{
    "disease_id": "DOID:0111976",
    "recommended_name": {
        "id": "DOID:0111976",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111976",
        "name": "immunodeficiency 9",
        "description": "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111976",
            "name": "CID due to ORAI1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111976",
            "name": "IMD9",
            "description": ""
        },
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111976",
            "name": "combined immunodeficiency due to ORAI1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111976",
            "name": "immune dysfunction with T-cell inactivation due to calcium entry defect 1",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "combined immunodeficiency due to ORAI1 deficiency",
            "description": "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "CID due to ORAI1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "immunodeficiency type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "IMD9",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "immunodeficiency 9",
            "description": ""
        },
        {
            "id": "MIM:612782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612782",
            "name": "Immunodeficiency 9",
            "description": "Immunodeficiency 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111976"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111976",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111976",
            "categories": []
        },
        {
            "id": "MONDO:0013007",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "categories": []
        },
        {
            "id": "MIM:612782",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612782",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7L6-1",
            "uniprot_ac": "A0ACD6B7L6",
            "uniprot_id": "A0ACD6B7L6_DANRE",
            "refseq_ac": "XP_695046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 142A",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "orai1a",
                    "type": "recommended"
                },
                {
                    "name": "orai1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7L6-1",
            "evidence": [
                {
                    "id": "0111976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6TLE6-1",
            "uniprot_ac": "Q6TLE6",
            "uniprot_id": "CRCM1_DANRE",
            "refseq_ac": "NP_991163",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ORAI calcium release-activated calcium modulator 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 142A",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 142A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "orai1",
                    "type": "recommended"
                },
                {
                    "name": "im:7146264",
                    "type": "synonym"
                },
                {
                    "name": "orai1b",
                    "type": "synonym"
                },
                {
                    "name": "orai1",
                    "type": "synonym"
                },
                {
                    "name": "tmem142a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109721",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TLE6-1",
            "evidence": [
                {
                    "id": "0111976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWG9-1",
            "uniprot_ac": "Q8BWG9",
            "uniprot_id": "ORAI1_MOUSE",
            "refseq_ac": "NP_780632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 142A",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 142A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orai1",
                    "type": "recommended"
                },
                {
                    "name": "Cracm1",
                    "type": "synonym"
                },
                {
                    "name": "D730049H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Orai1",
                    "type": "synonym"
                },
                {
                    "name": "Tmem142a",
                    "type": "synonym"
                },
                {
                    "name": "orai-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BWG9-1",
            "evidence": [
                {
                    "id": "0111976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96D31-1",
            "uniprot_ac": "Q96D31",
            "uniprot_id": "ORAI1_HUMAN",
            "refseq_ac": "NP_116179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 142A",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium modulator 1",
                    "type": "synonym"
                },
                {
                    "name": "protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 142A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORAI1",
                    "type": "recommended"
                },
                {
                    "name": "CRACM1",
                    "type": "synonym"
                },
                {
                    "name": "IMD9",
                    "type": "synonym"
                },
                {
                    "name": "ORAI1",
                    "type": "synonym"
                },
                {
                    "name": "ORAT1",
                    "type": "synonym"
                },
                {
                    "name": "TAM2",
                    "type": "synonym"
                },
                {
                    "name": "TMEM142A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96D31-1",
            "evidence": [
                {
                    "id": "612782",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612782"
                },
                {
                    "id": "0111976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M848-1",
            "uniprot_ac": "Q5M848",
            "uniprot_id": "ORAI1_RAT",
            "refseq_ac": "NP_001014004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 142A",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium modulator 1",
                    "type": "synonym"
                },
                {
                    "name": "protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 142A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orai1",
                    "type": "recommended"
                },
                {
                    "name": "Cracm1",
                    "type": "synonym"
                },
                {
                    "name": "Orai1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311873",
                    "type": "synonym"
                },
                {
                    "name": "Tmem142a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M848-1",
            "evidence": [
                {
                    "id": "0111976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U6B8-1",
            "uniprot_ac": "Q9U6B8",
            "uniprot_id": "ORAI1_DROME",
            "refseq_ac": "NP_001137696",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG11430-PE",
                    "type": "synonym"
                },
                {
                    "name": "CRAC modulator 1",
                    "type": "synonym"
                },
                {
                    "name": "Orai-PE",
                    "type": "synonym"
                },
                {
                    "name": "Protein orai",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k11505",
                    "type": "synonym"
                },
                {
                    "name": "olf186-F",
                    "type": "synonym"
                },
                {
                    "name": "orai, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orai",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD03241",
                    "type": "synonym"
                },
                {
                    "name": "CG11430",
                    "type": "synonym"
                },
                {
                    "name": "CRACM1",
                    "type": "synonym"
                },
                {
                    "name": "DOrai",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11430",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11430",
                    "type": "synonym"
                },
                {
                    "name": "ORAI1",
                    "type": "synonym"
                },
                {
                    "name": "ORAI",
                    "type": "synonym"
                },
                {
                    "name": "Olf186-F",
                    "type": "synonym"
                },
                {
                    "name": "Orai1",
                    "type": "synonym"
                },
                {
                    "name": "Orai",
                    "type": "synonym"
                },
                {
                    "name": "dOrai1",
                    "type": "synonym"
                },
                {
                    "name": "dOrai",
                    "type": "synonym"
                },
                {
                    "name": "dorai",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k11505",
                    "type": "synonym"
                },
                {
                    "name": "olf186-F",
                    "type": "synonym"
                },
                {
                    "name": "orai",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U6B8-1",
            "evidence": [
                {
                    "id": "0111976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111976"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111976"
}