{
    "disease_id": "DOID:0070012",
    "recommended_name": {
        "id": "DOID:0070012",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070012",
        "name": "Seckel syndrome 5",
        "description": "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070012",
            "name": "SCKL5",
            "description": ""
        },
        {
            "id": "MONDO:0013443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "name": "Seckel syndrome 5",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene."
        },
        {
            "id": "MONDO:0013443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "name": "CEP152 Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "name": "SCKL5",
            "description": ""
        },
        {
            "id": "MONDO:0013443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "name": "Seckel syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0013443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "name": "Seckel syndrome caused by mutation in CEP152",
            "description": ""
        },
        {
            "id": "MONDO:0013443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "name": "Seckel syndrome type 5",
            "description": ""
        },
        {
            "id": "MIM:613823",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613823",
            "name": "Seckel syndrome 5",
            "description": "Seckel syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070012"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070012",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070012",
            "categories": []
        },
        {
            "id": "MONDO:0013443",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013443",
            "categories": []
        },
        {
            "id": "MIM:613823",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613823",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2AUM9-1",
            "uniprot_ac": "A2AUM9",
            "uniprot_id": "CE152_MOUSE",
            "refseq_ac": "NP_001074560",
            "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 152 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep152",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 152 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep152",
                    "type": "recommended"
                },
                {
                    "name": "Cep152",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0912",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0912",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AUM9-1",
            "evidence": [
                {
                    "id": "0070012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94986-4",
            "uniprot_ac": "O94986",
            "uniprot_id": "CE152_HUMAN",
            "refseq_ac": "NP_001181927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 152 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep152",
                    "type": "synonym"
                },
                {
                    "name": "asterless",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 152kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 152 kDa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "microcephaly, primary autosomal recessive 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP152",
                    "type": "recommended"
                },
                {
                    "name": "CEP152",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0912",
                    "type": "synonym"
                },
                {
                    "name": "MCPH4",
                    "type": "synonym"
                },
                {
                    "name": "MCPH9",
                    "type": "synonym"
                },
                {
                    "name": "SCKL5",
                    "type": "synonym"
                }
            ],
            "record_id": "O94986-4",
            "evidence": [
                {
                    "id": "613823",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613823"
                },
                {
                    "id": "0070012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M6U6-1",
            "uniprot_ac": "A0ABK0M6U6",
            "uniprot_id": "A0ABK0M6U6_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 protein 152",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep152",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M6U6-1",
            "evidence": [
                {
                    "id": "0070012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070012"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070012"
}