{
    "disease_id": "DOID:0090014",
    "recommended_name": {
        "id": "DOID:0090014",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090014",
        "name": "severe combined immunodeficiency 104",
        "description": "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "name": "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID",
            "description": ""
        },
        {
            "id": "DOID:0090014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive",
            "description": ""
        },
        {
            "id": "DOID:0090014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "name": "interleukin-7 receptor alpha deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "immunodeficiency 104",
            "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "IMD104",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive",
            "description": ""
        },
        {
            "id": "MIM:608971",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608971",
            "name": "Immunodeficiency 104, severe combined",
            "description": "Immunodeficiency 104, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090014"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090014",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "categories": []
        },
        {
            "id": "MONDO:0012163",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "categories": []
        },
        {
            "id": "MIM:608971",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608971",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "E9QDP8",
            "uniprot_id": "E9QDP8_DANRE",
            "refseq_ac": "NP_001106979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-7 receptor subunit alpha isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-7 receptor subunit alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 7 receptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-7 receptor subunit alpha precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il7r",
                    "type": "recommended"
                },
                {
                    "name": "il-7ra",
                    "type": "synonym"
                },
                {
                    "name": "il7r",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QDP8-1",
            "evidence": [
                {
                    "id": "0090014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
        },
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            "uniprot_canonical_ac": "B0V237-1",
            "uniprot_ac": "B0V237",
            "uniprot_id": "B0V237_DANRE",
            "refseq_ac": "XP_002663133",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "jak3",
                    "type": "recommended"
                },
                {
                    "name": "jak3",
                    "type": "synonym"
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            ],
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                    "id": "0090014",
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            ]
        },
        {
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            "uniprot_ac": "Q62137",
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            "refseq_ac": "NP_001177759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Tyrosine-protein kinase JAK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "JAK-3",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Jak3",
                    "type": "recommended"
                },
                {
                    "name": "Jak3",
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                },
                {
                    "name": "fae",
                    "type": "synonym"
                },
                {
                    "name": "wil",
                    "type": "synonym"
                }
            ],
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                    "id": "0090014",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89053-1",
            "uniprot_ac": "O89053",
            "uniprot_id": "COR1A_MOUSE",
            "refseq_ac": "NP_001288303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coronin-1A",
                    "type": "recommended"
                },
                {
                    "name": "Clipin-A",
                    "type": "synonym"
                },
                {
                    "name": "Coronin-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "Coronin-like protein p57",
                    "type": "synonym"
                },
                {
                    "name": "TACO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan aspartate-containing coat protein",
                    "type": "synonym"
                },
                {
                    "name": "clipin-A",
                    "type": "synonym"
                },
                {
                    "name": "coronin 1",
                    "type": "synonym"
                },
                {
                    "name": "coronin-1A",
                    "type": "synonym"
                },
                {
                    "name": "coronin-like actin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "coronin-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "coronin-like protein p57",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan aspartate-containing coat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coro1a",
                    "type": "recommended"
                },
                {
                    "name": "Clabp",
                    "type": "synonym"
                },
                {
                    "name": "Coro1a",
                    "type": "synonym"
                },
                {
                    "name": "Coro1",
                    "type": "synonym"
                },
                {
                    "name": "Lmb3",
                    "type": "synonym"
                },
                {
                    "name": "TACO",
                    "type": "synonym"
                },
                {
                    "name": "p57",
                    "type": "synonym"
                }
            ],
            "record_id": "O89053-1",
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                {
                    "id": "0090014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
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        {
            "uniprot_canonical_ac": "P16872-1",
            "uniprot_ac": "P16872",
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            "refseq_ac": "NP_032398",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-7 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-7 receptor alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "IL-7 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 7 receptor alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-7 receptor subunit alpha isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-7 receptor subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il7r",
                    "type": "recommended"
                },
                {
                    "name": "CD127",
                    "type": "synonym"
                },
                {
                    "name": "IL-7Ralpha",
                    "type": "synonym"
                },
                {
                    "name": "Il7r",
                    "type": "synonym"
                }
            ],
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                    "id": "0090014",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
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            "uniprot_canonical_ac": "P16871-1",
            "uniprot_ac": "P16871",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-7 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "CD127 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CDw127",
                    "type": "synonym"
                },
                {
                    "name": "IL-7 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 7 receptor alpha chain",
                    "type": "synonym"
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                {
                    "name": "interleukin-7 receptor subunit alpha isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-7 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "soluble interleukin-7 receptor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "IL7R",
                    "type": "recommended"
                },
                {
                    "name": "CD127",
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                },
                {
                    "name": "CDW127",
                    "type": "synonym"
                },
                {
                    "name": "IL-7R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-7Ralpha",
                    "type": "synonym"
                },
                {
                    "name": "IL7RA",
                    "type": "synonym"
                },
                {
                    "name": "IL7Ralpha",
                    "type": "synonym"
                },
                {
                    "name": "IL7R",
                    "type": "synonym"
                },
                {
                    "name": "ILRA",
                    "type": "synonym"
                },
                {
                    "name": "IMD104",
                    "type": "synonym"
                },
                {
                    "name": "lnc-IL7R",
                    "type": "synonym"
                },
                {
                    "name": "sIL-7R",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "608971",
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                },
                {
                    "id": "0090014",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06440-1",
            "uniprot_ac": "Q06440",
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            "refseq_ac": "NP_013533",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Coronin-like protein",
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                },
                {
                    "name": "coronin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CRN1",
                    "type": "recommended"
                },
                {
                    "name": "CRN1",
                    "type": "synonym"
                },
                {
                    "name": "L9576.2",
                    "type": "synonym"
                }
            ],
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                    "id": "0090014",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
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            "uniprot_canonical_ac": "D4A3X8-1",
            "uniprot_ac": "D4A3X8",
            "uniprot_id": "D4A3X8_RAT",
            "refseq_ac": "",
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                {
                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Interleukin-7 receptor subunit alpha",
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                {
                    "name": "Il7r",
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                    "id": "0090014",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
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            "uniprot_canonical_ac": "Q91ZN1-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Coronin-1A",
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                {
                    "name": "Clipin-A",
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                },
                {
                    "name": "Coronin-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "TACO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan aspartate-containing coat protein",
                    "type": "synonym"
                },
                {
                    "name": "clipin-A",
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                },
                {
                    "name": "coronin, actin binding protein 1A",
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                },
                {
                    "name": "coronin-1A",
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                {
                    "name": "coronin-like protein A",
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                {
                    "name": "tryptophan aspartate-containing coat protein",
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                    "name": "Coro1a",
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                    "name": "Coro1a",
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                },
                {
                    "name": "Coro1",
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                    "id": "0090014",
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            "uniprot_canonical_ac": "Q63272-1",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Tyrosine-protein kinase JAK3",
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                    "name": "JAK-3",
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                {
                    "name": "Janus kinase 3, protein-tyrosine kinase",
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                {
                    "name": "Janus kinase 3",
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                {
                    "name": "tyrosine-protein kinase JAK3",
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                }
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                    "name": "Jak3",
                    "type": "recommended"
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                {
                    "name": "Insl3",
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                    "name": "Jak3",
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                {
                    "name": "RATJAK3",
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                    "id": "0090014",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q63474-1",
            "uniprot_ac": "Q63474",
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            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Epithelial discoidin domain-containing receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD167 antigen-like family member A",
                    "type": "synonym"
                },
                {
                    "name": "Cell adhesion kinase",
                    "type": "synonym"
                },
                {
                    "name": "Discoidin receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial discoidin domain receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase DDR",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase CAK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddr1",
                    "type": "recommended"
                },
                {
                    "name": "Eddr1",
                    "type": "synonym"
                },
                {
                    "name": "Ptk3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0090014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KEJ7-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Coronin",
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                {
                    "name": "CG9446-PE",
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                },
                {
                    "name": "coro-PE",
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                {
                    "name": "coronin, isoform E",
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                },
                {
                    "name": "coronin",
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                },
                {
                    "name": "lethal (2) k08011",
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                }
            ],
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                {
                    "name": "coro",
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                {
                    "name": "CG9446",
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                },
                {
                    "name": "Dmel\\CG9446",
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                {
                    "name": "Dmel_CG9446",
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                {
                    "name": "coro",
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                {
                    "name": "l(2)k08011",
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                }
            ],
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                    "id": "0090014",
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                }
            ],
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                    "name": "Tyrosine-protein kinase hopscotch",
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                {
                    "name": "2.7.10.2",
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                },
                {
                    "name": "CG1594-PA",
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                {
                    "name": "Hop",
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                },
                {
                    "name": "JAK kinase",
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                {
                    "name": "Janus-family kinase",
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                {
                    "name": "hop-PA",
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                },
                {
                    "name": "hopscotch",
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                },
                {
                    "name": "hopskotch",
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                },
                {
                    "name": "janus kinase",
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                },
                {
                    "name": "locus 18",
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                {
                    "name": "tumorous",
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                }
            ],
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                {
                    "name": "hop",
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                    "name": "4",
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                    "name": "CG1594",
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                {
                    "name": "Dm JAK",
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                {
                    "name": "DmHD-160",
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                {
                    "name": "Dmel\\CG1594",
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                {
                    "name": "HD-160",
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                {
                    "name": "HOP",
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                    "name": "Hop1",
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                {
                    "name": "Hop2",
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                },
                {
                    "name": "Hop",
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                {
                    "name": "Hpo",
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                    "name": "JAK",
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                {
                    "name": "Jak",
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                },
                {
                    "name": "L4",
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                },
                {
                    "name": "Tum-1",
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                {
                    "name": "Tum",
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                    "name": "hop",
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                {
                    "name": "l(1)10Be",
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                {
                    "name": "l(1)G18",
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                {
                    "name": "l(1)L4",
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                },
                {
                    "name": "l(1)hop",
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                {
                    "name": "msvl",
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                }
            ],
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                    "id": "0090014",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "Dynein axonemal heavy chain 1",
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                {
                    "name": "Axonemal beta dynein heavy chain 1",
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                },
                {
                    "name": "Ciliary dynein heavy chain 1",
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                },
                {
                    "name": "HSRF-1",
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                },
                {
                    "name": "Heat shock regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 1",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 1",
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                {
                    "name": "dynein axonemal heavy chain 1",
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                },
                {
                    "name": "dynein heavy chain 1, axonemal",
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                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 1",
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                },
                {
                    "name": "hDHC7",
                    "type": "synonym"
                },
                {
                    "name": "heat shock regulated protein 1",
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                },
                {
                    "name": "testicular tissue protein Li 60",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DNAH1",
                    "type": "recommended"
                },
                {
                    "name": "CILD37",
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                },
                {
                    "name": "DHC7",
                    "type": "synonym"
                },
                {
                    "name": "DNAH1",
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                },
                {
                    "name": "DNAHC1",
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                },
                {
                    "name": "HDHC7",
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                {
                    "name": "HL-11",
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                },
                {
                    "name": "HL11",
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                },
                {
                    "name": "HSRF-1",
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                },
                {
                    "name": "KIAA1410",
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                {
                    "name": "SPGF18",
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                },
                {
                    "name": "XLHSRF-1",
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                }
            ],
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                    "id": "0090014",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P52333-1",
            "uniprot_ac": "P52333",
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                }
            ],
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                    "name": "Tyrosine-protein kinase JAK3",
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                {
                    "name": "JAK-3",
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                    "name": "Janus kinase 3 (a protein tyrosine kinase, leukocyte)",
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                {
                    "name": "Janus kinase 3",
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                {
                    "name": "L-JAK",
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                },
                {
                    "name": "Leukocyte janus kinase",
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                },
                {
                    "name": "leukocyte Janus kinase",
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                {
                    "name": "tyrosine-protein kinase JAK3",
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            ],
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                {
                    "name": "JAK3_HUMAN",
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                {
                    "name": "JAK3",
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                    "name": "JAKL",
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                {
                    "name": "LJAK",
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            ],
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                    "id": "0090014",
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                }
            ]
        },
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            ],
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                {
                    "name": "Coronin-like protein p57",
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                {
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                {
                    "name": "Tryptophan aspartate-containing coat protein",
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                {
                    "name": "coronin-like protein A",
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                {
                    "name": "coronin-like protein p57",
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                },
                {
                    "name": "tryptophan aspartate-containing coat protein",
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                }
            ],
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                    "name": "CORO1A",
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                    "name": "CLABP",
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                },
                {
                    "name": "CLIPINA",
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                },
                {
                    "name": "CORO1A",
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                },
                {
                    "name": "CORO1",
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                },
                {
                    "name": "HCORO1",
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                },
                {
                    "name": "IMD8",
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                {
                    "name": "TACO",
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                {
                    "name": "p57",
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                }
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                    "id": "0090014",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090014"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090014"
}