{
    "disease_id": "DOID:0070006",
    "recommended_name": {
        "id": "DOID:0070006",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070006",
        "name": "Seckel syndrome 6",
        "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070006",
            "name": "SCKL6",
            "description": ""
        },
        {
            "id": "MONDO:0013871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "name": "Seckel syndrome 6",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene."
        },
        {
            "id": "MONDO:0013871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "name": "CEP63 Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "name": "SCKL6",
            "description": ""
        },
        {
            "id": "MONDO:0013871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "name": "Seckel syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0013871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "name": "Seckel syndrome caused by mutation in CEP63",
            "description": ""
        },
        {
            "id": "MONDO:0013871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "name": "Seckel syndrome type 6",
            "description": ""
        },
        {
            "id": "MIM:614728",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614728",
            "name": "Seckel syndrome 6",
            "description": "Seckel syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070006"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070006",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070006",
            "categories": []
        },
        {
            "id": "MONDO:0013871",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013871",
            "categories": []
        },
        {
            "id": "MIM:614728",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614728",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PGZ0-1",
            "uniprot_ac": "Q6PGZ0",
            "uniprot_id": "CEP63_DANRE",
            "refseq_ac": "NP_956896",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 63 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep63",
                    "type": "recommended"
                },
                {
                    "name": "cep63",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63548",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PGZ0-1",
            "evidence": [
                {
                    "id": "0070006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UPP8-1",
            "uniprot_ac": "Q3UPP8",
            "uniprot_id": "CEP63_MOUSE",
            "refseq_ac": "NP_001394630",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 63 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosome protein Cep63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep63",
                    "type": "recommended"
                },
                {
                    "name": "4921501M07",
                    "type": "synonym"
                },
                {
                    "name": "AL450317.13gm1",
                    "type": "synonym"
                },
                {
                    "name": "CD20R",
                    "type": "synonym"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                },
                {
                    "name": "D9Mgc41",
                    "type": "synonym"
                },
                {
                    "name": "D9Mgc48e",
                    "type": "synonym"
                },
                {
                    "name": "ET2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UPP8-1",
            "evidence": [
                {
                    "id": "0070006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MT8-1",
            "uniprot_ac": "Q96MT8",
            "uniprot_id": "CEP63_HUMAN",
            "refseq_ac": "NP_001035842",
            "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 63 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 63kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa isoform c",
                    "type": "synonym"
                },
                {
                    "name": "centrosome protein CEP63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP63",
                    "type": "recommended"
                },
                {
                    "name": "CEP63",
                    "type": "synonym"
                },
                {
                    "name": "SCKL6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MT8-1",
            "evidence": [
                {
                    "id": "614728",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614728"
                },
                {
                    "id": "0070006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLY0-1",
            "uniprot_ac": "Q4KLY0",
            "uniprot_id": "CEP63_RAT",
            "refseq_ac": "NP_001032861",
            "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 63 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 63kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep63",
                    "type": "recommended"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLY0-1",
            "evidence": [
                {
                    "id": "0070006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070006"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070006"
}