{
    "disease_id": "DOID:0111129",
    "recommended_name": {
        "id": "DOID:0111129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111129",
        "name": "focal segmental glomerulosclerosis 2",
        "description": "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111129",
            "name": "FSGS2",
            "description": ""
        },
        {
            "id": "MONDO:0011390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "name": "focal segmental glomerulosclerosis 2",
            "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene."
        },
        {
            "id": "MONDO:0011390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "name": "FSGS2",
            "description": ""
        },
        {
            "id": "MONDO:0011390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "name": "TRPC6 focal segmental glomerulosclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0011390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "name": "focal segmental glomerulosclerosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "name": "focal segmental glomerulosclerosis caused by mutation in TRPC6",
            "description": ""
        },
        {
            "id": "MONDO:0011390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "name": "focal segmental glomerulosclerosis type 2",
            "description": ""
        },
        {
            "id": "MIM:603965",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603965",
            "name": "Focal segmental glomerulosclerosis 2",
            "description": "Focal segmental glomerulosclerosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111129"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111129",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111129",
            "categories": []
        },
        {
            "id": "MONDO:0011390",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011390",
            "categories": []
        },
        {
            "id": "MIM:603965",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603965",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RKV1-1",
            "uniprot_ac": "A0A8M1RKV1",
            "uniprot_id": "A0A8M1RKV1_DANRE",
            "refseq_ac": "XP_002665445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 6",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpc6b",
                    "type": "recommended"
                },
                {
                    "name": "trpc6b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RKV1-1",
            "evidence": [
                {
                    "id": "0111129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61143-1",
            "uniprot_ac": "Q61143",
            "uniprot_id": "TRPC6_MOUSE",
            "refseq_ac": "NP_038866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 6",
                    "type": "recommended"
                },
                {
                    "name": "Calcium entry channel",
                    "type": "synonym"
                },
                {
                    "name": "TRP-6",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor protein 6",
                    "type": "synonym"
                },
                {
                    "name": "TrpC6",
                    "type": "synonym"
                },
                {
                    "name": "calcium entry channel",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 6",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpc6",
                    "type": "recommended"
                },
                {
                    "name": "LLHWJM002",
                    "type": "synonym"
                },
                {
                    "name": "LLHWJM003",
                    "type": "synonym"
                },
                {
                    "name": "LLHWJM004",
                    "type": "synonym"
                },
                {
                    "name": "TRP-6",
                    "type": "synonym"
                },
                {
                    "name": "Trp6",
                    "type": "synonym"
                },
                {
                    "name": "Trpc6",
                    "type": "synonym"
                },
                {
                    "name": "Trrp6",
                    "type": "synonym"
                },
                {
                    "name": "mtrp6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61143-1",
            "evidence": [
                {
                    "id": "0111129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y210-1",
            "uniprot_ac": "Q9Y210",
            "uniprot_id": "TRPC6_HUMAN",
            "refseq_ac": "NP_004612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 6",
                    "type": "recommended"
                },
                {
                    "name": "TRP-6",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor protein 6",
                    "type": "synonym"
                },
                {
                    "name": "TrpC6",
                    "type": "synonym"
                },
                {
                    "name": "focal segmental glomerulosclerosis 2",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 6",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPC6",
                    "type": "recommended"
                },
                {
                    "name": "FSGS2",
                    "type": "synonym"
                },
                {
                    "name": "TRP6",
                    "type": "synonym"
                },
                {
                    "name": "TRPC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y210-1",
            "evidence": [
                {
                    "id": "603965",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603965"
                },
                {
                    "id": "0111129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M635-1",
            "uniprot_ac": "A0ABK0M635",
            "uniprot_id": "A0ABK0M635_RAT",
            "refseq_ac": "NP_446011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel, subfamily C, member 6",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 6",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpc6",
                    "type": "recommended"
                },
                {
                    "name": "Trpc6",
                    "type": "synonym"
                },
                {
                    "name": "Trrp6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M635-1",
            "evidence": [
                {
                    "id": "0111129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111129"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111129"
}