{
    "disease_id": "DOID:0060019",
    "recommended_name": {
        "id": "DOID:0060019",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060019",
        "name": "coronin-1A deficiency",
        "description": "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs."
    },
    "synonyms": [
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "severe combined immunodeficiency due to CORO1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "SCID due to CORO1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "SCID due to coronin-1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "coronin-1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "immunodeficiency type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "severe combined immunodeficiency due to CORO1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "severe combined immunodeficiency due to coronin-1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "IMD8",
            "description": ""
        },
        {
            "id": "MONDO:0014168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "name": "immunodeficiency 8",
            "description": ""
        },
        {
            "id": "MIM:615401",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615401",
            "name": "Immunodeficiency 8 with lymphoproliferation",
            "description": "Immunodeficiency 8 with lymphoproliferation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060019"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060019",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060019",
            "categories": []
        },
        {
            "id": "MONDO:0014168",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014168",
            "categories": []
        },
        {
            "id": "MIM:615401",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615401",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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",
            "evidence": [
                {
                    "id": "0060019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31146-1",
            "uniprot_ac": "P31146",
            "uniprot_id": "COR1A_HUMAN",
            "refseq_ac": "NP_001180262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "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, actin binding protein, 1A",
                    "type": "synonym"
                },
                {
                    "name": "coronin-1A",
                    "type": "synonym"
                },
                {
                    "name": "coronin-1",
                    "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": "CLIPINA",
                    "type": "synonym"
                },
                {
                    "name": "CORO1A",
                    "type": "synonym"
                },
                {
                    "name": "CORO1",
                    "type": "synonym"
                },
                {
                    "name": "HCORO1",
                    "type": "synonym"
                },
                {
                    "name": "IMD8",
                    "type": "synonym"
                },
                {
                    "name": "TACO",
                    "type": "synonym"
                },
                {
                    "name": "p57",
                    "type": "synonym"
                }
            ],
            "record_id": "P31146-1",
            "evidence": [
                {
                    "id": "615401",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615401"
                },
                {
                    "id": "0060019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06440-1",
            "uniprot_ac": "Q06440",
            "uniprot_id": "CORO_YEAST",
            "refseq_ac": "NP_013533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coronin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "coronin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRN1",
                    "type": "recommended"
                },
                {
                    "name": "CRN1",
                    "type": "synonym"
                },
                {
                    "name": "L9576.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06440-1",
            "evidence": [
                {
                    "id": "0060019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZN1-1",
            "uniprot_ac": "Q91ZN1",
            "uniprot_id": "COR1A_RAT",
            "refseq_ac": "NP_569095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coronin-1A",
                    "type": "recommended"
                },
                {
                    "name": "Clipin-A",
                    "type": "synonym"
                },
                {
                    "name": "Coronin-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "TACO",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan aspartate-containing coat protein",
                    "type": "synonym"
                },
                {
                    "name": "clipin-A",
                    "type": "synonym"
                },
                {
                    "name": "coronin, actin binding protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "coronin-1A",
                    "type": "synonym"
                },
                {
                    "name": "coronin-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan aspartate-containing coat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coro1a",
                    "type": "recommended"
                },
                {
                    "name": "Coro1a",
                    "type": "synonym"
                },
                {
                    "name": "Coro1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZN1-1",
            "evidence": [
                {
                    "id": "0060019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63474-1",
            "uniprot_ac": "Q63474",
            "uniprot_id": "DDR1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q63474-1",
            "evidence": [
                {
                    "id": "0060019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KEJ7-1",
            "uniprot_ac": "A0A0B4KEJ7",
            "uniprot_id": "A0A0B4KEJ7_DROME",
            "refseq_ac": "NP_001260743",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coronin",
                    "type": "recommended"
                },
                {
                    "name": "CG9446-PE",
                    "type": "synonym"
                },
                {
                    "name": "coro-PE",
                    "type": "synonym"
                },
                {
                    "name": "coronin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "coronin",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k08011",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coro",
                    "type": "recommended"
                },
                {
                    "name": "CG9446",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9446",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9446",
                    "type": "synonym"
                },
                {
                    "name": "coro",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08011",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KEJ7-1",
            "evidence": [
                {
                    "id": "0060019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060019"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060019"
}