{
    "disease_id": "DOID:0060202",
    "recommended_name": {
        "id": "DOID:0060202",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060202",
        "name": "amyotrophic lateral sclerosis type 11",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6."
    },
    "synonyms": [
        {
            "id": "DOID:0060202",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060202",
            "name": "ALS11",
            "description": ""
        },
        {
            "id": "DOID:0060202",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060202",
            "name": "amyotrophic lateral sclerosis 11",
            "description": ""
        },
        {
            "id": "MONDO:0012945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "name": "amyotrophic lateral sclerosis type 11",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene."
        },
        {
            "id": "MONDO:0012945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "name": "ALS11",
            "description": ""
        },
        {
            "id": "MONDO:0012945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "name": "FIG4 amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0012945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "name": "amyotrophic lateral sclerosis 11",
            "description": ""
        },
        {
            "id": "MONDO:0012945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "name": "amyotrophic lateral sclerosis caused by mutation in FIG4",
            "description": ""
        },
        {
            "id": "MONDO:0012945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "name": "amyotrophic lateral sclerosis type 11",
            "description": ""
        },
        {
            "id": "MIM:612577",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612577",
            "name": "Amyotrophic lateral sclerosis 11",
            "description": "Amyotrophic lateral sclerosis 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060202"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060202",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060202",
            "categories": []
        },
        {
            "id": "MONDO:0012945",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012945",
            "categories": []
        },
        {
            "id": "MIM:612577",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612577",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91WF7-1",
            "uniprot_ac": "Q91WF7",
            "uniprot_id": "FIG4_MOUSE",
            "refseq_ac": "NP_598760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphoinositide phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "SAC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sac domain-containing inositol phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein phosphatase FIG4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polyphosphoinositide phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "serine-protein phosphatase FIG4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fig4",
                    "type": "recommended"
                },
                {
                    "name": "A530089I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fig4",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0274",
                    "type": "synonym"
                },
                {
                    "name": "Sac3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WF7-1",
            "evidence": [
                {
                    "id": "0060202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92562-1",
            "uniprot_ac": "Q92562",
            "uniprot_id": "FIG4_HUMAN",
            "refseq_ac": "NP_055660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphoinositide phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog, SAC domain containing lipid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog, SAC1 domain containing lipid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog, SAC1 lipid phosphatase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "SAC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sac domain-containing inositol phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein phosphatase FIG4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polyphosphoinositide phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "serine-protein phosphatase FIG4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIG4",
                    "type": "recommended"
                },
                {
                    "name": "ALS11",
                    "type": "synonym"
                },
                {
                    "name": "BOP",
                    "type": "synonym"
                },
                {
                    "name": "BTOP",
                    "type": "synonym"
                },
                {
                    "name": "CMT4J",
                    "type": "synonym"
                },
                {
                    "name": "FIG4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0274",
                    "type": "synonym"
                },
                {
                    "name": "SAC3",
                    "type": "synonym"
                },
                {
                    "name": "YVS",
                    "type": "synonym"
                },
                {
                    "name": "dJ249I4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92562-1",
            "evidence": [
                {
                    "id": "612577",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612577"
                },
                {
                    "id": "0060202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42837-1",
            "uniprot_ac": "P42837",
            "uniprot_id": "FIG4_YEAST",
            "refseq_ac": "NP_014074",
            "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": "Polyphosphoinositide phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "Factor-induced gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIG4",
                    "type": "recommended"
                },
                {
                    "name": "FIG4",
                    "type": "synonym"
                },
                {
                    "name": "N0330",
                    "type": "synonym"
                }
            ],
            "record_id": "P42837-1",
            "evidence": [
                {
                    "id": "0060202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR06-1",
            "uniprot_ac": "Q9VR06",
            "uniprot_id": "Q9VR06_DROME",
            "refseq_ac": "NP_608841",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "CG17840-PA",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 phosphoinositide 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "FIG4-PA",
                    "type": "synonym"
                },
                {
                    "name": "factor-induced-gene 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIG4",
                    "type": "recommended"
                },
                {
                    "name": "CG17840",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17840",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17840",
                    "type": "synonym"
                },
                {
                    "name": "FIG4",
                    "type": "synonym"
                },
                {
                    "name": "Fig4",
                    "type": "synonym"
                },
                {
                    "name": "dFIG 4",
                    "type": "synonym"
                },
                {
                    "name": "dFIG4",
                    "type": "synonym"
                },
                {
                    "name": "dFig4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR06-1",
            "evidence": [
                {
                    "id": "0060202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060202"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060202"
}