{
    "disease_id": "DOID:0111993",
    "recommended_name": {
        "id": "DOID:0111993",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111993",
        "name": "immunodeficiency 55",
        "description": "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111993",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111993",
            "name": "IMD55",
            "description": ""
        },
        {
            "id": "DOID:0111993",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111993",
            "name": "combined immunodeficiency due to GINS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "combined immunodeficiency due to GINS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "CID due to GINS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "IMD55",
            "description": ""
        },
        {
            "id": "MIM:617827",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617827",
            "name": "Immunodeficiency 55",
            "description": "Immunodeficiency 55"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111993"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111993",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111993",
            "categories": []
        },
        {
            "id": "MONDO:0044725",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "categories": []
        },
        {
            "id": "MIM:617827",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617827",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CZ15-1",
            "uniprot_ac": "Q9CZ15",
            "uniprot_id": "PSF1_MOUSE",
            "refseq_ac": "NP_081290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication complex GINS protein PSF1",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication complex GINS protein PSF1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication complex GINS protein PSF1",
                    "type": "synonym"
                },
                {
                    "name": "GINS complex subunit 1 (Psf1 homolog)",
                    "type": "synonym"
                },
                {
                    "name": "GINS complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "GINS complex subunit 4 (Sld5 homolog)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gins1",
                    "type": "recommended"
                },
                {
                    "name": "2810418N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gins1",
                    "type": "synonym"
                },
                {
                    "name": "Gins4",
                    "type": "synonym"
                },
                {
                    "name": "PSF1",
                    "type": "synonym"
                },
                {
                    "name": "Psf1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0186",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZ15-1",
            "evidence": [
                {
                    "id": "0111993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14691-1",
            "uniprot_ac": "Q14691",
            "uniprot_id": "PSF1_HUMAN",
            "refseq_ac": "NP_066545",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication complex GINS protein PSF1",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication complex GINS protein PSF1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication complex GINS protein PSF1",
                    "type": "synonym"
                },
                {
                    "name": "GINS complex subunit 1 (Psf1 homolog)",
                    "type": "synonym"
                },
                {
                    "name": "GINS complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "partner of sld five-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GINS1",
                    "type": "recommended"
                },
                {
                    "name": "GINS1",
                    "type": "synonym"
                },
                {
                    "name": "IMD55",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0186",
                    "type": "synonym"
                },
                {
                    "name": "PSF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14691-1",
            "evidence": [
                {
                    "id": "617827",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617827"
                },
                {
                    "id": "0111993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12488-1",
            "uniprot_ac": "Q12488",
            "uniprot_id": "PSF1_YEAST",
            "refseq_ac": "NP_010296",
            "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": "DNA replication complex GINS protein PSF1",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication protein PSF1",
                    "type": "synonym"
                },
                {
                    "name": "Partner of Sld five 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSF1",
                    "type": "recommended"
                },
                {
                    "name": "CDC101",
                    "type": "synonym"
                },
                {
                    "name": "PSF1",
                    "type": "synonym"
                },
                {
                    "name": "PZA208",
                    "type": "synonym"
                },
                {
                    "name": "YD8119.18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12488-1",
            "evidence": [
                {
                    "id": "0111993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M5L5-1",
            "uniprot_ac": "A0ABK0M5L5",
            "uniprot_id": "A0ABK0M5L5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication complex GINS protein PSF1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Gins1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M5L5-1",
            "evidence": [
                {
                    "id": "0111993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0I7-1",
            "uniprot_ac": "Q9W0I7",
            "uniprot_id": "Q9W0I7_DROME",
            "refseq_ac": "NP_612086",
            "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 complex GINS protein PSF1",
                    "type": "recommended"
                },
                {
                    "name": "CG9187-PA",
                    "type": "synonym"
                },
                {
                    "name": "Psf1-PA",
                    "type": "synonym"
                },
                {
                    "name": "partner of Sld five 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psf1",
                    "type": "recommended"
                },
                {
                    "name": "CG9187-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG9187",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9187",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9187",
                    "type": "synonym"
                },
                {
                    "name": "PSF1",
                    "type": "synonym"
                },
                {
                    "name": "Psf1",
                    "type": "synonym"
                },
                {
                    "name": "psf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0I7-1",
            "evidence": [
                {
                    "id": "0111993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111993"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111993"
}