{
    "disease_id": "DOID:0111581",
    "recommended_name": {
        "id": "DOID:0111581",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111581",
        "name": "C syndrome",
        "description": "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111581",
            "name": "OTCS",
            "description": ""
        },
        {
            "id": "DOID:0111581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111581",
            "name": "Opitz C trigonocephaly",
            "description": ""
        },
        {
            "id": "DOID:0111581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111581",
            "name": "Opitz trigonocephaly C syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111581",
            "name": "Opitz trigonocephaly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111581",
            "name": "trigonocephaly C syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "C syndrome",
            "description": "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability."
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "C syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "OTCS",
            "description": ""
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "Opitz C trigonocephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "Opitz trigonocephaly C syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "Opitz trigonocephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008893",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "name": "trigonocephaly C syndrome",
            "description": ""
        },
        {
            "id": "MIM:211750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211750",
            "name": "C syndrome",
            "description": "C syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111581"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111581",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111581",
            "categories": []
        },
        {
            "id": "MONDO:0008893",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008893",
            "categories": []
        },
        {
            "id": "MIM:211750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3U0X8-1",
            "uniprot_ac": "Q3U0X8",
            "uniprot_id": "TACT_MOUSE",
            "refseq_ac": "NP_115854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface protein tactile",
                    "type": "recommended"
                },
                {
                    "name": "Cell surface antigen CD96",
                    "type": "synonym"
                },
                {
                    "name": "T cell activation, increased late expression",
                    "type": "synonym"
                },
                {
                    "name": "T cell-activated increased late expression protein",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface protein tactile precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface protein tactile",
                    "type": "synonym"
                },
                {
                    "name": "cell surface antigen CD96",
                    "type": "synonym"
                },
                {
                    "name": "t cell-activated increased late expression protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd96",
                    "type": "recommended"
                },
                {
                    "name": "1700109I12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cd96",
                    "type": "synonym"
                },
                {
                    "name": "Tactile",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U0X8-1",
            "evidence": [
                {
                    "id": "0111581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40200-1",
            "uniprot_ac": "P40200",
            "uniprot_id": "TACT_HUMAN",
            "refseq_ac": "NP_005807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface protein tactile",
                    "type": "recommended"
                },
                {
                    "name": "Cell surface antigen CD96",
                    "type": "synonym"
                },
                {
                    "name": "T cell activation, increased late expression",
                    "type": "synonym"
                },
                {
                    "name": "T cell-activated increased late expression protein",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface protein tactile isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface protein tactile",
                    "type": "synonym"
                },
                {
                    "name": "cell surface antigen CD96",
                    "type": "synonym"
                },
                {
                    "name": "t cell-activated increased late expression protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD96",
                    "type": "recommended"
                },
                {
                    "name": "CD96",
                    "type": "synonym"
                },
                {
                    "name": "TACTILE",
                    "type": "synonym"
                }
            ],
            "record_id": "P40200-1",
            "evidence": [
                {
                    "id": "211750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211750"
                },
                {
                    "id": "0111581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK49-1",
            "uniprot_ac": "Q5BK49",
            "uniprot_id": "TACT_RAT",
            "refseq_ac": "NP_001020203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface protein tactile",
                    "type": "recommended"
                },
                {
                    "name": "CD96 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cell surface antigen CD96",
                    "type": "synonym"
                },
                {
                    "name": "T cell-activated increased late expression protein",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface protein tactile precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface protein tactile",
                    "type": "synonym"
                },
                {
                    "name": "cell surface antigen CD96",
                    "type": "synonym"
                },
                {
                    "name": "t cell-activated increased late expression protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd96",
                    "type": "recommended"
                },
                {
                    "name": "Cd96",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK49-1",
            "evidence": [
                {
                    "id": "0111581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111581"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111581"
}