{
    "disease_id": "DOID:0111397",
    "recommended_name": {
        "id": "DOID:0111397",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111397",
        "name": "congenital dyserythropoietic anemia type Ib",
        "description": "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0111397",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111397",
            "name": "CDA, type Ib",
            "description": ""
        },
        {
            "id": "DOID:0111397",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111397",
            "name": "CDAN1B",
            "description": ""
        },
        {
            "id": "MONDO:0014285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014285",
            "name": "congenital dyserythropoietic anemia type type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0014285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014285",
            "name": "anemia, congenital dyserythropoietic, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0014285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014285",
            "name": "congenital dyserythropoietic anemia type type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0014285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014285",
            "name": "dyserythropoietic anemia, congenital, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0014285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014285",
            "name": "CDAN1B",
            "description": ""
        },
        {
            "id": "MIM:615631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615631",
            "name": "Anemia, congenital dyserythropoietic, 1B",
            "description": "Anemia, congenital dyserythropoietic, 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111397"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111397",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111397",
            "categories": []
        },
        {
            "id": "MONDO:0014285",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014285",
            "categories": []
        },
        {
            "id": "MIM:615631",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615631",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08BW6-1",
            "uniprot_ac": "Q08BW6",
            "uniprot_id": "CDIN1_DANRE",
            "refseq_ac": "NP_001070190",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDAN1-interacting nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "CDAN1-interacting nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C15orf41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdin1",
                    "type": "recommended"
                },
                {
                    "name": "cdin1",
                    "type": "synonym"
                },
                {
                    "name": "fb38f07",
                    "type": "synonym"
                },
                {
                    "name": "fb44c11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb38f07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb44c11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154061",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08BW6-1",
            "evidence": [
                {
                    "id": "0111397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U4G0-1",
            "uniprot_ac": "Q3U4G0",
            "uniprot_id": "CDIN1_MOUSE",
            "refseq_ac": "NP_001139370",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDAN1-interacting nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "CDAN1-interacting nuclease 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C15orf41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdin1",
                    "type": "recommended"
                },
                {
                    "name": "BC052040",
                    "type": "synonym"
                },
                {
                    "name": "Cdin1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U4G0-1",
            "evidence": [
                {
                    "id": "0111397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2V0-1",
            "uniprot_ac": "Q9Y2V0",
            "uniprot_id": "CDIN1_HUMAN",
            "refseq_ac": "NP_001123482",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDAN1-interacting nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "CDAN1-interacting nuclease 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein HH114",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C15orf41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDIN1",
                    "type": "recommended"
                },
                {
                    "name": "C15orf41",
                    "type": "synonym"
                },
                {
                    "name": "CDIN1",
                    "type": "synonym"
                },
                {
                    "name": "HH114",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2V0-1",
            "evidence": [
                {
                    "id": "615631",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615631"
                },
                {
                    "id": "0111397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYC4-1",
            "uniprot_ac": "D3ZYC4",
            "uniprot_id": "D3ZYC4_RAT",
            "refseq_ac": "NP_001386420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDAN1-interacting nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "CDAN1-interacting nuclease 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C15orf41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdin1",
                    "type": "recommended"
                },
                {
                    "name": "Cdin1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563680",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYC4-1",
            "evidence": [
                {
                    "id": "0111397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111397"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUU6-1",
            "uniprot_ac": "Q9VUU6",
            "uniprot_id": "Q9VUU6_DROME",
            "refseq_ac": "NP_648806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDAN1-interacting nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "CG12713-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12713",
                    "type": "recommended"
                },
                {
                    "name": "CG12713",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12713",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12713",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUU6-1",
            "evidence": [
                {
                    "id": "0111397",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111397"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111397"
}