{
    "disease_id": "DOID:0111999",
    "recommended_name": {
        "id": "DOID:0111999",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111999",
        "name": "immunodeficiency 61",
        "description": "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111999",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111999",
            "name": "IMD61",
            "description": ""
        },
        {
            "id": "MONDO:0010296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "name": "immunodeficiency 61",
            "description": ""
        },
        {
            "id": "MONDO:0010296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "name": "AGMX2",
            "description": ""
        },
        {
            "id": "MONDO:0010296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "name": "immunodeficiency 61, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "name": "XLA2",
            "description": ""
        },
        {
            "id": "MONDO:0010296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "name": "agammaglobulinemia X-linked type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "name": "agammaglobulinemia, X-linked, type 2",
            "description": ""
        },
        {
            "id": "MIM:300310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300310",
            "name": "Immunodeficiency 61",
            "description": "Immunodeficiency 61"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111999"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111999",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111999",
            "categories": []
        },
        {
            "id": "MONDO:0010296",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010296",
            "categories": []
        },
        {
            "id": "MIM:300310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R550-1",
            "uniprot_ac": "Q8R550",
            "uniprot_id": "SH3K1_MOUSE",
            "refseq_ac": "NP_001129199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain-containing kinase-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Regulator of ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(deltaA) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(h) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(l) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(m1) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(m3) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(t) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk(xl) protein",
                    "type": "synonym"
                },
                {
                    "name": "Ruk",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain-containing kinase-binding protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain-containing kinase-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SH3-containing, expressed in tumorigenic astrocytes",
                    "type": "synonym"
                },
                {
                    "name": "regulator of ubiquitous kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh3kbp1",
                    "type": "recommended"
                },
                {
                    "name": "1200007H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "1700125L08Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830464D22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cin85",
                    "type": "synonym"
                },
                {
                    "name": "IN85",
                    "type": "synonym"
                },
                {
                    "name": "Ruk",
                    "type": "synonym"
                },
                {
                    "name": "Seta",
                    "type": "synonym"
                },
                {
                    "name": "Sh3kbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R550-1",
            "evidence": [
                {
                    "id": "0111999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96B97-1",
            "uniprot_ac": "Q96B97",
            "uniprot_id": "SH3K1_HUMAN",
            "refseq_ac": "NP_001019837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain-containing kinase-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CD2-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "CD2BP3",
                    "type": "synonym"
                },
                {
                    "name": "Cbl-interacting protein of 85 kDa",
                    "type": "synonym"
                },
                {
                    "name": "HSB-1",
                    "type": "synonym"
                },
                {
                    "name": "Human Src family kinase-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain-containing kinase-binding protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "SH3-domain kinase binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Src family kinase-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "c-Cbl-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "cbl-interacting protein of 85 kDa",
                    "type": "synonym"
                },
                {
                    "name": "human Src family kinase-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "migration-inducing gene 18",
                    "type": "synonym"
                },
                {
                    "name": "src-related kinase binding protein-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH3KBP1",
                    "type": "recommended"
                },
                {
                    "name": "AGMX2",
                    "type": "synonym"
                },
                {
                    "name": "CD2BP3",
                    "type": "synonym"
                },
                {
                    "name": "CIN85",
                    "type": "synonym"
                },
                {
                    "name": "GIG10",
                    "type": "synonym"
                },
                {
                    "name": "HSB-1",
                    "type": "synonym"
                },
                {
                    "name": "HSB1",
                    "type": "synonym"
                },
                {
                    "name": "IMD61",
                    "type": "synonym"
                },
                {
                    "name": "MIG18",
                    "type": "synonym"
                },
                {
                    "name": "SH3KBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96B97-1",
            "evidence": [
                {
                    "id": "300310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300310"
                },
                {
                    "id": "0111999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925Q9-1",
            "uniprot_ac": "Q925Q9",
            "uniprot_id": "SH3K1_RAT",
            "refseq_ac": "NP_445812",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 domain-containing kinase-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Regulator of ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "Ruk",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain-containing adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "SH3 domain-containing kinase-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SH3-containing, expressed in tumorigenic astrocytes",
                    "type": "synonym"
                },
                {
                    "name": "SH3-domain kinase binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "regulator of ubiquitous kinase",
                    "type": "synonym"
                },
                {
                    "name": "ruk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh3kbp1",
                    "type": "recommended"
                },
                {
                    "name": "CIN85",
                    "type": "synonym"
                },
                {
                    "name": "Ruk",
                    "type": "synonym"
                },
                {
                    "name": "Seta",
                    "type": "synonym"
                },
                {
                    "name": "Sh3kbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925Q9-1",
            "evidence": [
                {
                    "id": "0111999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KI34-1",
            "uniprot_ac": "A0A0B4KI34",
            "uniprot_id": "A0A0B4KI34_DROME",
            "refseq_ac": "NP_001263129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD2AP and CIN85 orthologue",
                    "type": "synonym"
                },
                {
                    "name": "CG31012-PJ",
                    "type": "synonym"
                },
                {
                    "name": "CIN85 and CD2AP orthologue",
                    "type": "synonym"
                },
                {
                    "name": "CIN85 and CD2AP related, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "cindr-PJ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cindr",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH03163",
                    "type": "synonym"
                },
                {
                    "name": "CD2AP",
                    "type": "synonym"
                },
                {
                    "name": "CG11316",
                    "type": "synonym"
                },
                {
                    "name": "CG1408",
                    "type": "synonym"
                },
                {
                    "name": "CG31012",
                    "type": "synonym"
                },
                {
                    "name": "Cindir",
                    "type": "synonym"
                },
                {
                    "name": "Cindr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31012",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31012",
                    "type": "synonym"
                },
                {
                    "name": "cindr",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KI34-1",
            "evidence": [
                {
                    "id": "0111999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111999"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111999"
}