{
    "disease_id": "DOID:0081047",
    "recommended_name": {
        "id": "DOID:0081047",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081047",
        "name": "frontonasal dysplasia 3",
        "description": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013271",
            "name": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013271",
            "name": "ALX1-related frontonasal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013271",
            "name": "frontonasal dysplasia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013271",
            "name": "FND3",
            "description": ""
        },
        {
            "id": "MONDO:0013271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013271",
            "name": "frontonasal dysplasia 3",
            "description": ""
        },
        {
            "id": "MIM:613456",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613456",
            "name": "Frontonasal dysplasia 3",
            "description": "Frontonasal dysplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081047"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081047",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081047",
            "categories": []
        },
        {
            "id": "MONDO:0013271",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013271",
            "categories": []
        },
        {
            "id": "MIM:613456",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613456",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LVQ7-1",
            "uniprot_ac": "Q1LVQ7",
            "uniprot_id": "ALX1_DANRE",
            "refseq_ac": "NP_001038539",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALX homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ALX homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CART-1",
                    "type": "synonym"
                },
                {
                    "name": "Cartilage homeoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "cartilage paired-class homeoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alx1",
                    "type": "recommended"
                },
                {
                    "name": "CART-1",
                    "type": "synonym"
                },
                {
                    "name": "alx1",
                    "type": "synonym"
                },
                {
                    "name": "cart1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-154h20.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-66c4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LVQ7-1",
            "evidence": [
                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C8B0-1",
            "uniprot_ac": "Q8C8B0",
            "uniprot_id": "ALX1_MOUSE",
            "refseq_ac": "NP_766141",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALX homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ALX homeobox protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ALX homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CART-1",
                    "type": "synonym"
                },
                {
                    "name": "Cartilage homeoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "cartilage homeoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alx1",
                    "type": "recommended"
                },
                {
                    "name": "Alx1",
                    "type": "synonym"
                },
                {
                    "name": "C130005I02",
                    "type": "synonym"
                },
                {
                    "name": "Cart1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C8B0-1",
            "evidence": [
                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15699-1",
            "uniprot_ac": "Q15699",
            "uniprot_id": "ALX1_HUMAN",
            "refseq_ac": "NP_008913",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALX homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ALX homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CART-1",
                    "type": "synonym"
                },
                {
                    "name": "Cartilage homeoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "cartilage paired-class homeoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALX1",
                    "type": "recommended"
                },
                {
                    "name": "ALX1",
                    "type": "synonym"
                },
                {
                    "name": "CART1",
                    "type": "synonym"
                },
                {
                    "name": "FND3",
                    "type": "synonym"
                },
                {
                    "name": "HEL23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15699-1",
            "evidence": [
                {
                    "id": "613456",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613456"
                },
                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04116-1",
            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
            "refseq_ac": "NP_010739",
            "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": "Homeobox protein YHP1",
                    "type": "recommended"
                },
                {
                    "name": "Yhp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHP1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.36",
                    "type": "synonym"
                },
                {
                    "name": "YHP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04116-1",
            "evidence": [
                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63087-1",
            "uniprot_ac": "Q63087",
            "uniprot_id": "ALX1_RAT",
            "refseq_ac": "NP_037053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALX homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ALX homeobox protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CART-1",
                    "type": "synonym"
                },
                {
                    "name": "Cartilage homeoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "cartilage homeo protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cartilage homeoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alx1",
                    "type": "recommended"
                },
                {
                    "name": "Alx1",
                    "type": "synonym"
                },
                {
                    "name": "CART1X",
                    "type": "synonym"
                },
                {
                    "name": "Cart1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63087-1",
            "evidence": [
                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2P8-1",
            "uniprot_ac": "Q9W2P8",
            "uniprot_id": "Q9W2P8_DROME",
            "refseq_ac": "NP_788420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33152-PA",
                    "type": "synonym"
                },
                {
                    "name": "Homeobrain",
                    "type": "synonym"
                },
                {
                    "name": "hbn-PA",
                    "type": "synonym"
                },
                {
                    "name": "homeobrain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hbn",
                    "type": "recommended"
                },
                {
                    "name": "57San",
                    "type": "synonym"
                },
                {
                    "name": "CG10614",
                    "type": "synonym"
                },
                {
                    "name": "CG15647",
                    "type": "synonym"
                },
                {
                    "name": "CG15648",
                    "type": "synonym"
                },
                {
                    "name": "CG33152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33152",
                    "type": "synonym"
                },
                {
                    "name": "Hbn",
                    "type": "synonym"
                },
                {
                    "name": "hbn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2P8-1",
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                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZU0-1",
            "uniprot_ac": "Q9XZU0",
            "uniprot_id": "Q9XZU0_DROME",
            "refseq_ac": "NP_477330",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2819-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pph13-PA",
                    "type": "synonym"
                },
                {
                    "name": "PvuII-PstI homology 13",
                    "type": "synonym"
                },
                {
                    "name": "hazy",
                    "type": "synonym"
                },
                {
                    "name": "munster",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pph13",
                    "type": "recommended"
                },
                {
                    "name": "60Mun1",
                    "type": "synonym"
                },
                {
                    "name": "CG2819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2819",
                    "type": "synonym"
                },
                {
                    "name": "Mu",
                    "type": "synonym"
                },
                {
                    "name": "PPH13",
                    "type": "synonym"
                },
                {
                    "name": "Pph13",
                    "type": "synonym"
                },
                {
                    "name": "hazy",
                    "type": "synonym"
                },
                {
                    "name": "pph13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZU0-1",
            "evidence": [
                {
                    "id": "0081047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081047"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081047"
}