{
    "disease_id": "DOID:0111398",
    "recommended_name": {
        "id": "DOID:0111398",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111398",
        "name": "congenital dyserythropoietic anemia type Ia",
        "description": "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111398",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111398",
            "name": "CDA Ia",
            "description": ""
        },
        {
            "id": "DOID:0111398",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111398",
            "name": "CDAN1A",
            "description": ""
        },
        {
            "id": "MONDO:0009135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009135",
            "name": "anemia, congenital dyserythropoietic, type 1a",
            "description": ""
        },
        {
            "id": "MONDO:0009135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009135",
            "name": "anemia, congenital dyserythropoietic, type 1a",
            "description": ""
        },
        {
            "id": "MONDO:0009135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009135",
            "name": "anemia, congenital dyserythropoietic, type Ia",
            "description": ""
        },
        {
            "id": "MONDO:0009135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009135",
            "name": "CDAN1A",
            "description": ""
        },
        {
            "id": "MIM:224120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224120",
            "name": "Anemia, congenital dyserythropoietic, 1A",
            "description": "Anemia, congenital dyserythropoietic, 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111398"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111398",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111398",
            "categories": []
        },
        {
            "id": "MONDO:0009135",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009135",
            "categories": []
        },
        {
            "id": "MIM:224120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UT82-1",
            "uniprot_ac": "A0A8N7UT82",
            "uniprot_id": "A0A8N7UT82_DANRE",
            "refseq_ac": "XP_693684",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Codanin-1",
                    "type": "synonym"
                },
                {
                    "name": "codanin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdan1",
                    "type": "recommended"
                },
                {
                    "name": "cdan1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UT82-1",
            "evidence": [
                {
                    "id": "0111398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CC12-1",
            "uniprot_ac": "Q8CC12",
            "uniprot_id": "CDAN1_MOUSE",
            "refseq_ac": "NP_081167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Codanin-1",
                    "type": "recommended"
                },
                {
                    "name": "codanin-1",
                    "type": "synonym"
                },
                {
                    "name": "congenital dyserythropoietic anemia type I",
                    "type": "synonym"
                },
                {
                    "name": "congenital dyserythropoietic anemia, type I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdan1",
                    "type": "recommended"
                },
                {
                    "name": "1500015A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "CDA-I",
                    "type": "synonym"
                },
                {
                    "name": "CDA1",
                    "type": "synonym"
                },
                {
                    "name": "CDAI",
                    "type": "synonym"
                },
                {
                    "name": "Cdan1",
                    "type": "synonym"
                },
                {
                    "name": "codanin-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CC12-1",
            "evidence": [
                {
                    "id": "0111398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWY9-2",
            "uniprot_ac": "Q8IWY9",
            "uniprot_id": "CDAN1_HUMAN",
            "refseq_ac": "NP_612486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Codanin-1",
                    "type": "recommended"
                },
                {
                    "name": "codanin-1",
                    "type": "synonym"
                },
                {
                    "name": "congenital dyserythropoietic anemia, type I",
                    "type": "synonym"
                },
                {
                    "name": "discs lost homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDAN1",
                    "type": "recommended"
                },
                {
                    "name": "CDA1",
                    "type": "synonym"
                },
                {
                    "name": "CDAI",
                    "type": "synonym"
                },
                {
                    "name": "CDAN1A",
                    "type": "synonym"
                },
                {
                    "name": "CDAN1",
                    "type": "synonym"
                },
                {
                    "name": "DLT",
                    "type": "synonym"
                },
                {
                    "name": "PRO1295",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWY9-2",
            "evidence": [
                {
                    "id": "224120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224120"
                },
                {
                    "id": "0111398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LK58-1",
            "uniprot_ac": "A0ABK0LK58",
            "uniprot_id": "A0ABK0LK58_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": "Codanin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdan1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LK58-1",
            "evidence": [
                {
                    "id": "0111398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T626-1",
            "uniprot_ac": "Q8T626",
            "uniprot_id": "DLT_DROME",
            "refseq_ac": "NP_728672",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disks lost",
                    "type": "recommended"
                },
                {
                    "name": "CG32315-PA",
                    "type": "synonym"
                },
                {
                    "name": "Codanin 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein vanaso",
                    "type": "synonym"
                },
                {
                    "name": "discs lost",
                    "type": "synonym"
                },
                {
                    "name": "dlt-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)62Ba",
                    "type": "synonym"
                },
                {
                    "name": "vanaso",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlt",
                    "type": "recommended"
                },
                {
                    "name": "CG1977",
                    "type": "synonym"
                },
                {
                    "name": "CG32315",
                    "type": "synonym"
                },
                {
                    "name": "DLT",
                    "type": "synonym"
                },
                {
                    "name": "Discs lost",
                    "type": "synonym"
                },
                {
                    "name": "Dlt",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32315",
                    "type": "synonym"
                },
                {
                    "name": "VA",
                    "type": "synonym"
                },
                {
                    "name": "Van",
                    "type": "synonym"
                },
                {
                    "name": "dlt",
                    "type": "synonym"
                },
                {
                    "name": "dre1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04276",
                    "type": "synonym"
                },
                {
                    "name": "l(3)62Ba",
                    "type": "synonym"
                },
                {
                    "name": "l(3)dre1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T626-1",
            "evidence": [
                {
                    "id": "0111398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111398"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111398"
}