{
    "disease_id": "DOID:0060708",
    "recommended_name": {
        "id": "DOID:0060708",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060708",
        "name": "lymphoproliferative syndrome 2",
        "description": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060708",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060708",
            "name": "CD27 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060708",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060708",
            "name": "LPFS2",
            "description": ""
        },
        {
            "id": "MONDO:0014054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "name": "lymphoproliferative syndrome 2",
            "description": "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene."
        },
        {
            "id": "MONDO:0014054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "name": "CD27 lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "name": "LPFS2",
            "description": ""
        },
        {
            "id": "MONDO:0014054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "name": "lymphoproliferative syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "name": "lymphoproliferative syndrome caused by mutation in CD27",
            "description": ""
        },
        {
            "id": "MONDO:0014054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "name": "lymphoproliferative syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:615122",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615122",
            "name": "Lymphoproliferative syndrome 2",
            "description": "Lymphoproliferative syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060708"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060708",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060708",
            "categories": []
        },
        {
            "id": "MONDO:0014054",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014054",
            "categories": []
        },
        {
            "id": "MIM:615122",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615122",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41272-1",
            "uniprot_ac": "P41272",
            "uniprot_id": "CD27_MOUSE",
            "refseq_ac": "NP_001028298",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD27 antigen",
                    "type": "recommended"
                },
                {
                    "name": "CD antigen 27",
                    "type": "synonym"
                },
                {
                    "name": "CD27 antigen isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "CD27L receptor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell activation antigen CD27",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor superfamily member 7",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd27",
                    "type": "recommended"
                },
                {
                    "name": "Cd27",
                    "type": "synonym"
                },
                {
                    "name": "S152",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf7",
                    "type": "synonym"
                },
                {
                    "name": "Tp55",
                    "type": "synonym"
                }
            ],
            "record_id": "P41272-1",
            "evidence": [
                {
                    "id": "0060708",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060708"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26842-1",
            "uniprot_ac": "P26842",
            "uniprot_id": "CD27_HUMAN",
            "refseq_ac": "NP_001233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD27 antigen",
                    "type": "recommended"
                },
                {
                    "name": "CD27 antigen isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "CD27L receptor",
                    "type": "synonym"
                },
                {
                    "name": "T cell activation antigen S152",
                    "type": "synonym"
                },
                {
                    "name": "T-cell activation antigen CD27",
                    "type": "synonym"
                },
                {
                    "name": "T14",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor superfamily member 7",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD27",
                    "type": "recommended"
                },
                {
                    "name": "CD27",
                    "type": "synonym"
                },
                {
                    "name": "S152. LPFS2",
                    "type": "synonym"
                },
                {
                    "name": "S152",
                    "type": "synonym"
                },
                {
                    "name": "T14",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF7",
                    "type": "synonym"
                },
                {
                    "name": "Tp55",
                    "type": "synonym"
                }
            ],
            "record_id": "P26842-1",
            "evidence": [
                {
                    "id": "615122",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615122"
                },
                {
                    "id": "0060708",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060708"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LHI6-1",
            "uniprot_ac": "A0ABK0LHI6",
            "uniprot_id": "A0ABK0LHI6_RAT",
            "refseq_ac": "NP_001019506",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD27 antigen",
                    "type": "recommended"
                },
                {
                    "name": "CD antigen 27",
                    "type": "synonym"
                },
                {
                    "name": "CD27 antigen precursor",
                    "type": "synonym"
                },
                {
                    "name": "CD27 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD27L receptor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell activation antigen CD27",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor superfamily member 7",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd27",
                    "type": "recommended"
                },
                {
                    "name": "Cd27",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LHI6-1",
            "evidence": [
                {
                    "id": "0060708",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060708"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060708"
}