{
    "disease_id": "DOID:0081079",
    "recommended_name": {
        "id": "DOID:0081079",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081079",
        "name": "ectodermal dysplasia and immunodeficiency 2",
        "description": "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "name": "ectodermal dysplasia and immunodeficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0012806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "name": "EPAID2",
            "description": ""
        },
        {
            "id": "MONDO:0012806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "name": "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:612132",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612132",
            "name": "Ectodermal dysplasia and immunodeficiency 2",
            "description": "Ectodermal dysplasia and immunodeficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081079"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081079",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081079",
            "categories": []
        },
        {
            "id": "MONDO:0012806",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "categories": []
        },
        {
            "id": "MIM:612132",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612132",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QCG4-1",
            "uniprot_ac": "F1QCG4",
            "uniprot_id": "F1QCG4_DANRE",
            "refseq_ac": "NP_998349",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "I-kappa-B-alpha",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB inhibitor alpha-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nfkbiaa",
                    "type": "recommended"
                },
                {
                    "name": "fj16a07",
                    "type": "synonym"
                },
                {
                    "name": "ikbaA",
                    "type": "synonym"
                },
                {
                    "name": "nfkbiaa",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj16a07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85769",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QCG4-1",
            "evidence": [
                {
                    "id": "0081079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1E3-1",
            "uniprot_ac": "Q9Z1E3",
            "uniprot_id": "IKBA_MOUSE",
            "refseq_ac": "NP_035037",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "I(Kappa)B(alpha)",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B-alpha",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaBalpha",
                    "type": "synonym"
                },
                {
                    "name": "IkB-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IkappaBalpha",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "synonym"
                },
                {
                    "name": "ikB-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ikappaBalpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light chain gene enhancer in B-cells inhibitor, alpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polyp gene enhancer in B-cell 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfkbia",
                    "type": "recommended"
                },
                {
                    "name": "Ikba",
                    "type": "synonym"
                },
                {
                    "name": "Nfkbia",
                    "type": "synonym"
                },
                {
                    "name": "Nfkbi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1E3-1",
            "evidence": [
                {
                    "id": "0081079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25963-1",
            "uniprot_ac": "P25963",
            "uniprot_id": "IKBA_HUMAN",
            "refseq_ac": "NP_065390",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "I-kappa-B-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IkB-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IkappaBalpha",
                    "type": "synonym"
                },
                {
                    "name": "Major histocompatibility complex enhancer-binding protein MAD3",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "synonym"
                },
                {
                    "name": "ikB-alpha",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex enhancer-binding protein MAD3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light chain gene enhancer in B-cells",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFKBIA",
                    "type": "recommended"
                },
                {
                    "name": "EDAID2",
                    "type": "synonym"
                },
                {
                    "name": "IKBA",
                    "type": "synonym"
                },
                {
                    "name": "MAD-3",
                    "type": "synonym"
                },
                {
                    "name": "MAD3",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIA",
                    "type": "synonym"
                },
                {
                    "name": "NFKBI",
                    "type": "synonym"
                }
            ],
            "record_id": "P25963-1",
            "evidence": [
                {
                    "id": "612132",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612132"
                },
                {
                    "id": "0081079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63746-1",
            "uniprot_ac": "Q63746",
            "uniprot_id": "IKBA_RAT",
            "refseq_ac": "NP_001099190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "recommended"
                },
                {
                    "name": "I-kappa-B-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IkB-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IkappaBalpha",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of nuclear factor of kappa light chain gene enhancer in B-cells, alpha",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B inhibitor alpha",
                    "type": "synonym"
                },
                {
                    "name": "RL/IF-1",
                    "type": "synonym"
                },
                {
                    "name": "ikB-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ikappaBalpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light chain gene enhancer in B-cells inhibitor, alpha",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfkbia",
                    "type": "recommended"
                },
                {
                    "name": "Ikba",
                    "type": "synonym"
                },
                {
                    "name": "Nfkbia",
                    "type": "synonym"
                },
                {
                    "name": "RL/IF-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63746-1",
            "evidence": [
                {
                    "id": "0081079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03017-1",
            "uniprot_ac": "Q03017",
            "uniprot_id": "CACT_DROME",
            "refseq_ac": "NP_001260496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B inhibitor cactus",
                    "type": "recommended"
                },
                {
                    "name": "CG5848-PE",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B inhibitor cactus",
                    "type": "synonym"
                },
                {
                    "name": "cact-PE",
                    "type": "synonym"
                },
                {
                    "name": "cactus, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "female-sterile-(2)-ltoRN48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cact",
                    "type": "recommended"
                },
                {
                    "name": "5848",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS02740.15",
                    "type": "synonym"
                },
                {
                    "name": "CACTUS",
                    "type": "synonym"
                },
                {
                    "name": "CACT",
                    "type": "synonym"
                },
                {
                    "name": "CG5848",
                    "type": "synonym"
                },
                {
                    "name": "Cactus",
                    "type": "synonym"
                },
                {
                    "name": "Cact",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5848",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5848",
                    "type": "synonym"
                },
                {
                    "name": "Ikappa",
                    "type": "synonym"
                },
                {
                    "name": "NFkappabeta1A",
                    "type": "synonym"
                },
                {
                    "name": "cact",
                    "type": "synonym"
                },
                {
                    "name": "cac",
                    "type": "synonym"
                },
                {
                    "name": "dip6",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)ltoRN48",
                    "type": "synonym"
                },
                {
                    "name": "n(2)k17003",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03017-1",
            "evidence": [
                {
                    "id": "0081079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081079"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081079"
}