{
    "disease_id": "DOID:0111131",
    "recommended_name": {
        "id": "DOID:0111131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111131",
        "name": "focal segmental glomerulosclerosis 6",
        "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111131",
            "name": "FSGS6",
            "description": ""
        },
        {
            "id": "MONDO:0013589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "name": "focal segmental glomerulosclerosis 6",
            "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene."
        },
        {
            "id": "MONDO:0013589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "name": "FSGS6",
            "description": ""
        },
        {
            "id": "MONDO:0013589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "name": "MYO1E focal segmental glomerulosclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "name": "focal segmental glomerulosclerosis 6",
            "description": ""
        },
        {
            "id": "MONDO:0013589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "name": "focal segmental glomerulosclerosis caused by mutation in MYO1E",
            "description": ""
        },
        {
            "id": "MONDO:0013589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "name": "focal segmental glomerulosclerosis type 6",
            "description": ""
        },
        {
            "id": "MIM:614131",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614131",
            "name": "Focal segmental glomerulosclerosis 6",
            "description": "Focal segmental glomerulosclerosis 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111131"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111131",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111131",
            "categories": []
        },
        {
            "id": "MONDO:0013589",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013589",
            "categories": []
        },
        {
            "id": "MIM:614131",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614131",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5T7-1",
            "uniprot_ac": "A0ACD6B5T7",
            "uniprot_id": "A0ACD6B5T7_DANRE",
            "refseq_ac": "XP_005168983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteoclast-stimulating factor 1",
                    "type": "recommended"
                },
                {
                    "name": "unconventional myosin-Ie isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo1ea",
                    "type": "recommended"
                },
                {
                    "name": "myo1ea",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5T7-1",
            "evidence": [
                {
                    "id": "0111131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q634-1",
            "uniprot_ac": "E9Q634",
            "uniprot_id": "MYO1E_MOUSE",
            "refseq_ac": "NP_851417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Ie",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin 1E",
                    "type": "synonym"
                },
                {
                    "name": "molecular motor",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin 1E",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Ie",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo1e",
                    "type": "recommended"
                },
                {
                    "name": "2310020N23Rik",
                    "type": "synonym"
                },
                {
                    "name": "9130023P14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Myo1e",
                    "type": "synonym"
                },
                {
                    "name": "Myr3",
                    "type": "synonym"
                },
                {
                    "name": "myosin-1e",
                    "type": "synonym"
                },
                {
                    "name": "myr 3",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q634-1",
            "evidence": [
                {
                    "id": "0111131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12965-1",
            "uniprot_ac": "Q12965",
            "uniprot_id": "MYO1E_HUMAN",
            "refseq_ac": "NP_004989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Ie",
                    "type": "recommended"
                },
                {
                    "name": "MYO1E variant protein",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-Ic",
                    "type": "synonym"
                },
                {
                    "name": "Unconventional myosin 1E",
                    "type": "synonym"
                },
                {
                    "name": "myosin-IC",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin 1E",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Ie",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO1E",
                    "type": "recommended"
                },
                {
                    "name": "FSGS6",
                    "type": "synonym"
                },
                {
                    "name": "HuncM-IC",
                    "type": "synonym"
                },
                {
                    "name": "MYO1C",
                    "type": "synonym"
                },
                {
                    "name": "MYO1E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12965-1",
            "evidence": [
                {
                    "id": "614131",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614131"
                },
                {
                    "id": "0111131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36006-1",
            "uniprot_ac": "P36006",
            "uniprot_id": "MYO3_YEAST",
            "refseq_ac": "NP_012793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-3",
                    "type": "recommended"
                },
                {
                    "name": "Actin-dependent myosin-I MYO3",
                    "type": "synonym"
                },
                {
                    "name": "Class I unconventional myosin MYO3",
                    "type": "synonym"
                },
                {
                    "name": "Type I myosin MYO3",
                    "type": "synonym"
                },
                {
                    "name": "myosin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO3",
                    "type": "recommended"
                },
                {
                    "name": "MYO3",
                    "type": "synonym"
                }
            ],
            "record_id": "P36006-1",
            "evidence": [
                {
                    "id": "0111131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04439-1",
            "uniprot_ac": "Q04439",
            "uniprot_id": "MYO5_YEAST",
            "refseq_ac": "NP_013827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-5",
                    "type": "recommended"
                },
                {
                    "name": "Actin-dependent myosin-I MYO5",
                    "type": "synonym"
                },
                {
                    "name": "Class I unconventional myosin MYO5",
                    "type": "synonym"
                },
                {
                    "name": "Type I myosin MYO5",
                    "type": "synonym"
                },
                {
                    "name": "myosin 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO5",
                    "type": "recommended"
                },
                {
                    "name": "MYO5",
                    "type": "synonym"
                },
                {
                    "name": "YM9718.08",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04439-1",
            "evidence": [
                {
                    "id": "0111131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63356-1",
            "uniprot_ac": "Q63356",
            "uniprot_id": "MYO1E_RAT",
            "refseq_ac": "NP_775124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Ie",
                    "type": "recommended"
                },
                {
                    "name": "Myosin heavy chain myr 3",
                    "type": "synonym"
                },
                {
                    "name": "Unconventional myosin 1E",
                    "type": "synonym"
                },
                {
                    "name": "Unconventional myosin from rat 5",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain myr 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin-Ie",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin 1E",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Ie",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo1e",
                    "type": "recommended"
                },
                {
                    "name": "MYR5",
                    "type": "synonym"
                },
                {
                    "name": "Myo1e",
                    "type": "synonym"
                },
                {
                    "name": "Myr3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63356-1",
            "evidence": [
                {
                    "id": "0111131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111131"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111131"
}