{
    "disease_id": "DOID:0111970",
    "recommended_name": {
        "id": "DOID:0111970",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111970",
        "name": "immunodeficiency 10",
        "description": "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4."
    },
    "synonyms": [
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111970",
            "name": "immune dysfunction with T-cell inactivation due to calcium entry defect 2",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111970",
            "name": "CID due to STIM1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111970",
            "name": "IMD10",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111970",
            "name": "STIM1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111970",
            "name": "combined immunodeficiency due to STIM1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "combined immunodeficiency due to STIM1 deficiency",
            "description": "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "CID due to STIM1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "immunodeficiency type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "IMD10",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "immunodeficiency 10",
            "description": ""
        },
        {
            "id": "MIM:612783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612783",
            "name": "Immunodeficiency 10",
            "description": "Immunodeficiency 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111970"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111970",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111970",
            "categories": []
        },
        {
            "id": "MONDO:0013008",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "categories": []
        },
        {
            "id": "MIM:612783",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612783",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58I7Q6-1",
            "uniprot_ac": "A0AC58I7Q6",
            "uniprot_id": "A0AC58I7Q6_DANRE",
            "refseq_ac": "XP_073790261",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stromal interaction molecule 1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "stromal interaction molecule 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stim1b",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-112l17.2",
                    "type": "synonym"
                },
                {
                    "name": "stim1b",
                    "type": "synonym"
                },
                {
                    "name": "stim1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I7Q6-1",
            "evidence": [
                {
                    "id": "0111970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BKP3-1",
            "uniprot_ac": "A0A8M2BKP3",
            "uniprot_id": "A0A8M2BKP3_DANRE",
            "refseq_ac": "XP_005173449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stromal interaction molecule 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "stromal interaction molecule 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stim1a",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-24p1.5",
                    "type": "synonym"
                },
                {
                    "name": "stim1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BKP3-1",
            "evidence": [
                {
                    "id": "0111970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70302-1",
            "uniprot_ac": "P70302",
            "uniprot_id": "STIM1_MOUSE",
            "refseq_ac": "NP_033313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stromal interaction molecule 1",
                    "type": "recommended"
                },
                {
                    "name": "stromal interaction molecule 1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stim1",
                    "type": "recommended"
                },
                {
                    "name": "SIM",
                    "type": "synonym"
                },
                {
                    "name": "Sim",
                    "type": "synonym"
                },
                {
                    "name": "Stim1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70302-1",
            "evidence": [
                {
                    "id": "0111970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13586-1",
            "uniprot_ac": "Q13586",
            "uniprot_id": "STIM1_HUMAN",
            "refseq_ac": "NP_001264891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stromal interaction molecule 1",
                    "type": "recommended"
                },
                {
                    "name": "stromal interaction molecule 1 isoform 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STIM1",
                    "type": "recommended"
                },
                {
                    "name": "D11S4896E",
                    "type": "synonym"
                },
                {
                    "name": "GOK",
                    "type": "synonym"
                },
                {
                    "name": "IMD10",
                    "type": "synonym"
                },
                {
                    "name": "STIM1",
                    "type": "synonym"
                },
                {
                    "name": "STRMK",
                    "type": "synonym"
                },
                {
                    "name": "TAM1",
                    "type": "synonym"
                },
                {
                    "name": "TAM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13586-1",
            "evidence": [
                {
                    "id": "612783",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612783"
                },
                {
                    "id": "0111970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84903-1",
            "uniprot_ac": "P84903",
            "uniprot_id": "STIM1_RAT",
            "refseq_ac": "NP_001101966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stromal interaction molecule 1",
                    "type": "recommended"
                },
                {
                    "name": "stromal interaction molecule 1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stim1",
                    "type": "recommended"
                },
                {
                    "name": "Sim",
                    "type": "synonym"
                },
                {
                    "name": "Stim1",
                    "type": "synonym"
                }
            ],
            "record_id": "P84903-1",
            "evidence": [
                {
                    "id": "0111970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83094-1",
            "uniprot_ac": "P83094",
            "uniprot_id": "STIM_DROME",
            "refseq_ac": "NP_523357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stromal interaction molecule homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG9126-PA",
                    "type": "synonym"
                },
                {
                    "name": "Stim-PA",
                    "type": "synonym"
                },
                {
                    "name": "drosophila stromal interaction molecule",
                    "type": "synonym"
                },
                {
                    "name": "stromal interaction molecule 1",
                    "type": "synonym"
                },
                {
                    "name": "stromal interaction molecule, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "stromal interaction molecule",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stim",
                    "type": "recommended"
                },
                {
                    "name": "C-Stim",
                    "type": "synonym"
                },
                {
                    "name": "CG9126",
                    "type": "synonym"
                },
                {
                    "name": "D-STIM",
                    "type": "synonym"
                },
                {
                    "name": "D-Stim",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9126",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9126",
                    "type": "synonym"
                },
                {
                    "name": "STIM1",
                    "type": "synonym"
                },
                {
                    "name": "STIM",
                    "type": "synonym"
                },
                {
                    "name": "Stim",
                    "type": "synonym"
                },
                {
                    "name": "dSTIM",
                    "type": "synonym"
                },
                {
                    "name": "dStim",
                    "type": "synonym"
                },
                {
                    "name": "dstim",
                    "type": "synonym"
                },
                {
                    "name": "stim1",
                    "type": "synonym"
                },
                {
                    "name": "stim",
                    "type": "synonym"
                }
            ],
            "record_id": "P83094-1",
            "evidence": [
                {
                    "id": "0111970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111970"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111970"
}