{
    "disease_id": "DOID:0070285",
    "recommended_name": {
        "id": "DOID:0070285",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070285",
        "name": "primary autosomal recessive microcephaly 1",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23."
    },
    "synonyms": [
        {
            "id": "DOID:0070285",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070285",
            "name": "MCPH1",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "microcephaly 1, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene."
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "MCPH1 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "autosomal recessive primary microcephaly caused by mutation in MCPH1",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "microcephaly 1, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "MCPH1",
            "description": ""
        },
        {
            "id": "MONDO:0009617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "name": "premature chromosome condensation with microcephaly and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:251200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251200",
            "name": "Microcephaly 1, primary, autosomal recessive",
            "description": "Microcephaly 1, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070285"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070285",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070285",
            "categories": []
        },
        {
            "id": "MONDO:0009617",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009617",
            "categories": []
        },
        {
            "id": "MIM:251200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B3G0-1",
            "uniprot_ac": "A0A8M2B3G0",
            "uniprot_id": "A0A8M2B3G0_DANRE",
            "refseq_ac": "NP_001417772",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microcephalin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Microcephalin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "microcephalin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mcph1",
                    "type": "recommended"
                },
                {
                    "name": "mcph1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136403",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B3G0-1",
            "evidence": [
                {
                    "id": "0070285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TT79-1",
            "uniprot_ac": "Q7TT79",
            "uniprot_id": "MCPH1_MOUSE",
            "refseq_ac": "NP_775281",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microcephalin",
                    "type": "recommended"
                },
                {
                    "name": "microcephalin isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "microcephalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcph1",
                    "type": "recommended"
                },
                {
                    "name": "5430437K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "BRIT1",
                    "type": "synonym"
                },
                {
                    "name": "D030046N04Rik",
                    "type": "synonym"
                },
                {
                    "name": "MCT",
                    "type": "synonym"
                },
                {
                    "name": "Mcph1",
                    "type": "synonym"
                },
                {
                    "name": "Tg(HLA-A2.1)1Enge",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TT79-1",
            "evidence": [
                {
                    "id": "0070285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEM0-1",
            "uniprot_ac": "Q8NEM0",
            "uniprot_id": "MCPH1_HUMAN",
            "refseq_ac": "NP_001166046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microcephalin",
                    "type": "recommended"
                },
                {
                    "name": "BRCT-repeat inhibitor of TERT expression 1",
                    "type": "synonym"
                },
                {
                    "name": "microcephalin isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCPH1",
                    "type": "recommended"
                },
                {
                    "name": "BRIT1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH1",
                    "type": "synonym"
                },
                {
                    "name": "MCT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEM0-1",
            "evidence": [
                {
                    "id": "251200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251200"
                },
                {
                    "id": "0070285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJM7-1",
            "uniprot_ac": "D3ZJM7",
            "uniprot_id": "D3ZJM7_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": "Microcephalin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcph1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZJM7-1",
            "evidence": [
                {
                    "id": "0070285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JH39-1",
            "uniprot_ac": "E1JH39",
            "uniprot_id": "E1JH39_DROME",
            "refseq_ac": "NP_001163123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42572-PD",
                    "type": "synonym"
                },
                {
                    "name": "MCPH1-PD",
                    "type": "synonym"
                },
                {
                    "name": "Microcephalin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "absent without leave",
                    "type": "synonym"
                },
                {
                    "name": "microcephalin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "microcephalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCPH1",
                    "type": "recommended"
                },
                {
                    "name": "CG13184",
                    "type": "synonym"
                },
                {
                    "name": "CG30038",
                    "type": "synonym"
                },
                {
                    "name": "CG42572",
                    "type": "synonym"
                },
                {
                    "name": "CG8981",
                    "type": "synonym"
                },
                {
                    "name": "Dmcph1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42572",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42572",
                    "type": "synonym"
                },
                {
                    "name": "MCPH1",
                    "type": "synonym"
                },
                {
                    "name": "awol",
                    "type": "synonym"
                },
                {
                    "name": "dMCPH1",
                    "type": "synonym"
                },
                {
                    "name": "mcph1",
                    "type": "synonym"
                },
                {
                    "name": "p91",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JH39-1",
            "evidence": [
                {
                    "id": "0070285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070285"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070285"
}