{
    "disease_id": "DOID:0080277",
    "recommended_name": {
        "id": "DOID:0080277",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080277",
        "name": "Joubert syndrome 31",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0033310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033310",
            "name": "Joubert syndrome 31",
            "description": ""
        },
        {
            "id": "MONDO:0033310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033310",
            "name": "Joubert syndrome 31",
            "description": ""
        },
        {
            "id": "MONDO:0033310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033310",
            "name": "JBTS31",
            "description": ""
        },
        {
            "id": "MIM:617761",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617761",
            "name": "Joubert syndrome 31",
            "description": "Joubert syndrome 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080277"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080277",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080277",
            "categories": []
        },
        {
            "id": "MONDO:0033310",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033310",
            "categories": []
        },
        {
            "id": "MIM:617761",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617761",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TSG1-1",
            "uniprot_ac": "Q7TSG1",
            "uniprot_id": "CE120_MOUSE",
            "refseq_ac": "NP_848801",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 120 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep120",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 100",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 120 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep120",
                    "type": "recommended"
                },
                {
                    "name": "A230075C01",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc100",
                    "type": "synonym"
                },
                {
                    "name": "Cep120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSG1-1",
            "evidence": [
                {
                    "id": "0080277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N960-1",
            "uniprot_ac": "Q8N960",
            "uniprot_id": "CE120_HUMAN",
            "refseq_ac": "NP_001159698",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 120 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep120",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 100",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 120kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 120 kDa isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 120 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP120",
                    "type": "recommended"
                },
                {
                    "name": "CCDC100",
                    "type": "synonym"
                },
                {
                    "name": "CEP120",
                    "type": "synonym"
                },
                {
                    "name": "JBTS31",
                    "type": "synonym"
                },
                {
                    "name": "SRTD13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N960-1",
            "evidence": [
                {
                    "id": "617761",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617761"
                },
                {
                    "id": "0080277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3J3-1",
            "uniprot_ac": "D4A3J3",
            "uniprot_id": "D4A3J3_RAT",
            "refseq_ac": "NP_001178626",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 120 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 100",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 120kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 120 kDa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 120 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep120",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc100",
                    "type": "synonym"
                },
                {
                    "name": "Cep120",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565619",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A3J3-1",
            "evidence": [
                {
                    "id": "0080277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080277"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080277"
}