{
    "disease_id": "DOID:0070198",
    "recommended_name": {
        "id": "DOID:0070198",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070198",
        "name": "Miyoshi muscular dystrophy",
        "description": "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood."
    },
    "synonyms": [
        {
            "id": "DOID:0070198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070198",
            "name": "Miyoshi myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0024545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024545",
            "name": "Miyoshi muscular dystrophy 1",
            "description": "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene."
        },
        {
            "id": "MONDO:0024545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024545",
            "name": "DYSF Miyoshi myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0024545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024545",
            "name": "Miyoshi myopathy caused by mutation in DYSF",
            "description": ""
        },
        {
            "id": "MONDO:0024545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024545",
            "name": "MMD1",
            "description": ""
        },
        {
            "id": "MIM:254130",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254130",
            "name": "Miyoshi muscular dystrophy 1",
            "description": "Miyoshi muscular dystrophy 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070199",
            "label": "Miyoshi muscular dystrophy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070201",
            "label": "Miyoshi muscular dystrophy 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070199",
        "DOID:0070198",
        "DOID:0070201"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070198",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070198",
            "categories": []
        },
        {
            "id": "MONDO:0024545",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024545",
            "categories": []
        },
        {
            "id": "MIM:254130",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254130",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O75923-1",
            "uniprot_ac": "O75923",
            "uniprot_id": "DYSF_HUMAN",
            "refseq_ac": "NP_001123927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysferlin",
                    "type": "recommended"
                },
                {
                    "name": "Dystrophy-associated fer-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Fer-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dysferlin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dystrophy-associated fer-1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like family member 1",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "limb girdle muscular dystrophy 2B (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYSF",
                    "type": "recommended"
                },
                {
                    "name": "DYSF",
                    "type": "synonym"
                },
                {
                    "name": "FER1L1",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2B",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR2",
                    "type": "synonym"
                },
                {
                    "name": "MMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "O75923-1",
            "evidence": [
                {
                    "id": "254130",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/254130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070198"
}