{
    "disease_id": "DOID:0081072",
    "recommended_name": {
        "id": "DOID:0081072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081072",
        "name": "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome",
        "description": "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills."
    },
    "synonyms": [
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "Cerebro-facio-thoracic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "Cerebrofaciothoracic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "Pascual-Castroviejo syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "TMCO1 defect syndrome",
            "description": ""
        },
        {
            "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": "DOID:0081124",
            "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081125",
            "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081072",
        "DOID:0081125",
        "DOID:0081124"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081072",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "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": "0081072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081072"
                }
            ]
        },
        {
            "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": "0081072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081072"
                }
            ]
        },
        {
            "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": "0081072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081072"
                }
            ]
        },
        {
            "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": "0081072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081072"
                }
            ]
        },
        {
            "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": "0081072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081072"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081072"
}