{
    "disease_id": "DOID:0050637",
    "recommended_name": {
        "id": "DOID:0050637",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050637",
        "name": "Finnish type amyloidosis",
        "description": "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa."
    },
    "synonyms": [
        {
            "id": "DOID:0050637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050637",
            "name": "AMYLOIDOSIS, MERETOJA TYPE",
            "description": ""
        },
        {
            "id": "DOID:0050637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050637",
            "name": "AGel amyloidosis",
            "description": ""
        },
        {
            "id": "DOID:0050637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050637",
            "name": "Lattice corneal dystrophy type II",
            "description": ""
        },
        {
            "id": "DOID:0050637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050637",
            "name": "gelsolin amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "Finnish type amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "amyloidosis, MERETOJA type",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "familial amyloid polyneuropathy type IV",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "familial amyloidosis, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "gelsolin amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "hereditary amyloidosis, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "meretoja syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "amyloidosis V",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "hereditary gelsolin amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007097",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "name": "lattice corneal dystrophy type II Finnish",
            "description": ""
        },
        {
            "id": "MIM:105120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105120",
            "name": "Amyloidosis, hereditary systemic 4, Finnish type",
            "description": "Amyloidosis, hereditary systemic 4, Finnish type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050637"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050637",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050637",
            "categories": []
        },
        {
            "id": "MONDO:0007097",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007097",
            "categories": []
        },
        {
            "id": "MIM:105120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P366-1",
            "uniprot_ac": "A0A8M9P366",
            "uniprot_id": "A0A8M9P366_DANRE",
            "refseq_ac": "XP_021324427",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gelsolin",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "gelsolin a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gsna",
                    "type": "recommended"
                },
                {
                    "name": "cb107",
                    "type": "synonym"
                },
                {
                    "name": "gsna",
                    "type": "synonym"
                },
                {
                    "name": "gsn",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb107",
                    "type": "synonym"
                },
                {
                    "name": "u-gelsolin",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi16f06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P366-1",
            "evidence": [
                {
                    "id": "0050637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13020-1",
            "uniprot_ac": "P13020",
            "uniprot_id": "GELS_MOUSE",
            "refseq_ac": "NP_666232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gelsolin",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "Brevin",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "brevin",
                    "type": "synonym"
                },
                {
                    "name": "gelsolin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gsn",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Gsb",
                    "type": "synonym"
                },
                {
                    "name": "Gsn",
                    "type": "synonym"
                }
            ],
            "record_id": "P13020-1",
            "evidence": [
                {
                    "id": "0050637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06396-1",
            "uniprot_ac": "P06396",
            "uniprot_id": "GELS_HUMAN",
            "refseq_ac": "NP_000168",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gelsolin",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "AGEL",
                    "type": "synonym"
                },
                {
                    "name": "Actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "Brevin",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "brevin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "gelsolin isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GSN",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "AGEL",
                    "type": "synonym"
                },
                {
                    "name": "AMYLD4",
                    "type": "synonym"
                },
                {
                    "name": "GSN",
                    "type": "synonym"
                }
            ],
            "record_id": "P06396-1",
            "evidence": [
                {
                    "id": "105120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105120"
                },
                {
                    "id": "0050637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FP1-1",
            "uniprot_ac": "Q68FP1",
            "uniprot_id": "GELS_RAT",
            "refseq_ac": "NP_001004080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gelsolin",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "Brevin",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "brevin",
                    "type": "synonym"
                },
                {
                    "name": "gelsolin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gsn",
                    "type": "recommended"
                },
                {
                    "name": "Gsn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FP1-1",
            "evidence": [
                {
                    "id": "0050637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07171-1",
            "uniprot_ac": "Q07171",
            "uniprot_id": "GELS_DROME",
            "refseq_ac": "NP_001036657",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gelsolin",
                    "type": "recommended"
                },
                {
                    "name": "CG1106-PL",
                    "type": "synonym"
                },
                {
                    "name": "Gel-PL",
                    "type": "synonym"
                },
                {
                    "name": "drosophila gelsolin",
                    "type": "synonym"
                },
                {
                    "name": "gelsolin, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "gelsolin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gel",
                    "type": "recommended"
                },
                {
                    "name": "CG1106",
                    "type": "synonym"
                },
                {
                    "name": "DGS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1106",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1106",
                    "type": "synonym"
                },
                {
                    "name": "Gel",
                    "type": "synonym"
                },
                {
                    "name": "gel",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07171-1",
            "evidence": [
                {
                    "id": "0050637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q23989-1",
            "uniprot_ac": "Q23989",
            "uniprot_id": "QUAI_DROME",
            "refseq_ac": "NP_724060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Villin-like protein quail",
                    "type": "recommended"
                },
                {
                    "name": "CG6433-PA",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)A12",
                    "type": "synonym"
                },
                {
                    "name": "qua-PA",
                    "type": "synonym"
                },
                {
                    "name": "quail, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "quail",
                    "type": "synonym"
                },
                {
                    "name": "villin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "qua",
                    "type": "recommended"
                },
                {
                    "name": "CG6433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6433",
                    "type": "synonym"
                },
                {
                    "name": "Qua",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.71",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)A12",
                    "type": "synonym"
                },
                {
                    "name": "qua",
                    "type": "synonym"
                }
            ],
            "record_id": "Q23989-1",
            "evidence": [
                {
                    "id": "0050637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050637"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050637"
}