{
    "disease_id": "DOID:0111967",
    "recommended_name": {
        "id": "DOID:0111967",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111967",
        "name": "immunodeficiency 54",
        "description": "A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "IMD54",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "NKCD",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "familial isolated natural killer cell deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "primary immunodeficiency due to MCM4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",
            "description": "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21."
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "mini-chromosome maintenance 4",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "primary immunodeficiency due to MCM4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "IMD54",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "NKGCD",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "natural KILLER cell and glucocorticoid deficiency with DNA repair defect",
            "description": ""
        },
        {
            "id": "MIM:609981",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609981",
            "name": "Immunodeficiency 54",
            "description": "Immunodeficiency 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111967"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111967",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "categories": []
        },
        {
            "id": "MONDO:0012383",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "categories": []
        },
        {
            "id": "MIM:609981",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609981",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P49717-1",
            "uniprot_ac": "P49717",
            "uniprot_id": "MCM4_MOUSE",
            "refseq_ac": "NP_032591",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CDC21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC21",
                    "type": "synonym"
                },
                {
                    "name": "mini chromosome maintenance deficient 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm4",
                    "type": "recommended"
                },
                {
                    "name": "19G",
                    "type": "synonym"
                },
                {
                    "name": "Cdc21",
                    "type": "synonym"
                },
                {
                    "name": "Mcm4",
                    "type": "synonym"
                },
                {
                    "name": "Mcmd4",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4003",
                    "type": "synonym"
                },
                {
                    "name": "mcdc21",
                    "type": "synonym"
                }
            ],
            "record_id": "P49717-1",
            "evidence": [
                {
                    "id": "0111967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33991-1",
            "uniprot_ac": "P33991",
            "uniprot_id": "MCM4_HUMAN",
            "refseq_ac": "NP_005905",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CDC21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC21",
                    "type": "synonym"
                },
                {
                    "name": "homolog of S. pombe cell devision cycle 21",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM4",
                    "type": "recommended"
                },
                {
                    "name": "CDC21",
                    "type": "synonym"
                },
                {
                    "name": "CDC54",
                    "type": "synonym"
                },
                {
                    "name": "IMD54",
                    "type": "synonym"
                },
                {
                    "name": "MCM4",
                    "type": "synonym"
                },
                {
                    "name": "NKCD",
                    "type": "synonym"
                },
                {
                    "name": "NKGCD",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC21",
                    "type": "synonym"
                },
                {
                    "name": "hCdc21",
                    "type": "synonym"
                }
            ],
            "record_id": "P33991-1",
            "evidence": [
                {
                    "id": "609981",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609981"
                },
                {
                    "id": "0111967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30665-1",
            "uniprot_ac": "P30665",
            "uniprot_id": "MCM4_YEAST",
            "refseq_ac": "NP_015344",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control protein 54",
                    "type": "synonym"
                },
                {
                    "name": "MCM DNA helicase complex subunit MCM4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM4",
                    "type": "recommended"
                },
                {
                    "name": "CDC54",
                    "type": "synonym"
                },
                {
                    "name": "HCD21",
                    "type": "synonym"
                },
                {
                    "name": "MCM4",
                    "type": "synonym"
                },
                {
                    "name": "YP9531.13",
                    "type": "synonym"
                }
            ],
            "record_id": "P30665-1",
            "evidence": [
                {
                    "id": "0111967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V681-1",
            "uniprot_ac": "G3V681",
            "uniprot_id": "G3V681_RAT",
            "refseq_ac": "NP_387500",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "synonym"
                },
                {
                    "name": "mini chromosome maintenance deficient 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm4",
                    "type": "recommended"
                },
                {
                    "name": "Mcm4",
                    "type": "synonym"
                },
                {
                    "name": "Mcmd4",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V681-1",
            "evidence": [
                {
                    "id": "0111967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q26454-1",
            "uniprot_ac": "Q26454",
            "uniprot_id": "MCM4_DROME",
            "refseq_ac": "NP_001286160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CG1616-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein disc proliferation abnormal",
                    "type": "synonym"
                },
                {
                    "name": "disc proliferation abnormal, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "disc proliferation abnormal",
                    "type": "synonym"
                },
                {
                    "name": "dpa-PB",
                    "type": "synonym"
                },
                {
                    "name": "drosophila proliferation abnormal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpa",
                    "type": "recommended"
                },
                {
                    "name": "43Ca",
                    "type": "synonym"
                },
                {
                    "name": "CG1616",
                    "type": "synonym"
                },
                {
                    "name": "DPA",
                    "type": "synonym"
                },
                {
                    "name": "DmMCM4",
                    "type": "synonym"
                },
                {
                    "name": "DmMcm4",
                    "type": "synonym"
                },
                {
                    "name": "DmeMCM4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1616",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1616",
                    "type": "synonym"
                },
                {
                    "name": "Dpa",
                    "type": "synonym"
                },
                {
                    "name": "MCM4_DROME",
                    "type": "synonym"
                },
                {
                    "name": "MCM4",
                    "type": "synonym"
                },
                {
                    "name": "Mcm4",
                    "type": "synonym"
                },
                {
                    "name": "dpa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)43Ca",
                    "type": "synonym"
                },
                {
                    "name": "mcm4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q26454-1",
            "evidence": [
                {
                    "id": "0111967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111967"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86Y01-1",
            "uniprot_ac": "Q86Y01",
            "uniprot_id": "DTX1_HUMAN",
            "refseq_ac": "NP_004407",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase DTX1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Deltex1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase DTX1",
                    "type": "synonym"
                },
                {
                    "name": "Protein deltex-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase DTX1",
                    "type": "synonym"
                },
                {
                    "name": "deltex 1, E3 ubiquitin ligase",
                    "type": "synonym"
                },
                {
                    "name": "deltex homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "hDTX1",
                    "type": "synonym"
                },
                {
                    "name": "protein deltex-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DTX1",
                    "type": "recommended"
                },
                {
                    "name": "DTX1",
                    "type": "synonym"
                },
                {
                    "name": "RNF140",
                    "type": "synonym"
                },
                {
                    "name": "hDx-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86Y01-1",
            "evidence": [
                {
                    "id": "0111967",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111967"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111967"
}