{
    "disease_id": "DOID:0081077",
    "recommended_name": {
        "id": "DOID:0081077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081077",
        "name": "ectodermal dysplasia and immune deficiency",
        "description": "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency."
    },
    "synonyms": [
        {
            "id": "DOID:0081077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081077",
            "name": "Anhidrotic ectodermal dysplasia with immune deficiency",
            "description": ""
        },
        {
            "id": "DOID:0081077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081077",
            "name": "Ectodermal dysplasia, hypohidrotic, with immune deficiency",
            "description": ""
        },
        {
            "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": "DOID:0081078",
            "label": "ectodermal dysplasia and immunodeficiency 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081079",
            "label": "ectodermal dysplasia and immunodeficiency 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081079",
        "DOID:0081077",
        "DOID:0081078"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081077",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081077",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081077"
}