{
    "disease_id": "DOID:0050438",
    "recommended_name": {
        "id": "DOID:0050438",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050438",
        "name": "Frasier syndrome",
        "description": "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0007635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007635",
            "name": "Frasier syndrome",
            "description": "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma."
        },
        {
            "id": "MONDO:0007635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007635",
            "name": "Frasier syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007635",
            "name": "Frasier syndrome, autosomal dominant, somatic mutation",
            "description": ""
        },
        {
            "id": "MIM:136680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136680",
            "name": "Frasier syndrome",
            "description": "Frasier syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050438"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050438",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050438",
            "categories": []
        },
        {
            "id": "MONDO:0007635",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007635",
            "categories": []
        },
        {
            "id": "MIM:136680",
            "database": "MIM",
            "url": "https://www.omim.org/entry/136680",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HU68-1",
            "uniprot_ac": "A0AC58HU68",
            "uniprot_id": "A0AC58HU68_DANRE",
            "refseq_ac": "XP_073785534",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WT1 transcription factor b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wt1b",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-160j6.3",
                    "type": "synonym"
                },
                {
                    "name": "wt1b",
                    "type": "synonym"
                },
                {
                    "name": "wt1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152697",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HU68-1",
            "evidence": [
                {
                    "id": "0050438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22561-1",
            "uniprot_ac": "P22561",
            "uniprot_id": "WT1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wilms tumor protein homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Wt1",
                    "type": "recommended"
                },
                {
                    "name": "Wt-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22561-1",
            "evidence": [
                {
                    "id": "0050438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19544-1",
            "uniprot_ac": "P19544",
            "uniprot_id": "WT1_HUMAN",
            "refseq_ac": "NP_001185480",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wilms tumor protein",
                    "type": "recommended"
                },
                {
                    "name": "WT33",
                    "type": "synonym"
                },
                {
                    "name": "Wilms tumor 1",
                    "type": "synonym"
                },
                {
                    "name": "Wilms tumor protein isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WT1",
                    "type": "recommended"
                },
                {
                    "name": "AWT1",
                    "type": "synonym"
                },
                {
                    "name": "GUD",
                    "type": "synonym"
                },
                {
                    "name": "NPHS4",
                    "type": "synonym"
                },
                {
                    "name": "WAGR",
                    "type": "synonym"
                },
                {
                    "name": "WIT-2",
                    "type": "synonym"
                },
                {
                    "name": "WT-1",
                    "type": "synonym"
                },
                {
                    "name": "WT1",
                    "type": "synonym"
                },
                {
                    "name": "WT33",
                    "type": "synonym"
                }
            ],
            "record_id": "P19544-1",
            "evidence": [
                {
                    "id": "136680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/136680"
                },
                {
                    "id": "0050438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49952-1",
            "uniprot_ac": "P49952",
            "uniprot_id": "WT1_RAT",
            "refseq_ac": "NP_113722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wilms tumor protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Wilms tumor 1",
                    "type": "synonym"
                },
                {
                    "name": "Wilms tumor protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wt1",
                    "type": "recommended"
                },
                {
                    "name": "Wt-1",
                    "type": "synonym"
                },
                {
                    "name": "Wt1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49952-1",
            "evidence": [
                {
                    "id": "0050438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95954-1",
            "uniprot_ac": "O95954",
            "uniprot_id": "FTCD_HUMAN",
            "refseq_ac": "NP_001307341",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formimidoyltransferase-cyclodeaminase",
                    "type": "recommended"
                },
                {
                    "name": "FTCD",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotetrahydrofolate cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formiminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "LCHC1",
                    "type": "synonym"
                },
                {
                    "name": "formimidoyltransferase-cyclodeaminase isoform C",
                    "type": "synonym"
                },
                {
                    "name": "formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FTCD",
                    "type": "recommended"
                },
                {
                    "name": "FTCD",
                    "type": "synonym"
                },
                {
                    "name": "LCHC1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95954-1",
            "evidence": [
                {
                    "id": "0050438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050438"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050438"
}