{
    "disease_id": "DOID:0111399",
    "recommended_name": {
        "id": "DOID:0111399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111399",
        "name": "congenital dyserythropoietic anemia type IIIa",
        "description": "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23."
    },
    "synonyms": [
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "CDA III",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "CDA type 3",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "CDA type III",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "CDAN3",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "Congenital dyserythropoietic anaemia type 3",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "Congenital dyserythropoietic anemia type 3",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "anaemia with multinucleated erythroblasts",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "anemia with multinucleated erythroblasts",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "congenital dyserythropoietic anaemia type III",
            "description": ""
        },
        {
            "id": "DOID:0111399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "name": "hereditary benign erythroreticulosis",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "congenital dyserythropoietic anemia type 3",
            "description": "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia."
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "CDA III",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "CDA type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "CDA type III",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "congenital dyserythropoietic anemia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "dyserythropoietic anemia, congenital, type III",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "CDAN3",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "anaemia with multinucleated erythroblasts",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "anemia, congenital dyserythropoietic, type III",
            "description": ""
        },
        {
            "id": "MONDO:0007109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "name": "dyserythropoietic anemia, congenital type 3",
            "description": ""
        },
        {
            "id": "MIM:105600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105600",
            "name": "Anemia, congenital dyserythropoietic, 3A",
            "description": "Anemia, congenital dyserythropoietic, 3A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111399"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111399",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111399",
            "categories": []
        },
        {
            "id": "MONDO:0007109",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007109",
            "categories": []
        },
        {
            "id": "MIM:105600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PLX5-1",
            "uniprot_ac": "A0A8M9PLX5",
            "uniprot_id": "A0A8M9PLX5_DANRE",
            "refseq_ac": "XP_021323261",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF23 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif23",
                    "type": "recommended"
                },
                {
                    "name": "cb738",
                    "type": "synonym"
                },
                {
                    "name": "kif23",
                    "type": "synonym"
                },
                {
                    "name": "knsl5",
                    "type": "synonym"
                },
                {
                    "name": "mklp1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi30e02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi39f08",
                    "type": "synonym"
                },
                {
                    "name": "zMKLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PLX5-1",
            "evidence": [
                {
                    "id": "0111399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q5G3-1",
            "uniprot_ac": "E9Q5G3",
            "uniprot_id": "KIF23_MOUSE",
            "refseq_ac": "NP_077207",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF23",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like 5 (mitotic kinesin-like protein 1)",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF23 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif23",
                    "type": "recommended"
                },
                {
                    "name": "3110001D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "CHO1",
                    "type": "synonym"
                },
                {
                    "name": "Kif23",
                    "type": "synonym"
                },
                {
                    "name": "Knsl5",
                    "type": "synonym"
                },
                {
                    "name": "MKLP-1",
                    "type": "synonym"
                },
                {
                    "name": "MKLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q5G3-1",
            "evidence": [
                {
                    "id": "0111399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02241-1",
            "uniprot_ac": "Q02241",
            "uniprot_id": "KIF23_HUMAN",
            "refseq_ac": "NP_004847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF23",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic kinesin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "congenital dyserythropoietic anemia, type III",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like 5 (mitotic kinesin-like protein 1)",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF23 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF23",
                    "type": "recommended"
                },
                {
                    "name": "CDA3",
                    "type": "synonym"
                },
                {
                    "name": "CDAIII",
                    "type": "synonym"
                },
                {
                    "name": "CDAN3A",
                    "type": "synonym"
                },
                {
                    "name": "CDAN3",
                    "type": "synonym"
                },
                {
                    "name": "CHO1",
                    "type": "synonym"
                },
                {
                    "name": "KIF23",
                    "type": "synonym"
                },
                {
                    "name": "KNSL5",
                    "type": "synonym"
                },
                {
                    "name": "MKLP-1",
                    "type": "synonym"
                },
                {
                    "name": "MKLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02241-1",
            "evidence": [
                {
                    "id": "105600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105600"
                },
                {
                    "id": "0111399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GJ20-1",
            "uniprot_ac": "A0A8I6GJ20",
            "uniprot_id": "A0A8I6GJ20_RAT",
            "refseq_ac": "XP_038937412",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF23",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF23 isoform X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif23",
                    "type": "recommended"
                },
                {
                    "name": "Kif23",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GJ20-1",
            "evidence": [
                {
                    "id": "0111399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZF5-1",
            "uniprot_ac": "Q9VZF5",
            "uniprot_id": "Q9VZF5_DROME",
            "refseq_ac": "NP_477025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG1258-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-6",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin6",
                    "type": "synonym"
                },
                {
                    "name": "Pavarotti-KLP",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-2A12",
                    "type": "synonym"
                },
                {
                    "name": "mitotic kinesin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pav-PA",
                    "type": "synonym"
                },
                {
                    "name": "pavarotti KLP",
                    "type": "synonym"
                },
                {
                    "name": "pavarotti kinesin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "pavarotti",
                    "type": "synonym"
                },
                {
                    "name": "pavarroti",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pav",
                    "type": "recommended"
                },
                {
                    "name": "08",
                    "type": "synonym"
                },
                {
                    "name": "0934/13",
                    "type": "synonym"
                },
                {
                    "name": "0973/08",
                    "type": "synonym"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "2A12MEL",
                    "type": "synonym"
                },
                {
                    "name": "2A12",
                    "type": "synonym"
                },
                {
                    "name": "CG1258",
                    "type": "synonym"
                },
                {
                    "name": "DmKLP1/pav",
                    "type": "synonym"
                },
                {
                    "name": "DmMKLP1",
                    "type": "synonym"
                },
                {
                    "name": "DmPAV",
                    "type": "synonym"
                },
                {
                    "name": "DmPav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1258",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1258",
                    "type": "synonym"
                },
                {
                    "name": "KIF 23",
                    "type": "synonym"
                },
                {
                    "name": "KIF23",
                    "type": "synonym"
                },
                {
                    "name": "KLP",
                    "type": "synonym"
                },
                {
                    "name": "MKLP1",
                    "type": "synonym"
                },
                {
                    "name": "Mklp1",
                    "type": "synonym"
                },
                {
                    "name": "PAV-KLP",
                    "type": "synonym"
                },
                {
                    "name": "PAV-MKLP",
                    "type": "synonym"
                },
                {
                    "name": "PAV/KLP",
                    "type": "synonym"
                },
                {
                    "name": "PAV",
                    "type": "synonym"
                },
                {
                    "name": "Pav KLP",
                    "type": "synonym"
                },
                {
                    "name": "Pav-KLP",
                    "type": "synonym"
                },
                {
                    "name": "Pav-Klp",
                    "type": "synonym"
                },
                {
                    "name": "Pav-klp",
                    "type": "synonym"
                },
                {
                    "name": "PavKLP",
                    "type": "synonym"
                },
                {
                    "name": "Pav",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe2A12",
                    "type": "synonym"
                },
                {
                    "name": "anon2A12",
                    "type": "synonym"
                },
                {
                    "name": "group D",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-6",
                    "type": "synonym"
                },
                {
                    "name": "pav-KLP",
                    "type": "synonym"
                },
                {
                    "name": "pav-Klp",
                    "type": "synonym"
                },
                {
                    "name": "pav",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZF5-1",
            "evidence": [
                {
                    "id": "0111399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111399"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111399"
}