{
    "disease_id": "DOID:0111262",
    "recommended_name": {
        "id": "DOID:0111262",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111262",
        "name": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",
        "description": "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111262",
            "name": "postnatal progressive microcephaly, seizures, and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013351",
            "name": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",
            "description": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination."
        },
        {
            "id": "MONDO:0013351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013351",
            "name": "postnatal progressive microcephaly, seizures, and brain atrophy",
            "description": ""
        },
        {
            "id": "MIM:613668",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613668",
            "name": "Microcephaly, postnatal progressive, with seizures and brain atrophy",
            "description": "Microcephaly, postnatal progressive, with seizures and brain atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111262"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111262",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111262",
            "categories": []
        },
        {
            "id": "MONDO:0013351",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013351",
            "categories": []
        },
        {
            "id": "MIM:613668",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613668",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08BY1-1",
            "uniprot_ac": "Q08BY1",
            "uniprot_id": "MED17_DANRE",
            "refseq_ac": "NP_001071042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "CRSP complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "med17",
                    "type": "recommended"
                },
                {
                    "name": "MED17",
                    "type": "synonym"
                },
                {
                    "name": "crsp6",
                    "type": "synonym"
                },
                {
                    "name": "med17",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153983",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73307",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08BY1-1",
            "evidence": [
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCD5-1",
            "uniprot_ac": "Q8VCD5",
            "uniprot_id": "MED17_MOUSE",
            "refseq_ac": "NP_659182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "CRSP complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med17",
                    "type": "recommended"
                },
                {
                    "name": "77kDa",
                    "type": "synonym"
                },
                {
                    "name": "C330002H14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Crsp6",
                    "type": "synonym"
                },
                {
                    "name": "Med17",
                    "type": "synonym"
                },
                {
                    "name": "Trap80",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCD5-1",
            "evidence": [
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVC6-1",
            "uniprot_ac": "Q9NVC6",
            "uniprot_id": "MED17_HUMAN",
            "refseq_ac": "NP_004259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "ARC77",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 77 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CRSP complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "DRIP80",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "Trap80",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin D3 receptor-interacting protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 77 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor-interacting protein complex 80 kDa component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED17",
                    "type": "recommended"
                },
                {
                    "name": "ARC77",
                    "type": "synonym"
                },
                {
                    "name": "CRSP6",
                    "type": "synonym"
                },
                {
                    "name": "CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "DRIP77",
                    "type": "synonym"
                },
                {
                    "name": "DRIP80",
                    "type": "synonym"
                },
                {
                    "name": "MED17",
                    "type": "synonym"
                },
                {
                    "name": "SRB4",
                    "type": "synonym"
                },
                {
                    "name": "TRAP80",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVC6-1",
            "evidence": [
                {
                    "id": "613668",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613668"
                },
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32569-1",
            "uniprot_ac": "P32569",
            "uniprot_id": "MED17_YEAST",
            "refseq_ac": "NP_010939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "Srb4p",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of RNA polymerase B 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRB4",
                    "type": "recommended"
                },
                {
                    "name": "MED17",
                    "type": "synonym"
                },
                {
                    "name": "SRB4",
                    "type": "synonym"
                }
            ],
            "record_id": "P32569-1",
            "evidence": [
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ABU0-1",
            "uniprot_ac": "D4ABU0",
            "uniprot_id": "D4ABU0_RAT",
            "refseq_ac": "NP_001100271",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med17",
                    "type": "recommended"
                },
                {
                    "name": "Crsp6",
                    "type": "synonym"
                },
                {
                    "name": "MED17",
                    "type": "synonym"
                },
                {
                    "name": "Med17",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ABU0-1",
            "evidence": [
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05539-1",
            "uniprot_ac": "P05539",
            "uniprot_id": "CO2A1_RAT",
            "refseq_ac": "NP_037061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen II alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type II (Col2A1) gene, enhancer region",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type II, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col2a1",
                    "type": "recommended"
                },
                {
                    "name": "CG2A1A",
                    "type": "synonym"
                },
                {
                    "name": "COLLII",
                    "type": "synonym"
                },
                {
                    "name": "Col2a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P05539-1",
            "evidence": [
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEC1-1",
            "uniprot_ac": "Q9VEC1",
            "uniprot_id": "MED17_DROME",
            "refseq_ac": "NP_650686",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "CG7957-PA",
                    "type": "synonym"
                },
                {
                    "name": "MED17-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "dMED17",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP80",
                    "type": "synonym"
                },
                {
                    "name": "mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "mediator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED17",
                    "type": "recommended"
                },
                {
                    "name": "CG7957",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7957",
                    "type": "synonym"
                },
                {
                    "name": "MED17",
                    "type": "synonym"
                },
                {
                    "name": "Med17",
                    "type": "synonym"
                },
                {
                    "name": "TRAP80",
                    "type": "synonym"
                },
                {
                    "name": "Trap80",
                    "type": "synonym"
                },
                {
                    "name": "dMED17",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP80/SRB4",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP80",
                    "type": "synonym"
                },
                {
                    "name": "dTrap80",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2956",
                    "type": "synonym"
                },
                {
                    "name": "p70",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEC1-1",
            "evidence": [
                {
                    "id": "0111262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111262"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111262"
}