{
    "disease_id": "DOID:0070010",
    "recommended_name": {
        "id": "DOID:0070010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070010",
        "name": "Seckel syndrome 4",
        "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070010",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070010",
            "name": "SCKL4",
            "description": ""
        },
        {
            "id": "MONDO:0013358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "name": "Seckel syndrome 4",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene."
        },
        {
            "id": "MONDO:0013358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "name": "CENPJ Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "name": "SCKL4",
            "description": ""
        },
        {
            "id": "MONDO:0013358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "name": "Seckel syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "name": "Seckel syndrome caused by mutation in CENPJ",
            "description": ""
        },
        {
            "id": "MONDO:0013358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "name": "Seckel syndrome type 4",
            "description": ""
        },
        {
            "id": "MIM:613676",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613676",
            "name": "Seckel syndrome 4",
            "description": "Seckel syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070010"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070010",
            "categories": []
        },
        {
            "id": "MONDO:0013358",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013358",
            "categories": []
        },
        {
            "id": "MIM:613676",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613676",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q569L8-1",
            "uniprot_ac": "Q569L8",
            "uniprot_id": "CPAP_MOUSE",
            "refseq_ac": "NP_001014996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal P4.1-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome assembly and centriole elongation protein",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpap",
                    "type": "recommended"
                },
                {
                    "name": "4932437H03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cenpj",
                    "type": "synonym"
                },
                {
                    "name": "Cpap",
                    "type": "synonym"
                },
                {
                    "name": "Gm81",
                    "type": "synonym"
                },
                {
                    "name": "LAP",
                    "type": "synonym"
                },
                {
                    "name": "LIP1",
                    "type": "synonym"
                },
                {
                    "name": "Sas4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q569L8-1",
            "evidence": [
                {
                    "id": "0070010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC77-1",
            "uniprot_ac": "Q9HC77",
            "uniprot_id": "CPAP_HUMAN",
            "refseq_ac": "NP_060921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal P4.1-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome assembly and centriole elongation protein",
                    "type": "synonym"
                },
                {
                    "name": "LAG-3-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein LIP1",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein LIP7",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly abnormal 4",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPAP",
                    "type": "recommended"
                },
                {
                    "name": "BM032",
                    "type": "synonym"
                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "CENPJ",
                    "type": "synonym"
                },
                {
                    "name": "CPAP",
                    "type": "synonym"
                },
                {
                    "name": "LAP",
                    "type": "synonym"
                },
                {
                    "name": "LIP1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH6",
                    "type": "synonym"
                },
                {
                    "name": "SASS4",
                    "type": "synonym"
                },
                {
                    "name": "SCKL4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC77-1",
            "evidence": [
                {
                    "id": "613676",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613676"
                },
                {
                    "id": "0070010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LZN8-1",
            "uniprot_ac": "A0ABK0LZN8",
            "uniprot_id": "A0ABK0LZN8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal P4.1-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "Centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome assembly and centriole elongation protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpap",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LZN8-1",
            "evidence": [
                {
                    "id": "0070010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VI72-1",
            "uniprot_ac": "Q9VI72",
            "uniprot_id": "Q9VI72_DROME",
            "refseq_ac": "NP_649701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10061-PA",
                    "type": "synonym"
                },
                {
                    "name": "DSas-4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly abnormal 4",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Sas-4",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4 orthologue",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sas-4",
                    "type": "recommended"
                },
                {
                    "name": "CENPJ",
                    "type": "synonym"
                },
                {
                    "name": "CG10061",
                    "type": "synonym"
                },
                {
                    "name": "CPAP",
                    "type": "synonym"
                },
                {
                    "name": "D-Sas4",
                    "type": "synonym"
                },
                {
                    "name": "D-sas4",
                    "type": "synonym"
                },
                {
                    "name": "DSAS-4",
                    "type": "synonym"
                },
                {
                    "name": "DSas-4",
                    "type": "synonym"
                },
                {
                    "name": "DSas4",
                    "type": "synonym"
                },
                {
                    "name": "DmSas4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10061",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10061",
                    "type": "synonym"
                },
                {
                    "name": "Dsas-4",
                    "type": "synonym"
                },
                {
                    "name": "Dsas4",
                    "type": "synonym"
                },
                {
                    "name": "SAS-4",
                    "type": "synonym"
                },
                {
                    "name": "SAS4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4",
                    "type": "synonym"
                },
                {
                    "name": "Sas4",
                    "type": "synonym"
                },
                {
                    "name": "d-SAS-4",
                    "type": "synonym"
                },
                {
                    "name": "dCPAP",
                    "type": "synonym"
                },
                {
                    "name": "dsas-4",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S2214",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2214",
                    "type": "synonym"
                },
                {
                    "name": "sas-4",
                    "type": "synonym"
                },
                {
                    "name": "sas4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VI72-1",
            "evidence": [
                {
                    "id": "0070010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070010"
}