{
    "disease_id": "DOID:0110380",
    "recommended_name": {
        "id": "DOID:0110380",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110380",
        "name": "retinitis pigmentosa 62",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110380",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110380",
            "name": "RP62",
            "description": ""
        },
        {
            "id": "MONDO:0013611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "name": "retinitis pigmentosa 62",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene."
        },
        {
            "id": "MONDO:0013611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "name": "MAK retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "name": "RP62",
            "description": ""
        },
        {
            "id": "MONDO:0013611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "name": "retinitis pigmentosa 62",
            "description": ""
        },
        {
            "id": "MONDO:0013611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "name": "retinitis pigmentosa caused by mutation in MAK",
            "description": ""
        },
        {
            "id": "MONDO:0013611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "name": "retinitis pigmentosa type 62",
            "description": ""
        },
        {
            "id": "MIM:614181",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614181",
            "name": "Retinitis pigmentosa 62",
            "description": "Retinitis pigmentosa 62"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110380"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110380",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110380",
            "categories": []
        },
        {
            "id": "MONDO:0013611",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013611",
            "categories": []
        },
        {
            "id": "MIM:614181",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614181",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QUT2-1",
            "uniprot_ac": "F1QUT2",
            "uniprot_id": "F1QUT2_DANRE",
            "refseq_ac": "XP_009295564",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MAK isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mak",
                    "type": "recommended"
                },
                {
                    "name": "Ick",
                    "type": "synonym"
                },
                {
                    "name": "fj04c02",
                    "type": "synonym"
                },
                {
                    "name": "mak",
                    "type": "synonym"
                },
                {
                    "name": "payday",
                    "type": "synonym"
                },
                {
                    "name": "pday",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj04c02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56603",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QUT2-1",
            "evidence": [
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04859-1",
            "uniprot_ac": "Q04859",
            "uniprot_id": "MAK_MOUSE",
            "refseq_ac": "NP_001139274",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase MAK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Male germ cell-associated kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase RCK",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase RCK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MAK isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MAK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mak",
                    "type": "recommended"
                },
                {
                    "name": "A930010O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mak",
                    "type": "synonym"
                },
                {
                    "name": "Rck",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04859-1",
            "evidence": [
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20794-1",
            "uniprot_ac": "P20794",
            "uniprot_id": "MAK_HUMAN",
            "refseq_ac": "NP_001229314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase MAK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Male germ cell-associated kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase MAK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MAK isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAK",
                    "type": "recommended"
                },
                {
                    "name": "MAK",
                    "type": "synonym"
                },
                {
                    "name": "RP62",
                    "type": "synonym"
                }
            ],
            "record_id": "P20794-1",
            "evidence": [
                {
                    "id": "614181",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614181"
                },
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32581-1",
            "uniprot_ac": "P32581",
            "uniprot_id": "IME2_YEAST",
            "refseq_ac": "NP_012429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis induction protein kinase IME2/SME1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase IME2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IME2",
                    "type": "recommended"
                },
                {
                    "name": "IME2",
                    "type": "synonym"
                },
                {
                    "name": "J0817",
                    "type": "synonym"
                },
                {
                    "name": "SME1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32581-1",
            "evidence": [
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20793-1",
            "uniprot_ac": "P20793",
            "uniprot_id": "MAK_RAT",
            "refseq_ac": "NP_037268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase MAK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Male germ cell-associated kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MAK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mak",
                    "type": "recommended"
                },
                {
                    "name": "Mak",
                    "type": "synonym"
                }
            ],
            "record_id": "P20793-1",
            "evidence": [
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL64-1",
            "uniprot_ac": "Q9VL64",
            "uniprot_id": "Q9VL64_DROME",
            "refseq_ac": "NP_723501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG42366-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IME2",
                    "type": "recommended"
                },
                {
                    "name": "CG31711",
                    "type": "synonym"
                },
                {
                    "name": "CG31878",
                    "type": "synonym"
                },
                {
                    "name": "CG42366",
                    "type": "synonym"
                },
                {
                    "name": "CG4588",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42366",
                    "type": "synonym"
                },
                {
                    "name": "IME2",
                    "type": "synonym"
                },
                {
                    "name": "MAK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL64-1",
            "evidence": [
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02487-1",
            "uniprot_ac": "Q02487",
            "uniprot_id": "DSC2_HUMAN",
            "refseq_ac": "NP_004940",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmocollin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Desmocollin-3",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein III",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein II",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 2",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin-2 isoform Dsc2b preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal glycoprotein II/III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSC2",
                    "type": "recommended"
                },
                {
                    "name": "ARVD11",
                    "type": "synonym"
                },
                {
                    "name": "CDHF2",
                    "type": "synonym"
                },
                {
                    "name": "DG2",
                    "type": "synonym"
                },
                {
                    "name": "DGII/III",
                    "type": "synonym"
                },
                {
                    "name": "DSC2",
                    "type": "synonym"
                },
                {
                    "name": "DSC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02487-1",
            "evidence": [
                {
                    "id": "0110380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110380"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110380"
}