{
    "disease_id": "DOID:0111987",
    "recommended_name": {
        "id": "DOID:0111987",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111987",
        "name": "immunodeficiency 13",
        "description": "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111987",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "name": "ICL",
            "description": ""
        },
        {
            "id": "DOID:0111987",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "name": "IMD13",
            "description": ""
        },
        {
            "id": "DOID:0111987",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "name": "idiopathic CD4 lymphopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "idiopathic CD4 lymphocytopenia",
            "description": "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed."
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "immunodeficiency type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "ICL",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "IMD13",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "idiopathic CD4 positive T-lymphocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "immunodeficiency 13",
            "description": ""
        },
        {
            "id": "MIM:615518",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615518",
            "name": "Immunodeficiency 13",
            "description": "Immunodeficiency 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111987"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111987",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "categories": []
        },
        {
            "id": "MONDO:0014226",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "categories": []
        },
        {
            "id": "MIM:615518",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615518",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QE32-1",
            "uniprot_ac": "F1QE32",
            "uniprot_id": "F1QE32_DANRE",
            "refseq_ac": "XP_695204",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc119a1",
                    "type": "recommended"
                },
                {
                    "name": "unc119a1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QE32-1",
            "evidence": [
                {
                    "id": "0111987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2R6-1",
            "uniprot_ac": "Q9Z2R6",
            "uniprot_id": "U119A_MOUSE",
            "refseq_ac": "NP_035806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mRG4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "retinal gene 4",
                    "type": "synonym"
                },
                {
                    "name": "retinal protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc119",
                    "type": "recommended"
                },
                {
                    "name": "D11Bhm52",
                    "type": "synonym"
                },
                {
                    "name": "HRG4",
                    "type": "synonym"
                },
                {
                    "name": "MRG4",
                    "type": "synonym"
                },
                {
                    "name": "Rg4",
                    "type": "synonym"
                },
                {
                    "name": "Rtg4",
                    "type": "synonym"
                },
                {
                    "name": "Unc119h",
                    "type": "synonym"
                },
                {
                    "name": "Unc119",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2R6-1",
            "evidence": [
                {
                    "id": "0111987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13432-1",
            "uniprot_ac": "Q13432",
            "uniprot_id": "U119A_HUMAN",
            "refseq_ac": "NP_001317095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "POC7 centriolar protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "hRG4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A isoform c",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "unc-119 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UNC119",
                    "type": "recommended"
                },
                {
                    "name": "CORD24",
                    "type": "synonym"
                },
                {
                    "name": "HRG4",
                    "type": "synonym"
                },
                {
                    "name": "IMD13",
                    "type": "synonym"
                },
                {
                    "name": "POC7A",
                    "type": "synonym"
                },
                {
                    "name": "POC7",
                    "type": "synonym"
                },
                {
                    "name": "RG4",
                    "type": "synonym"
                },
                {
                    "name": "UNC119",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13432-1",
            "evidence": [
                {
                    "id": "615518",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615518"
                },
                {
                    "id": "0111987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62885-1",
            "uniprot_ac": "Q62885",
            "uniprot_id": "U119A_RAT",
            "refseq_ac": "NP_058884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-119 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Retinal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "UNC-119 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-119 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "rRG4",
                    "type": "synonym"
                },
                {
                    "name": "retinal gene 4",
                    "type": "synonym"
                },
                {
                    "name": "retinal protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc119",
                    "type": "recommended"
                },
                {
                    "name": "RRG4",
                    "type": "synonym"
                },
                {
                    "name": "Rg4",
                    "type": "synonym"
                },
                {
                    "name": "Unc119",
                    "type": "synonym"
                },
                {
                    "name": "Uncl19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62885-1",
            "evidence": [
                {
                    "id": "0111987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XYQ2-1",
            "uniprot_ac": "Q9XYQ2",
            "uniprot_id": "UN119_DROME",
            "refseq_ac": "NP_001284978",
            "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 unc-119 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG1659-PC",
                    "type": "synonym"
                },
                {
                    "name": "DmUNC-119",
                    "type": "synonym"
                },
                {
                    "name": "unc-119, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "unc-119-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-119",
                    "type": "recommended"
                },
                {
                    "name": "CG1659",
                    "type": "synonym"
                },
                {
                    "name": "DmUNC-119",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1659",
                    "type": "synonym"
                },
                {
                    "name": "Unc-119",
                    "type": "synonym"
                },
                {
                    "name": "Unc119",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey123",
                    "type": "synonym"
                },
                {
                    "name": "dm unc-119",
                    "type": "synonym"
                },
                {
                    "name": "unc-119",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XYQ2-1",
            "evidence": [
                {
                    "id": "0111987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111987"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42345-1",
            "uniprot_ac": "P42345",
            "uniprot_id": "MTOR_HUMAN",
            "refseq_ac": "NP_004949",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase mTOR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 12-rapamycin associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 12-rapamycin complex-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-rapamycin associated protein",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12-rapamycin complex-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12-rapamycin complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian target of rapamycin",
                    "type": "synonym"
                },
                {
                    "name": "Mechanistic target of rapamycin",
                    "type": "synonym"
                },
                {
                    "name": "Rapamycin and FKBP12 target 1",
                    "type": "synonym"
                },
                {
                    "name": "Rapamycin target protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase mTOR",
                    "type": "synonym"
                },
                {
                    "name": "mTOR",
                    "type": "synonym"
                },
                {
                    "name": "mammalian target of rapamycin",
                    "type": "synonym"
                },
                {
                    "name": "mechanistic target of rapamycin (serine/threonine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin and FKBP12 target 1",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin associated protein FRAP2",
                    "type": "synonym"
                },
                {
                    "name": "rapamycin target protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase mTOR isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase mTOR",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase mTOR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTOR",
                    "type": "recommended"
                },
                {
                    "name": "FRAP1",
                    "type": "synonym"
                },
                {
                    "name": "FRAP2",
                    "type": "synonym"
                },
                {
                    "name": "FRAP",
                    "type": "synonym"
                },
                {
                    "name": "MTOR",
                    "type": "synonym"
                },
                {
                    "name": "RAFT1",
                    "type": "synonym"
                },
                {
                    "name": "RAPT1",
                    "type": "synonym"
                },
                {
                    "name": "SKS",
                    "type": "synonym"
                }
            ],
            "record_id": "P42345-1",
            "evidence": [
                {
                    "id": "0111987",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111987"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111987"
}