{
    "disease_id": "DOID:0111984",
    "recommended_name": {
        "id": "DOID:0111984",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111984",
        "name": "immunodeficiency 58",
        "description": "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111984",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111984",
            "name": "IMD58",
            "description": ""
        },
        {
            "id": "DOID:0111984",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111984",
            "name": "severe combined immunodeficiency due to CARMIL2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0029134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029134",
            "name": "severe combined immunodeficiency due to CARMIL2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0029134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029134",
            "name": "immunodeficiency 58",
            "description": ""
        },
        {
            "id": "MONDO:0029134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029134",
            "name": "IMD58",
            "description": ""
        },
        {
            "id": "MIM:618131",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618131",
            "name": "Immunodeficiency 58",
            "description": "Immunodeficiency 58"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111984"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111984",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111984",
            "categories": []
        },
        {
            "id": "MONDO:0029134",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029134",
            "categories": []
        },
        {
            "id": "MIM:618131",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618131",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3V3V9-1",
            "uniprot_ac": "Q3V3V9",
            "uniprot_id": "CARL2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Capping protein, Arp2/3 and myosin-I linker protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Capping protein regulator and myosin 1 linker 2",
                    "type": "synonym"
                },
                {
                    "name": "F-actin-uncapping protein RLTPR",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 16C",
                    "type": "synonym"
                },
                {
                    "name": "RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Carmil2",
                    "type": "recommended"
                },
                {
                    "name": "Lrrc16c",
                    "type": "synonym"
                },
                {
                    "name": "Rltpr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V3V9-1",
            "evidence": [
                {
                    "id": "0111984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6F5E8-1",
            "uniprot_ac": "Q6F5E8",
            "uniprot_id": "CARL2_HUMAN",
            "refseq_ac": "NP_001013860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Capping protein, Arp2/3 and myosin-I linker protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Capping protein regulator and myosin 1 linker 2",
                    "type": "synonym"
                },
                {
                    "name": "F-actin-uncapping protein RLTPR",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 16C",
                    "type": "synonym"
                },
                {
                    "name": "RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing",
                    "type": "synonym"
                },
                {
                    "name": "RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein",
                    "type": "synonym"
                },
                {
                    "name": "RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "capping protein, Arp2/3 and myosin-I linker protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "capping protein, Arp2/3 and myosin-I linker protein 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 16C",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 16C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CARMIL2",
                    "type": "recommended"
                },
                {
                    "name": "CARMIL2b",
                    "type": "synonym"
                },
                {
                    "name": "CARMIL2",
                    "type": "synonym"
                },
                {
                    "name": "IMD58",
                    "type": "synonym"
                },
                {
                    "name": "LRRC16C",
                    "type": "synonym"
                },
                {
                    "name": "RLTPR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6F5E8-1",
            "evidence": [
                {
                    "id": "618131",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618131"
                },
                {
                    "id": "0111984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZC15-1",
            "uniprot_ac": "D3ZC15",
            "uniprot_id": "D3ZC15_RAT",
            "refseq_ac": "NP_001418246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Capping protein regulator and myosin 1 linker 2",
                    "type": "synonym"
                },
                {
                    "name": "RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing",
                    "type": "synonym"
                },
                {
                    "name": "capping protein regulator and myosin 1 linker 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "capping protein, Arp2/3 and myosin-I linker protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Carmil2",
                    "type": "recommended"
                },
                {
                    "name": "Carmil2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562390",
                    "type": "synonym"
                },
                {
                    "name": "Rltpr",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZC15-1",
            "evidence": [
                {
                    "id": "0111984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KEE7-1",
            "uniprot_ac": "A0A0B4KEE7",
            "uniprot_id": "A0A0B4KEE7_DROME",
            "refseq_ac": "NP_001260788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1399-PF",
                    "type": "synonym"
                },
                {
                    "name": "LRR-PF",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "dcarmil",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRR",
                    "type": "recommended"
                },
                {
                    "name": "CG1399",
                    "type": "synonym"
                },
                {
                    "name": "CG1576",
                    "type": "synonym"
                },
                {
                    "name": "Carmil",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1399",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\LRR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1399",
                    "type": "synonym"
                },
                {
                    "name": "LRR",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KEE7-1",
            "evidence": [
                {
                    "id": "0111984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111984"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111984"
}