{
    "disease_id": "DOID:0110367",
    "recommended_name": {
        "id": "DOID:0110367",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110367",
        "name": "retinitis pigmentosa 38",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110367",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110367",
            "name": "RP38",
            "description": ""
        },
        {
            "id": "MONDO:0013469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "name": "retinitis pigmentosa 38",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene."
        },
        {
            "id": "MONDO:0013469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "name": "MERTK retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "name": "RP38",
            "description": ""
        },
        {
            "id": "MONDO:0013469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "name": "retinitis pigmentosa 38",
            "description": ""
        },
        {
            "id": "MONDO:0013469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "name": "retinitis pigmentosa caused by mutation in MERTK",
            "description": ""
        },
        {
            "id": "MONDO:0013469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "name": "retinitis pigmentosa type 38",
            "description": ""
        },
        {
            "id": "MIM:613862",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613862",
            "name": "Retinitis pigmentosa 38",
            "description": "Retinitis pigmentosa 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110367"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110367",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110367",
            "categories": []
        },
        {
            "id": "MONDO:0013469",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013469",
            "categories": []
        },
        {
            "id": "MIM:613862",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613862",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QWE3-1",
            "uniprot_ac": "F1QWE3",
            "uniprot_id": "F1QWE3_DANRE",
            "refseq_ac": "XP_002664277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Mer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mertka",
                    "type": "recommended"
                },
                {
                    "name": "mertka",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QWE3-1",
            "evidence": [
                {
                    "id": "0110367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60805-1",
            "uniprot_ac": "Q60805",
            "uniprot_id": "MERTK_MOUSE",
            "refseq_ac": "NP_032613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Mer",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Mer",
                    "type": "synonym"
                },
                {
                    "name": "Receptor tyrosine kinase MerTK",
                    "type": "synonym"
                },
                {
                    "name": "Tyro 12",
                    "type": "synonym"
                },
                {
                    "name": "c-mer proto-oncogene tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Mer",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase Mer",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine kinase MerTK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Mer isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mertk",
                    "type": "recommended"
                },
                {
                    "name": "Eyk",
                    "type": "synonym"
                },
                {
                    "name": "Mertk",
                    "type": "synonym"
                },
                {
                    "name": "Mer",
                    "type": "synonym"
                },
                {
                    "name": "Nyk",
                    "type": "synonym"
                },
                {
                    "name": "nmf12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60805-1",
            "evidence": [
                {
                    "id": "0110367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12866-1",
            "uniprot_ac": "Q12866",
            "uniprot_id": "MERTK_HUMAN",
            "refseq_ac": "NP_006334",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Mer",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "MER receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Mer",
                    "type": "synonym"
                },
                {
                    "name": "Receptor tyrosine kinase MerTK",
                    "type": "synonym"
                },
                {
                    "name": "STK kinase",
                    "type": "synonym"
                },
                {
                    "name": "c-mer proto-oncogene tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Mer",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine kinase MerTK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Mer precursor",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Mer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MERTK",
                    "type": "recommended"
                },
                {
                    "name": "MERTK",
                    "type": "synonym"
                },
                {
                    "name": "MER",
                    "type": "synonym"
                },
                {
                    "name": "RP38",
                    "type": "synonym"
                },
                {
                    "name": "Tyro12",
                    "type": "synonym"
                },
                {
                    "name": "c-Eyk",
                    "type": "synonym"
                },
                {
                    "name": "c-mer",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12866-1",
            "evidence": [
                {
                    "id": "613862",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613862"
                },
                {
                    "id": "0110367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57097-1",
            "uniprot_ac": "P57097",
            "uniprot_id": "MERTK_RAT",
            "refseq_ac": "NP_075232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Mer",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Mer",
                    "type": "synonym"
                },
                {
                    "name": "Receptor tyrosine kinase MerTK",
                    "type": "synonym"
                },
                {
                    "name": "Receptor tyrosine tinase gene probably the gene for Rdy",
                    "type": "synonym"
                },
                {
                    "name": "c-mer proto-oncogene tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Mer",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase MER",
                    "type": "synonym"
                },
                {
                    "name": "receptor tyrosine kinase MerTK",
                    "type": "synonym"
                },
                {
                    "name": "retinal dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Mer precursor",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Mer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mertk",
                    "type": "recommended"
                },
                {
                    "name": "Mertk",
                    "type": "synonym"
                },
                {
                    "name": "Mer",
                    "type": "synonym"
                },
                {
                    "name": "rdy",
                    "type": "synonym"
                }
            ],
            "record_id": "P57097-1",
            "evidence": [
                {
                    "id": "0110367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110367"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110367"
}