{
    "disease_id": "DOID:0061056",
    "recommended_name": {
        "id": "DOID:0061056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061056",
        "name": "immunodeficiency 86",
        "description": "A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030448",
            "name": "immunodeficiency 86",
            "description": ""
        },
        {
            "id": "MONDO:0030448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030448",
            "name": "IMD86",
            "description": ""
        },
        {
            "id": "MIM:619549",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619549",
            "name": "Immunodeficiency 86",
            "description": "Immunodeficiency 86"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061056"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061056",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061056",
            "categories": []
        },
        {
            "id": "MONDO:0030448",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030448",
            "categories": []
        },
        {
            "id": "MIM:619549",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619549",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJF9-1",
            "uniprot_ac": "Q9JJF9",
            "uniprot_id": "SPP2A_MOUSE",
            "refseq_ac": "NP_075709",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal peptide peptidase-like 2A",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "IMP-3",
                    "type": "synonym"
                },
                {
                    "name": "Intramembrane protease 3",
                    "type": "synonym"
                },
                {
                    "name": "Presenilin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SPP-like 2A protein",
                    "type": "synonym"
                },
                {
                    "name": "SPP-like 2A",
                    "type": "synonym"
                },
                {
                    "name": "SPPL2a",
                    "type": "synonym"
                },
                {
                    "name": "intramembrane protease 3",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein SPPL2a",
                    "type": "synonym"
                },
                {
                    "name": "signal peptide peptidase-like 2A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sppl2a",
                    "type": "recommended"
                },
                {
                    "name": "2010106G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130089K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Imp3",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-3763",
                    "type": "synonym"
                },
                {
                    "name": "Psl2",
                    "type": "synonym"
                },
                {
                    "name": "Sppl2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJF9-1",
            "evidence": [
                {
                    "id": "0061056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TCT8-1",
            "uniprot_ac": "Q8TCT8",
            "uniprot_id": "SPP2A_HUMAN",
            "refseq_ac": "NP_116191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal peptide peptidase-like 2A",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "IMP-3",
                    "type": "synonym"
                },
                {
                    "name": "Intramembrane protease 3",
                    "type": "synonym"
                },
                {
                    "name": "Presenilin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SPP-like 2A",
                    "type": "synonym"
                },
                {
                    "name": "SPPL2a",
                    "type": "synonym"
                },
                {
                    "name": "intramembrane cleaving protease",
                    "type": "synonym"
                },
                {
                    "name": "intramembrane protease 3",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "signal peptide peptidase-like 2A isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPPL2A",
                    "type": "recommended"
                },
                {
                    "name": "IMD86",
                    "type": "synonym"
                },
                {
                    "name": "IMP3",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0147",
                    "type": "synonym"
                },
                {
                    "name": "PSL2",
                    "type": "synonym"
                },
                {
                    "name": "SPPL2A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TCT8-1",
            "evidence": [
                {
                    "id": "619549",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619549"
                },
                {
                    "id": "0061056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNG3-1",
            "uniprot_ac": "D3ZNG3",
            "uniprot_id": "D3ZNG3_RAT",
            "refseq_ac": "NP_001101240",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal peptide peptidase-like 2A",
                    "type": "recommended"
                },
                {
                    "name": "Intramembrane protease 3",
                    "type": "synonym"
                },
                {
                    "name": "Presenilin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "signal peptide peptidase-like 2A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sppl2a",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563001",
                    "type": "synonym"
                },
                {
                    "name": "Sppl2a",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZNG3-1",
            "evidence": [
                {
                    "id": "0061056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061056"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061056"
}