{
    "disease_id": "DOID:0070278",
    "recommended_name": {
        "id": "DOID:0070278",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070278",
        "name": "primary autosomal recessive microcephaly 7",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33."
    },
    "synonyms": [
        {
            "id": "DOID:0070278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070278",
            "name": "MCPH7",
            "description": ""
        },
        {
            "id": "MONDO:0012989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012989",
            "name": "microcephaly 7, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene."
        },
        {
            "id": "MONDO:0012989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012989",
            "name": "STIL autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012989",
            "name": "autosomal recessive primary microcephaly caused by mutation in STIL",
            "description": ""
        },
        {
            "id": "MONDO:0012989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012989",
            "name": "microcephaly 7, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012989",
            "name": "MCPH7",
            "description": ""
        },
        {
            "id": "MIM:612703",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612703",
            "name": "Microcephaly 7, primary, autosomal recessive",
            "description": "Microcephaly 7, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070278"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070278",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070278",
            "categories": []
        },
        {
            "id": "MONDO:0012989",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012989",
            "categories": []
        },
        {
            "id": "MIM:612703",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612703",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JGS1-1",
            "uniprot_ac": "Q8JGS1",
            "uniprot_id": "STIL_DANRE",
            "refseq_ac": "NP_775351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCL-interrupting locus protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "SCL-interrupting locus protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAL1 (SCL) interrupting locus like",
                    "type": "synonym"
                },
                {
                    "name": "cassiopeia",
                    "type": "synonym"
                },
                {
                    "name": "scl/tal1 interrupting locus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stil",
                    "type": "recommended"
                },
                {
                    "name": "chunp6907",
                    "type": "synonym"
                },
                {
                    "name": "csp",
                    "type": "synonym"
                },
                {
                    "name": "nbb",
                    "type": "synonym"
                },
                {
                    "name": "sill",
                    "type": "synonym"
                },
                {
                    "name": "stil",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110502",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JGS1-1",
            "evidence": [
                {
                    "id": "0070278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60988-1",
            "uniprot_ac": "Q60988",
            "uniprot_id": "STIL_MOUSE",
            "refseq_ac": "NP_033211",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCL-interrupting locus protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "SCL-interrupting locus protein homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SCL-interrupting locus protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Tal1 interrupting locus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stil",
                    "type": "recommended"
                },
                {
                    "name": "Sil",
                    "type": "synonym"
                },
                {
                    "name": "Stil",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60988-1",
            "evidence": [
                {
                    "id": "0070278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15468-1",
            "uniprot_ac": "Q15468",
            "uniprot_id": "STIL_HUMAN",
            "refseq_ac": "NP_001269867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCL-interrupting locus protein",
                    "type": "recommended"
                },
                {
                    "name": "SCL-interrupting locus protein isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "SCL-interrupting locus protein",
                    "type": "synonym"
                },
                {
                    "name": "SCL/TAL1 interrupting locus",
                    "type": "synonym"
                },
                {
                    "name": "TAL-1-interrupting locus protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STIL",
                    "type": "recommended"
                },
                {
                    "name": "MCPH7",
                    "type": "synonym"
                },
                {
                    "name": "SIL",
                    "type": "synonym"
                },
                {
                    "name": "STIL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15468-1",
            "evidence": [
                {
                    "id": "612703",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612703"
                },
                {
                    "id": "0070278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KB96-1",
            "uniprot_ac": "A0A0G2KB96",
            "uniprot_id": "A0A0G2KB96_RAT",
            "refseq_ac": "XP_038967110",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCL-interrupting locus protein isoform X3",
                    "type": "synonym"
                },
                {
                    "name": "STIL, centriolar assembly protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stil",
                    "type": "recommended"
                },
                {
                    "name": "Sil",
                    "type": "synonym"
                },
                {
                    "name": "Stil",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KB96-1",
            "evidence": [
                {
                    "id": "0070278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070278"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070278"
}