{
    "disease_id": "DOID:0110169",
    "recommended_name": {
        "id": "DOID:0110169",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110169",
        "name": "Charcot-Marie-Tooth disease axonal type 2P",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110169",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110169",
            "name": "CMT2P",
            "description": ""
        },
        {
            "id": "DOID:0110169",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110169",
            "name": "Charcot-Marie-Tooth disease type 2P",
            "description": ""
        },
        {
            "id": "DOID:0110169",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110169",
            "name": "Charcot-Marie-Tooth neuropathy type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease axonal type 2P",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene."
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "CMT2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease caused by mutation in LRSAM1",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth neuropathy, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Toothe disease, axonal, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "LRSAM1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "CMT 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "CMT2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot Marie Tooth disease type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, type 4A, axonal form",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease axonal type 2P",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene."
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "CMT2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease caused by mutation in LRSAM1",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth neuropathy, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Toothe disease, axonal, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "LRSAM1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "CMT 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "CMT2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot Marie Tooth disease type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013753",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "name": "Charcot-Marie-Tooth disease, type 4A, axonal form",
            "description": ""
        },
        {
            "id": "MIM:614436",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614436",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2P",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2P"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110169"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110169",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110169",
            "categories": []
        },
        {
            "id": "MONDO:0013753",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013753",
            "categories": []
        },
        {
            "id": "MIM:614436",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614436",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NF66-1",
            "uniprot_ac": "A0A8M1NF66",
            "uniprot_id": "A0A8M1NF66_DANRE",
            "refseq_ac": "NP_001093474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrsam1",
                    "type": "recommended"
                },
                {
                    "name": "lrsam1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-208h16.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NF66-1",
            "evidence": [
                {
                    "id": "0110169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80ZI6-1",
            "uniprot_ac": "Q80ZI6",
            "uniprot_id": "LRSM1_MOUSE",
            "refseq_ac": "NP_955006",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat and sterile alpha motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "Tsg101-associated ligase",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat and sterile alpha motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tsg101-associated ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrsam1",
                    "type": "recommended"
                },
                {
                    "name": "Lrsam1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80ZI6-1",
            "evidence": [
                {
                    "id": "0110169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UWE0-1",
            "uniprot_ac": "Q6UWE0",
            "uniprot_id": "LRSM1_HUMAN",
            "refseq_ac": "NP_001005373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat and sterile alpha motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger leucine repeat rich",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "Tsg101-associated ligase",
                    "type": "synonym"
                },
                {
                    "name": "hTAL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRSAM1",
                    "type": "recommended"
                },
                {
                    "name": "CMT2P",
                    "type": "synonym"
                },
                {
                    "name": "LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "PRO21356",
                    "type": "synonym"
                },
                {
                    "name": "RIFLE",
                    "type": "synonym"
                },
                {
                    "name": "TAL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UWE0-1",
            "evidence": [
                {
                    "id": "614436",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614436"
                },
                {
                    "id": "0110169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AEY5-1",
            "uniprot_ac": "A0A8I6AEY5",
            "uniprot_id": "A0A8I6AEY5_RAT",
            "refseq_ac": "NP_001101303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat and sterile alpha motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase LRSAM1",
                    "type": "synonym"
                },
                {
                    "name": "Tsg101-associated ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrsam1",
                    "type": "recommended"
                },
                {
                    "name": "Lrsam1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564403",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AEY5-1",
            "evidence": [
                {
                    "id": "0110169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110169"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110169"
}