{
    "disease_id": "DOID:0110031",
    "recommended_name": {
        "id": "DOID:0110031",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110031",
        "name": "hemoglobin H disease",
        "description": "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other."
    },
    "synonyms": [
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "HBH",
            "description": ""
        },
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "alpha thalassemia, haemoglobin H type",
            "description": ""
        },
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "alpha thalassemia, hemoglobin H type",
            "description": ""
        },
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "alpha-thalassemia intermedia",
            "description": ""
        },
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "haemoglobin H disease",
            "description": ""
        },
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "haemoglobin H disease, deletional",
            "description": ""
        },
        {
            "id": "DOID:0110031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "name": "hemoglobin H disease, deletional",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "hemoglobin H disease",
            "description": "Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2)."
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "Alpha-thalassemia intermedia",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "HBA1;HBA2 digenic triallelic hemoglobin H disease",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "HBH",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "HbH",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "HbH disease",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "alpha-thalassemia intermedia",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "haemoglobin H disease, deletional and nondeletional",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "hemoglobin H disease",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "hemoglobin H disease caused by triallelic variation in HBA1;HBA2",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "hemoglobin H disease related to triallelic variation in HBA1 and HBA2",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "hemoglobin H disease, deletional",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "hemoglobin H disease, deletional and nondeletional",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "Alpha-thalassemia, Haemoglobin H type",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "Haemoglobin H disease, Deletional",
            "description": ""
        },
        {
            "id": "MONDO:0013512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "name": "Haemoglobin H disease, Nondeletional",
            "description": ""
        },
        {
            "id": "MIM:613978",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613978",
            "name": "Hemoglobin H disease",
            "description": "Hemoglobin H disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110031"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110031",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110031",
            "categories": []
        },
        {
            "id": "MONDO:0013512",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013512",
            "categories": []
        },
        {
            "id": "MIM:613978",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613978",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IQ12-1",
            "uniprot_ac": "A0AC58IQ12",
            "uniprot_id": "A0AC58IQ12_DANRE",
            "refseq_ac": "XP_073796316",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin, alpha adult 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, alpha adult 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hbaa2",
                    "type": "recommended"
                },
                {
                    "name": "hbaa2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-5k11.6",
                    "type": "synonym"
                },
                {
                    "name": "si:xx-187g17.5",
                    "type": "synonym"
                },
                {
                    "name": "si:xx-by187g17.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112086",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IQ12-1",
            "evidence": [
                {
                    "id": "0110031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90487-1",
            "uniprot_ac": "Q90487",
            "uniprot_id": "HBA_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-globin aa1",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hbaa1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q90487-1",
            "evidence": [
                {
                    "id": "0110031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01942-1",
            "uniprot_ac": "P01942",
            "uniprot_id": "HBA_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": "Hemoglobin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hba",
                    "type": "recommended"
                },
                {
                    "name": "Hba-a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P01942-1",
            "evidence": [
                {
                    "id": "0110031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P69905-1",
            "uniprot_ac": "P69905",
            "uniprot_id": "HBA_HUMAN",
            "refseq_ac": "NP_000508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha globin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 globin",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "mutant hemoglobin alpha 2 globin chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HBA1",
                    "type": "recommended"
                },
                {
                    "name": "HBA2",
                    "type": "recommended"
                },
                {
                    "name": "ECYT7",
                    "type": "synonym"
                },
                {
                    "name": "HBA-T2",
                    "type": "synonym"
                },
                {
                    "name": "HBA2",
                    "type": "synonym"
                },
                {
                    "name": "HBH",
                    "type": "synonym"
                }
            ],
            "record_id": "P69905-1",
            "evidence": [
                {
                    "id": "613978",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613978"
                },
                {
                    "id": "0110031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01946-1",
            "uniprot_ac": "P01946",
            "uniprot_id": "HBA_RAT",
            "refseq_ac": "NP_001007723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hemoglobin subunit alpha-1/2",
                    "type": "recommended"
                },
                {
                    "name": "2-alpha globin",
                    "type": "synonym"
                },
                {
                    "name": "2-alpha-1 globin",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1/2-globin",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin alpha-1/2 chain",
                    "type": "synonym"
                },
                {
                    "name": "Hemoglobin subunit alpha-1/2",
                    "type": "synonym"
                },
                {
                    "name": "globin c2",
                    "type": "synonym"
                },
                {
                    "name": "globin c3",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin alpha 2 chain",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin alpha, adult chain 2",
                    "type": "synonym"
                },
                {
                    "name": "hemoglobin, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hba-a1",
                    "type": "recommended"
                },
                {
                    "name": "Hba-a3",
                    "type": "recommended"
                },
                {
                    "name": "Hba1",
                    "type": "recommended"
                },
                {
                    "name": "Hbq1b",
                    "type": "recommended"
                },
                {
                    "name": "Glnc2",
                    "type": "synonym"
                },
                {
                    "name": "Glnc3",
                    "type": "synonym"
                },
                {
                    "name": "Hba-a1",
                    "type": "synonym"
                },
                {
                    "name": "Hba-a2",
                    "type": "synonym"
                },
                {
                    "name": "Hba1",
                    "type": "synonym"
                },
                {
                    "name": "Hba2",
                    "type": "synonym"
                },
                {
                    "name": "Hbq1b",
                    "type": "synonym"
                }
            ],
            "record_id": "P01946-1",
            "evidence": [
                {
                    "id": "0110031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110031"
                }
            ]
        },
        {
            "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": "0110031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110031"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110031"
}