{
    "disease_id": "DOID:0080608",
    "recommended_name": {
        "id": "DOID:0080608",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080608",
        "name": "anterior segment dysgenesis 3",
        "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "anterior segment dysgenesis 3",
            "description": "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)"
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "ASGD3",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "FOXC1 iridogoniodysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "IGDA",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "IGDA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "IRID1",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "anterior segment dysgenesis 3",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "anterior segment dysgenesis 3, multiple subtypes",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "iridogoniodysgenesis anomaly, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "iridogoniodysgenesis caused by mutation in FOXC1",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "iridogoniodysgenesis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "iridogoniodysgenesis, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "glaucoma iridogoniodysgenesia",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "glaucoma iridogoniodysplasia, familial",
            "description": ""
        },
        {
            "id": "MONDO:0024456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "name": "iris hypoplasia with glaucoma",
            "description": ""
        },
        {
            "id": "MIM:601631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601631",
            "name": "Anterior segment dysgenesis 3",
            "description": "Anterior segment dysgenesis 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080608"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080608",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080608",
            "categories": []
        },
        {
            "id": "MONDO:0024456",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024456",
            "categories": []
        },
        {
            "id": "MIM:601631",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601631",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DE25-1",
            "uniprot_ac": "Q9DE25",
            "uniprot_id": "FXC1A_DANRE",
            "refseq_ac": "NP_571803",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box C1-A",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box C1-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxc1a",
                    "type": "recommended"
                },
                {
                    "name": "foxc1.1",
                    "type": "synonym"
                },
                {
                    "name": "foxc1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DE25-1",
            "evidence": [
                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DE24-1",
            "uniprot_ac": "Q9DE24",
            "uniprot_id": "FXC1B_DANRE",
            "refseq_ac": "NP_571804",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box C1-B",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box C1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxc1b",
                    "type": "recommended"
                },
                {
                    "name": "foxc1.2",
                    "type": "synonym"
                },
                {
                    "name": "foxc1b",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5079",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DE24-1",
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                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61572-1",
            "uniprot_ac": "Q61572",
            "uniprot_id": "FOXC1_MOUSE",
            "refseq_ac": "NP_032618",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein C1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-3",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL7",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "MF-1",
                    "type": "synonym"
                },
                {
                    "name": "Mesoderm/mesenchyme forkhead 1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor FKH-1",
                    "type": "synonym"
                },
                {
                    "name": "congenital hydrocephalus",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein C1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL7",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm/mesenchyme forkhead 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor FKH-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxc1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC3",
                    "type": "synonym"
                },
                {
                    "name": "Fkh1",
                    "type": "synonym"
                },
                {
                    "name": "Fkhl7",
                    "type": "synonym"
                },
                {
                    "name": "Foxc1",
                    "type": "synonym"
                },
                {
                    "name": "Freac3",
                    "type": "synonym"
                },
                {
                    "name": "Mf1",
                    "type": "synonym"
                },
                {
                    "name": "Mf4",
                    "type": "synonym"
                },
                {
                    "name": "ch",
                    "type": "synonym"
                },
                {
                    "name": "fkh-1",
                    "type": "synonym"
                },
                {
                    "name": "frkhda",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61572-1",
            "evidence": [
                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12948-1",
            "uniprot_ac": "Q12948",
            "uniprot_id": "FOXC1_HUMAN",
            "refseq_ac": "NP_001444",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein C1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-3",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL7",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box C1 protein",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein C1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead, drosophila, homolog-like 7",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related activator 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL7",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead/winged helix-like transcription factor 7",
                    "type": "synonym"
                },
                {
                    "name": "myeloid factor-delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXC1",
                    "type": "recommended"
                },
                {
                    "name": "ARA",
                    "type": "synonym"
                },
                {
                    "name": "ASGD3",
                    "type": "synonym"
                },
                {
                    "name": "FKHL7",
                    "type": "synonym"
                },
                {
                    "name": "FOXC1",
                    "type": "synonym"
                },
                {
                    "name": "FREAC-3",
                    "type": "synonym"
                },
                {
                    "name": "FREAC3",
                    "type": "synonym"
                },
                {
                    "name": "IGDA",
                    "type": "synonym"
                },
                {
                    "name": "IHG1",
                    "type": "synonym"
                },
                {
                    "name": "IRID1",
                    "type": "synonym"
                },
                {
                    "name": "RIEG3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12948-1",
            "evidence": [
                {
                    "id": "601631",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601631"
                },
                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40466-1",
            "uniprot_ac": "P40466",
            "uniprot_id": "FKH1_YEAST",
            "refseq_ac": "NP_012135",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fork head protein homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "forkhead family transcription factor FKH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKH1",
                    "type": "recommended"
                },
                {
                    "name": "FKH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40466-1",
            "evidence": [
                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LLL4-1",
            "uniprot_ac": "A0ABK0LLL4",
            "uniprot_id": "A0ABK0LLL4_RAT",
            "refseq_ac": "NP_599165",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box C1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein C1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxc1",
                    "type": "recommended"
                },
                {
                    "name": "Foxc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LLL4-1",
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                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32027-1",
            "uniprot_ac": "P32027",
            "uniprot_id": "CROC_DROME",
            "refseq_ac": "NP_524202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fork head domain-containing protein crocodile",
                    "type": "recommended"
                },
                {
                    "name": "CG5069-PA",
                    "type": "synonym"
                },
                {
                    "name": "FD1 transcription unit",
                    "type": "synonym"
                },
                {
                    "name": "FKH protein FD1",
                    "type": "synonym"
                },
                {
                    "name": "croc-PA",
                    "type": "synonym"
                },
                {
                    "name": "crocodile",
                    "type": "synonym"
                },
                {
                    "name": "forkhead domain 78E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "croc",
                    "type": "recommended"
                },
                {
                    "name": "CG5069",
                    "type": "synonym"
                },
                {
                    "name": "Croc",
                    "type": "synonym"
                },
                {
                    "name": "Dm-FoxC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5069",
                    "type": "synonym"
                },
                {
                    "name": "Dmfd1",
                    "type": "synonym"
                },
                {
                    "name": "FD1",
                    "type": "synonym"
                },
                {
                    "name": "FD78E",
                    "type": "synonym"
                },
                {
                    "name": "FoxC",
                    "type": "synonym"
                },
                {
                    "name": "croc",
                    "type": "synonym"
                },
                {
                    "name": "fd1",
                    "type": "synonym"
                },
                {
                    "name": "fd78E",
                    "type": "synonym"
                }
            ],
            "record_id": "P32027-1",
            "evidence": [
                {
                    "id": "0080608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080608"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080608"
}