{
    "disease_id": "DOID:0081300",
    "recommended_name": {
        "id": "DOID:0081300",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081300",
        "name": "oculopharyngodistal myopathy 4",
        "description": "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0030712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030712",
            "name": "oculopharyngodistal myopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0030712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030712",
            "name": "OPDM4",
            "description": ""
        },
        {
            "id": "MONDO:0030712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030712",
            "name": "oculopharyngodistal myopathy 4",
            "description": ""
        },
        {
            "id": "MIM:619790",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619790",
            "name": "Oculopharyngodistal myopathy 4",
            "description": "Oculopharyngodistal myopathy 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081300"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081300",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081300",
            "categories": []
        },
        {
            "id": "MONDO:0030712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030712",
            "categories": []
        },
        {
            "id": "MIM:619790",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619790",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0PJT0-1",
            "uniprot_ac": "A0PJT0",
            "uniprot_id": "RIPL1_DANRE",
            "refseq_ac": "NP_001073132",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RILP-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RILP-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rilpl1",
                    "type": "recommended"
                },
                {
                    "name": "rilpl1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj63e01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158490",
                    "type": "synonym"
                }
            ],
            "record_id": "A0PJT0-1",
            "evidence": [
                {
                    "id": "0081300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJC6-1",
            "uniprot_ac": "Q9JJC6",
            "uniprot_id": "RIPL1_MOUSE",
            "refseq_ac": "NP_067405",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RILP-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RILP-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RILP-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rilpl1",
                    "type": "recommended"
                },
                {
                    "name": "2900002H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330559I19Rik",
                    "type": "synonym"
                },
                {
                    "name": "GOSPEL",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-2440",
                    "type": "synonym"
                },
                {
                    "name": "Rilpl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJC6-1",
            "evidence": [
                {
                    "id": "0081300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EBL4-1",
            "uniprot_ac": "Q5EBL4",
            "uniprot_id": "RIPL1_HUMAN",
            "refseq_ac": "NP_001306173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RILP-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GAPDH competitor of SIAH protein enhances life",
                    "type": "synonym"
                },
                {
                    "name": "RILP-like protein 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "RILP-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RILPL1",
                    "type": "recommended"
                },
                {
                    "name": "GOSPEL",
                    "type": "synonym"
                },
                {
                    "name": "OPDM4",
                    "type": "synonym"
                },
                {
                    "name": "RILPL1",
                    "type": "synonym"
                },
                {
                    "name": "RLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EBL4-1",
            "evidence": [
                {
                    "id": "619790",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619790"
                },
                {
                    "id": "0081300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUQ0-1",
            "uniprot_ac": "D3ZUQ0",
            "uniprot_id": "RIPL1_RAT",
            "refseq_ac": "NP_001178594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RILP-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GAPDH's competitor of SIAH1 protein enhances life",
                    "type": "synonym"
                },
                {
                    "name": "GOSPEL",
                    "type": "synonym"
                },
                {
                    "name": "RILP-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "rab-interacting lysosomal-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rilpl1",
                    "type": "recommended"
                },
                {
                    "name": "GOSPEL",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307973",
                    "type": "synonym"
                },
                {
                    "name": "Rilpl1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZUQ0-1",
            "evidence": [
                {
                    "id": "0081300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76878-1",
            "uniprot_ac": "O76878",
            "uniprot_id": "RIPL_DROME",
            "refseq_ac": "NP_569910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RILP-like protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG11448-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rab interacting lysosomal protein like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Rab-interacting lysosomal protein-like",
                    "type": "synonym"
                },
                {
                    "name": "Rilpl-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rilpl",
                    "type": "recommended"
                },
                {
                    "name": "CG11448",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11448",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11448",
                    "type": "synonym"
                },
                {
                    "name": "EG:132E8.4",
                    "type": "synonym"
                },
                {
                    "name": "RILP",
                    "type": "synonym"
                },
                {
                    "name": "Rilpl",
                    "type": "synonym"
                }
            ],
            "record_id": "O76878-1",
            "evidence": [
                {
                    "id": "0081300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081300"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081300"
}