{
    "disease_id": "DOID:0081343",
    "recommended_name": {
        "id": "DOID:0081343",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081343",
        "name": "congenital myopathy 9A",
        "description": "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "MONDO:0032936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032936",
            "name": "myopathy, congenital, with respiratory insufficiency and bone fractures",
            "description": ""
        },
        {
            "id": "MONDO:0032936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032936",
            "name": "MYORIBF",
            "description": ""
        },
        {
            "id": "MIM:618822",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618822",
            "name": "Congenital myopathy 9A",
            "description": "Congenital myopathy 9A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081343"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081343",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081343",
            "categories": []
        },
        {
            "id": "MONDO:0032936",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032936",
            "categories": []
        },
        {
            "id": "MIM:618822",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618822",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QLR3-1",
            "uniprot_ac": "F1QLR3",
            "uniprot_id": "FXR1_DANRE",
            "refseq_ac": "NP_958458",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "recommended"
                },
                {
                    "name": "FMR1 autosomal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation syndrome-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fxr1",
                    "type": "recommended"
                },
                {
                    "name": "fxr1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb16f11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd18c10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66226",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QLR3-1",
            "evidence": [
                {
                    "id": "0081343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61584-1",
            "uniprot_ac": "Q61584",
            "uniprot_id": "FXR1_MOUSE",
            "refseq_ac": "NP_001106659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "recommended"
                },
                {
                    "name": "FXR1P",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "synonym"
                },
                {
                    "name": "mFxr1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fxr1",
                    "type": "recommended"
                },
                {
                    "name": "1110050J02Rik",
                    "type": "synonym"
                },
                {
                    "name": "9530073J07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fxr1h",
                    "type": "synonym"
                },
                {
                    "name": "Fxr1p",
                    "type": "synonym"
                },
                {
                    "name": "Fxr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61584-1",
            "evidence": [
                {
                    "id": "0081343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51114-1",
            "uniprot_ac": "P51114",
            "uniprot_id": "FXR1_HUMAN",
            "refseq_ac": "NP_001013456",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "recommended"
                },
                {
                    "name": "FMR1 autosomal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "FMR1 autosomal protein-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "synonym"
                },
                {
                    "name": "hFXR1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FXR1",
                    "type": "recommended"
                },
                {
                    "name": "CMYO9A",
                    "type": "synonym"
                },
                {
                    "name": "CMYO9B",
                    "type": "synonym"
                },
                {
                    "name": "CMYP9A",
                    "type": "synonym"
                },
                {
                    "name": "CMYP9B",
                    "type": "synonym"
                },
                {
                    "name": "FXR1P",
                    "type": "synonym"
                },
                {
                    "name": "FXR1",
                    "type": "synonym"
                },
                {
                    "name": "MYOPMIL",
                    "type": "synonym"
                },
                {
                    "name": "MYORIBF",
                    "type": "synonym"
                }
            ],
            "record_id": "P51114-1",
            "evidence": [
                {
                    "id": "618822",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618822"
                },
                {
                    "id": "0081343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI81-1",
            "uniprot_ac": "Q5XI81",
            "uniprot_id": "FXR1_RAT",
            "refseq_ac": "NP_001012179",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "recommended"
                },
                {
                    "name": "FMR1 autosomal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein FXR1",
                    "type": "synonym"
                },
                {
                    "name": "rCG41429-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fxr1",
                    "type": "recommended"
                },
                {
                    "name": "Fxr1h",
                    "type": "synonym"
                },
                {
                    "name": "Fxr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI81-1",
            "evidence": [
                {
                    "id": "0081343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NFU0-1",
            "uniprot_ac": "Q9NFU0",
            "uniprot_id": "FMR1_DROME",
            "refseq_ac": "NP_001303443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fragile X messenger ribonucleoprotein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG6203-PJ",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fmr1-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-X mental retardation 1",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-X mental retardation protein",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-X-related",
                    "type": "synonym"
                },
                {
                    "name": "cg 6203 gene product from transcript cg6203-rc",
                    "type": "synonym"
                },
                {
                    "name": "dFMR1",
                    "type": "synonym"
                },
                {
                    "name": "dFMR",
                    "type": "synonym"
                },
                {
                    "name": "dFmr1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila fragile X mental retardation protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation gene",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation related 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X messenger ribonucleoprotein 1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "fragile X protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X related protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X retardation 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X-related",
                    "type": "synonym"
                },
                {
                    "name": "fragile x related",
                    "type": "synonym"
                },
                {
                    "name": "fragile-X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fmr1",
                    "type": "recommended"
                },
                {
                    "name": "AT24755",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM08679",
                    "type": "synonym"
                },
                {
                    "name": "CG6203",
                    "type": "synonym"
                },
                {
                    "name": "DFMRP",
                    "type": "synonym"
                },
                {
                    "name": "DFmr1",
                    "type": "synonym"
                },
                {
                    "name": "Dfmr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6203",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6203",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)3517",
                    "type": "synonym"
                },
                {
                    "name": "FMR1",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "FMRp",
                    "type": "synonym"
                },
                {
                    "name": "FMR",
                    "type": "synonym"
                },
                {
                    "name": "FXR",
                    "type": "synonym"
                },
                {
                    "name": "Fmr1",
                    "type": "synonym"
                },
                {
                    "name": "Fmrp",
                    "type": "synonym"
                },
                {
                    "name": "cg6203",
                    "type": "synonym"
                },
                {
                    "name": "dFMR1",
                    "type": "synonym"
                },
                {
                    "name": "dFMRP",
                    "type": "synonym"
                },
                {
                    "name": "dFMR",
                    "type": "synonym"
                },
                {
                    "name": "dFXR1",
                    "type": "synonym"
                },
                {
                    "name": "dFXRP",
                    "type": "synonym"
                },
                {
                    "name": "dFXR",
                    "type": "synonym"
                },
                {
                    "name": "dFmr1",
                    "type": "synonym"
                },
                {
                    "name": "dFmrp",
                    "type": "synonym"
                },
                {
                    "name": "dfmr1",
                    "type": "synonym"
                },
                {
                    "name": "dfmr",
                    "type": "synonym"
                },
                {
                    "name": "dfxr1",
                    "type": "synonym"
                },
                {
                    "name": "dfxr",
                    "type": "synonym"
                },
                {
                    "name": "dmfr1",
                    "type": "synonym"
                },
                {
                    "name": "fmr1",
                    "type": "synonym"
                },
                {
                    "name": "fmr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NFU0-1",
            "evidence": [
                {
                    "id": "0081343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081343"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081343"
}