{
    "disease_id": "DOID:0060194",
    "recommended_name": {
        "id": "DOID:0060194",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060194",
        "name": "amyotrophic lateral sclerosis type 2",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2."
    },
    "synonyms": [
        {
            "id": "DOID:0060194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060194",
            "name": "ALS2",
            "description": ""
        },
        {
            "id": "DOID:0060194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060194",
            "name": "amyotrophic lateral sclerosis 2",
            "description": ""
        },
        {
            "id": "DOID:0060194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060194",
            "name": "amyotrophic lateral sclerosis 2, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0008780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008780",
            "name": "amyotrophic lateral sclerosis type 2, juvenile",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene."
        },
        {
            "id": "MONDO:0008780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008780",
            "name": "ALS2",
            "description": ""
        },
        {
            "id": "MONDO:0008780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008780",
            "name": "ALS2 amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0008780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008780",
            "name": "amyotrophic lateral sclerosis 2, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0008780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008780",
            "name": "amyotrophic lateral sclerosis caused by mutation in ALS2",
            "description": ""
        },
        {
            "id": "MIM:205100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/205100",
            "name": "Amyotrophic lateral sclerosis 2",
            "description": "Amyotrophic lateral sclerosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060194"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060194",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060194",
            "categories": []
        },
        {
            "id": "MONDO:0008780",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008780",
            "categories": []
        },
        {
            "id": "MIM:205100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/205100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TEA8-1",
            "uniprot_ac": "A0A8N7TEA8",
            "uniprot_id": "A0A8N7TEA8_DANRE",
            "refseq_ac": "XP_021334529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alsin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "alsin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "als2a",
                    "type": "recommended"
                },
                {
                    "name": "als2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TEA8-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B372-1",
            "uniprot_ac": "A0A8M3B372",
            "uniprot_id": "A0A8M3B372_DANRE",
            "refseq_ac": "XP_009300450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alsin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "alsin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "als2b",
                    "type": "recommended"
                },
                {
                    "name": "als2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B372-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q920R0-1",
            "uniprot_ac": "Q920R0",
            "uniprot_id": "ALS2_MOUSE",
            "refseq_ac": "NP_001153420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alsin",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "alsin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Als2",
                    "type": "recommended"
                },
                {
                    "name": "3222402C23Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430073A21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Als2cr6",
                    "type": "synonym"
                },
                {
                    "name": "Als2",
                    "type": "synonym"
                },
                {
                    "name": "Alsin",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1563",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920R0-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60I26-1",
            "uniprot_ac": "Q60I26",
            "uniprot_id": "AL2CL_MOUSE",
            "refseq_ac": "NP_001139531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALS2 C-terminal-like protein",
                    "type": "recommended"
                },
                {
                    "name": "ALS2 C-terminal-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00189 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Als2cl",
                    "type": "recommended"
                },
                {
                    "name": "79H19D",
                    "type": "synonym"
                },
                {
                    "name": "79H19E",
                    "type": "synonym"
                },
                {
                    "name": "Als2cl",
                    "type": "synonym"
                },
                {
                    "name": "D930044G19Rik",
                    "type": "synonym"
                },
                {
                    "name": "mRn.49018",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60I26-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96Q42-1",
            "uniprot_ac": "Q96Q42",
            "uniprot_id": "ALS2_HUMAN",
            "refseq_ac": "NP_001129217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alsin",
                    "type": "recommended"
                },
                {
                    "name": "ALS2, alsin Rho guanine nucleotide exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "alsin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "alsin",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile)",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALS2",
                    "type": "recommended"
                },
                {
                    "name": "ALS2CR6",
                    "type": "synonym"
                },
                {
                    "name": "ALS2",
                    "type": "synonym"
                },
                {
                    "name": "ALSJ",
                    "type": "synonym"
                },
                {
                    "name": "IAHSP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1563",
                    "type": "synonym"
                },
                {
                    "name": "PLSJ",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96Q42-1",
            "evidence": [
                {
                    "id": "205100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/205100"
                },
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C5Y8-1",
            "uniprot_ac": "P0C5Y8",
            "uniprot_id": "ALS2_RAT",
            "refseq_ac": "NP_001013431",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alsin",
                    "type": "recommended"
                },
                {
                    "name": "ALS2, alsin Rho guanine nucleotide exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "alsin",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile)",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Als2",
                    "type": "recommended"
                },
                {
                    "name": "Als2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C5Y8-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG75-1",
            "uniprot_ac": "D3ZG75",
            "uniprot_id": "D3ZG75_RAT",
            "refseq_ac": "XP_038938579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALS2 C-terminal-like protein",
                    "type": "recommended"
                },
                {
                    "name": "ALS2 C-terminal-like protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Als2cl",
                    "type": "recommended"
                },
                {
                    "name": "Als2cl",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZG75-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNZ8-1",
            "uniprot_ac": "Q9VNZ8",
            "uniprot_id": "ALS2_DROME",
            "refseq_ac": "NP_649347",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alsin homolog",
                    "type": "recommended"
                },
                {
                    "name": "Als2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG7158-PA",
                    "type": "synonym"
                },
                {
                    "name": "alsin",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Als2",
                    "type": "recommended"
                },
                {
                    "name": "ALS2",
                    "type": "synonym"
                },
                {
                    "name": "Als2",
                    "type": "synonym"
                },
                {
                    "name": "CG7158",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7158",
                    "type": "synonym"
                },
                {
                    "name": "dALS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNZ8-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60I27-1",
            "uniprot_ac": "Q60I27",
            "uniprot_id": "AL2CL_HUMAN",
            "refseq_ac": "NP_001177636",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALS2 C-terminal-like protein",
                    "type": "recommended"
                },
                {
                    "name": "ALS2 C-terminal-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ALS2 C-terminal-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALS2CL",
                    "type": "recommended"
                },
                {
                    "name": "ALS2CL",
                    "type": "synonym"
                },
                {
                    "name": "RN49018",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60I27-1",
            "evidence": [
                {
                    "id": "0060194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060194"
}