherocytosis caused by mutation in SPTB",
            "description": ""
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "hereditary spherocytosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0000913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "name": "spherocytosis, type 2",
            "description": ""
        },
        {
            "id": "MIM:616649",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616649",
            "name": "Spherocytosis 2",
            "description": "Spherocytosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110917"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110917",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110917",
            "categories": []
        },
        {
            "id": "MONDO:0000913",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000913",
            "categories": []
        },
        {
            "id": "MIM:616649",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616649",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B5B6-1",
            "uniprot_ac": "A0A8M2B5B6",
            "uniprot_id": "A0A8M2B5B6_DANRE",
            "refseq_ac": "XP_005158906",
            "glycoprotein": "no",
            "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 beta chain, erythrocytic isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sptb",
                    "type": "recommended"
                },
                {
                    "name": "fa09g12",
                    "type": "synonym"
                },
                {
                    "name": "sptb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa09g12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B5B6-1",
            "evidence": [
                {
                    "id": "0110917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110917"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "P15508-1",
            "evidence": [
                {
                    "id": "0110917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110917"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "P11277-1",
            "evidence": [
                {
                    "id": "616649",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616649"
                },
                {
                    "id": "0110917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AWM3-1",
            "uniprot_ac": "A0A8I6AWM3",
            "uniprot_id": "A0A8I6AWM3_RAT",
            "refseq_ac": "NP_001420901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "erythroid spectrin beta",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, erythrocytic isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, erythrocytic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptb",
                    "type": "recommended"
                },
                {
                    "name": "Spnb1",
                    "type": "synonym"
                },
                {
                    "name": "Sptb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AWM3-1",
            "evidence": [
                {
                    "id": "0110917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110917"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q00963-1",
            "evidence": [
                {
                    "id": "0110917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110917"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110917"
}