{
    "disease_id": "DOID:0080595",
    "recommended_name": {
        "id": "DOID:0080595",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080595",
        "name": "autosomal recessive hyper-IgE syndrome 3 with recurrent infections",
        "description": "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080595",
            "name": "hyper IgE recurrent infection syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0032654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "name": "hyper-IgE recurrent infection syndrome 3, autosomal recessive",
            "description": "A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections."
        },
        {
            "id": "MONDO:0032654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "name": "AR-HIES due to ZNF341 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "name": "Autosomal recessive HIES due to ZNF341 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "name": "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "name": "HIES3",
            "description": ""
        },
        {
            "id": "MONDO:0032654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "name": "autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency",
            "description": ""
        },
        {
            "id": "MIM:618282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618282",
            "name": "Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections",
            "description": "Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080595"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080595",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080595",
            "categories": []
        },
        {
            "id": "MONDO:0032654",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032654",
            "categories": []
        },
        {
            "id": "MIM:618282",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618282",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BYN7-1",
            "uniprot_ac": "Q9BYN7",
            "uniprot_id": "ZN341_HUMAN",
            "refseq_ac": "NP_001269862",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 341",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 341 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNF341",
                    "type": "recommended"
                },
                {
                    "name": "HIES3",
                    "type": "synonym"
                },
                {
                    "name": "ZNF341",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYN7-1",
            "evidence": [
                {
                    "id": "618282",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618282"
                },
                {
                    "id": "0080595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7ETL6-1",
            "uniprot_ac": "F7ETL6",
            "uniprot_id": "F7ETL6_RAT",
            "refseq_ac": "NP_001417321",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 341",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 341 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 966",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp341",
                    "type": "recommended"
                },
                {
                    "name": "AABR07054367.1",
                    "type": "synonym"
                },
                {
                    "name": "LRRGT00145",
                    "type": "synonym"
                },
                {
                    "name": "Zfp341",
                    "type": "synonym"
                },
                {
                    "name": "Zfp966",
                    "type": "synonym"
                },
                {
                    "name": "Znf341",
                    "type": "synonym"
                }
            ],
            "record_id": "F7ETL6-1",
            "evidence": [
                {
                    "id": "0080595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080595"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080595"
}