{
    "disease_id": "DOID:0081078",
    "recommended_name": {
        "id": "DOID:0081078",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081078",
        "name": "ectodermal dysplasia and immunodeficiency 1",
        "description": "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "MONDO:0020740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020740",
            "name": "ectodermal dysplasia and immunodeficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0020740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020740",
            "name": "EDA-Id",
            "description": ""
        },
        {
            "id": "MONDO:0020740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020740",
            "name": "HED-Id",
            "description": ""
        },
        {
            "id": "MONDO:0020740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020740",
            "name": "EDAID1",
            "description": ""
        },
        {
            "id": "MONDO:0020740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020740",
            "name": "ectodermal dysplasia and immunodeficiency 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MIM:300291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300291",
            "name": "Ectodermal dysplasia and immunodeficiency 1",
            "description": "Ectodermal dysplasia and immunodeficiency 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081078"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081078",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081078",
            "categories": []
        },
        {
            "id": "MONDO:0020740",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020740",
            "categories": []
        },
        {
            "id": "MIM:300291",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300291",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88522-1",
            "uniprot_ac": "O88522",
            "uniprot_id": "NEMO_MOUSE",
            "refseq_ac": "NP_001154895",
            "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 essential modulator",
                    "type": "recommended"
                },
                {
                    "name": "I-kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKAP1",
                    "type": "synonym"
                },
                {
                    "name": "IKKG",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "NEMO",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modifier",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modulator isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modulator",
                    "type": "synonym"
                },
                {
                    "name": "ikB kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ikB kinase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "mFIP-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikbkg",
                    "type": "recommended"
                },
                {
                    "name": "1110037D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "IKK[g]",
                    "type": "synonym"
                },
                {
                    "name": "Ikbkg",
                    "type": "synonym"
                },
                {
                    "name": "NEMO",
                    "type": "synonym"
                },
                {
                    "name": "Nemo",
                    "type": "synonym"
                }
            ],
            "record_id": "O88522-1",
            "evidence": [
                {
                    "id": "0081078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6K9-1",
            "uniprot_ac": "Q9Y6K9",
            "uniprot_id": "NEMO_HUMAN",
            "refseq_ac": "NP_001308326",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B essential modulator",
                    "type": "recommended"
                },
                {
                    "name": "14.7K (adenovirus E3 protein) interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "FIP-3",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKAP1",
                    "type": "synonym"
                },
                {
                    "name": "IKKG",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "NEMO",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modifier",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modulator isoform d",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modulator",
                    "type": "synonym"
                },
                {
                    "name": "ikB kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ikB kinase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "incontinentia pigmenti",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa B kinase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKBKG",
                    "type": "recommended"
                },
                {
                    "name": "AMCBX1",
                    "type": "synonym"
                },
                {
                    "name": "EDAID1",
                    "type": "synonym"
                },
                {
                    "name": "FIP-3",
                    "type": "synonym"
                },
                {
                    "name": "FIP3",
                    "type": "synonym"
                },
                {
                    "name": "Fip3p",
                    "type": "synonym"
                },
                {
                    "name": "IKBKG",
                    "type": "synonym"
                },
                {
                    "name": "IKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKAP1",
                    "type": "synonym"
                },
                {
                    "name": "IKKG",
                    "type": "synonym"
                },
                {
                    "name": "IMD33",
                    "type": "synonym"
                },
                {
                    "name": "IP1",
                    "type": "synonym"
                },
                {
                    "name": "IP2",
                    "type": "synonym"
                },
                {
                    "name": "IPD2",
                    "type": "synonym"
                },
                {
                    "name": "IP",
                    "type": "synonym"
                },
                {
                    "name": "NEMO",
                    "type": "synonym"
                },
                {
                    "name": "SAIDX",
                    "type": "synonym"
                },
                {
                    "name": "ZC2HC9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6K9-1",
            "evidence": [
                {
                    "id": "300291",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300291"
                },
                {
                    "id": "0081078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6TMG5-1",
            "uniprot_ac": "Q6TMG5",
            "uniprot_id": "NEMO_RAT",
            "refseq_ac": "NP_954534",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B essential modulator",
                    "type": "recommended"
                },
                {
                    "name": "I-kappa-B kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKAP1",
                    "type": "synonym"
                },
                {
                    "name": "IKKG",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IkB kinase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "NEMO",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modifier",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B essential modulator",
                    "type": "synonym"
                },
                {
                    "name": "ikB kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ikB kinase-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappaB kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa B kinase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikbkg",
                    "type": "recommended"
                },
                {
                    "name": "Ikbkg",
                    "type": "synonym"
                },
                {
                    "name": "Nemo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TMG5-1",
            "evidence": [
                {
                    "id": "0081078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GYV5-1",
            "uniprot_ac": "Q9GYV5",
            "uniprot_id": "NEMO_DROME",
            "refseq_ac": "NP_523856",
            "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 essential modulator",
                    "type": "recommended"
                },
                {
                    "name": "CG16910-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of nuclear factor kappa B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "NEMO homolog",
                    "type": "synonym"
                },
                {
                    "name": "kenney",
                    "type": "synonym"
                },
                {
                    "name": "kenny, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "kenny",
                    "type": "synonym"
                },
                {
                    "name": "key-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "key",
                    "type": "recommended"
                },
                {
                    "name": "CG16910",
                    "type": "synonym"
                },
                {
                    "name": "DmIKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16910",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16910",
                    "type": "synonym"
                },
                {
                    "name": "Dmikkgamma",
                    "type": "synonym"
                },
                {
                    "name": "IKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKGAMMA",
                    "type": "synonym"
                },
                {
                    "name": "IKKG",
                    "type": "synonym"
                },
                {
                    "name": "IKK[[gamma]]",
                    "type": "synonym"
                },
                {
                    "name": "IKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKg",
                    "type": "synonym"
                },
                {
                    "name": "IKK",
                    "type": "synonym"
                },
                {
                    "name": "Ikkgammabeta",
                    "type": "synonym"
                },
                {
                    "name": "KEY",
                    "type": "synonym"
                },
                {
                    "name": "Kenny",
                    "type": "synonym"
                },
                {
                    "name": "Key",
                    "type": "synonym"
                },
                {
                    "name": "dIKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "dIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "dIKK",
                    "type": "synonym"
                },
                {
                    "name": "dmIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "key",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GYV5-1",
            "evidence": [
                {
                    "id": "0081078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081078"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081078"
}