{
    "disease_id": "DOID:0061072",
    "recommended_name": {
        "id": "DOID:0061072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061072",
        "name": "immunodeficiency 102",
        "description": "A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "immunodeficiency 102",
            "description": "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation."
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "IMD102",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "SASH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "X-linked CID due to SASH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "X-linked combined immunodeficiency due to SASH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "immunodeficiency 102",
            "description": ""
        },
        {
            "id": "MIM:301082",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301082",
            "name": "Immunodeficiency 102",
            "description": "Immunodeficiency 102"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061072"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061072",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061072",
            "categories": []
        },
        {
            "id": "MONDO:0024781",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "categories": []
        },
        {
            "id": "MIM:301082",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301082",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EZR2-1",
            "uniprot_ac": "E7EZR2",
            "uniprot_id": "E7EZR2_DANRE",
            "refseq_ac": "XP_690443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sash3",
                    "type": "recommended"
                },
                {
                    "name": "sash3",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZR2-1",
            "evidence": [
                {
                    "id": "0061072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K352-1",
            "uniprot_ac": "Q8K352",
            "uniprot_id": "SASH3_MOUSE",
            "refseq_ac": "NP_001300678",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Novel SH3 and SAM domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SH3 protein expressed in lymphocytes",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sash3",
                    "type": "recommended"
                },
                {
                    "name": "1200013B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "SLY1",
                    "type": "synonym"
                },
                {
                    "name": "Sash3",
                    "type": "synonym"
                },
                {
                    "name": "Sly",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K352-1",
            "evidence": [
                {
                    "id": "0061072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75995-1",
            "uniprot_ac": "O75995",
            "uniprot_id": "SASH3_HUMAN",
            "refseq_ac": "NP_061863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SH3 protein expressed in lymphocytes homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SASH3",
                    "type": "recommended"
                },
                {
                    "name": "753P9",
                    "type": "synonym"
                },
                {
                    "name": "CXorf9",
                    "type": "synonym"
                },
                {
                    "name": "HACS2",
                    "type": "synonym"
                },
                {
                    "name": "IMD102",
                    "type": "synonym"
                },
                {
                    "name": "SASH3",
                    "type": "synonym"
                },
                {
                    "name": "SH3D6C",
                    "type": "synonym"
                },
                {
                    "name": "SLY",
                    "type": "synonym"
                }
            ],
            "record_id": "O75995-1",
            "evidence": [
                {
                    "id": "301082",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301082"
                },
                {
                    "id": "0061072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EM42-1",
            "uniprot_ac": "F7EM42",
            "uniprot_id": "F7EM42_RAT",
            "refseq_ac": "XP_006257592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM and SH3 domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "SAM and SH3 domain-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sash3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560293",
                    "type": "synonym"
                },
                {
                    "name": "Sash3",
                    "type": "synonym"
                }
            ],
            "record_id": "F7EM42-1",
            "evidence": [
                {
                    "id": "0061072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHV7-1",
            "uniprot_ac": "A0A0B4KHV7",
            "uniprot_id": "A0A0B4KHV7_DROME",
            "refseq_ac": "NP_001262827",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "CG31163-PI",
                    "type": "synonym"
                },
                {
                    "name": "SKIP-PI",
                    "type": "synonym"
                },
                {
                    "name": "shal K[+] channel interacting protein, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "shal K[+] channel interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "skal K[+] channel interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKIP",
                    "type": "recommended"
                },
                {
                    "name": "CG13863",
                    "type": "synonym"
                },
                {
                    "name": "CG13864",
                    "type": "synonym"
                },
                {
                    "name": "CG31163",
                    "type": "synonym"
                },
                {
                    "name": "CG5736",
                    "type": "synonym"
                },
                {
                    "name": "CG7086",
                    "type": "synonym"
                },
                {
                    "name": "CG7087",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31163",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31163",
                    "type": "synonym"
                },
                {
                    "name": "SKIP",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHV7-1",
            "evidence": [
                {
                    "id": "0061072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061072"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061072"
}