{
    "disease_id": "DOID:0061161",
    "recommended_name": {
        "id": "DOID:0061161",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061161",
        "name": "infantile onset multisystem autoimmune disease 2",
        "description": "An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "autoimmune disease, multisystem, infantile-onset, 2",
            "description": "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene."
        },
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "ADMIO2",
            "description": ""
        },
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "ZAP70 autoimmune disease, multisystem, infantile-onset",
            "description": ""
        },
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70",
            "description": ""
        },
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "autoimmune disease, multisystem, infantile-onset, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "autoimmune disease, multisystem, infantile-onset, 2; ADMIO2",
            "description": ""
        },
        {
            "id": "MONDO:0014861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "name": "autoimmune disease, multisystem, infantile-onset, type 2",
            "description": ""
        },
        {
            "id": "MIM:617006",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617006",
            "name": "Autoimmune disease, multisystem, infantile-onset, 2",
            "description": "Autoimmune disease, multisystem, infantile-onset, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061161"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061161",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061161",
            "categories": []
        },
        {
            "id": "MONDO:0014861",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014861",
            "categories": []
        },
        {
            "id": "MIM:617006",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617006",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P43404-1",
            "uniprot_ac": "P43404",
            "uniprot_id": "ZAP70_MOUSE",
            "refseq_ac": "NP_001276541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase ZAP-70",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa zeta-chain associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Syk-related tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "syk-related tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ZAP-70 isoform TZK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ZAP-70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zap70",
                    "type": "recommended"
                },
                {
                    "name": "Srk",
                    "type": "synonym"
                },
                {
                    "name": "ZAP-70",
                    "type": "synonym"
                },
                {
                    "name": "Zap-70",
                    "type": "synonym"
                },
                {
                    "name": "Zap70",
                    "type": "synonym"
                },
                {
                    "name": "mrtle",
                    "type": "synonym"
                },
                {
                    "name": "mur",
                    "type": "synonym"
                }
            ],
            "record_id": "P43404-1",
            "evidence": [
                {
                    "id": "0061161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43403-1",
            "uniprot_ac": "P43403",
            "uniprot_id": "ZAP70_HUMAN",
            "refseq_ac": "NP_001070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase ZAP-70",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa zeta-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa zeta-chain associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Syk-related tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "syk-related tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ZAP-70 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ZAP-70",
                    "type": "synonym"
                },
                {
                    "name": "zeta chain of T cell receptor associated protein kinase 70kDa",
                    "type": "synonym"
                },
                {
                    "name": "zeta-chain (TCR) associated protein kinase 70kDa",
                    "type": "synonym"
                },
                {
                    "name": "zeta-chain associated protein kinase, 70kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZAP70",
                    "type": "recommended"
                },
                {
                    "name": "ADMIO2",
                    "type": "synonym"
                },
                {
                    "name": "IMD48",
                    "type": "synonym"
                },
                {
                    "name": "SRK",
                    "type": "synonym"
                },
                {
                    "name": "STCD",
                    "type": "synonym"
                },
                {
                    "name": "STD",
                    "type": "synonym"
                },
                {
                    "name": "TZK",
                    "type": "synonym"
                },
                {
                    "name": "ZAP-70",
                    "type": "synonym"
                },
                {
                    "name": "ZAP70",
                    "type": "synonym"
                }
            ],
            "record_id": "P43403-1",
            "evidence": [
                {
                    "id": "617006",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617006"
                },
                {
                    "id": "0061161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4J8U1-1",
            "uniprot_ac": "A0A0R4J8U1",
            "uniprot_id": "A0A0R4J8U1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zap70",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0R4J8U1-1",
            "evidence": [
                {
                    "id": "0061161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24145-1",
            "uniprot_ac": "Q24145",
            "uniprot_id": "SHARK_DROME",
            "refseq_ac": "NP_524743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Shark",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "CG18247-PA",
                    "type": "synonym"
                },
                {
                    "name": "SH2 ankyrin repeat kinase",
                    "type": "synonym"
                },
                {
                    "name": "Shark-PA",
                    "type": "synonym"
                },
                {
                    "name": "Src homology 2 ankyrin repeat tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Src homology 2, ankyrin repeat, tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Src homology2, ankyrin repeat, tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shark",
                    "type": "recommended"
                },
                {
                    "name": "CG18247",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18247",
                    "type": "synonym"
                },
                {
                    "name": "Dtk7",
                    "type": "synonym"
                },
                {
                    "name": "SHARK",
                    "type": "synonym"
                },
                {
                    "name": "SYK/SHARK",
                    "type": "synonym"
                },
                {
                    "name": "Shark",
                    "type": "synonym"
                },
                {
                    "name": "Syk",
                    "type": "synonym"
                },
                {
                    "name": "Tk7",
                    "type": "synonym"
                },
                {
                    "name": "dShark",
                    "type": "synonym"
                },
                {
                    "name": "dtk7",
                    "type": "synonym"
                },
                {
                    "name": "l(2)W4",
                    "type": "synonym"
                },
                {
                    "name": "l(2R)W4",
                    "type": "synonym"
                },
                {
                    "name": "shark",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24145-1",
            "evidence": [
                {
                    "id": "0061161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061161"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061161"
}