{
    "disease_id": "DOID:0111934",
    "recommended_name": {
        "id": "DOID:0111934",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111934",
        "name": "immunodeficiency 38",
        "description": "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111934",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111934",
            "name": "IMD38",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111934",
            "name": "immunodeficiency 38 with basal ganglia calcification",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111934",
            "name": "autosomal recessive ISG15 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111934",
            "name": "immunodeficiency 38, mycobacteriosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",
            "description": "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections."
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "MSMD due to complete ISG15 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "IMD38",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "immunodeficiency 38 with basal ganglia calcification",
            "description": ""
        },
        {
            "id": "MIM:616126",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616126",
            "name": "Immunodeficiency 38, with basal ganglia calcification",
            "description": "Immunodeficiency 38, with basal ganglia calcification"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111934"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111934",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111934",
            "categories": []
        },
        {
            "id": "MONDO:0014502",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "categories": []
        },
        {
            "id": "MIM:616126",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616126",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BHB8-1",
            "uniprot_ac": "A2BHB8",
            "uniprot_id": "A2BHB8_DANRE",
            "refseq_ac": "NP_001191098",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like protein ISG15",
                    "type": "synonym"
                },
                {
                    "name": "interferon stimulated gene, 15 kDa",
                    "type": "synonym"
                },
                {
                    "name": "interferon, alpha-inducible protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein ISG15",
                    "type": "synonym"
                },
                {
                    "name": "zfISG15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "isg15",
                    "type": "recommended"
                },
                {
                    "name": "g1p2",
                    "type": "synonym"
                },
                {
                    "name": "isg15",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1c23.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BHB8-1",
            "evidence": [
                {
                    "id": "0111934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64339-1",
            "uniprot_ac": "Q64339",
            "uniprot_id": "ISG15_MOUSE",
            "refseq_ac": "NP_056598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like protein ISG15",
                    "type": "recommended"
                },
                {
                    "name": "IP17",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-induced 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-induced 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin cross-reactive protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon, alpha-inducible protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced 15-KDa protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated protein (15 kDa)",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated protein 15",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin cross-reactive protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein ISG15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isg15",
                    "type": "recommended"
                },
                {
                    "name": "100038882",
                    "type": "synonym"
                },
                {
                    "name": "G1p2",
                    "type": "synonym"
                },
                {
                    "name": "IGI15",
                    "type": "synonym"
                },
                {
                    "name": "IP17",
                    "type": "synonym"
                },
                {
                    "name": "Irfp",
                    "type": "synonym"
                },
                {
                    "name": "Isg15",
                    "type": "synonym"
                },
                {
                    "name": "UCRP",
                    "type": "synonym"
                },
                {
                    "name": "Ucrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64339-1",
            "evidence": [
                {
                    "id": "0111934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05161-1",
            "uniprot_ac": "P05161",
            "uniprot_id": "ISG15_HUMAN",
            "refseq_ac": "NP_005092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like protein ISG15",
                    "type": "recommended"
                },
                {
                    "name": "IP17",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-induced 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-induced 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin cross-reactive protein",
                    "type": "synonym"
                },
                {
                    "name": "hUCRP",
                    "type": "synonym"
                },
                {
                    "name": "interferon, alpha-inducible protein (clone IFI-15K)",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced 17-kDa/15-kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon-stimulated protein, 15 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin cross-reactive protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein ISG15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ISG15",
                    "type": "recommended"
                },
                {
                    "name": "G1P2",
                    "type": "synonym"
                },
                {
                    "name": "IFI15",
                    "type": "synonym"
                },
                {
                    "name": "IMD38",
                    "type": "synonym"
                },
                {
                    "name": "IP17",
                    "type": "synonym"
                },
                {
                    "name": "ISG15",
                    "type": "synonym"
                },
                {
                    "name": "UCRP",
                    "type": "synonym"
                },
                {
                    "name": "hUCRP",
                    "type": "synonym"
                }
            ],
            "record_id": "P05161-1",
            "evidence": [
                {
                    "id": "616126",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616126"
                },
                {
                    "id": "0111934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3X3-1",
            "uniprot_ac": "D4A3X3",
            "uniprot_id": "D4A3X3_RAT",
            "refseq_ac": "NP_001100170",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like protein ISG15",
                    "type": "recommended"
                },
                {
                    "name": "Interferon-induced 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-induced 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin cross-reactive protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon, alpha-inducible protein (clone IFI-15K)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein ISG15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isg15",
                    "type": "recommended"
                },
                {
                    "name": "G1p2",
                    "type": "synonym"
                },
                {
                    "name": "Isg15",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A3X3-1",
            "evidence": [
                {
                    "id": "0111934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111934"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111934"
}