{
    "disease_id": "DOID:0060213",
    "recommended_name": {
        "id": "DOID:0060213",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060213",
        "name": "C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."
    },
    "synonyms": [
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
            "description": ""
        },
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "ALSFTD",
            "description": ""
        },
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "FTDMND",
            "description": ""
        },
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "amyotrophic lateral sclerosis and/or frontotemporal dementia",
            "description": ""
        },
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "frontotemporal dementia and/or motor neuron disease",
            "description": ""
        },
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "FTDALS1",
            "description": ""
        },
        {
            "id": "DOID:0060213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "name": "C9orf72-FTD/ALS",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
            "description": "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene."
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "ALSFTD",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "C9ORF72 frontotemporal dementia with motor neuron disease",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "C9orf72 frontotemporal dementia with motor neuron disease",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "FTDMND",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "amyotrophic lateral sclerosis and/or frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "frontotemporal dementia and/or motor neuron disease",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72",
            "description": ""
        },
        {
            "id": "MONDO:0007105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "name": "FTDALS1",
            "description": ""
        },
        {
            "id": "MIM:105550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105550",
            "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
            "description": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060213"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060213",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060213",
            "categories": []
        },
        {
            "id": "MONDO:0007105",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007105",
            "categories": []
        },
        {
            "id": "MIM:105550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DFW0-1",
            "uniprot_ac": "Q6DFW0",
            "uniprot_id": "CI072_MOUSE",
            "refseq_ac": "NP_001074812",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide exchange factor C9orf72 homolog",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide exchange C9orf72 homolog",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor C9orf72 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor C9orf72 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein C9orf72 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C9orf72",
                    "type": "recommended"
                },
                {
                    "name": "3110043O21Rik",
                    "type": "synonym"
                },
                {
                    "name": "C9orf72",
                    "type": "synonym"
                },
                {
                    "name": "Dennd9",
                    "type": "synonym"
                },
                {
                    "name": "Dennl72",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DFW0-1",
            "evidence": [
                {
                    "id": "0060213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NUM4-1",
            "uniprot_ac": "Q9NUM4",
            "uniprot_id": "T106B_HUMAN",
            "refseq_ac": "NP_001127704",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 106B",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 106B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM106B",
                    "type": "recommended"
                },
                {
                    "name": "HLD16",
                    "type": "synonym"
                },
                {
                    "name": "TMEM106B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUM4-1",
            "evidence": [
                {
                    "id": "105550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96LT7-1",
            "uniprot_ac": "Q96LT7",
            "uniprot_id": "CI072_HUMAN",
            "refseq_ac": "NP_001242983",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide exchange factor C9orf72",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide exchange C9orf72",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor C9orf72 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor C9orf72",
                    "type": "synonym"
                },
                {
                    "name": "protein C9orf72",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C9orf72",
                    "type": "recommended"
                },
                {
                    "name": "ALSFTD",
                    "type": "synonym"
                },
                {
                    "name": "C9orf72",
                    "type": "synonym"
                },
                {
                    "name": "DENND9",
                    "type": "synonym"
                },
                {
                    "name": "DENNL72",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS1",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96LT7-1",
            "evidence": [
                {
                    "id": "105550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105550"
                },
                {
                    "id": "0060213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HC3-1",
            "uniprot_ac": "Q66HC3",
            "uniprot_id": "CI072_RAT",
            "refseq_ac": "NP_001007703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide exchange factor C9orf72 homolog",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide exchange C9orf72 homolog",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide exchange factor C9orf72 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein C9orf72 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C9orf72 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C9orf72",
                    "type": "recommended"
                },
                {
                    "name": "RGD1359108",
                    "type": "recommended"
                },
                {
                    "name": "C9orf72",
                    "type": "synonym"
                },
                {
                    "name": "Dennd9",
                    "type": "synonym"
                },
                {
                    "name": "Dennl72",
                    "type": "synonym"
                },
                {
                    "name": "RGD1359108",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HC3-1",
            "evidence": [
                {
                    "id": "0060213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060213"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060213"
}