{
    "disease_id": "DOID:0070292",
    "recommended_name": {
        "id": "DOID:0070292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070292",
        "name": "primary autosomal recessive microcephaly 9",
        "description": "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070292",
            "name": "MCPH9",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "microcephaly 9, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene."
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "CEP152 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "autosomal recessive primary microcephaly caused by mutation in CEP152",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "microcephaly 9, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "MCPH9",
            "description": ""
        },
        {
            "id": "MIM:614852",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614852",
            "name": "Microcephaly 9, primary, autosomal recessive",
            "description": "Microcephaly 9, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070292"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070292",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070292",
            "categories": []
        },
        {
            "id": "MONDO:0013923",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "categories": []
        },
        {
            "id": "MIM:614852",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614852",
            "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": "0070292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070292"
                }
            ]
        },
        {
            "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": "614852",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614852"
                },
                {
                    "id": "0070292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070292"
                }
            ]
        },
        {
            "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": "0070292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070292"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070292"
}