{
    "disease_id": "DOID:0110368",
    "recommended_name": {
        "id": "DOID:0110368",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110368",
        "name": "retinitis pigmentosa 26",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110368",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110368",
            "name": "RP26",
            "description": ""
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "retinitis pigmentosa 26",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene."
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "CERKL retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "RP26",
            "description": ""
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "retinitis pigmentosa 26",
            "description": ""
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "retinitis pigmentosa caused by mutation in CERKL",
            "description": ""
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "retinitis pigmentosa type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "name": "RP 26",
            "description": ""
        },
        {
            "id": "MIM:608380",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608380",
            "name": "Retinitis pigmentosa 26",
            "description": "Retinitis pigmentosa 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110368"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110368",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110368",
            "categories": []
        },
        {
            "id": "MONDO:0012024",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012024",
            "categories": []
        },
        {
            "id": "MIM:608380",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608380",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2AQH1-1",
            "uniprot_ac": "A2AQH1",
            "uniprot_id": "A2AQH1_MOUSE",
            "refseq_ac": "NP_001041641",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide kinase-like",
                    "type": "synonym"
                },
                {
                    "name": "ceramide kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 26 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cerkl",
                    "type": "recommended"
                },
                {
                    "name": "Cerkl",
                    "type": "synonym"
                },
                {
                    "name": "Gm1958",
                    "type": "synonym"
                },
                {
                    "name": "Rp26",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AQH1-1",
            "evidence": [
                {
                    "id": "0110368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q49MI3-1",
            "uniprot_ac": "Q49MI3",
            "uniprot_id": "CERKL_HUMAN",
            "refseq_ac": "NP_001025482",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "ceramide kinase like",
                    "type": "synonym"
                },
                {
                    "name": "ceramide kinase-like protein isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CERKL",
                    "type": "recommended"
                },
                {
                    "name": "CERKL",
                    "type": "synonym"
                },
                {
                    "name": "RP26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q49MI3-1",
            "evidence": [
                {
                    "id": "608380",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608380"
                },
                {
                    "id": "0110368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M6A9-1",
            "uniprot_ac": "F1M6A9",
            "uniprot_id": "F1M6A9_RAT",
            "refseq_ac": "XP_056841364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide kinase-like",
                    "type": "synonym"
                },
                {
                    "name": "ceramide kinase-like protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cerkl",
                    "type": "recommended"
                },
                {
                    "name": "Cerkl",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M6A9-1",
            "evidence": [
                {
                    "id": "0110368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110368"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110368"
}