{
    "disease_id": "DOID:0070747",
    "recommended_name": {
        "id": "DOID:0070747",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070747",
        "name": "immunodeficiency, developmental delay, and hypohomocysteinemia",
        "description": "An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070747",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070747",
            "name": "IMDDHH",
            "description": ""
        },
        {
            "id": "MONDO:0060591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "name": "immunodeficiency, developmental delay, and hypohomocysteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0060591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "name": "immunodeficiency, developmental delay, and hypohomocysteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0060591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "name": "IMDDHH",
            "description": ""
        },
        {
            "id": "MIM:617744",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617744",
            "name": "Immunodeficiency, developmental delay, and hypohomocysteinemia",
            "description": "Immunodeficiency, developmental delay, and hypohomocysteinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070747"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070747",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070747",
            "categories": []
        },
        {
            "id": "MONDO:0060591",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "categories": []
        },
        {
            "id": "MIM:617744",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617744",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q16236-1",
            "uniprot_ac": "Q16236",
            "uniprot_id": "NF2L2_HUMAN",
            "refseq_ac": "NP_001138884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor erythroid 2-related factor 2",
                    "type": "recommended"
                },
                {
                    "name": "NF-E2-related factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NFE2-related factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Nrf-2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor, erythroid derived 2, like 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor erythroid 2-related factor 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor erythroid 2-related factor 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor erythroid-derived 2-like 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor, erythroid 2 like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFE2L2",
                    "type": "recommended"
                },
                {
                    "name": "IMDDHH",
                    "type": "synonym"
                },
                {
                    "name": "NFE2L2",
                    "type": "synonym"
                },
                {
                    "name": "NRF2",
                    "type": "synonym"
                },
                {
                    "name": "Nrf-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16236-1",
            "evidence": [
                {
                    "id": "617744",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617744"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070747"
}