{
    "disease_id": "DOID:0051008",
    "recommended_name": {
        "id": "DOID:0051008",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051008",
        "name": "congenital nonspherocytic hemolytic anemia 9",
        "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "MONDO:0020458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020458",
            "name": "hemolytic anemia due to erythrocyte adenosine deaminase overproduction",
            "description": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected."
        },
        {
            "id": "MONDO:0020458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020458",
            "name": "adenosine deaminase, elevated, hemolytic anaemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0020458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020458",
            "name": "adenosine deaminase, elevated, hemolytic anemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0020458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020458",
            "name": "anemia, congenital, nonspherocytic hemolytic, 9",
            "description": ""
        },
        {
            "id": "MIM:301083",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301083",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 9",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051008",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051008",
            "categories": []
        },
        {
            "id": "MONDO:0020458",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020458",
            "categories": []
        },
        {
            "id": "MIM:301083",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301083",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VKZ0-1",
            "uniprot_ac": "Q9VKZ0",
            "uniprot_id": "Q9VKZ0_DROME",
            "refseq_ac": "NP_001260326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5034-PB; GATAd-PB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FI19405p1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATAd, isoform A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATAd, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GATAd, isoform B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATAd, isoform C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATAd",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG5034; dGATA-D; dGATAd; Dmel\\CG5034",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG5034",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5034",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5034",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATAd-RA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATAd",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-D",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dGATAd",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52172-1",
            "uniprot_ac": "P52172",
            "uniprot_id": "SRP_DROME",
            "refseq_ac": "NP_001027190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Box A-binding factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ABF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG3992-PD; srp-PD; A-box-binding factor; serpent; serpentD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein serpent",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor GATA-B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "serpent, isoform D",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srp",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A7.1; abf; Abf; ABF; CG3992; dGATAb; Dmel\\CG3992; DmGATAb; GATA; GATAb; l(3)01549; l(3)89B2; l(3)neo45; spt; Srp; SRP; srpD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "A7.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ABF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Abf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG3992",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmGATAb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3992",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3992",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATAb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SRP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Srp",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "abf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dGATAb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01549",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)89B2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo45",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "spt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "srpD",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "srp",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17679-1",
            "uniprot_ac": "P17679",
            "uniprot_id": "GATA1_MOUSE",
            "refseq_ac": "NP_032115",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythroid transcription factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Eryf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 1; NF-E1 DNA-binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NF-E1 DNA-binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "erythroid transcription factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gata1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gf-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "eryf1; Gata-1; Gf-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43574-1",
            "uniprot_ac": "P43574",
            "uniprot_id": "GAT1_YEAST",
            "refseq_ac": "NP_116632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein GAT1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gat1p",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAT1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GAT1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MEP80; NIL1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42944-1",
            "uniprot_ac": "P42944",
            "uniprot_id": "GZF3_YEAST",
            "refseq_ac": "NP_012425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein GZF3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gzf3p",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GZF3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DEH1; NIL2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GZF3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "J0806",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI36-1",
            "uniprot_ac": "Q9UI36",
            "uniprot_id": "DACH1_HUMAN",
            "refseq_ac": "NP_004383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dachshund homolog 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Dach1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dachshund homolog 1 isoform c",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dachshund homolog 1; dac homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DACH1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DACH1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DACH",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DACH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15976-1",
            "uniprot_ac": "P15976",
            "uniprot_id": "GATA1_HUMAN",
            "refseq_ac": "NP_002040",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythroid transcription factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Eryf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NF-E1 DNA-binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "erythroid transcription factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "globin transcription factor 1; transcription factor GATA1; NF-E1 DNA-binding protein; erythroid transcription factor 1; GATA-binding factor 1; nuclear factor, erythroid 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATA1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA; NF-E1; NFE1; XLANP; XLTDA; XLTT",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ERYF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hCG_19818",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                },
                {
                    "id": "301083",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8QT05-1",
            "uniprot_ac": "A0A2R8QT05",
            "uniprot_id": "A0A2R8QT05_DANRE",
            "refseq_ac": "NP_571309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA binding protein 1a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Gata1 protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "vlad tepes; GATA-binding protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gata1a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "gata1; gta1; sb:eu551; vlt; zg1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "gata1a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "gata1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gta1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu551",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "vlt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zg1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QAH1-1",
            "uniprot_ac": "A0A8M9QAH1",
            "uniprot_id": "A0A8M9QAH1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA-binding factor 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gata1b",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43429-1",
            "uniprot_ac": "P43429",
            "uniprot_id": "GATA1_RAT",
            "refseq_ac": "NP_036896",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythroid transcription factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Eryf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GF-1; GATA-1; GATA-binding factor 1; NF-E1 DNA-binding protein; GATA-binding protein 1 (globin transcription factor 1)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NF-E1 DNA-binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "erythroid transcription factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Eryf1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gata1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051008",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051008"
}