{
    "disease_id": "DOID:0111133",
    "recommended_name": {
        "id": "DOID:0111133",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111133",
        "name": "focal segmental glomerulosclerosis 8",
        "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111133",
            "name": "FSGS8",
            "description": ""
        },
        {
            "id": "MONDO:0014462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "name": "focal segmental glomerulosclerosis 8",
            "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene."
        },
        {
            "id": "MONDO:0014462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "name": "ANLN focal segmental glomerulosclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0014462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "name": "FSGS8",
            "description": ""
        },
        {
            "id": "MONDO:0014462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "name": "focal segmental glomerulosclerosis 8",
            "description": ""
        },
        {
            "id": "MONDO:0014462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "name": "focal segmental glomerulosclerosis caused by mutation in ANLN",
            "description": ""
        },
        {
            "id": "MONDO:0014462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "name": "focal segmental glomerulosclerosis type 8",
            "description": ""
        },
        {
            "id": "MIM:616032",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616032",
            "name": "Focal segmental glomerulosclerosis 8",
            "description": "Focal segmental glomerulosclerosis 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111133"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111133",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111133",
            "categories": []
        },
        {
            "id": "MONDO:0014462",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014462",
            "categories": []
        },
        {
            "id": "MIM:616032",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616032",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A286Y917-1",
            "uniprot_ac": "A0A286Y917",
            "uniprot_id": "A0A286Y917_DANRE",
            "refseq_ac": "XP_005159718",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin",
                    "type": "recommended"
                },
                {
                    "name": "anillin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anln",
                    "type": "recommended"
                },
                {
                    "name": "anln",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-197n10.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb74d05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd10d09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi41f04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A286Y917-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HTJ6-1",
            "uniprot_ac": "A0AC58HTJ6",
            "uniprot_id": "A0AC58HTJ6_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin, actin binding protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anln2",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-238c7.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-30c15.10",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-30c15.9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HTJ6-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K298-1",
            "uniprot_ac": "Q8K298",
            "uniprot_id": "ANLN_MOUSE",
            "refseq_ac": "NP_082666",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin",
                    "type": "recommended"
                },
                {
                    "name": "actin-binding protein anillin",
                    "type": "synonym"
                },
                {
                    "name": "anillin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "anillin, actin binding protein (scraps homolog, Drosophila)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Anln",
                    "type": "recommended"
                },
                {
                    "name": "1110037A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900037I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Anln",
                    "type": "synonym"
                },
                {
                    "name": "Scraps",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K298-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQW6-1",
            "uniprot_ac": "Q9NQW6",
            "uniprot_id": "ANLN_HUMAN",
            "refseq_ac": "NP_001271230",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin",
                    "type": "recommended"
                },
                {
                    "name": "anillin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANLN",
                    "type": "recommended"
                },
                {
                    "name": "ANLN",
                    "type": "synonym"
                },
                {
                    "name": "FSGS8",
                    "type": "synonym"
                },
                {
                    "name": "Scraps",
                    "type": "synonym"
                },
                {
                    "name": "scra",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQW6-1",
            "evidence": [
                {
                    "id": "616032",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616032"
                },
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R9N8-1",
            "uniprot_ac": "M0R9N8",
            "uniprot_id": "M0R9N8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Anlnl1",
                    "type": "recommended"
                }
            ],
            "record_id": "M0R9N8-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AE50-1",
            "uniprot_ac": "A0A8I6AE50",
            "uniprot_id": "A0A8I6AE50_RAT",
            "refseq_ac": "XP_038938195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin",
                    "type": "recommended"
                },
                {
                    "name": "anillin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Anln",
                    "type": "recommended"
                },
                {
                    "name": "Anln",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561367",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AE50-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1L2-1",
            "uniprot_ac": "Q9W1L2",
            "uniprot_id": "Q9W1L2_DROME",
            "refseq_ac": "NP_001137745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "PH domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG30183-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG4093",
                    "type": "recommended"
                },
                {
                    "name": "CG30183",
                    "type": "synonym"
                },
                {
                    "name": "CG4093",
                    "type": "synonym"
                },
                {
                    "name": "CG4530",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30183",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30183",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1L2-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4P1-1",
            "uniprot_ac": "Q9V4P1",
            "uniprot_id": "ANLN_DROME",
            "refseq_ac": "NP_724582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anillin",
                    "type": "recommended"
                },
                {
                    "name": "ABP8",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "CG2092-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein scraps",
                    "type": "synonym"
                },
                {
                    "name": "anillin",
                    "type": "synonym"
                },
                {
                    "name": "annilin",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k08255",
                    "type": "synonym"
                },
                {
                    "name": "scra-PB",
                    "type": "synonym"
                },
                {
                    "name": "scraps, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "scraps",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scra",
                    "type": "recommended"
                },
                {
                    "name": "ABP8",
                    "type": "synonym"
                },
                {
                    "name": "Abp8",
                    "type": "synonym"
                },
                {
                    "name": "Anillin",
                    "type": "synonym"
                },
                {
                    "name": "Anil",
                    "type": "synonym"
                },
                {
                    "name": "Ani",
                    "type": "synonym"
                },
                {
                    "name": "CG2092",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2092",
                    "type": "synonym"
                },
                {
                    "name": "Scra",
                    "type": "synonym"
                },
                {
                    "name": "anillin",
                    "type": "synonym"
                },
                {
                    "name": "anil",
                    "type": "synonym"
                },
                {
                    "name": "ani",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03427",
                    "type": "synonym"
                },
                {
                    "name": "l(2)43Ec",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08255",
                    "type": "synonym"
                },
                {
                    "name": "scra",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4P1-1",
            "evidence": [
                {
                    "id": "0111133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111133"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111133"
}