{
    "disease_id": "DOID:0110382",
    "recommended_name": {
        "id": "DOID:0110382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110382",
        "name": "retinitis pigmentosa 48",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110382",
            "name": "RP48",
            "description": ""
        },
        {
            "id": "MONDO:0013447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "name": "retinitis pigmentosa 48",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene."
        },
        {
            "id": "MONDO:0013447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "name": "GUCA1B retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "name": "RP48",
            "description": ""
        },
        {
            "id": "MONDO:0013447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "name": "retinitis pigmentosa 48",
            "description": ""
        },
        {
            "id": "MONDO:0013447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "name": "retinitis pigmentosa caused by mutation in GUCA1B",
            "description": ""
        },
        {
            "id": "MONDO:0013447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "name": "retinitis pigmentosa type 48",
            "description": ""
        },
        {
            "id": "MIM:613827",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613827",
            "name": "Retinitis pigmentosa 48",
            "description": "Retinitis pigmentosa 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110382"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110382",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110382",
            "categories": []
        },
        {
            "id": "MONDO:0013447",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013447",
            "categories": []
        },
        {
            "id": "MIM:613827",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613827",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VBV8-1",
            "uniprot_ac": "Q8VBV8",
            "uniprot_id": "GUC1B_MOUSE",
            "refseq_ac": "NP_666191",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "GCAP 2",
                    "type": "synonym"
                },
                {
                    "name": "GCAP2 (retina)",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase activator 1B",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guca1b",
                    "type": "recommended"
                },
                {
                    "name": "GCAP2",
                    "type": "synonym"
                },
                {
                    "name": "Guca1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VBV8-1",
            "evidence": [
                {
                    "id": "0110382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMX6-1",
            "uniprot_ac": "Q9UMX6",
            "uniprot_id": "GUC1B_HUMAN",
            "refseq_ac": "NP_002089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "GCAP 2",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase activator 1B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase activator 1B (retina)",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase-activating protein, photoreceptor 2",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUCA1B",
                    "type": "recommended"
                },
                {
                    "name": "GCAP 2",
                    "type": "synonym"
                },
                {
                    "name": "GCAP-2",
                    "type": "synonym"
                },
                {
                    "name": "GCAP-II",
                    "type": "synonym"
                },
                {
                    "name": "GCAP2",
                    "type": "synonym"
                },
                {
                    "name": "GUCA1B",
                    "type": "synonym"
                },
                {
                    "name": "GUCA2",
                    "type": "synonym"
                },
                {
                    "name": "RP48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMX6-1",
            "evidence": [
                {
                    "id": "613827",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613827"
                },
                {
                    "id": "0110382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZID7-1",
            "uniprot_ac": "D3ZID7",
            "uniprot_id": "D3ZID7_RAT",
            "refseq_ac": "NP_001101668",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Guanylate cyclase activator 1B",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guca1b",
                    "type": "recommended"
                },
                {
                    "name": "Guca1b",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZID7-1",
            "evidence": [
                {
                    "id": "0110382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110382"
}