{
    "disease_id": "DOID:0111406",
    "recommended_name": {
        "id": "DOID:0111406",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111406",
        "name": "Fraser syndrome 3",
        "description": "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111406",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111406",
            "name": "FRASRS3",
            "description": ""
        },
        {
            "id": "MONDO:0054739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054739",
            "name": "Fraser syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0054739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054739",
            "name": "Fraser syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0054739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054739",
            "name": "FRASRS3",
            "description": ""
        },
        {
            "id": "MIM:617667",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617667",
            "name": "Fraser syndrome 3",
            "description": "Fraser syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111406"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111406",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111406",
            "categories": []
        },
        {
            "id": "MONDO:0054739",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054739",
            "categories": []
        },
        {
            "id": "MIM:617667",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617667",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0111406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111406"
                }
            ]
        },
        {
            "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": "0111406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3R0-1",
            "uniprot_ac": "Q9Y3R0",
            "uniprot_id": "GRIP1_HUMAN",
            "refseq_ac": "NP_001171545",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GRIP-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor-interacting protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRIP1",
                    "type": "recommended"
                },
                {
                    "name": "FRASRS3",
                    "type": "synonym"
                },
                {
                    "name": "GRIP1",
                    "type": "synonym"
                },
                {
                    "name": "GRIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3R0-1",
            "evidence": [
                {
                    "id": "617667",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617667"
                },
                {
                    "id": "0111406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111406"
                }
            ]
        },
        {
            "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": "0111406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W450-1",
            "uniprot_ac": "Q9W450",
            "uniprot_id": "Q9W450_DROME",
            "refseq_ac": "NP_572285",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14447-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate receptor interacting protein, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-receptor-interacting-protein",
                    "type": "synonym"
                },
                {
                    "name": "Grip-PA",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor interacting protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grip",
                    "type": "recommended"
                },
                {
                    "name": "CG14447",
                    "type": "synonym"
                },
                {
                    "name": "CG5980",
                    "type": "synonym"
                },
                {
                    "name": "DGrip",
                    "type": "synonym"
                },
                {
                    "name": "Dgrip",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14447",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14447",
                    "type": "synonym"
                },
                {
                    "name": "GRIP",
                    "type": "synonym"
                },
                {
                    "name": "Grip",
                    "type": "synonym"
                },
                {
                    "name": "dGRIP",
                    "type": "synonym"
                },
                {
                    "name": "dgrip",
                    "type": "synonym"
                },
                {
                    "name": "grip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W450-1",
            "evidence": [
                {
                    "id": "0111406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111406"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111406"
}