{
    "disease_id": "DOID:0111621",
    "recommended_name": {
        "id": "DOID:0111621",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111621",
        "name": "Temtamy syndrome",
        "description": "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation",
            "description": ""
        },
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "Temtamy-Shalash syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "name": "dysmorphism, corpus callosum agenesis and colobomas",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "temtamy syndrome",
            "description": "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities."
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "Temtamy-Shalash syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "temtamy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "Dysmorphism, corpus callosum agenesis and colobomas",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "TEMTYS",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation",
            "description": ""
        },
        {
            "id": "MONDO:0009033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "name": "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:218340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218340",
            "name": "Temtamy syndrome",
            "description": "Temtamy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111621"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111621",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111621",
            "categories": []
        },
        {
            "id": "MONDO:0009033",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009033",
            "categories": []
        },
        {
            "id": "MIM:218340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/218340",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6TH01-1",
            "uniprot_ac": "Q6TH01",
            "uniprot_id": "C10_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C10",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-29f10.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86838",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TH01-1",
            "evidence": [
                {
                    "id": "0111621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35127-1",
            "uniprot_ac": "O35127",
            "uniprot_id": "C10_MOUSE",
            "refseq_ac": "NP_038563",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C10",
                    "type": "recommended"
                },
                {
                    "name": "B-cell receptor-associated protein 37",
                    "type": "synonym"
                },
                {
                    "name": "protein C10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grcc10",
                    "type": "recommended"
                },
                {
                    "name": "2310033H05Rik",
                    "type": "synonym"
                },
                {
                    "name": "C10",
                    "type": "synonym"
                },
                {
                    "name": "Grcc10",
                    "type": "synonym"
                }
            ],
            "record_id": "O35127-1",
            "evidence": [
                {
                    "id": "0111621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99622-1",
            "uniprot_ac": "Q99622",
            "uniprot_id": "C10_HUMAN",
            "refseq_ac": "NP_001288763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C10",
                    "type": "recommended"
                },
                {
                    "name": "gene rich cluster C10",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of mouse gene rich cluster, C10",
                    "type": "synonym"
                },
                {
                    "name": "protein C10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein C10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C12orf57",
                    "type": "recommended"
                },
                {
                    "name": "C10",
                    "type": "synonym"
                },
                {
                    "name": "C12orf57",
                    "type": "synonym"
                },
                {
                    "name": "GRCC10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99622-1",
            "evidence": [
                {
                    "id": "218340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/218340"
                },
                {
                    "id": "0111621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYT6-1",
            "uniprot_ac": "A8DYT6",
            "uniprot_id": "A8DYT6_DROME",
            "refseq_ac": "NP_001097058",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C10",
                    "type": "recommended"
                },
                {
                    "name": "CG15387-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15387",
                    "type": "recommended"
                },
                {
                    "name": "CG15387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15387",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYT6-1",
            "evidence": [
                {
                    "id": "0111621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111621"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111621"
}