{
    "disease_id": "DOID:0060209",
    "recommended_name": {
        "id": "DOID:0060209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060209",
        "name": "amyotrophic lateral sclerosis type 18",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17."
    },
    "synonyms": [
        {
            "id": "DOID:0060209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060209",
            "name": "ALS18",
            "description": ""
        },
        {
            "id": "DOID:0060209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060209",
            "name": "amyotrophic lateral sclerosis 18",
            "description": ""
        },
        {
            "id": "MONDO:0013891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "name": "amyotrophic lateral sclerosis type 18",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene."
        },
        {
            "id": "MONDO:0013891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "name": "ALS18",
            "description": ""
        },
        {
            "id": "MONDO:0013891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "name": "PFN1 amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "name": "amyotrophic lateral sclerosis 18",
            "description": ""
        },
        {
            "id": "MONDO:0013891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "name": "amyotrophic lateral sclerosis caused by mutation in PFN1",
            "description": ""
        },
        {
            "id": "MONDO:0013891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "name": "amyotrophic lateral sclerosis type 18",
            "description": ""
        },
        {
            "id": "MIM:614808",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614808",
            "name": "Amyotrophic lateral sclerosis 18",
            "description": "Amyotrophic lateral sclerosis 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060209",
            "categories": []
        },
        {
            "id": "MONDO:0013891",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013891",
            "categories": []
        },
        {
            "id": "MIM:614808",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614808",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F0A1-1",
            "uniprot_ac": "E7F0A1",
            "uniprot_id": "E7F0A1_DANRE",
            "refseq_ac": "NP_001292517",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Profilin",
                    "type": "recommended"
                },
                {
                    "name": "profilin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pfn1",
                    "type": "recommended"
                },
                {
                    "name": "fa91a03",
                    "type": "synonym"
                },
                {
                    "name": "pfn1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb813",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa91a03",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0A1-1",
            "evidence": [
                {
                    "id": "0060209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62962-1",
            "uniprot_ac": "P62962",
            "uniprot_id": "PROF1_MOUSE",
            "refseq_ac": "NP_035202",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Profilin-1",
                    "type": "recommended"
                },
                {
                    "name": "Profilin I",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "profilin I",
                    "type": "synonym"
                },
                {
                    "name": "profilin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pfn1",
                    "type": "recommended"
                },
                {
                    "name": "Pfn1",
                    "type": "synonym"
                },
                {
                    "name": "Pfn",
                    "type": "synonym"
                }
            ],
            "record_id": "P62962-1",
            "evidence": [
                {
                    "id": "0060209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07737-1",
            "uniprot_ac": "P07737",
            "uniprot_id": "PROF1_HUMAN",
            "refseq_ac": "NP_005013",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Profilin-1",
                    "type": "recommended"
                },
                {
                    "name": "Epididymis tissue protein Li 184a",
                    "type": "synonym"
                },
                {
                    "name": "Profilin I",
                    "type": "synonym"
                },
                {
                    "name": "epididymis tissue protein Li 184a",
                    "type": "synonym"
                },
                {
                    "name": "profilin I",
                    "type": "synonym"
                },
                {
                    "name": "profilin-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PFN1",
                    "type": "recommended"
                },
                {
                    "name": "ALS18",
                    "type": "synonym"
                },
                {
                    "name": "PFN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P07737-1",
            "evidence": [
                {
                    "id": "614808",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614808"
                },
                {
                    "id": "0060209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07274-1",
            "uniprot_ac": "P07274",
            "uniprot_id": "PROF_YEAST",
            "refseq_ac": "NP_014765",
            "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": "Profilin",
                    "type": "recommended"
                },
                {
                    "name": "Calcium sensitive protein 5",
                    "type": "synonym"
                },
                {
                    "name": "profilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PFY1",
                    "type": "recommended"
                },
                {
                    "name": "CLS5",
                    "type": "synonym"
                },
                {
                    "name": "O3275",
                    "type": "synonym"
                },
                {
                    "name": "PFY1",
                    "type": "synonym"
                },
                {
                    "name": "PFY",
                    "type": "synonym"
                },
                {
                    "name": "PRF1",
                    "type": "synonym"
                },
                {
                    "name": "YOR3275C",
                    "type": "synonym"
                }
            ],
            "record_id": "P07274-1",
            "evidence": [
                {
                    "id": "0060209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62963-1",
            "uniprot_ac": "P62963",
            "uniprot_id": "PROF1_RAT",
            "refseq_ac": "NP_071956",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Profilin-1",
                    "type": "recommended"
                },
                {
                    "name": "Profilin I",
                    "type": "synonym"
                },
                {
                    "name": "profilin I",
                    "type": "synonym"
                },
                {
                    "name": "profilin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pfn1",
                    "type": "recommended"
                },
                {
                    "name": "Pfn1",
                    "type": "synonym"
                }
            ],
            "record_id": "P62963-1",
            "evidence": [
                {
                    "id": "0060209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060209"
}