{
    "disease_id": "DOID:0110365",
    "recommended_name": {
        "id": "DOID:0110365",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110365",
        "name": "retinitis pigmentosa 28",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110365",
            "name": "RP28",
            "description": ""
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "retinitis pigmentosa 28",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene."
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "FAM161A retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "RP28",
            "description": ""
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "retinitis pigmentosa 28",
            "description": ""
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "retinitis pigmentosa caused by mutation in FAM161A",
            "description": ""
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "retinitis pigmentosa type 28",
            "description": ""
        },
        {
            "id": "MONDO:0011630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "name": "RP 28",
            "description": ""
        },
        {
            "id": "MIM:606068",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606068",
            "name": "Retinitis pigmentosa 28",
            "description": "Retinitis pigmentosa 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110365"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110365",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110365",
            "categories": []
        },
        {
            "id": "MONDO:0011630",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011630",
            "categories": []
        },
        {
            "id": "MIM:606068",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606068",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F9W4-1",
            "uniprot_ac": "E7F9W4",
            "uniprot_id": "E7F9W4_DANRE",
            "refseq_ac": "XP_686612",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM161A",
                    "type": "recommended"
                },
                {
                    "name": "protein FAM161A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fam161a",
                    "type": "recommended"
                },
                {
                    "name": "fam161a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9W4-1",
            "evidence": [
                {
                    "id": "0110365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZV6-1",
            "uniprot_ac": "Q8QZV6",
            "uniprot_id": "F161A_MOUSE",
            "refseq_ac": "NP_082948",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM161A",
                    "type": "recommended"
                },
                {
                    "name": "protein FAM161A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM161A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam161a",
                    "type": "recommended"
                },
                {
                    "name": "4930430E16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fam161a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZV6-1",
            "evidence": [
                {
                    "id": "0110365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3B820-1",
            "uniprot_ac": "Q3B820",
            "uniprot_id": "F161A_HUMAN",
            "refseq_ac": "NP_001188472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM161A",
                    "type": "recommended"
                },
                {
                    "name": "FAM161A, centrosomal protein",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 161 member A",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM161A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM161A",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 28 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAM161A",
                    "type": "recommended"
                },
                {
                    "name": "FAM161A",
                    "type": "synonym"
                },
                {
                    "name": "RP28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3B820-1",
            "evidence": [
                {
                    "id": "606068",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606068"
                },
                {
                    "id": "0110365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY14-1",
            "uniprot_ac": "Q6AY14",
            "uniprot_id": "F161A_RAT",
            "refseq_ac": "NP_001013898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FAM161A",
                    "type": "recommended"
                },
                {
                    "name": "FAM161A, centrosomal protein",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 161, member A",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM161A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam161a",
                    "type": "recommended"
                },
                {
                    "name": "Fam161a",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304999",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY14-1",
            "evidence": [
                {
                    "id": "0110365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN94-1",
            "uniprot_ac": "Q9VN94",
            "uniprot_id": "Q9VN94_DROME",
            "refseq_ac": "NP_001262277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1113-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fam161",
                    "type": "recommended"
                },
                {
                    "name": "CG1113",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1113",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1113",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN94-1",
            "evidence": [
                {
                    "id": "0110365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110365"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110365"
}