{
    "disease_id": "DOID:0111400",
    "recommended_name": {
        "id": "DOID:0111400",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111400",
        "name": "congenital dyserythropoietic anemia type IVa",
        "description": "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "Congenital dyserythropoietic anemia due to KLF1 mutation",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "CDA IV",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "CDA due to KLF1 mutation",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "CDA type 4",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "CDA type IV",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "CDAN4",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "Congenital dyserythropoietic anaemia type 4",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "Congenital dyserythropoietic anemia type 4",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "congenital dyserythropoietic anaemia type IV",
            "description": ""
        },
        {
            "id": "DOID:0111400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "name": "Congenital dyserythropoietic anaemia due to KLF1 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "congenital dyserythropoietic anemia type 4",
            "description": "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth."
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "CDA IV",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "CDA due to KLF1 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "CDA type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "CDA type IV",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "CDAN4",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "congenital dyserythropoietic anemia due to KLF1 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "congenital dyserythropoietic anemia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "dyserythropoietic anemia, congenital, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0013355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "name": "anemia, congenital dyserythropoietic, type IV",
            "description": ""
        },
        {
            "id": "MIM:613673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613673",
            "name": "Anemia, congenital dyserythropoietic, 4A",
            "description": "Anemia, congenital dyserythropoietic, 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111400"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111400",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111400",
            "categories": []
        },
        {
            "id": "MONDO:0013355",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013355",
            "categories": []
        },
        {
            "id": "MIM:613673",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613673",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor d",
                    "type": "synonym"
                },
                {
                    "name": "erythroid krueppel-like transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klf1",
                    "type": "recommended"
                },
                {
                    "name": "eklf",
                    "type": "synonym"
                },
                {
                    "name": "klf1",
                    "type": "synonym"
                },
                {
                    "name": "klfd",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194069",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90XE6-1",
            "evidence": [
                {
                    "id": "0111400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111400"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "EKLF",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klf1",
                    "type": "recommended"
                },
                {
                    "name": "Elkf",
                    "type": "synonym"
                }
            ],
            "record_id": "P46099-1",
            "evidence": [
                {
                    "id": "0111400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111400"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "EKLF",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid krueppel-like transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "erythroid Kruppel-like factor",
                    "type": "synonym"
                },
                {
                    "name": "erythroid krueppel-like transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "erythroid-specific transcription factor EKLF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLF1",
                    "type": "recommended"
                },
                {
                    "name": "CDAN4A",
                    "type": "synonym"
                },
                {
                    "name": "CDAN4B",
                    "type": "synonym"
                },
                {
                    "name": "EKLF/KLF1",
                    "type": "synonym"
                },
                {
                    "name": "EKLF",
                    "type": "synonym"
                },
                {
                    "name": "KLF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13351-1",
            "evidence": [
                {
                    "id": "613673",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613673"
                },
                {
                    "id": "0111400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111400"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klf1",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V6F3-1",
            "evidence": [
                {
                    "id": "0111400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111400"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111400"
}