{ "disease_id": "DOID:0060704", "recommended_name": { "id": "DOID:0060704", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060704", "name": "lymphoproliferative syndrome", "description": "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection." }, "synonyms": [ { "id": "DOID:0060704", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060704", "name": "Combined immunodeficiency due to ITK deficiency", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency", "description": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "lymphoproliferative syndrome, X-linked, 1, X-linked recessive", "description": "" }, { "id": "MONDO:0024551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "name": "XLP1", "description": "" }, { "id": "MIM:308240", "resource": "MIM", "url": "https://www.omim.org/entry/308240", "name": "Lymphoproliferative syndrome, X-linked, 1", "description": "Lymphoproliferative syndrome, X-linked, 1" } ], "children": [ { "id": "DOID:0060705", "label": "X-linked lymphoproliferative syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0060706", "label": "X-linked lymphoproliferative syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0060707", "label": "lymphoproliferative syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0060708", "label": "lymphoproliferative syndrome 2", "link_status": true, "children": [] } ], "id_list": [ "DOID:0060705", "DOID:0060707", "DOID:0060704", "DOID:0060708", "DOID:0060706" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060704", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060704", "categories": [] }, { "id": "MONDO:0024551", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024551", "categories": [] }, { "id": "MIM:308240", "database": "MIM", "url": "https://www.omim.org/entry/308240", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0ACD6B665-1", "uniprot_ac": "A0ACD6B665", "uniprot_id": "A0ACD6B665_DANRE", "refseq_ac": "XP_021323082", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tumor necrosis factor receptor superfamily member 6", "type": "recommended" }, { "name": "Apo-1 antigen", "type": "synonym" }, { "name": "Apoptosis-mediating surface antigen FAS", "type": "synonym" }, { "name": "FASLG receptor", "type": "synonym" }, { "name": "tumor necrosis factor receptor superfamily member 6", "type": "synonym" } ], "gene_names": [ { "name": "fas", "type": "recommended" }, { "name": "fas", "type": "synonym" } ], "record_id": "A0ACD6B665-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "E7F2I0-1", "uniprot_ac": "E7F2I0", "uniprot_id": "E7F2I0_DANRE", "refseq_ac": "XP_073774608", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Antigen peptide transporter 2", "type": "recommended" }, { "name": "7.4.2.14", "type": "synonym" }, { "name": "ATP-binding cassette sub-family B member 3", "type": "synonym" }, { "name": "antigen peptide transporter 2", "type": "synonym" } ], "gene_names": [ { "name": "tap2t", "type": "recommended" }, { "name": "tap2t", "type": "synonym" } ], "record_id": "E7F2I0-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "Q801W2-1", "uniprot_ac": "Q801W2", "uniprot_id": "Q801W2_DANRE", "refseq_ac": "NP_001006594", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "ABC-type antigen peptide transporter", "type": "recommended" }, { "name": 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{ "name": "Beta-2-microglobulin", "type": "recommended" }, { "name": "beta-2-microglobulin precursor", "type": "synonym" } ], "gene_names": [ { "name": "b2m", "type": "recommended" }, { "name": "b2m", "type": "synonym" }, { "name": "bwm", "type": "synonym" }, { "name": "wu:fa94c05", "type": "synonym" }, { "name": "wu:fb10a09", "type": "synonym" } ], "record_id": "Q04475-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "A0AB32U1V9-1", "uniprot_ac": "A0AB32U1V9", "uniprot_id": "A0AB32U1V9_DANRE", "refseq_ac": "NP_001091732", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Beta-2-microglobulin", "type": "recommended" }, { "name": "major histocompatibility complex, class II alpha chain, WA_01", "type": "synonym" }, { "name": "major histocompatibility complex, class II alpha chain, WA_02", "type": "synonym" }, { "name": "major histocompatibility complex, class II alpha chain, WA_03", "type": "synonym" }, { "name": "major histocompatibility complex, class II alpha chain, WA_04", "type": "synonym" }, { "name": "major histocompatibility complex, class II beta chain, WB_05", "type": "synonym" }, { "name": "uncharacterized protein LOC100002901 precursor", "type": "synonym" } ], "gene_names": [ { "name": "zmp:0000001138", "type": "recommended" }, { "name": "WA_01", "type": "synonym" }, { "name": "WA_02", "type": "synonym" }, { "name": "WA_03", "type": "synonym" }, { "name": "WA_04", "type": "synonym" }, { "name": "WA_05", "type": "synonym" }, { "name": "zmp:0000001138", "type": "synonym" } ], "record_id": "A0AB32U1V9-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "O55237-1", "uniprot_ac": "O55237", "uniprot_id": "CD70_MOUSE", "refseq_ac": "NP_035747", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "CD70 antigen", "type": "recommended" }, { "name": "CD27 ligand", "type": "synonym" }, { "name": "CD27-L", "type": "synonym" }, { "name": "CD70 antigen", "type": "synonym" }, { "name": "Ki-24 antigen", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 7", "type": "synonym" }, { "name": "tumor necrosis factor ligand 8a", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 7", "type": "synonym" } ], "gene_names": [ { "name": "Cd70", "type": "recommended" }, { "name": "CD27LG", "type": "synonym" }, { "name": "Cd27lg", "type": "synonym" }, { "name": "Cd27l", "type": "synonym" }, { "name": "Cd70", "type": "synonym" }, { "name": "Tnfsf7", "type": "synonym" }, { "name": "Tnlg8a", "type": 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"id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "P42227-1", "uniprot_ac": "P42227", "uniprot_id": "STAT3_MOUSE", "refseq_ac": "NP_998824", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Signal transducer and activator of transcription 3", "type": "recommended" }, { "name": "Acute-phase response factor", "type": "synonym" }, { "name": "acute phase response factor", "type": "synonym" }, { "name": "signal transducer and activator of transcription 3 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Stat3", "type": "recommended" }, { "name": "1110034C02Rik", "type": "synonym" }, { "name": "Aprf", "type": "synonym" }, { "name": "Stat3", "type": "synonym" } ], "record_id": "P42227-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": 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"M0R613_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "CD70 antigen", "type": "recommended" }, { "name": "CD27 ligand", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 7", "type": "synonym" } ], "gene_names": [ { "name": "Cd70", "type": "recommended" } ], "record_id": "M0R613-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "Q63199-1", "uniprot_ac": "Q63199", "uniprot_id": "TNR6_RAT", "refseq_ac": "NP_631933", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tumor necrosis factor receptor superfamily member 6", 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"name": "Natural killer cell p46-related protein", "type": "synonym" }, { "name": "hNKp46", "type": "synonym" }, { "name": "lymphocyte antigen 94 homolog (activating NK-receptor", "type": "synonym" }, { "name": "natural cytotoxicity triggering receptor 1 isoform b precursor", "type": "synonym" }, { "name": "natural killer cell p46-related protein", "type": "synonym" } ], "gene_names": [ { "name": "NCR1", "type": "recommended" }, { "name": "CD335", "type": "synonym" }, { "name": "LY94", "type": "synonym" }, { "name": "NCR1", "type": "synonym" }, { "name": "NK-p46", "type": "synonym" }, { "name": "NKP46", "type": "synonym" } ], "record_id": "O76036-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "P26718-1", "uniprot_ac": "P26718", "uniprot_id": "NKG2D_HUMAN", "refseq_ac": "NP_031386", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NKG2-D type II integral membrane protein", "type": "recommended" }, { "name": "Killer cell lectin-like receptor subfamily K member 1", "type": "synonym" }, { "name": "NK cell receptor D", "type": "synonym" }, { "name": "NKG2-D type II integral membrane protein", "type": "synonym" }, { "name": "NKG2-D-activating NK receptor", "type": "synonym" }, { "name": "killer cell lectin-like receptor subfamily K, member 1", "type": "synonym" } ], "gene_names": [ { "name": "KLRK1", "type": "recommended" }, { "name": "CD314", "type": "synonym" }, { "name": "D12S2489E", "type": "synonym" }, { "name": "KLRK1", "type": "synonym" }, { "name": "KLR", "type": "synonym" }, { "name": "NKG2-D", "type": "synonym" }, { "name": "NKG2D", "type": "synonym" } ], "record_id": "P26718-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "P61769-1", "uniprot_ac": "P61769", "uniprot_id": "B2MG_HUMAN", "refseq_ac": "NP_004039", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Beta-2-microglobulin", "type": "recommended" }, { "name": "beta chain of MHC class I molecules", "type": "synonym" }, { "name": "beta-2-microglobin", "type": "synonym" }, { "name": "beta-2-microglobulin precursor", "type": "synonym" } ], "gene_names": [ { "name": "B2M", "type": "recommended" }, { "name": "AMYLD6", "type": "synonym" }, { "name": "B2M", "type": "synonym" }, { "name": "CDABP0092", "type": "synonym" }, { "name": "HDCMA22P", "type": "synonym" }, { "name": "IMD43", "type": "synonym" }, { "name": "MHC1D4", "type": "synonym" } ], "record_id": "P61769-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "P49279-1", "uniprot_ac": "P49279", "uniprot_id": "NRAM1_HUMAN", "refseq_ac": "NP_000569", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Natural resistance-associated macrophage protein 1", "type": "recommended" }, { "name": "Leishmaniasis resistance", "type": "synonym" }, { "name": "NRAMP 1", "type": "synonym" }, { "name": "Solute carrier family 11 member 1", "type": "synonym" }, { "name": "natural resistance-associated macrophage protein 1", "type": "synonym" }, { "name": "solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1", "type": "synonym" }, { "name": "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1", "type": "synonym" }, { "name": "solute carrier family 11 (sodium/phosphate symporters), member 1", "type": "synonym" } ], 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transcription 3 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "STAT3", "type": "recommended" }, { "name": "ADMIO1", "type": "synonym" }, { "name": "ADMIO", "type": "synonym" }, { "name": "APRF", "type": "synonym" }, { "name": "HIES", "type": "synonym" }, { "name": "STAT3", "type": "synonym" } ], "record_id": "P40763-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "Q03519-1", "uniprot_ac": "Q03519", "uniprot_id": "TAP2_HUMAN", "refseq_ac": "NP_000535", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Antigen peptide transporter 2", "type": "recommended" }, { "name": "7.4.2.14", "type": "synonym" }, { "name": "ABC transporter, MHC 2", "type": "synonym" }, { "name": "APT2", "type": "synonym" }, { "name": "ATP-binding 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ABC (ATP binding cassette)", "type": "synonym" }, { "name": "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)", "type": "synonym" } ], "gene_names": [ { "name": "TAP2", "type": "recommended" }, { "name": "ABC18", "type": "synonym" }, { "name": "ABCB3", "type": "synonym" }, { "name": "APT2", "type": "synonym" }, { "name": "D6S217E", "type": "synonym" }, { "name": "MHC1D2", "type": "synonym" }, { "name": "PSF-2", "type": "synonym" }, { "name": "PSF2", "type": "synonym" }, { "name": "RING11", "type": "synonym" }, { "name": "TAP2", "type": "synonym" }, { "name": "Y1", "type": "synonym" } ], "record_id": "Q03519-1", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "Q14943-1", "uniprot_ac": "Q14943", "uniprot_id": "KI3S1_HUMAN", "refseq_ac": "NP_001077008", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Killer cell immunoglobulin-like receptor 3DS1", "type": "recommended" }, { "name": "NKAT-10", "type": "synonym" }, { "name": "Natural killer-associated transcript 10", "type": "synonym" }, { "name": "killer cell immunoglobulin-like receptor 3DS1 isoform 1 precursor", "type": "synonym" }, { "name": "killer cell immunoglobulin-like receptor 3DS1", "type": "synonym" }, { "name": "killer cell immunoglobulin-like receptor KIR3DS1", "type": "synonym" }, { "name": "killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1", "type": "synonym" }, { "name": "natural killer-associated transcript 10", "type": "synonym" } ], "gene_names": [ { "name": "KIR3DS1", "type": "recommended" }, { "name": "CD158E2", "type": "synonym" }, { "name": "KIR-123FM", "type": "synonym" }, { "name": "KIR-G1", "type": "synonym" }, { "name": "KIR3DS1", "type": "synonym" }, { "name": "LOC112268355", "type": "synonym" }, 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"0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ] }, { "uniprot_canonical_ac": "P32970-1", "uniprot_ac": "P32970", "uniprot_id": "CD70_HUMAN", "refseq_ac": "NP_001243", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "CD70 antigen", "type": "recommended" }, { "name": "CD27 ligand", "type": "synonym" }, { "name": "CD27-L", "type": "synonym" }, { "name": "CD70 antigen isoform 1", "type": "synonym" }, { "name": "CD70 antigen", "type": "synonym" }, { "name": "Ki-24 antigen", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 7", "type": "synonym" }, { "name": "surface antigen CD70", "type": "synonym" }, { "name": "tumor necrosis factor ligand 8A", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 7", "type": "synonym" } ], "gene_names": 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