{
    "disease_id": "DOID:0111998",
    "recommended_name": {
        "id": "DOID:0111998",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111998",
        "name": "immunodeficiency 66",
        "description": "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111998",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111998",
            "name": "IMD66",
            "description": ""
        },
        {
            "id": "MONDO:0030013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030013",
            "name": "immunodeficiency 66",
            "description": ""
        },
        {
            "id": "MONDO:0030013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030013",
            "name": "IMD66",
            "description": ""
        },
        {
            "id": "MONDO:0030013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030013",
            "name": "IMMUNODEFICIENCY 66",
            "description": ""
        },
        {
            "id": "MONDO:0030013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030013",
            "name": "immunodeficiency 66",
            "description": ""
        },
        {
            "id": "MIM:618847",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618847",
            "name": "Immunodeficiency 66",
            "description": "Immunodeficiency 66"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111998"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111998",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111998",
            "categories": []
        },
        {
            "id": "MONDO:0030013",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030013",
            "categories": []
        },
        {
            "id": "MIM:618847",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618847",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QIR6-1",
            "uniprot_ac": "A0A8M9QIR6",
            "uniprot_id": "A0A8M9QIR6_DANRE",
            "refseq_ac": "XP_021335791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin related transcription factor Ab isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myocardin related transcription factor Ab isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrtfab",
                    "type": "recommended"
                },
                {
                    "name": "fb39e12",
                    "type": "synonym"
                },
                {
                    "name": "mkl1b",
                    "type": "synonym"
                },
                {
                    "name": "mrtfab",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb39e12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QIR6-1",
            "evidence": [
                {
                    "id": "0111998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AQH5-1",
            "uniprot_ac": "A0A8M3AQH5",
            "uniprot_id": "A0A8M3AQH5_DANRE",
            "refseq_ac": "XP_073800520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin-related transcription factor A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myocardin-related transcription factor A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrtfaa",
                    "type": "recommended"
                },
                {
                    "name": "mrtfaa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AQH5-1",
            "evidence": [
                {
                    "id": "0111998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4J6-1",
            "uniprot_ac": "Q8K4J6",
            "uniprot_id": "MRTFA_MOUSE",
            "refseq_ac": "NP_694629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin-related transcription factor A",
                    "type": "recommended"
                },
                {
                    "name": "Basic SAP coiled-coil transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "MKL (megakaryoblastic leukemia)/myocardin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "MKL/myocardin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MRTF-A",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryoblastic leukemia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocytic acute leukemia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "basic SAP and coiled-coil domains",
                    "type": "synonym"
                },
                {
                    "name": "basic SAP coiled-coil transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "megakaryoblastic leukemia (translocation) 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocytic acute leukemia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "myocardial related transcription factor A",
                    "type": "synonym"
                },
                {
                    "name": "myocardin-related transcription factor A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrtfa",
                    "type": "recommended"
                },
                {
                    "name": "AMKL",
                    "type": "synonym"
                },
                {
                    "name": "Bsac",
                    "type": "synonym"
                },
                {
                    "name": "Mal",
                    "type": "synonym"
                },
                {
                    "name": "Mkl1",
                    "type": "synonym"
                },
                {
                    "name": "Mrtf-A",
                    "type": "synonym"
                },
                {
                    "name": "Mrtfa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4J6-1",
            "evidence": [
                {
                    "id": "0111998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969V6-1",
            "uniprot_ac": "Q969V6",
            "uniprot_id": "MRTFA_HUMAN",
            "refseq_ac": "NP_001269589",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin-related transcription factor A",
                    "type": "recommended"
                },
                {
                    "name": "MKL/myocardin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MRTF-A",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryoblastic leukemia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocytic acute leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "alternative protein MKL1",
                    "type": "synonym"
                },
                {
                    "name": "basic, SAP and coiled-coil domain",
                    "type": "synonym"
                },
                {
                    "name": "megakaryoblastic leukemia (translocation) 1",
                    "type": "synonym"
                },
                {
                    "name": "megakaryoblastic leukemia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocytic acute leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "myocardin-related transcription factor A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRTFA",
                    "type": "recommended"
                },
                {
                    "name": "BSAC",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1438",
                    "type": "synonym"
                },
                {
                    "name": "MAL",
                    "type": "synonym"
                },
                {
                    "name": "MKL1",
                    "type": "synonym"
                },
                {
                    "name": "MKL",
                    "type": "synonym"
                },
                {
                    "name": "MRTF-A",
                    "type": "synonym"
                },
                {
                    "name": "MRTFA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969V6-1",
            "evidence": [
                {
                    "id": "618847",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618847"
                },
                {
                    "id": "0111998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y2C3-1",
            "uniprot_ac": "A0A8I5Y2C3",
            "uniprot_id": "A0A8I5Y2C3_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": "Myocardin related transcription factor A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrtfa",
                    "type": "recommended"
                },
                {
                    "name": "Mkl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y2C3-1",
            "evidence": [
                {
                    "id": "0111998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z043-1",
            "uniprot_ac": "B7Z043",
            "uniprot_id": "B7Z043_DROME",
            "refseq_ac": "NP_001137879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32296-PH",
                    "type": "synonym"
                },
                {
                    "name": "Mrtf-PH",
                    "type": "synonym"
                },
                {
                    "name": "Myocardin-related transcription factor, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "myocardin-related transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrtf",
                    "type": "recommended"
                },
                {
                    "name": "CG12188",
                    "type": "synonym"
                },
                {
                    "name": "CG14951",
                    "type": "synonym"
                },
                {
                    "name": "CG32296",
                    "type": "synonym"
                },
                {
                    "name": "DMRTF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32296",
                    "type": "synonym"
                },
                {
                    "name": "MAL-D",
                    "type": "synonym"
                },
                {
                    "name": "MRTF",
                    "type": "synonym"
                },
                {
                    "name": "Mal-D",
                    "type": "synonym"
                },
                {
                    "name": "Mrtf",
                    "type": "synonym"
                },
                {
                    "name": "dMRTF",
                    "type": "synonym"
                },
                {
                    "name": "dMrtf",
                    "type": "synonym"
                },
                {
                    "name": "mal-d",
                    "type": "synonym"
                },
                {
                    "name": "mal",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z043-1",
            "evidence": [
                {
                    "id": "0111998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111998"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111998"
}