{
    "disease_id": "DOID:0090001",
    "recommended_name": {
        "id": "DOID:0090001",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090001",
        "name": "Fraser syndrome",
        "description": "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14."
    },
    "synonyms": [
        {
            "id": "DOID:0090001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090001",
            "name": "cryptophthalmos with other malformations",
            "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": "DOID:0111405",
            "label": "Fraser syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111406",
            "label": "Fraser syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111407",
            "label": "Fraser syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111407",
        "DOID:0111405",
        "DOID:0090001",
        "DOID:0111406"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090001",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090001",
            "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": "A0A8M1NUJ1-1",
            "uniprot_ac": "A0A8M1NUJ1",
            "uniprot_id": "A0A8M1NUJ1_DANRE",
            "refseq_ac": "NP_001177237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 1a precursor",
                    "type": "synonym"
                },
                {
                    "name": "Protein QBRICK",
                    "type": "synonym"
                },
                {
                    "name": "rafels",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frem1a",
                    "type": "recommended"
                },
                {
                    "name": "frem1a",
                    "type": "synonym"
                },
                {
                    "name": "rfl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NUJ1-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3ARI0-1",
            "uniprot_ac": "A0A8M3ARI0",
            "uniprot_id": "A0A8M3ARI0_DANRE",
            "refseq_ac": "XP_009298419",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor-interacting protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor-interacting protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grip1",
                    "type": "recommended"
                },
                {
                    "name": "grip1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-244b23.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-6a5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ARI0-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "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": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B5C5-1",
            "uniprot_ac": "A0ACD6B5C5",
            "uniprot_id": "A0ACD6B5C5_DANRE",
            "refseq_ac": "XP_005155437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frem2a",
                    "type": "recommended"
                },
                {
                    "name": "bla",
                    "type": "synonym"
                },
                {
                    "name": "frem2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5C5-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5H8B9-1",
            "uniprot_ac": "Q5H8B9",
            "uniprot_id": "FREM3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 3",
                    "type": "recommended"
                },
                {
                    "name": "NV domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem3",
                    "type": "recommended"
                },
                {
                    "name": "Gm795",
                    "type": "synonym"
                },
                {
                    "name": "Nv2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5H8B9-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925T6-1",
            "uniprot_ac": "Q925T6",
            "uniprot_id": "GRIP1_MOUSE",
            "refseq_ac": "NP_001264221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GRIP-1",
                    "type": "synonym"
                },
                {
                    "name": "eye blebs",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor-interacting protein 1 isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grip1",
                    "type": "recommended"
                },
                {
                    "name": "4931400F03Rik",
                    "type": "synonym"
                },
                {
                    "name": "GRIP",
                    "type": "synonym"
                },
                {
                    "name": "Grip1",
                    "type": "synonym"
                },
                {
                    "name": "eb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925T6-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NVD0-1",
            "uniprot_ac": "Q6NVD0",
            "uniprot_id": "FREM2_MOUSE",
            "refseq_ac": "NP_766450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NV domain containing protein NV1",
                    "type": "synonym"
                },
                {
                    "name": "NV domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem2",
                    "type": "recommended"
                },
                {
                    "name": "6030440P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "8430406N05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Frem2",
                    "type": "synonym"
                },
                {
                    "name": "Gm409",
                    "type": "synonym"
                },
                {
                    "name": "Nv1",
                    "type": "synonym"
                },
                {
                    "name": "b2b1562Clo",
                    "type": "synonym"
                },
                {
                    "name": "my",
                    "type": "synonym"
                },
                {
                    "name": "ne",
                    "type": "synonym"
                },
                {
                    "name": "nv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVD0-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "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": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q684R7-1",
            "uniprot_ac": "Q684R7",
            "uniprot_id": "FREM1_MOUSE",
            "refseq_ac": "NP_001185740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Protein QBRICK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem1",
                    "type": "recommended"
                },
                {
                    "name": "D430009N09",
                    "type": "synonym"
                },
                {
                    "name": "D630008K06",
                    "type": "synonym"
                },
                {
                    "name": "Frem1",
                    "type": "synonym"
                },
                {
                    "name": "crf11",
                    "type": "synonym"
                },
                {
                    "name": "eye<m02Jus>",
                    "type": "synonym"
                },
                {
                    "name": "eyes2",
                    "type": "synonym"
                },
                {
                    "name": "heb",
                    "type": "synonym"
                },
                {
                    "name": "qbrick",
                    "type": "synonym"
                }
            ],
            "record_id": "Q684R7-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "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": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KB00-1",
            "uniprot_ac": "A0A0G2KB00",
            "uniprot_id": "A0A0G2KB00_RAT",
            "refseq_ac": "NP_001398464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein QBRICK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem1",
                    "type": "recommended"
                },
                {
                    "name": "Frem1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306981",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KB00-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97879-1",
            "uniprot_ac": "P97879",
            "uniprot_id": "GRIP1_RAT",
            "refseq_ac": "NP_114458",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "AMPA receptor-interacting protein GRIP1",
                    "type": "synonym"
                },
                {
                    "name": "GRIP-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grip1",
                    "type": "recommended"
                },
                {
                    "name": "Grip1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97879-1",
            "evidence": [
                {
                    "id": "0090001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        },
        {
            "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"
                },
                {
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                {
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                {
                    "name": "Drosophila melanogaster",
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                {
                    "name": "Grip-PA",
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            ],
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                    "name": "CRYPTOP",
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                {
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                }
            ],
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                {
                    "name": "glutamate receptor-interacting protein 1 isoform 2",
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                }
            ],
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                    "name": "GRIP1",
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                    "name": "FRASRS3",
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                },
                {
                    "name": "GRIP1",
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                },
                {
                    "name": "GRIP",
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                }
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                    "id": "0090001",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090001"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090001"
}