{
    "disease_id": "DOID:0081447",
    "recommended_name": {
        "id": "DOID:0081447",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081447",
        "name": "cone-rod dystrophy 21",
        "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "name": "cone-rod dystrophy 21",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene."
        },
        {
            "id": "MONDO:0014669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "name": "DRAM2 cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "name": "cone-rod dystrophy 21",
            "description": ""
        },
        {
            "id": "MONDO:0014669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "name": "cone-rod dystrophy caused by mutation in DRAM2",
            "description": ""
        },
        {
            "id": "MONDO:0014669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "name": "cone-rod dystrophy type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "name": "CORD21",
            "description": ""
        },
        {
            "id": "MIM:616502",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616502",
            "name": "Cone-rod dystrophy 21",
            "description": "Cone-rod dystrophy 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081447"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081447",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081447",
            "categories": []
        },
        {
            "id": "MONDO:0014669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014669",
            "categories": []
        },
        {
            "id": "MIM:616502",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616502",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R7U0-1",
            "uniprot_ac": "F1R7U0",
            "uniprot_id": "F1R7U0_DANRE",
            "refseq_ac": "XP_005168328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dram2b",
                    "type": "recommended"
                },
                {
                    "name": "dram2b",
                    "type": "synonym"
                },
                {
                    "name": "dram2",
                    "type": "synonym"
                },
                {
                    "name": "fj35e01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj35e01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86754",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R7U0-1",
            "evidence": [
                {
                    "id": "0081447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CR48-1",
            "uniprot_ac": "Q9CR48",
            "uniprot_id": "DRAM2_MOUSE",
            "refseq_ac": "NP_001273915",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 77",
                    "type": "synonym"
                },
                {
                    "name": "VDNA-damage regulated autophagy modulator 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 77",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dram2",
                    "type": "recommended"
                },
                {
                    "name": "2010305N14Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610318G18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dram2",
                    "type": "synonym"
                },
                {
                    "name": "Tmem77",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR48-1",
            "evidence": [
                {
                    "id": "0081447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UX65-1",
            "uniprot_ac": "Q6UX65",
            "uniprot_id": "DRAM2_HUMAN",
            "refseq_ac": "NP_848549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 77",
                    "type": "synonym"
                },
                {
                    "name": "damage regulated autophagy modulator 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 77",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DRAM2",
                    "type": "recommended"
                },
                {
                    "name": "CORD21",
                    "type": "synonym"
                },
                {
                    "name": "DRAM2",
                    "type": "synonym"
                },
                {
                    "name": "PRO180",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0031",
                    "type": "synonym"
                },
                {
                    "name": "TMEM77",
                    "type": "synonym"
                },
                {
                    "name": "WWFQ154",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UX65-1",
            "evidence": [
                {
                    "id": "616502",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616502"
                },
                {
                    "id": "0081447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35735-1",
            "uniprot_ac": "P35735",
            "uniprot_id": "SFK1_YEAST",
            "refseq_ac": "NP_012873",
            "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": "Protein SFK1",
                    "type": "recommended"
                },
                {
                    "name": "Sfk1p",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of four kinase protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SFK1",
                    "type": "recommended"
                },
                {
                    "name": "SFK1",
                    "type": "synonym"
                },
                {
                    "name": "YKL303",
                    "type": "synonym"
                }
            ],
            "record_id": "P35735-1",
            "evidence": [
                {
                    "id": "0081447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK09-1",
            "uniprot_ac": "Q5BK09",
            "uniprot_id": "DRAM2_RAT",
            "refseq_ac": "NP_001020189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DNA damage-regulated autophagy modulator protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 77",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 77",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dram2",
                    "type": "recommended"
                },
                {
                    "name": "Dram2",
                    "type": "synonym"
                },
                {
                    "name": "Tmem77",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK09-1",
            "evidence": [
                {
                    "id": "0081447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O77262-1",
            "uniprot_ac": "O77262",
            "uniprot_id": "O77262_DROME",
            "refseq_ac": "NP_569979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CWH43-like N-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4025-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-WO0140519.169",
                    "type": "recommended"
                },
                {
                    "name": "CG4025",
                    "type": "synonym"
                },
                {
                    "name": "DRAM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4025",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4025",
                    "type": "synonym"
                },
                {
                    "name": "EG:22E5.9",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.169",
                    "type": "synonym"
                }
            ],
            "record_id": "O77262-1",
            "evidence": [
                {
                    "id": "0081447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081447"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081447"
}