{
    "disease_id": "DOID:0110404",
    "recommended_name": {
        "id": "DOID:0110404",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110404",
        "name": "retinitis pigmentosa 17",
        "description": "A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1."
    },
    "synonyms": [
        {
            "id": "DOID:0110404",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110404",
            "name": "RP17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa 17",
            "description": "Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1."
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "CA4 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "RP17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa 17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa caused by mutation in CA4",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa type 17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "RP 17",
            "description": ""
        },
        {
            "id": "MIM:600852",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600852",
            "name": "Retinitis pigmentosa 17",
            "description": "Retinitis pigmentosa 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110404"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110404",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110404",
            "categories": []
        },
        {
            "id": "MONDO:0010945",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "categories": []
        },
        {
            "id": "MIM:600852",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600852",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P22748-1",
            "uniprot_ac": "P22748",
            "uniprot_id": "CAH4_HUMAN",
            "refseq_ac": "NP_000708",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase 4",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CA-IV",
                    "type": "synonym"
                },
                {
                    "name": "Carbonate dehydratase IV",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase IV",
                    "type": "synonym"
                },
                {
                    "name": "carbonate dehydratase IV",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase IV",
                    "type": "synonym"
                },
                {
                    "name": "carbonic dehydratase IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CA4",
                    "type": "recommended"
                },
                {
                    "name": "CA4",
                    "type": "synonym"
                },
                {
                    "name": "CAIV",
                    "type": "synonym"
                },
                {
                    "name": "Car4",
                    "type": "synonym"
                },
                {
                    "name": "RP17",
                    "type": "synonym"
                }
            ],
            "record_id": "P22748-1",
            "evidence": [
                {
                    "id": "600852",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600852"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110404"
}