{
    "disease_id": "DOID:0081296",
    "recommended_name": {
        "id": "DOID:0081296",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081296",
        "name": "oculopharyngodistal myopathy",
        "description": "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities."
    },
    "synonyms": [
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "oculopharyngodistal myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "oculopharyngodistal myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "OPDM1",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "oculopharyngodistal myopathy 1",
            "description": ""
        },
        {
            "id": "MIM:164310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164310",
            "name": "Oculopharyngodistal myopathy 1",
            "description": "Oculopharyngodistal myopathy 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081297",
            "label": "oculopharyngodistal myopathy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081298",
            "label": "oculopharyngodistal myopathy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081299",
            "label": "oculopharyngodistal myopathy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081300",
            "label": "oculopharyngodistal myopathy 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081299",
        "DOID:0081298",
        "DOID:0081297",
        "DOID:0081296",
        "DOID:0081300"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081296",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081296",
            "categories": []
        },
        {
            "id": "MONDO:0020793",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "categories": []
        },
        {
            "id": "MIM:164310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/164310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y561-1",
            "uniprot_ac": "Q9Y561",
            "uniprot_id": "LRP12_HUMAN",
            "refseq_ac": "NP_001129175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 12",
                    "type": "recommended"
                },
                {
                    "name": "LDLR-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "LRP-12",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of tumorigenicity 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of tumorigenicity 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP12",
                    "type": "recommended"
                },
                {
                    "name": "ALS28",
                    "type": "synonym"
                },
                {
                    "name": "LRP12",
                    "type": "synonym"
                },
                {
                    "name": "MIG13A",
                    "type": "synonym"
                },
                {
                    "name": "ST7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y561-1",
            "evidence": [
                {
                    "id": "164310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/164310"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081296"
}