{
    "disease_id": "DOID:0111187",
    "recommended_name": {
        "id": "DOID:0111187",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111187",
        "name": "distal myopathy with anterior tibial onset",
        "description": "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111187",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111187",
            "name": "DMAT",
            "description": ""
        },
        {
            "id": "DOID:0111187",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111187",
            "name": "distal muscular dystrophy with anterior tibial onset",
            "description": ""
        },
        {
            "id": "MONDO:0011721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011721",
            "name": "distal myopathy with anterior tibial onset",
            "description": ""
        },
        {
            "id": "MONDO:0011721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011721",
            "name": "distal anterior compartment myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011721",
            "name": "DMAT",
            "description": ""
        },
        {
            "id": "MONDO:0011721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011721",
            "name": "myopathy, distal, with anterior tibial onset",
            "description": ""
        },
        {
            "id": "MIM:606768",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606768",
            "name": "Distal myopathy with anterior tibial onset",
            "description": "Distal myopathy with anterior tibial onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111187"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111187",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111187",
            "categories": []
        },
        {
            "id": "MONDO:0011721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011721",
            "categories": []
        },
        {
            "id": "MIM:606768",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606768",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QH25-1",
            "uniprot_ac": "A0A8M9QH25",
            "uniprot_id": "A0A8M9QH25_DANRE",
            "refseq_ac": "XP_021333230",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysferlin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dysferlin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dysf",
                    "type": "recommended"
                },
                {
                    "name": "dysf",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-50c18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73b05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QH25-1",
            "evidence": [
                {
                    "id": "0111187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111187"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESD7-1",
            "uniprot_ac": "Q9ESD7",
            "uniprot_id": "DYSF_MOUSE",
            "refseq_ac": "NP_001071162",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "dysferlin_a",
                    "type": "synonym"
                },
                {
                    "name": "dystrophy-associated fer-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dysf",
                    "type": "recommended"
                },
                {
                    "name": "2310004N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "D6Pas3",
                    "type": "synonym"
                },
                {
                    "name": "Dysf",
                    "type": "synonym"
                },
                {
                    "name": "Fer1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESD7-1",
            "evidence": [
                {
                    "id": "0111187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111187"
                }
            ]
        },
        {
            "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": "606768",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606768"
                },
                {
                    "id": "0111187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111187"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7B6-1",
            "uniprot_ac": "A0A0G2K7B6",
            "uniprot_id": "A0A0G2K7B6_RAT",
            "refseq_ac": "XP_006236820",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "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 X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dysf",
                    "type": "recommended"
                },
                {
                    "name": "Dysf",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7B6-1",
            "evidence": [
                {
                    "id": "0111187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111187"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z0E5-1",
            "uniprot_ac": "B7Z0E5",
            "uniprot_id": "B7Z0E5_DROME",
            "refseq_ac": "NP_001137919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5747-PF",
                    "type": "synonym"
                },
                {
                    "name": "Misfire, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "mfr-PF",
                    "type": "synonym"
                },
                {
                    "name": "misfire, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfr",
                    "type": "recommended"
                },
                {
                    "name": "CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Otoferlin",
                    "type": "synonym"
                },
                {
                    "name": "mfr",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z0E5-1",
            "evidence": [
                {
                    "id": "0111187",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111187"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111187"
}