{
    "disease_id": "DOID:0112141",
    "recommended_name": {
        "id": "DOID:0112141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112141",
        "name": "retinitis pigmentosa 84",
        "description": "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112141",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112141",
            "name": "RP84",
            "description": ""
        },
        {
            "id": "MONDO:0032604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032604",
            "name": "retinitis pigmentosa 84",
            "description": ""
        },
        {
            "id": "MONDO:0032604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032604",
            "name": "RP84",
            "description": ""
        },
        {
            "id": "MIM:618220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618220",
            "name": "Retinitis pigmentosa 84",
            "description": "Retinitis pigmentosa 84"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112141"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112141",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112141",
            "categories": []
        },
        {
            "id": "MONDO:0032604",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032604",
            "categories": []
        },
        {
            "id": "MIM:618220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q92620-1",
            "uniprot_ac": "Q92620",
            "uniprot_id": "PRP16_HUMAN",
            "refseq_ac": "NP_054722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DHX38",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 38",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 38",
                    "type": "synonym"
                },
                {
                    "name": "PRP16 homolog of S.cerevisiae",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA processing factor 16",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHX38",
                    "type": "recommended"
                },
                {
                    "name": "DDX38",
                    "type": "synonym"
                },
                {
                    "name": "DHX38",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0224",
                    "type": "synonym"
                },
                {
                    "name": "PRP16",
                    "type": "synonym"
                },
                {
                    "name": "PRPF16",
                    "type": "synonym"
                },
                {
                    "name": "RP84",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92620-1",
            "evidence": [
                {
                    "id": "618220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618220"
                },
                {
                    "id": "0112141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15938-1",
            "uniprot_ac": "P15938",
            "uniprot_id": "PRP16_YEAST",
            "refseq_ac": "NP_013012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "DEAH-box RNA helicase PRP16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRP16",
                    "type": "recommended"
                },
                {
                    "name": "PRP16",
                    "type": "synonym"
                },
                {
                    "name": "PRP23",
                    "type": "synonym"
                },
                {
                    "name": "RNA16",
                    "type": "synonym"
                },
                {
                    "name": "YKR406",
                    "type": "synonym"
                }
            ],
            "record_id": "P15938-1",
            "evidence": [
                {
                    "id": "0112141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A321-1",
            "uniprot_ac": "D4A321",
            "uniprot_id": "D4A321_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DHX38",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhx38",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A321-1",
            "evidence": [
                {
                    "id": "0112141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VY54-1",
            "uniprot_ac": "Q9VY54",
            "uniprot_id": "Q9VY54_DROME",
            "refseq_ac": "NP_572947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "CG32604-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prp16-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0007",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA processing factor 16, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prp16",
                    "type": "recommended"
                },
                {
                    "name": "CG1375",
                    "type": "synonym"
                },
                {
                    "name": "CG1405",
                    "type": "synonym"
                },
                {
                    "name": "CG32604",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32604",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32604",
                    "type": "synonym"
                },
                {
                    "name": "EP764",
                    "type": "synonym"
                },
                {
                    "name": "EP784",
                    "type": "synonym"
                },
                {
                    "name": "Prp16",
                    "type": "synonym"
                },
                {
                    "name": "cg1405",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0007",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0028",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0103",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0176",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0308",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0416",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0476",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0491",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0007",
                    "type": "synonym"
                },
                {
                    "name": "prp16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VY54-1",
            "evidence": [
                {
                    "id": "0112141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112141"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112141"
}