{
    "disease_id": "DOID:0081045",
    "recommended_name": {
        "id": "DOID:0081045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081045",
        "name": "frontonasal dysplasia 1",
        "description": "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081045",
            "name": "Frontorhiny",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "frontorhiny",
            "description": "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed."
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "ALX3-related frontonasal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "frontonasal dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "frontorhiny",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "isolated median cleft face syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "FND1",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "frontonasal dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "name": "isolated median cleft syndrome",
            "description": ""
        },
        {
            "id": "MIM:136760",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136760",
            "name": "Frontonasal dysplasia 1",
            "description": "Frontonasal dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081045"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081045",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081045",
            "categories": []
        },
        {
            "id": "MONDO:0007636",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007636",
            "categories": []
        },
        {
            "id": "MIM:136760",
            "database": "MIM",
            "url": "https://www.omim.org/entry/136760",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PL59-1",
            "uniprot_ac": "A0A8M9PL59",
            "uniprot_id": "A0A8M9PL59_DANRE",
            "refseq_ac": "XP_021327753",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein aristaless-like 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein aristaless-like 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alx3",
                    "type": "recommended"
                },
                {
                    "name": "alx3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PL59-1",
            "evidence": [
                {
                    "id": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70137-1",
            "uniprot_ac": "O70137",
            "uniprot_id": "ALX3_MOUSE",
            "refseq_ac": "NP_031467",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein aristaless-like 3",
                    "type": "recommended"
                },
                {
                    "name": "Proline-rich transcription factor ALX3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein aristaless-like 3",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich transcription factor Alx3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alx3",
                    "type": "recommended"
                },
                {
                    "name": "Alx3",
                    "type": "synonym"
                }
            ],
            "record_id": "O70137-1",
            "evidence": [
                {
                    "id": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95076-1",
            "uniprot_ac": "O95076",
            "uniprot_id": "ALX3_HUMAN",
            "refseq_ac": "NP_006483",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein aristaless-like 3",
                    "type": "recommended"
                },
                {
                    "name": "Proline-rich transcription factor ALX3",
                    "type": "synonym"
                },
                {
                    "name": "aristaless-like homeobox 3",
                    "type": "synonym"
                },
                {
                    "name": "frontonasal dysplasia",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein aristaless-like 3",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich transcription factor ALX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALX3",
                    "type": "recommended"
                },
                {
                    "name": "ALX3",
                    "type": "synonym"
                },
                {
                    "name": "FND1",
                    "type": "synonym"
                },
                {
                    "name": "FND",
                    "type": "synonym"
                }
            ],
            "record_id": "O95076-1",
            "evidence": [
                {
                    "id": "136760",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/136760"
                },
                {
                    "id": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        },
        {
            "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": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LN97-1",
            "uniprot_ac": "F1LN97",
            "uniprot_id": "F1LN97_RAT",
            "refseq_ac": "NP_001007013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALX homeobox 3",
                    "type": "synonym"
                },
                {
                    "name": "aristaless 3",
                    "type": "synonym"
                },
                {
                    "name": "aristaless-like homeobox 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein aristaless-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alx3",
                    "type": "recommended"
                },
                {
                    "name": "Alx3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LN97-1",
            "evidence": [
                {
                    "id": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        },
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            "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": "0081045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081045"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081045"
}