{
    "disease_id": "DOID:0081141",
    "recommended_name": {
        "id": "DOID:0081141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081141",
        "name": "agammaglobulinemia 9",
        "description": "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030519",
            "name": "agammaglobulinemia 9, autosomal recessive",
            "description": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy."
        },
        {
            "id": "MONDO:0030519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030519",
            "name": "AGM9",
            "description": ""
        },
        {
            "id": "MIM:619693",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619693",
            "name": "Agammaglobulinemia 9, autosomal recessive",
            "description": "Agammaglobulinemia 9, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081141"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081141",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081141",
            "categories": []
        },
        {
            "id": "MONDO:0030519",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030519",
            "categories": []
        },
        {
            "id": "MIM:619693",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619693",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9PUB8-1",
            "uniprot_ac": "Q9PUB8",
            "uniprot_id": "S39A7_DANRE",
            "refseq_ac": "NP_571006",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter Slc39a7",
                    "type": "recommended"
                },
                {
                    "name": "Histidine-rich membrane protein Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 7",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                },
                {
                    "name": "Zrt-, Irt-like protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich membrane protein Ke4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter Slc39a7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter Slc39a7",
                    "type": "synonym"
                },
                {
                    "name": "zrt-, Irt-like protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc39a7",
                    "type": "recommended"
                },
                {
                    "name": "HKE4",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                },
                {
                    "name": "hke4",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5081",
                    "type": "synonym"
                },
                {
                    "name": "ke4",
                    "type": "synonym"
                },
                {
                    "name": "slc39a7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc28c09",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PUB8-1",
            "evidence": [
                {
                    "id": "0081141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q31125-1",
            "uniprot_ac": "Q31125",
            "uniprot_id": "S39A7_MOUSE",
            "refseq_ac": "NP_001071177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter SLC39A7",
                    "type": "recommended"
                },
                {
                    "name": "H2-K region expressed gene 4",
                    "type": "synonym"
                },
                {
                    "name": "Histidine-rich membrane protein Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 7",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                },
                {
                    "name": "Zrt-, Irt-like protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich membrane protein Ke4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 member 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter SLC39A7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter SLC39A7",
                    "type": "synonym"
                },
                {
                    "name": "zrt-, Irt-like protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a7",
                    "type": "recommended"
                },
                {
                    "name": "H-2Ke4",
                    "type": "synonym"
                },
                {
                    "name": "H2-Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Hke4",
                    "type": "synonym"
                },
                {
                    "name": "Ke-4",
                    "type": "synonym"
                },
                {
                    "name": "Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Ring5",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a7",
                    "type": "synonym"
                },
                {
                    "name": "Zip7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q31125-1",
            "evidence": [
                {
                    "id": "0081141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92504-1",
            "uniprot_ac": "Q92504",
            "uniprot_id": "S39A7_HUMAN",
            "refseq_ac": "NP_001070984",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter SLC39A7",
                    "type": "recommended"
                },
                {
                    "name": "HLA class II region expressed gene KE4",
                    "type": "synonym"
                },
                {
                    "name": "Histidine-rich membrane protein Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Ke4 gene, mouse, human homolog of",
                    "type": "synonym"
                },
                {
                    "name": "Really interesting new gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 7",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                },
                {
                    "name": "Zrt-, Irt-like protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich membrane protein Ke4",
                    "type": "synonym"
                },
                {
                    "name": "really interesting new gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter SLC39A7 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter SLC39A7",
                    "type": "synonym"
                },
                {
                    "name": "zrt-, Irt-like protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC39A7",
                    "type": "recommended"
                },
                {
                    "name": "AGM9",
                    "type": "synonym"
                },
                {
                    "name": "D6S115E",
                    "type": "synonym"
                },
                {
                    "name": "D6S2244E",
                    "type": "synonym"
                },
                {
                    "name": "H2-KE4",
                    "type": "synonym"
                },
                {
                    "name": "HKE4",
                    "type": "synonym"
                },
                {
                    "name": "KE4",
                    "type": "synonym"
                },
                {
                    "name": "RING5",
                    "type": "synonym"
                },
                {
                    "name": "SLC39A7",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92504-1",
            "evidence": [
                {
                    "id": "619693",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619693"
                },
                {
                    "id": "0081141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40544-1",
            "uniprot_ac": "P40544",
            "uniprot_id": "YKE4_YEAST",
            "refseq_ac": "NP_012241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter YKE4",
                    "type": "recommended"
                },
                {
                    "name": "Zn(2+) transporter YKE4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YKE4",
                    "type": "recommended"
                },
                {
                    "name": "YKE4",
                    "type": "synonym"
                }
            ],
            "record_id": "P40544-1",
            "evidence": [
                {
                    "id": "0081141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6MGB4-1",
            "uniprot_ac": "Q6MGB4",
            "uniprot_id": "S39A7_RAT",
            "refseq_ac": "NP_001008885",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter SLC39A7",
                    "type": "recommended"
                },
                {
                    "name": "Histidine-rich membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "RT1 class I, locus Ke4",
                    "type": "synonym"
                },
                {
                    "name": "RT1 region expressed gene KE4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 7",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                },
                {
                    "name": "Zrt-, Irt-like protein 7",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter SLC39A7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter SLC39A7",
                    "type": "synonym"
                },
                {
                    "name": "zrt-, Irt-like protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a7",
                    "type": "recommended"
                },
                {
                    "name": "Ke4",
                    "type": "synonym"
                },
                {
                    "name": "RT1-Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Rt1Ke4",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a7",
                    "type": "synonym"
                },
                {
                    "name": "ZIP7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6MGB4-1",
            "evidence": [
                {
                    "id": "0081141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3A4-1",
            "uniprot_ac": "Q9V3A4",
            "uniprot_id": "CSUP_DROME",
            "refseq_ac": "NP_524931",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein catecholamines up",
                    "type": "recommended"
                },
                {
                    "name": "CG10449-PA",
                    "type": "synonym"
                },
                {
                    "name": "Catsup-PA",
                    "type": "synonym"
                },
                {
                    "name": "catecholamines up",
                    "type": "synonym"
                },
                {
                    "name": "catsup",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Catsup",
                    "type": "recommended"
                },
                {
                    "name": "Bc",
                    "type": "synonym"
                },
                {
                    "name": "CATSUP",
                    "type": "synonym"
                },
                {
                    "name": "CG10449",
                    "type": "synonym"
                },
                {
                    "name": "Catsup",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10449",
                    "type": "synonym"
                },
                {
                    "name": "ZipCatsup",
                    "type": "synonym"
                },
                {
                    "name": "catsup",
                    "type": "synonym"
                },
                {
                    "name": "cg10449",
                    "type": "synonym"
                },
                {
                    "name": "dCATSUP",
                    "type": "synonym"
                },
                {
                    "name": "dZIP7",
                    "type": "synonym"
                },
                {
                    "name": "dZipCATSUP",
                    "type": "synonym"
                },
                {
                    "name": "dZipCatsup",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)ltoQT50",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Bc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)E13",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05402",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05424",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3A4-1",
            "evidence": [
                {
                    "id": "0081141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081141"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081141"
}