{
    "disease_id": "DOID:0051002",
    "recommended_name": {
        "id": "DOID:0051002",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051002",
        "name": "congenital dyserythropoietic anemia type IVb",
        "description": "A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13."
    },
    "synonyms": [
        {
            "id": "MONDO:0975829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975829",
            "name": "anemia, congenital dyserythropoietic, type IVb",
            "description": ""
        },
        {
            "id": "MIM:620969",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620969",
            "name": "Anemia, congenital dyserythropoietic, 4B",
            "description": "Anemia, congenital dyserythropoietic, 4B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051002",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051002",
            "categories": []
        },
        {
            "id": "MONDO:0975829",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975829",
            "categories": []
        },
        {
            "id": "MIM:620969",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620969",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P46099-1",
            "uniprot_ac": "P46099",
            "uniprot_id": "KLF1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krueppel-like factor 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "EKLF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klf1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Elkf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13351-1",
            "uniprot_ac": "Q13351",
            "uniprot_id": "KLF1_HUMAN",
            "refseq_ac": "NP_006554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krueppel-like factor 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "EKLF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel-like factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "erythroid Kruppel-like factor; erythroid-specific transcription factor EKLF; erythroid krueppel-like transcription factor; Kruppel like factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLF1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CDAN4A; CDAN4B; EKLF; EKLF/KLF1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "EKLF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KLF1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051002"
                },
                {
                    "id": "620969",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90XE6-1",
            "uniprot_ac": "Q90XE6",
            "uniprot_id": "KLF1_DANRE",
            "refseq_ac": "NP_571011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kruppel-like factor 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor d; erythroid krueppel-like transcription factor; Krueppel-like factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor d",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klf1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "eklf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "klf1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "klfd; zgc:194069",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "klfd",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6F3-1",
            "uniprot_ac": "G3V6F3",
            "uniprot_id": "G3V6F3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KLF transcription factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klf1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0051002",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051002"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051002"
}