{
    "disease_id": "DOID:0080770",
    "recommended_name": {
        "id": "DOID:0080770",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080770",
        "name": "autosomal dominant beta thalassemia",
        "description": "A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia."
    },
    "synonyms": [
        {
            "id": "DOID:0080770",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080770",
            "name": "inclusion body beta-thalassemia",
            "description": ""
        },
        {
            "id": "MONDO:0011381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011381",
            "name": "dominant beta-thalassemia",
            "description": "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia."
        },
        {
            "id": "MONDO:0011381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011381",
            "name": "inclusion body beta-thalassemia",
            "description": ""
        },
        {
            "id": "MONDO:0011381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011381",
            "name": "thalassemia-beta, dominant inclusion-body",
            "description": ""
        },
        {
            "id": "MIM:603902",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603902",
            "name": "Beta-thalassemia, dominant, inclusion body type",
            "description": "Beta-thalassemia, dominant, inclusion body type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080770"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080770",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080770",
            "categories": []
        },
        {
            "id": "MONDO:0011381",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011381",
            "categories": []
        },
        {
            "id": "MIM:603902",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603902",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZM12-1",
            "uniprot_ac": "Q6ZM12",
            "uniprot_id": "Q6ZM12_DANRE",
            "refseq_ac": "NP_001003431",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin, beta adult 2",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, beta adult 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hbba2",
                    "type": "recommended"
                },
                {
                    "name": "fj42e02",
                    "type": "synonym"
                },
                {
                    "name": "hbba2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-5k11.13",
                    "type": "synonym"
                },
                {
                    "name": "si:xx-by187g17.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj42e02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113872",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92880",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZM12-1",
            "evidence": [
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02089-1",
            "uniprot_ac": "P02089",
            "uniprot_id": "HBB2_MOUSE",
            "refseq_ac": "NP_058652",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-2-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta-minor chain",
                    "type": "synonym"
                },
                {
                    "name": "beta minor globin",
                    "type": "synonym"
                },
                {
                    "name": "beta min",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hbb-b2",
                    "type": "recommended"
                },
                {
                    "name": "AI036344",
                    "type": "synonym"
                },
                {
                    "name": "Hbb-b2",
                    "type": "synonym"
                },
                {
                    "name": "Hbb2",
                    "type": "synonym"
                },
                {
                    "name": "Hbbt2",
                    "type": "synonym"
                },
                {
                    "name": "beta2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02089-1",
            "evidence": [
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DUK4-1",
            "uniprot_ac": "A8DUK4",
            "uniprot_id": "A8DUK4_MOUSE",
            "refseq_ac": "NP_001188320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin, beta adult s chain",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin, beta adult t chain",
                    "type": "synonym"
                },
                {
                    "name": "beta s",
                    "type": "synonym"
                },
                {
                    "name": "beta-globin",
                    "type": "synonym"
                },
                {
                    "name": "beta-single",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit beta-1-like",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, beta adult s chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hbb-bs",
                    "type": "recommended"
                },
                {
                    "name": "Beta-s",
                    "type": "synonym"
                },
                {
                    "name": "Hbb-bs",
                    "type": "synonym"
                },
                {
                    "name": "Hbb-bt",
                    "type": "synonym"
                },
                {
                    "name": "Hbbt1",
                    "type": "synonym"
                },
                {
                    "name": "Hbbt2",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DUK4-1",
            "evidence": [
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02088-1",
            "uniprot_ac": "P02088",
            "uniprot_id": "HBB1_MOUSE",
            "refseq_ac": "NP_001265090",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta-major chain",
                    "type": "synonym"
                },
                {
                    "name": "beta major globin",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit beta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hbb-b1",
                    "type": "recommended"
                },
                {
                    "name": "AA409645",
                    "type": "synonym"
                },
                {
                    "name": "Hbb-b1",
                    "type": "synonym"
                },
                {
                    "name": "Hbb1",
                    "type": "synonym"
                },
                {
                    "name": "Hbbt1",
                    "type": "synonym"
                },
                {
                    "name": "Hbbt2",
                    "type": "synonym"
                },
                {
                    "name": "MommeD7",
                    "type": "synonym"
                },
                {
                    "name": "MommeD",
                    "type": "synonym"
                },
                {
                    "name": "beta1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02088-1",
            "evidence": [
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68871-1",
            "uniprot_ac": "P68871",
            "uniprot_id": "HBB_HUMAN",
            "refseq_ac": "NP_000509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Beta-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hb Monza protein",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "beta globin chain",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HBB",
                    "type": "recommended"
                },
                {
                    "name": "CD113t-C",
                    "type": "synonym"
                },
                {
                    "name": "ECYT6",
                    "type": "synonym"
                },
                {
                    "name": "HBB",
                    "type": "synonym"
                },
                {
                    "name": "beta-globin",
                    "type": "synonym"
                }
            ],
            "record_id": "P68871-1",
            "evidence": [
                {
                    "id": "603902",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603902"
                },
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02091-1",
            "uniprot_ac": "P02091",
            "uniprot_id": "HBB1_RAT",
            "refseq_ac": "NP_150237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta chain, major-form",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin beta-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "III beta-1 globin",
                    "type": "synonym"
                },
                {
                    "name": "III beta-2 globin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1-globin",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin beta chain complex",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin beta chain, major-form",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin beta-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hbb",
                    "type": "recommended"
                },
                {
                    "name": "Hbb-b1",
                    "type": "synonym"
                },
                {
                    "name": "Hbb",
                    "type": "synonym"
                }
            ],
            "record_id": "P02091-1",
            "evidence": [
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF15-1",
            "uniprot_ac": "Q9VF15",
            "uniprot_id": "Q9VF15_DROME",
            "refseq_ac": "NP_001287343",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.11.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG9734-PF",
                    "type": "synonym"
                },
                {
                    "name": "Globin 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Globin 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Globin 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Globin 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Globin 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "glob1-PF",
                    "type": "synonym"
                },
                {
                    "name": "globin 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "globin 1",
                    "type": "synonym"
                },
                {
                    "name": "haemoglobin",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin gene 1",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glob1",
                    "type": "recommended"
                },
                {
                    "name": "CG9734",
                    "type": "synonym"
                },
                {
                    "name": "DmHb1",
                    "type": "synonym"
                },
                {
                    "name": "DmHb",
                    "type": "synonym"
                },
                {
                    "name": "DmeGb1",
                    "type": "synonym"
                },
                {
                    "name": "DmeGlob1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9734",
                    "type": "synonym"
                },
                {
                    "name": "DroHb",
                    "type": "synonym"
                },
                {
                    "name": "Glob1",
                    "type": "synonym"
                },
                {
                    "name": "Hb",
                    "type": "synonym"
                },
                {
                    "name": "dmeglob1",
                    "type": "synonym"
                },
                {
                    "name": "glob1",
                    "type": "synonym"
                },
                {
                    "name": "globin1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF15-1",
            "evidence": [
                {
                    "id": "0080770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080770"
}