{
    "disease_id": "DOID:0111191",
    "recommended_name": {
        "id": "DOID:0111191",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111191",
        "name": "distal myopathy Tateyama type",
        "description": "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0111191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111191",
            "name": "distal muscular dystrophy Tateyama type",
            "description": ""
        },
        {
            "id": "MONDO:0013686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "name": "distal myopathy, Tateyama type",
            "description": "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability."
        },
        {
            "id": "MONDO:0013686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "name": "MPDT",
            "description": ""
        },
        {
            "id": "MONDO:0013686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "name": "myopathy, distal, Tateyama type",
            "description": ""
        },
        {
            "id": "MIM:614321",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614321",
            "name": "Myopathy, distal, Tateyama type",
            "description": "Myopathy, distal, Tateyama type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111191"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111191",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111191",
            "categories": []
        },
        {
            "id": "MONDO:0013686",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "categories": []
        },
        {
            "id": "MIM:614321",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614321",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51637-1",
            "uniprot_ac": "P51637",
            "uniprot_id": "CAV3_MOUSE",
            "refseq_ac": "NP_031643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-3",
                    "type": "recommended"
                },
                {
                    "name": "M-caveolin",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav3",
                    "type": "recommended"
                },
                {
                    "name": "Cav-3",
                    "type": "synonym"
                },
                {
                    "name": "Cav3",
                    "type": "synonym"
                },
                {
                    "name": "M-cav",
                    "type": "synonym"
                }
            ],
            "record_id": "P51637-1",
            "evidence": [
                {
                    "id": "0111191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56539-1",
            "uniprot_ac": "P56539",
            "uniprot_id": "CAV3_HUMAN",
            "refseq_ac": "NP_001225",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-3",
                    "type": "recommended"
                },
                {
                    "name": "M-caveolin",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-3",
                    "type": "synonym"
                },
                {
                    "name": "cavolin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAV3",
                    "type": "recommended"
                },
                {
                    "name": "CAV3",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1C",
                    "type": "synonym"
                },
                {
                    "name": "LQT9",
                    "type": "synonym"
                },
                {
                    "name": "MPDT",
                    "type": "synonym"
                },
                {
                    "name": "RMD2",
                    "type": "synonym"
                },
                {
                    "name": "VIP-21",
                    "type": "synonym"
                },
                {
                    "name": "VIP21",
                    "type": "synonym"
                }
            ],
            "record_id": "P56539-1",
            "evidence": [
                {
                    "id": "614321",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614321"
                },
                {
                    "id": "0111191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51638-1",
            "uniprot_ac": "P51638",
            "uniprot_id": "CAV3_RAT",
            "refseq_ac": "NP_062028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-3",
                    "type": "recommended"
                },
                {
                    "name": "caveolin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav3",
                    "type": "recommended"
                },
                {
                    "name": "Cav3",
                    "type": "synonym"
                }
            ],
            "record_id": "P51638-1",
            "evidence": [
                {
                    "id": "0111191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111191"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111191"
}