{
    "disease_id": "DOID:0111405",
    "recommended_name": {
        "id": "DOID:0111405",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111405",
        "name": "Fraser syndrome 1",
        "description": "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111405",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111405",
            "name": "FRASRS1",
            "description": ""
        },
        {
            "id": "MONDO:0054737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054737",
            "name": "Fraser syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0054737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054737",
            "name": "Fraser syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0054737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054737",
            "name": "FRASRS1",
            "description": ""
        },
        {
            "id": "MIM:219000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219000",
            "name": "Fraser syndrome 1",
            "description": "Fraser syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111405"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111405",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111405",
            "categories": []
        },
        {
            "id": "MONDO:0054737",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054737",
            "categories": []
        },
        {
            "id": "MIM:219000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/219000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IQJ3-1",
            "uniprot_ac": "A0A0R4IQJ3",
            "uniprot_id": "A0A0R4IQJ3_DANRE",
            "refseq_ac": "XP_005165392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular matrix organizing protein FRAS1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fras1",
                    "type": "recommended"
                },
                {
                    "name": "fras1",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5080",
                    "type": "synonym"
                },
                {
                    "name": "pif",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-191a6.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc10b09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IQJ3-1",
            "evidence": [
                {
                    "id": "0111405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80T14-1",
            "uniprot_ac": "Q80T14",
            "uniprot_id": "FRAS1_MOUSE",
            "refseq_ac": "NP_780682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular matrix organizing protein FRAS1",
                    "type": "recommended"
                },
                {
                    "name": "Fraser syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fraser syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "blebbed",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix protein FRAS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fras1",
                    "type": "recommended"
                },
                {
                    "name": "E130113P14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fras1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1500",
                    "type": "synonym"
                },
                {
                    "name": "bl",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1500",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80T14-1",
            "evidence": [
                {
                    "id": "0111405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86XX4-1",
            "uniprot_ac": "Q86XX4",
            "uniprot_id": "FRAS1_HUMAN",
            "refseq_ac": "NP_001159605",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular matrix organizing protein FRAS1",
                    "type": "recommended"
                },
                {
                    "name": "Fraser syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Fraser syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix protein FRAS1",
                    "type": "synonym"
                },
                {
                    "name": "fraser syndrome 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRAS1",
                    "type": "recommended"
                },
                {
                    "name": "FRAS1",
                    "type": "synonym"
                },
                {
                    "name": "FRASRS1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1500",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86XX4-1",
            "evidence": [
                {
                    "id": "219000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/219000"
                },
                {
                    "id": "0111405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AIZ0-1",
            "uniprot_ac": "A0A8I6AIZ0",
            "uniprot_id": "A0A8I6AIZ0_RAT",
            "refseq_ac": "NP_001402015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular matrix organizing protein FRAS1",
                    "type": "recommended"
                },
                {
                    "name": "Fraser syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix organizing protein FRAS1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix protein FRAS1-like",
                    "type": "synonym"
                },
                {
                    "name": "extracellular matrix protein FRAS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fras1",
                    "type": "recommended"
                },
                {
                    "name": "Fras1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AIZ0-1",
            "evidence": [
                {
                    "id": "0111405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111405"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111405"
}