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        "title": "A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.",
        "journal": "Blood",
        "date": "1994",
        "authors": "de Castro CM, Devlin B, Fleenor DE, Lee ME, Kaufman RE",
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        "title": "Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant of the alpha 1 beta 2 contact.",
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        "authors": "Owen MC, Ockelford PA, Wells RM",
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    },
    {
        "title": "Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia.",
        "journal": "Hemoglobin",
        "date": "1977",
        "authors": "Ohba Y, Miyaji T, Matsuoka M, Sugiyama K, Suzuki T, Sugiura T",
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    {
        "title": "Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T).",
        "journal": "Hemoglobin",
        "date": "1997",
        "authors": "Waye JS, Eng B, Patterson M, Chui DH, Fernandes BJ",
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                ],
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                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564875145"
                    },
                    {
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                    {
                        "id": "6585831",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/6585831"
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                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 73,
                "end_pos": 73,
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                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->X).",
                "chr_id": "11",
                "chr_pos": "5226671_5226675deli",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S73",
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                ],
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                    {
                        "disease_id": "DOID:12241",
                        "recommended_name": {
                            "id": "DOID:12241",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12241",
                            "name": "beta thalassemia",
                            "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0013517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013517",
                                "name": "beta-thalassemia HBB/LCRB",
                                "description": "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype."
                            },
                            {
                                "id": "MONDO:0013517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013517",
                                "name": "thalassemia, beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013517",
                                "name": "thalassemia, hispanic gamma-delta-beta",
                                "description": ""
                            },
                            {
                                "id": "MIM:613985",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613985",
                                "name": "Beta-thalassemia",
                                "description": "Beta-thalassemia"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12241",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12241"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "603902",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/603902"
                            },
                            {
                                "id": "0080770",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080770"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111632",
                        "recommended_name": {
                            "id": "DOID:0111632",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111632",
                            "name": "familial erythrocytosis 6",
                            "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111632",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111632",
                                "name": "ECYT6",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111632",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111632",
                                "name": "beta-globin type erythrocytosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111632",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111632",
                                "name": "beta-globin type polycythemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0054801",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0054801",
                                "name": "erythrocytosis, familial, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0054801",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0054801",
                                "name": "erythrocytosis 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0054801",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0054801",
                                "name": "ECYT6",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0111632",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111632"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0081445",
                        "recommended_name": {
                            "id": "DOID:0081445",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0081445",
                            "name": "sickle cell disease",
                            "description": "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia)."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "sickle cell disease",
                                "description": "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur."
                            },
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "Haemoglobin S disease without crisis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "Hb-S/Hb-C disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "Sickle Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "sickle cell anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "sickle cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011382",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
                                "name": "sickle-cell/Hb-C disease without crisis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011382",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011382",
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