{
    "disease_id": "DOID:0081299",
    "recommended_name": {
        "id": "DOID:0081299",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081299",
        "name": "oculopharyngodistal myopathy 3",
        "description": "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0023671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023671",
            "name": "oculopharyngodistal myopathy 3",
            "description": ""
        },
        {
            "id": "MONDO:0023671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023671",
            "name": "OPDM3",
            "description": ""
        },
        {
            "id": "MIM:619473",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619473",
            "name": "Oculopharyngodistal myopathy 3",
            "description": "Oculopharyngodistal myopathy 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081299"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081299",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081299",
            "categories": []
        },
        {
            "id": "MONDO:0023671",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023671",
            "categories": []
        },
        {
            "id": "MIM:619473",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619473",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0DPK4-1",
            "uniprot_ac": "P0DPK4",
            "uniprot_id": "NT2NC_HUMAN",
            "refseq_ac": "NP_001350941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Notch homolog 2 N-terminal-like protein C",
                    "type": "recommended"
                },
                {
                    "name": "notch homolog 2 N-terminal-like protein C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "notch homolog 2 N-terminal-like protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOTCH2NLC",
                    "type": "recommended"
                },
                {
                    "name": "ETM6",
                    "type": "synonym"
                },
                {
                    "name": "NIID",
                    "type": "synonym"
                },
                {
                    "name": "NOTCH2NLC",
                    "type": "synonym"
                },
                {
                    "name": "OPDM3",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DPK4-1",
            "evidence": [
                {
                    "id": "619473",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619473"
                },
                {
                    "id": "0081299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081299"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081299"
}