{
    "disease_id": "DOID:0111988",
    "recommended_name": {
        "id": "DOID:0111988",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111988",
        "name": "immunodeficiency 12",
        "description": "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111988",
            "name": "IMD12",
            "description": ""
        },
        {
            "id": "DOID:0111988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111988",
            "name": "combined immunodeficiency due to MALT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "combined immunodeficiency due to MALT1 deficiency",
            "description": "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "combined immunodeficiency due to MALT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "immunodeficiency type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "IMD12",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "immunodeficiency 12",
            "description": ""
        },
        {
            "id": "MIM:615468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615468",
            "name": "Immunodeficiency 12",
            "description": "Immunodeficiency 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111988"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111988",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111988",
            "categories": []
        },
        {
            "id": "MONDO:0014197",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "categories": []
        },
        {
            "id": "MIM:615468",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615468",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCW4-1",
            "uniprot_ac": "A0A8M2BCW4",
            "uniprot_id": "A0A8M2BCW4_DANRE",
            "refseq_ac": "XP_005165669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "malt1",
                    "type": "recommended"
                },
                {
                    "name": "malt1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCW4-1",
            "evidence": [
                {
                    "id": "0111988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TBA3-1",
            "uniprot_ac": "Q2TBA3",
            "uniprot_id": "MALT1_MOUSE",
            "refseq_ac": "NP_766421",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "Paracaspase",
                    "type": "synonym"
                },
                {
                    "name": "mucosa associated lymphoid tissue lymphoma translocation gene 1",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "paracaspase-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Malt1",
                    "type": "recommended"
                },
                {
                    "name": "A630046N12",
                    "type": "synonym"
                },
                {
                    "name": "D430033E09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Malt1",
                    "type": "synonym"
                },
                {
                    "name": "Pcasp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TBA3-1",
            "evidence": [
                {
                    "id": "0111988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UDY8-1",
            "uniprot_ac": "Q9UDY8",
            "uniprot_id": "MALT1_HUMAN",
            "refseq_ac": "NP_006776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "MALT lymphoma-associated translocation",
                    "type": "synonym"
                },
                {
                    "name": "MALT1 protease",
                    "type": "synonym"
                },
                {
                    "name": "Paracaspase",
                    "type": "synonym"
                },
                {
                    "name": "caspase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mucosa associated lymphoid tissue lymphoma translocation gene 1",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "paracaspase-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MALT1",
                    "type": "recommended"
                },
                {
                    "name": "IMD12",
                    "type": "synonym"
                },
                {
                    "name": "MALT1",
                    "type": "synonym"
                },
                {
                    "name": "MLT1",
                    "type": "synonym"
                },
                {
                    "name": "MLT",
                    "type": "synonym"
                },
                {
                    "name": "PCASP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UDY8-1",
            "evidence": [
                {
                    "id": "615468",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615468"
                },
                {
                    "id": "0111988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A980-1",
            "uniprot_ac": "D4A980",
            "uniprot_id": "D4A980_RAT",
            "refseq_ac": "NP_001406694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paracaspase",
                    "type": "recommended"
                },
                {
                    "name": "mucosa associated lymphoid tissue lymphoma translocation gene 1",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "paracaspase-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Malt1",
                    "type": "recommended"
                },
                {
                    "name": "Malt1",
                    "type": "synonym"
                },
                {
                    "name": "Pcasp1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A980-1",
            "evidence": [
                {
                    "id": "0111988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111988"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111988"
}