{
    "disease_id": "DOID:0110419",
    "recommended_name": {
        "id": "DOID:0110419",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110419",
        "name": "retinitis pigmentosa with or without situs inversus",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014186",
            "name": "retinitis pigmentosa with or without situs inversus",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene."
        },
        {
            "id": "MONDO:0014186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014186",
            "name": "ARL2BP retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014186",
            "name": "retinitis pigmentosa caused by mutation in ARL2BP",
            "description": ""
        },
        {
            "id": "MONDO:0014186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014186",
            "name": "retinitis pigmentosa with or without situs inversus",
            "description": ""
        },
        {
            "id": "MIM:615434",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615434",
            "name": "Retinitis pigmentosa 82 with or without situs inversus",
            "description": "Retinitis pigmentosa 82 with or without situs inversus"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110419"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110419",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110419",
            "categories": []
        },
        {
            "id": "MONDO:0014186",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014186",
            "categories": []
        },
        {
            "id": "MIM:615434",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615434",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SYL1-1",
            "uniprot_ac": "Q7SYL1",
            "uniprot_id": "AR2BP_DANRE",
            "refseq_ac": "XP_073785097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ARF-like 2-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arl2bp",
                    "type": "recommended"
                },
                {
                    "name": "BART1",
                    "type": "synonym"
                },
                {
                    "name": "arl2bp",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66308",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77496",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYL1-1",
            "evidence": [
                {
                    "id": "0110419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D385-1",
            "uniprot_ac": "Q9D385",
            "uniprot_id": "AR2BP_MOUSE",
            "refseq_ac": "NP_077153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation-like 2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ARF-like 2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Binder of ARF2 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "binder of ARF2 protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl2bp",
                    "type": "recommended"
                },
                {
                    "name": "1700010P10Rik",
                    "type": "synonym"
                },
                {
                    "name": "1700027H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330544B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arl2bp",
                    "type": "synonym"
                },
                {
                    "name": "BART",
                    "type": "synonym"
                },
                {
                    "name": "Bart1",
                    "type": "synonym"
                },
                {
                    "name": "Bart",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D385-1",
            "evidence": [
                {
                    "id": "0110419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2Y0-1",
            "uniprot_ac": "Q9Y2Y0",
            "uniprot_id": "AR2BP_HUMAN",
            "refseq_ac": "NP_036238",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor like GTPase 2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor like 2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ARF-like 2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ARL2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Arf-like 2 binding protein BART1",
                    "type": "synonym"
                },
                {
                    "name": "Binder of ARF2 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "binder of ARF2 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "binder of Arl Two",
                    "type": "synonym"
                },
                {
                    "name": "binder of Arl2",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 66 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARL2BP",
                    "type": "recommended"
                },
                {
                    "name": "ARL2BP",
                    "type": "synonym"
                },
                {
                    "name": "BART1",
                    "type": "synonym"
                },
                {
                    "name": "BART",
                    "type": "synonym"
                },
                {
                    "name": "RP66",
                    "type": "synonym"
                },
                {
                    "name": "RP82",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2Y0-1",
            "evidence": [
                {
                    "id": "615434",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615434"
                },
                {
                    "id": "0110419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8C5-1",
            "uniprot_ac": "Q4V8C5",
            "uniprot_id": "AR2BP_RAT",
            "refseq_ac": "NP_001020077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor like GTPase 2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like 2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ARF-like 2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Binder of ARF2 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "binder of ARF2 protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl2bp",
                    "type": "recommended"
                },
                {
                    "name": "Arl2bp",
                    "type": "synonym"
                },
                {
                    "name": "Bart1",
                    "type": "synonym"
                },
                {
                    "name": "Bart",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8C5-1",
            "evidence": [
                {
                    "id": "0110419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110419"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110419"
}