{
    "disease_id": "DOID:0061051",
    "recommended_name": {
        "id": "DOID:0061051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061051",
        "name": "immunodeficiency 80",
        "description": "A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13."
    },
    "synonyms": [
        {
            "id": "DOID:0061051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061051",
            "name": "immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency 80 with or without congenital cardiomyopathy",
            "description": "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported."
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "IMD80",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "MCM10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency 80 with or without cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency 80 with or without congenital cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency with or without congenital cardiomyopathy",
            "description": ""
        },
        {
            "id": "MIM:619313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619313",
            "name": "Immunodeficiency 80 with or without congenital cardiomyopathy",
            "description": "Immunodeficiency 80 with or without congenital cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061051"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061051",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061051",
            "categories": []
        },
        {
            "id": "MONDO:0030266",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "categories": []
        },
        {
            "id": "MIM:619313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RHY1-1",
            "uniprot_ac": "Q5RHY1",
            "uniprot_id": "MCM10_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MCM10 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "mcm10",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-206k18.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RHY1-1",
            "evidence": [
                {
                    "id": "0061051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0VBD2-1",
            "uniprot_ac": "Q0VBD2",
            "uniprot_id": "MCM10_MOUSE",
            "refseq_ac": "NP_001292188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MCM10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "minichromosome maintenance deficient 10",
                    "type": "synonym"
                },
                {
                    "name": "protein MCM10 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm10",
                    "type": "recommended"
                },
                {
                    "name": "2410041F14Rik",
                    "type": "synonym"
                },
                {
                    "name": "C330019M07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mcm10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VBD2-1",
            "evidence": [
                {
                    "id": "0061051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L590-1",
            "uniprot_ac": "Q7L590",
            "uniprot_id": "MCM10_HUMAN",
            "refseq_ac": "NP_060988",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MCM10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "HsMCM10",
                    "type": "synonym"
                },
                {
                    "name": "MCM10 minichromosome maintenance deficient 10",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast MCM10",
                    "type": "synonym"
                },
                {
                    "name": "hsMCM10",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance complex component 10",
                    "type": "synonym"
                },
                {
                    "name": "protein MCM10 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein MCM10 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM10",
                    "type": "recommended"
                },
                {
                    "name": "CNA43",
                    "type": "synonym"
                },
                {
                    "name": "DNA43",
                    "type": "synonym"
                },
                {
                    "name": "IMD80",
                    "type": "synonym"
                },
                {
                    "name": "MCM10",
                    "type": "synonym"
                },
                {
                    "name": "PRO2249",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L590-1",
            "evidence": [
                {
                    "id": "619313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619313"
                },
                {
                    "id": "0061051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32354-1",
            "uniprot_ac": "P32354",
            "uniprot_id": "MCM10_YEAST",
            "refseq_ac": "NP_012116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Minichromosome maintenance protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Mcm10p",
                    "type": "synonym"
                },
                {
                    "name": "Protein DNA43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM10",
                    "type": "recommended"
                },
                {
                    "name": "DNA43",
                    "type": "synonym"
                },
                {
                    "name": "MCM10",
                    "type": "synonym"
                }
            ],
            "record_id": "P32354-1",
            "evidence": [
                {
                    "id": "0061051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8C4-1",
            "uniprot_ac": "D3Z8C4",
            "uniprot_id": "D3Z8C4_RAT",
            "refseq_ac": "NP_001100836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MCM10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "minichromosome maintenance complex component 10",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 10",
                    "type": "synonym"
                },
                {
                    "name": "protein MCM10 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm10",
                    "type": "recommended"
                },
                {
                    "name": "Mcm10",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8C4-1",
            "evidence": [
                {
                    "id": "0061051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIE6-1",
            "uniprot_ac": "Q9VIE6",
            "uniprot_id": "MCM10_DROME",
            "refseq_ac": "NP_610097",
            "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 MCM10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG9241-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mcm10-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sensitized chromosome inheritance modifier 19",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance 10",
                    "type": "synonym"
                },
                {
                    "name": "sensitized chromosome inheritance modifier 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm10",
                    "type": "recommended"
                },
                {
                    "name": "CG9241",
                    "type": "synonym"
                },
                {
                    "name": "DmMCM10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9241",
                    "type": "synonym"
                },
                {
                    "name": "MCM10",
                    "type": "synonym"
                },
                {
                    "name": "Mcm10",
                    "type": "synonym"
                },
                {
                    "name": "Scim19",
                    "type": "synonym"
                },
                {
                    "name": "dMcm10",
                    "type": "synonym"
                },
                {
                    "name": "mcm10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIE6-1",
            "evidence": [
                {
                    "id": "0061051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061051"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061051"
}