{
    "disease_id": "DOID:0111134",
    "recommended_name": {
        "id": "DOID:0111134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111134",
        "name": "focal segmental glomerulosclerosis 9",
        "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111134",
            "name": "FSGS9",
            "description": ""
        },
        {
            "id": "MONDO:0014539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "name": "focal segmental glomerulosclerosis 9",
            "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene."
        },
        {
            "id": "MONDO:0014539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "name": "CRB2 focal segmental glomerulosclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0014539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "name": "FSGS9",
            "description": ""
        },
        {
            "id": "MONDO:0014539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "name": "focal segmental glomerulosclerosis 9",
            "description": ""
        },
        {
            "id": "MONDO:0014539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "name": "focal segmental glomerulosclerosis caused by mutation in CRB2",
            "description": ""
        },
        {
            "id": "MONDO:0014539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "name": "focal segmental glomerulosclerosis type 9",
            "description": ""
        },
        {
            "id": "MIM:616220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616220",
            "name": "Focal segmental glomerulosclerosis 9",
            "description": "Focal segmental glomerulosclerosis 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111134",
            "categories": []
        },
        {
            "id": "MONDO:0014539",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014539",
            "categories": []
        },
        {
            "id": "MIM:616220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TWW2-1",
            "uniprot_ac": "A0AB32TWW2",
            "uniprot_id": "A0AB32TWW2_DANRE",
            "refseq_ac": "XP_068079104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 2b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Protein crumbs homolog 2b isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 2b isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crb2b",
                    "type": "recommended"
                },
                {
                    "name": "crb2b",
                    "type": "synonym"
                },
                {
                    "name": "crb2l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TWW2-1",
            "evidence": [
                {
                    "id": "0111134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YA8-1",
            "uniprot_ac": "Q80YA8",
            "uniprot_id": "CRUM2_MOUSE",
            "refseq_ac": "NP_001157038",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Crumbs-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "crumbs-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "crumbs2",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crb2",
                    "type": "recommended"
                },
                {
                    "name": "5930402A21",
                    "type": "synonym"
                },
                {
                    "name": "Crb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YA8-1",
            "evidence": [
                {
                    "id": "0111134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5IJ48-1",
            "uniprot_ac": "Q5IJ48",
            "uniprot_id": "CRUM2_HUMAN",
            "refseq_ac": "NP_775960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Crumbs-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "crumbs 2, cell polarity complex component",
                    "type": "synonym"
                },
                {
                    "name": "crumbs family member 2",
                    "type": "synonym"
                },
                {
                    "name": "crumbs-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRB2",
                    "type": "recommended"
                },
                {
                    "name": "CRB2",
                    "type": "synonym"
                },
                {
                    "name": "FSGS9",
                    "type": "synonym"
                },
                {
                    "name": "VMCKD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5IJ48-1",
            "evidence": [
                {
                    "id": "616220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616220"
                },
                {
                    "id": "0111134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L9U0-1",
            "uniprot_ac": "A0ABK0L9U0",
            "uniprot_id": "A0ABK0L9U0_RAT",
            "refseq_ac": "XP_063140332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Crumbs-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crb2",
                    "type": "recommended"
                },
                {
                    "name": "Crb2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309368",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L9U0-1",
            "evidence": [
                {
                    "id": "0111134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10040-1",
            "uniprot_ac": "P10040",
            "uniprot_id": "CRB_DROME",
            "refseq_ac": "NP_001036751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs",
                    "type": "recommended"
                },
                {
                    "name": "95F",
                    "type": "synonym"
                },
                {
                    "name": "CG6383-PB",
                    "type": "synonym"
                },
                {
                    "name": "crb-PB",
                    "type": "synonym"
                },
                {
                    "name": "crumbs, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "crumbs",
                    "type": "synonym"
                },
                {
                    "name": "fat rhabdomeres",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 07207",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crb",
                    "type": "recommended"
                },
                {
                    "name": "04",
                    "type": "synonym"
                },
                {
                    "name": "0509/20",
                    "type": "synonym"
                },
                {
                    "name": "1384/04",
                    "type": "synonym"
                },
                {
                    "name": "20",
                    "type": "synonym"
                },
                {
                    "name": "CG6383",
                    "type": "synonym"
                },
                {
                    "name": "CRB",
                    "type": "synonym"
                },
                {
                    "name": "CT19912",
                    "type": "synonym"
                },
                {
                    "name": "Crbs",
                    "type": "synonym"
                },
                {
                    "name": "Crb",
                    "type": "synonym"
                },
                {
                    "name": "Crumbs",
                    "type": "synonym"
                },
                {
                    "name": "DmCrb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6383",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6383",
                    "type": "synonym"
                },
                {
                    "name": "crb",
                    "type": "synonym"
                },
                {
                    "name": "crumb",
                    "type": "synonym"
                },
                {
                    "name": "far",
                    "type": "synonym"
                },
                {
                    "name": "l(3)07207",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S050920",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S058104",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j1B5",
                    "type": "synonym"
                }
            ],
            "record_id": "P10040-1",
            "evidence": [
                {
                    "id": "0111134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111134"
}
