{
    "disease_id": "DOID:0111274",
    "recommended_name": {
        "id": "DOID:0111274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111274",
        "name": "CODAS syndrome",
        "description": "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111274",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111274",
            "name": "cerebral, ocular, dental, auricular, and skeletal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111274",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111274",
            "name": "cerebro-oculo-dento-auriculo-skeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010879",
            "name": "CODAS syndrome",
            "description": "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies."
        },
        {
            "id": "MONDO:0010879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010879",
            "name": "CODAS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010879",
            "name": "cerebrooculodentoauriculoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010879",
            "name": "cerebral, ocular, dental, auricular, and skeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010879",
            "name": "cerebro-oculo-dento-auriculo-skeletal syndrome",
            "description": ""
        },
        {
            "id": "MIM:600373",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600373",
            "name": "CODAS syndrome",
            "description": "CODAS syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111274"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111274",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111274",
            "categories": []
        },
        {
            "id": "MONDO:0010879",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010879",
            "categories": []
        },
        {
            "id": "MIM:600373",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600373",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IH79-1",
            "uniprot_ac": "A0A0R4IH79",
            "uniprot_id": "A0A0R4IH79_DANRE",
            "refseq_ac": "XP_691712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lon protease homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.53",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lonp1",
                    "type": "recommended"
                },
                {
                    "name": "LONP1",
                    "type": "synonym"
                },
                {
                    "name": "lonp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IH79-1",
            "evidence": [
                {
                    "id": "0111274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGK3-1",
            "uniprot_ac": "Q8CGK3",
            "uniprot_id": "LONM_MOUSE",
            "refseq_ac": "NP_083058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lon protease homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.53",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "LONP",
                    "type": "synonym"
                },
                {
                    "name": "Lon protease-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ATP-dependent protease Lon",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial chaperone LONP1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 15",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "lon protease-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP-dependent protease Lon",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 15",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lonp1",
                    "type": "recommended"
                },
                {
                    "name": "1200017E13Rik",
                    "type": "synonym"
                },
                {
                    "name": "LON",
                    "type": "synonym"
                },
                {
                    "name": "Lonp1",
                    "type": "synonym"
                },
                {
                    "name": "Prss15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGK3-1",
            "evidence": [
                {
                    "id": "0111274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36776-1",
            "uniprot_ac": "P36776",
            "uniprot_id": "LONM_HUMAN",
            "refseq_ac": "NP_001263408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lon protease homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.53",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "LONHs",
                    "type": "synonym"
                },
                {
                    "name": "LONP",
                    "type": "synonym"
                },
                {
                    "name": "Lon protease-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ATP-dependent protease Lon",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial chaperone LONP1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 15",
                    "type": "synonym"
                },
                {
                    "name": "hLON ATP-dependent protease",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP-dependent protease Lon",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial lon protease-like protein",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LONP1",
                    "type": "recommended"
                },
                {
                    "name": "CODASS",
                    "type": "synonym"
                },
                {
                    "name": "LONP1",
                    "type": "synonym"
                },
                {
                    "name": "LONP",
                    "type": "synonym"
                },
                {
                    "name": "LON",
                    "type": "synonym"
                },
                {
                    "name": "LonHS",
                    "type": "synonym"
                },
                {
                    "name": "Lon",
                    "type": "synonym"
                },
                {
                    "name": "PIM1",
                    "type": "synonym"
                },
                {
                    "name": "PRSS15",
                    "type": "synonym"
                },
                {
                    "name": "hLON",
                    "type": "synonym"
                }
            ],
            "record_id": "P36776-1",
            "evidence": [
                {
                    "id": "600373",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600373"
                },
                {
                    "id": "0111274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36775-1",
            "uniprot_ac": "P36775",
            "uniprot_id": "LONM_YEAST",
            "refseq_ac": "NP_009531",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lon protease homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.53",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent Lon protease PIM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIM1",
                    "type": "recommended"
                },
                {
                    "name": "LON",
                    "type": "synonym"
                },
                {
                    "name": "PIM1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0440",
                    "type": "synonym"
                }
            ],
            "record_id": "P36775-1",
            "evidence": [
                {
                    "id": "0111274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924S5-1",
            "uniprot_ac": "Q924S5",
            "uniprot_id": "LONM_RAT",
            "refseq_ac": "NP_596895",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lon protease homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.53",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "LONP",
                    "type": "synonym"
                },
                {
                    "name": "Lon protease-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ATP-dependent protease Lon",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial chaperone LONP1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 15",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "lon protease homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "lon protease-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP-dependent protease Lon",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 15",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lonp1",
                    "type": "recommended"
                },
                {
                    "name": "LONP1",
                    "type": "synonym"
                },
                {
                    "name": "Lonp1",
                    "type": "synonym"
                },
                {
                    "name": "Lon",
                    "type": "synonym"
                },
                {
                    "name": "Prss15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924S5-1",
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                {
                    "id": "0111274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KUT2-1",
            "uniprot_ac": "Q7KUT2",
            "uniprot_id": "LONM_DROME",
            "refseq_ac": "NP_649133",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lon protease homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.53",
                    "type": "synonym"
                },
                {
                    "name": "CG8798-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lon protease, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Lon-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lon",
                    "type": "recommended"
                },
                {
                    "name": "CG8798",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8798",
                    "type": "synonym"
                },
                {
                    "name": "LONP1",
                    "type": "synonym"
                },
                {
                    "name": "LONP",
                    "type": "synonym"
                },
                {
                    "name": "LON",
                    "type": "synonym"
                },
                {
                    "name": "Lon",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.350",
                    "type": "synonym"
                },
                {
                    "name": "dLon P1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KUT2-1",
            "evidence": [
                {
                    "id": "0111274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111274"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111274"
}