{
    "disease_id": "DOID:0111130",
    "recommended_name": {
        "id": "DOID:0111130",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111130",
        "name": "focal segmental glomerulosclerosis 5",
        "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111130",
            "name": "FSGS5",
            "description": ""
        },
        {
            "id": "MONDO:0013191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "name": "focal segmental glomerulosclerosis 5",
            "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene."
        },
        {
            "id": "MONDO:0013191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "name": "FSGS5",
            "description": ""
        },
        {
            "id": "MONDO:0013191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "name": "INF2 focal segmental glomerulosclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "name": "focal segmental glomerulosclerosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0013191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "name": "focal segmental glomerulosclerosis caused by mutation in INF2",
            "description": ""
        },
        {
            "id": "MONDO:0013191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "name": "focal segmental glomerulosclerosis type 5",
            "description": ""
        },
        {
            "id": "MIM:613237",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613237",
            "name": "Focal segmental glomerulosclerosis 5",
            "description": "Focal segmental glomerulosclerosis 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111130",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111130",
            "categories": []
        },
        {
            "id": "MONDO:0013191",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013191",
            "categories": []
        },
        {
            "id": "MIM:613237",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613237",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0GNC1-1",
            "uniprot_ac": "Q0GNC1",
            "uniprot_id": "INF2_MOUSE",
            "refseq_ac": "NP_940803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inverted formin-2",
                    "type": "recommended"
                },
                {
                    "name": "formin, inverted",
                    "type": "synonym"
                },
                {
                    "name": "inverted formin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inverted formin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Inf2",
                    "type": "recommended"
                },
                {
                    "name": "2610204M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "EG629699",
                    "type": "synonym"
                },
                {
                    "name": "Inf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0GNC1-1",
            "evidence": [
                {
                    "id": "0111130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27J81-1",
            "uniprot_ac": "Q27J81",
            "uniprot_id": "INF2_HUMAN",
            "refseq_ac": "NP_001026884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inverted formin-2",
                    "type": "recommended"
                },
                {
                    "name": "HBEAG-binding protein 2 binding protein C",
                    "type": "synonym"
                },
                {
                    "name": "HBEBP2-binding protein C",
                    "type": "synonym"
                },
                {
                    "name": "inverted formin, FH2 and WH2 domain containing",
                    "type": "synonym"
                },
                {
                    "name": "inverted formin-2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INF2",
                    "type": "recommended"
                },
                {
                    "name": "C14orf151",
                    "type": "synonym"
                },
                {
                    "name": "C14orf173",
                    "type": "synonym"
                },
                {
                    "name": "CMTDIE",
                    "type": "synonym"
                },
                {
                    "name": "FSGS5",
                    "type": "synonym"
                },
                {
                    "name": "INF2",
                    "type": "synonym"
                },
                {
                    "name": "pp9484",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27J81-1",
            "evidence": [
                {
                    "id": "613237",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613237"
                },
                {
                    "id": "0111130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LVR6-1",
            "uniprot_ac": "A0ABK0LVR6",
            "uniprot_id": "A0ABK0LVR6_RAT",
            "refseq_ac": "XP_063118223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inverted formin-2",
                    "type": "recommended"
                },
                {
                    "name": "inverted formin-2 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Inf2",
                    "type": "recommended"
                },
                {
                    "name": "Inf2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308350",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LVR6-1",
            "evidence": [
                {
                    "id": "0111130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNM1-1",
            "uniprot_ac": "A8JNM1",
            "uniprot_id": "A8JNM1_DROME",
            "refseq_ac": "NP_001097527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33556-PB",
                    "type": "synonym"
                },
                {
                    "name": "Formin 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "form3-PB",
                    "type": "synonym"
                },
                {
                    "name": "formin 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "formin3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "form3",
                    "type": "recommended"
                },
                {
                    "name": "CG14824",
                    "type": "synonym"
                },
                {
                    "name": "CG18138",
                    "type": "synonym"
                },
                {
                    "name": "CG32384",
                    "type": "synonym"
                },
                {
                    "name": "CG33556",
                    "type": "synonym"
                },
                {
                    "name": "CG8633",
                    "type": "synonym"
                },
                {
                    "name": "DIA-like",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33556",
                    "type": "synonym"
                },
                {
                    "name": "Form3",
                    "type": "synonym"
                },
                {
                    "name": "Formin3",
                    "type": "synonym"
                },
                {
                    "name": "INF2",
                    "type": "synonym"
                },
                {
                    "name": "ah1644",
                    "type": "synonym"
                },
                {
                    "name": "form3",
                    "type": "synonym"
                },
                {
                    "name": "formin/DIA-like",
                    "type": "synonym"
                },
                {
                    "name": "form",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNM1-1",
            "evidence": [
                {
                    "id": "0111130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111130"
}