{
    "disease_id": "DOID:0081124",
    "recommended_name": {
        "id": "DOID:0081124",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081124",
        "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1",
        "description": "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1",
            "description": "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene."
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "CFSMR1",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "cerebrofaciothoracic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "pascual-Castroviejo syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "CFSMR",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "cerebro facio thoracic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "pascual-Castroviejo syndrome",
            "description": ""
        },
        {
            "id": "MIM:213980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213980",
            "name": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1",
            "description": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081124"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081124",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081124",
            "categories": []
        },
        {
            "id": "MONDO:0800436",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "categories": []
        },
        {
            "id": "MIM:213980",
            "database": "MIM",
            "url": "https://www.omim.org/entry/213980",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DGW9-1",
            "uniprot_ac": "Q6DGW9",
            "uniprot_id": "TMCO1_DANRE",
            "refseq_ac": "NP_001002575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium load-activated calcium channel",
                    "type": "recommended"
                },
                {
                    "name": "CLAC channel",
                    "type": "synonym"
                },
                {
                    "name": "GEL complex subunit TMCO1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium load-activated calcium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmco1",
                    "type": "recommended"
                },
                {
                    "name": "sb:cb729",
                    "type": "synonym"
                },
                {
                    "name": "tmco1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110322",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92740",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGW9-1",
            "evidence": [
                {
                    "id": "0081124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921L3-1",
            "uniprot_ac": "Q921L3",
            "uniprot_id": "TMCO1_MOUSE",
            "refseq_ac": "NP_001034572",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium load-activated calcium channel",
                    "type": "recommended"
                },
                {
                    "name": "CLAC channel",
                    "type": "synonym"
                },
                {
                    "name": "GEL complex subunit TMCO1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium load-activated calcium channel",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmco1",
                    "type": "recommended"
                },
                {
                    "name": "1190006A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930403O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "ESTM39",
                    "type": "synonym"
                },
                {
                    "name": "Tmco1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921L3-1",
            "evidence": [
                {
                    "id": "0081124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UM00-3",
            "uniprot_ac": "Q9UM00",
            "uniprot_id": "TMCO1_HUMAN",
            "refseq_ac": "NP_061899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium load-activated calcium channel",
                    "type": "recommended"
                },
                {
                    "name": "CLAC channel",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+) load-activated Ca(2+) channel",
                    "type": "synonym"
                },
                {
                    "name": "GEL complex subunit TMCO1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane and coiled-coil domains protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Xenogeneic cross-immune protein PCIA3",
                    "type": "synonym"
                },
                {
                    "name": "calcium load-activated calcium channel isoform a",
                    "type": "synonym"
                },
                {
                    "name": "calcium load-activated calcium channel",
                    "type": "synonym"
                },
                {
                    "name": "putative membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and coiled-coil domains 4",
                    "type": "synonym"
                },
                {
                    "name": "xenogeneic cross-immune protein PCIA3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMCO1",
                    "type": "recommended"
                },
                {
                    "name": "CFSMR1",
                    "type": "synonym"
                },
                {
                    "name": "HP10122",
                    "type": "synonym"
                },
                {
                    "name": "PCIA3",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-10",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-136",
                    "type": "synonym"
                },
                {
                    "name": "PRO177",
                    "type": "synonym"
                },
                {
                    "name": "TMCC4",
                    "type": "synonym"
                },
                {
                    "name": "TMCO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UM00-3",
            "evidence": [
                {
                    "id": "213980",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/213980"
                },
                {
                    "id": "0081124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0H4-1",
            "uniprot_ac": "Q5I0H4",
            "uniprot_id": "TMCO1_RAT",
            "refseq_ac": "NP_001009631",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium load-activated calcium channel",
                    "type": "recommended"
                },
                {
                    "name": "CLAC channel",
                    "type": "synonym"
                },
                {
                    "name": "GEL complex subunit TMCO1",
                    "type": "synonym"
                },
                {
                    "name": "Meg-2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium load-activated calcium channel",
                    "type": "synonym"
                },
                {
                    "name": "meg-2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "putative membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and coiled-coil domains protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmco1",
                    "type": "recommended"
                },
                {
                    "name": "Tmco1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0H4-1",
            "evidence": [
                {
                    "id": "0081124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ11-1",
            "uniprot_ac": "Q9VJ11",
            "uniprot_id": "Q9VJ11_DROME",
            "refseq_ac": "NP_609936",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium load-activated calcium channel",
                    "type": "recommended"
                },
                {
                    "name": "CG10470-PA",
                    "type": "synonym"
                },
                {
                    "name": "CLAC channel",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit 37B2",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-37B-2",
                    "type": "recommended"
                },
                {
                    "name": "B2",
                    "type": "synonym"
                },
                {
                    "name": "CG10470",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10470",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10470",
                    "type": "synonym"
                },
                {
                    "name": "TU37B2",
                    "type": "synonym"
                },
                {
                    "name": "TUB2",
                    "type": "synonym"
                },
                {
                    "name": "TuB2",
                    "type": "synonym"
                },
                {
                    "name": "anon-37B-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ11-1",
            "evidence": [
                {
                    "id": "0081124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081124"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081124"
}