{
    "disease_id": "DOID:0090012",
    "recommended_name": {
        "id": "DOID:0090012",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090012",
        "name": "severe combined immunodeficiency with sensitivity to ionizing radiation",
        "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency due to artemis deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "SCID due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "SCID due to artemis deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "SCID, Athabascan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "SCID, Athabaskan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency, Athabascan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency, Athabaskan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "artemis deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to DCLRE1C deficiency",
            "description": "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "DCLRE1C severe combined immunodeficiency (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID due to ARTEMIS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID due to artemis deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, Athabascan type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, Athabaskan type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to ARTEMIS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to artemis deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency with sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MIM:602450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602450",
            "name": "Severe combined immunodeficiency Athabaskan type",
            "description": "Severe combined immunodeficiency Athabaskan type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090012"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090012",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090012",
            "categories": []
        },
        {
            "id": "MONDO:0011225",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "categories": []
        },
        {
            "id": "MIM:602450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RGE5-1",
            "uniprot_ac": "Q5RGE5",
            "uniprot_id": "DCR1C_DANRE",
            "refseq_ac": "NP_001038566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dclre1c",
                    "type": "recommended"
                },
                {
                    "name": "dclre1c",
                    "type": "synonym"
                },
                {
                    "name": "im:7141637",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-153k10.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136877",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGE5-1",
            "evidence": [
                {
                    "id": "0090012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4J0-1",
            "uniprot_ac": "Q8K4J0",
            "uniprot_id": "DCR1C_MOUSE",
            "refseq_ac": "NP_001103684",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1A, PSO2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C, PSO2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SNM1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mArt",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dclre1c",
                    "type": "recommended"
                },
                {
                    "name": "9930121L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Art",
                    "type": "synonym"
                },
                {
                    "name": "Dclre1c",
                    "type": "synonym"
                },
                {
                    "name": "Snm1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4J0-1",
            "evidence": [
                {
                    "id": "0090012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96SD1-1",
            "uniprot_ac": "Q96SD1",
            "uniprot_id": "DCR1C_HUMAN",
            "refseq_ac": "NP_001029027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein A-SCID",
                    "type": "synonym"
                },
                {
                    "name": "SNM1 homolog C",
                    "type": "synonym"
                },
                {
                    "name": "SNM1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "hSNM1C",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                },
                {
                    "name": "severe combined immunodeficiency, type a (Athabascan)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCLRE1C",
                    "type": "recommended"
                },
                {
                    "name": "A-SCID",
                    "type": "synonym"
                },
                {
                    "name": "ARTEMIS",
                    "type": "synonym"
                },
                {
                    "name": "ASCID",
                    "type": "synonym"
                },
                {
                    "name": "DCLRE1C",
                    "type": "synonym"
                },
                {
                    "name": "DCLREC1C",
                    "type": "synonym"
                },
                {
                    "name": "RS-SCID",
                    "type": "synonym"
                },
                {
                    "name": "SCIDA",
                    "type": "synonym"
                },
                {
                    "name": "SNM1C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96SD1-1",
            "evidence": [
                {
                    "id": "602450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602450"
                },
                {
                    "id": "0090012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49917-1",
            "uniprot_ac": "P49917",
            "uniprot_id": "DNLI4_HUMAN",
            "refseq_ac": "NP_001091738",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 4",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA joinase",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase IV",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                },
                {
                    "name": "ligase IV, DNA, ATP-dependent",
                    "type": "synonym"
                },
                {
                    "name": "polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide ligase",
                    "type": "synonym"
                },
                {
                    "name": "sealase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIG4",
                    "type": "recommended"
                },
                {
                    "name": "LIG4S",
                    "type": "synonym"
                },
                {
                    "name": "LIG4",
                    "type": "synonym"
                }
            ],
            "record_id": "P49917-1",
            "evidence": [
                {
                    "id": "602450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602450"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIX3-1",
            "uniprot_ac": "Q5XIX3",
            "uniprot_id": "DCR1C_RAT",
            "refseq_ac": "NP_671486",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "SNM1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dclre1c",
                    "type": "recommended"
                },
                {
                    "name": "Dclre1c",
                    "type": "synonym"
                },
                {
                    "name": "Snm1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIX3-1",
            "evidence": [
                {
                    "id": "0090012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090012"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090012"
}