{
    "disease_id": "DOID:0081297",
    "recommended_name": {
        "id": "DOID:0081297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081297",
        "name": "oculopharyngodistal myopathy 1",
        "description": "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22."
    },
    "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_list": [
        "DOID:0081297"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081297",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081297",
            "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": "Q8BUJ9-1",
            "uniprot_ac": "Q8BUJ9",
            "uniprot_id": "LRP12_MOUSE",
            "refseq_ac": "NP_001333965",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 12",
                    "type": "recommended"
                },
                {
                    "name": "LRP-12",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp12",
                    "type": "recommended"
                },
                {
                    "name": "C820005L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "LRP-12",
                    "type": "synonym"
                },
                {
                    "name": "Lrp12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BUJ9-1",
            "evidence": [
                {
                    "id": "0081297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081297"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0081297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCF7-1",
            "uniprot_ac": "D3ZCF7",
            "uniprot_id": "D3ZCF7_RAT",
            "refseq_ac": "NP_001128355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 12",
                    "type": "recommended"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp12",
                    "type": "recommended"
                },
                {
                    "name": "Lrp12",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCF7-1",
            "evidence": [
                {
                    "id": "0081297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081297"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081297"
}