{
    "disease_id": "DOID:0112142",
    "recommended_name": {
        "id": "DOID:0112142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112142",
        "name": "retinitis pigmentosa 85",
        "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112142",
            "name": "RP85",
            "description": ""
        },
        {
            "id": "MONDO:0032689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032689",
            "name": "retinitis pigmentosa 85",
            "description": ""
        },
        {
            "id": "MONDO:0032689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032689",
            "name": "RP85",
            "description": ""
        },
        {
            "id": "MIM:618345",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618345",
            "name": "Retinitis pigmentosa 85",
            "description": "Retinitis pigmentosa 85"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112142"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112142",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112142",
            "categories": []
        },
        {
            "id": "MONDO:0032689",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032689",
            "categories": []
        },
        {
            "id": "MIM:618345",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618345",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A9V8-1",
            "uniprot_ac": "A0AB13A9V8",
            "uniprot_id": "A0AB13A9V8_DANRE",
            "refseq_ac": "NP_001417877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl hydrocarbon receptor 1a",
                    "type": "synonym"
                },
                {
                    "name": "aryl hydrocarbon receptor 1a",
                    "type": "synonym"
                },
                {
                    "name": "aryl hydrocarbon receptor a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ahr1a",
                    "type": "recommended"
                },
                {
                    "name": "AHR2",
                    "type": "synonym"
                },
                {
                    "name": "ahr1a",
                    "type": "synonym"
                },
                {
                    "name": "ahr1",
                    "type": "synonym"
                },
                {
                    "name": "ahra",
                    "type": "synonym"
                },
                {
                    "name": "zfAHR1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A9V8-1",
            "evidence": [
                {
                    "id": "0112142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30561-1",
            "uniprot_ac": "P30561",
            "uniprot_id": "AHR_MOUSE",
            "refseq_ac": "NP_038492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl hydrocarbon receptor",
                    "type": "recommended"
                },
                {
                    "name": "Ah receptor",
                    "type": "synonym"
                },
                {
                    "name": "AhR",
                    "type": "synonym"
                },
                {
                    "name": "ah receptor",
                    "type": "synonym"
                },
                {
                    "name": "aryl hydrocarbon receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dioxin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahr",
                    "type": "recommended"
                },
                {
                    "name": "Ahh",
                    "type": "synonym"
                },
                {
                    "name": "Ahre",
                    "type": "synonym"
                },
                {
                    "name": "Ahr",
                    "type": "synonym"
                },
                {
                    "name": "Ah",
                    "type": "synonym"
                },
                {
                    "name": "In",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe76",
                    "type": "synonym"
                }
            ],
            "record_id": "P30561-1",
            "evidence": [
                {
                    "id": "0112142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35869-1",
            "uniprot_ac": "P35869",
            "uniprot_id": "AHR_HUMAN",
            "refseq_ac": "NP_001612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl hydrocarbon receptor",
                    "type": "recommended"
                },
                {
                    "name": "AH-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ah receptor",
                    "type": "synonym"
                },
                {
                    "name": "AhR",
                    "type": "synonym"
                },
                {
                    "name": "Class E basic helix-loop-helix protein 76",
                    "type": "synonym"
                },
                {
                    "name": "ah receptor",
                    "type": "synonym"
                },
                {
                    "name": "aromatic hydrocarbon receptor",
                    "type": "synonym"
                },
                {
                    "name": "aryl hydrocarbon receptor",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe76",
                    "type": "synonym"
                },
                {
                    "name": "class E basic helix-loop-helix protein 76",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AHR",
                    "type": "recommended"
                },
                {
                    "name": "AHR",
                    "type": "synonym"
                },
                {
                    "name": "BHLHE76",
                    "type": "synonym"
                },
                {
                    "name": "FVH3",
                    "type": "synonym"
                },
                {
                    "name": "RP85",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe76",
                    "type": "synonym"
                }
            ],
            "record_id": "P35869-1",
            "evidence": [
                {
                    "id": "618345",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618345"
                },
                {
                    "id": "0112142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41738-1",
            "uniprot_ac": "P41738",
            "uniprot_id": "AHR_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": "Aryl hydrocarbon receptor",
                    "type": "recommended"
                },
                {
                    "name": "Ah receptor",
                    "type": "synonym"
                },
                {
                    "name": "AhR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahr",
                    "type": "recommended"
                }
            ],
            "record_id": "P41738-1",
            "evidence": [
                {
                    "id": "0112142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIM6-1",
            "uniprot_ac": "E1JIM6",
            "uniprot_id": "E1JIM6_DROME",
            "refseq_ac": "NP_001163629",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6993-PD",
                    "type": "synonym"
                },
                {
                    "name": "Spineless, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Spineless, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "spineless, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "spineless-aristapedia",
                    "type": "synonym"
                },
                {
                    "name": "ss-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ss",
                    "type": "recommended"
                },
                {
                    "name": "AHR",
                    "type": "synonym"
                },
                {
                    "name": "AhR",
                    "type": "synonym"
                },
                {
                    "name": "CG6993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6993",
                    "type": "synonym"
                },
                {
                    "name": "SS",
                    "type": "synonym"
                },
                {
                    "name": "Ss",
                    "type": "synonym"
                },
                {
                    "name": "dAHR",
                    "type": "synonym"
                },
                {
                    "name": "ssa",
                    "type": "synonym"
                },
                {
                    "name": "ss",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIM6-1",
            "evidence": [
                {
                    "id": "0112142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13286-1",
            "uniprot_ac": "Q13286",
            "uniprot_id": "CLN3_HUMAN",
            "refseq_ac": "NP_000077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Battenin",
                    "type": "recommended"
                },
                {
                    "name": "Batten disease protein",
                    "type": "synonym"
                },
                {
                    "name": "CLN3, battenin",
                    "type": "synonym"
                },
                {
                    "name": "Protein CLN3",
                    "type": "synonym"
                },
                {
                    "name": "batten disease protein",
                    "type": "synonym"
                },
                {
                    "name": "battenin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "battenin",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLN3",
                    "type": "recommended"
                },
                {
                    "name": "BTN1",
                    "type": "synonym"
                },
                {
                    "name": "BTS",
                    "type": "synonym"
                },
                {
                    "name": "CLN3",
                    "type": "synonym"
                },
                {
                    "name": "JNCL",
                    "type": "synonym"
                },
                {
                    "name": "RP101",
                    "type": "synonym"
                },
                {
                    "name": "SLC29B1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13286-1",
            "evidence": [
                {
                    "id": "0112142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112142"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112142"
}