{
    "disease_id": "DOID:0111996",
    "recommended_name": {
        "id": "DOID:0111996",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111996",
        "name": "immunodeficiency 51",
        "description": "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111996",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111996",
            "name": "CANDF5",
            "description": ""
        },
        {
            "id": "DOID:0111996",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111996",
            "name": "IMD51",
            "description": ""
        },
        {
            "id": "DOID:0111996",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111996",
            "name": "familial candidiasis 5",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "immunodeficiency 51",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "immunodeficiency 51",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "CANDF5",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "IMD51",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "candidiasis, familial, 5",
            "description": ""
        },
        {
            "id": "MONDO:0013500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "name": "candidiasis, familial, type 5",
            "description": ""
        },
        {
            "id": "MIM:613953",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613953",
            "name": "Immunodeficiency 51",
            "description": "Immunodeficiency 51"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111996"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111996",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111996",
            "categories": []
        },
        {
            "id": "MONDO:0013500",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013500",
            "categories": []
        },
        {
            "id": "MIM:613953",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613953",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F2Z4X3-1",
            "uniprot_ac": "F2Z4X3",
            "uniprot_id": "F2Z4X3_DANRE",
            "refseq_ac": "NP_001093473",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin 17 receptor A1a precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 17 receptor A1a precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 17A receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il17ra1a",
                    "type": "recommended"
                },
                {
                    "name": "il17ra1a",
                    "type": "synonym"
                },
                {
                    "name": "il17ra",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-80e1.2",
                    "type": "synonym"
                }
            ],
            "record_id": "F2Z4X3-1",
            "evidence": [
                {
                    "id": "0111996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60943-1",
            "uniprot_ac": "Q60943",
            "uniprot_id": "I17RA_MOUSE",
            "refseq_ac": "NP_032385",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor A",
                    "type": "recommended"
                },
                {
                    "name": "IL-17 receptor A",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il17ra",
                    "type": "recommended"
                },
                {
                    "name": "Cdw217",
                    "type": "synonym"
                },
                {
                    "name": "Il17ra",
                    "type": "synonym"
                },
                {
                    "name": "Il17r",
                    "type": "synonym"
                },
                {
                    "name": "VDw217",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60943-1",
            "evidence": [
                {
                    "id": "0111996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96F46-1",
            "uniprot_ac": "Q96F46",
            "uniprot_id": "I17RA_HUMAN",
            "refseq_ac": "NP_001276834",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor A",
                    "type": "recommended"
                },
                {
                    "name": "CDw217",
                    "type": "synonym"
                },
                {
                    "name": "IL-17 receptor A",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-17 receptor A isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL17RA",
                    "type": "recommended"
                },
                {
                    "name": "CANDF5",
                    "type": "synonym"
                },
                {
                    "name": "CD217",
                    "type": "synonym"
                },
                {
                    "name": "CDw217",
                    "type": "synonym"
                },
                {
                    "name": "IL-17RA",
                    "type": "synonym"
                },
                {
                    "name": "IL17RA",
                    "type": "synonym"
                },
                {
                    "name": "IL17R",
                    "type": "synonym"
                },
                {
                    "name": "IMD51",
                    "type": "synonym"
                },
                {
                    "name": "hIL-17R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96F46-1",
            "evidence": [
                {
                    "id": "613953",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613953"
                },
                {
                    "id": "0111996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A740-1",
            "uniprot_ac": "D4A740",
            "uniprot_id": "D4A740_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-17 receptor A",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Il17ra",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A740-1",
            "evidence": [
                {
                    "id": "0111996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111996"
}