{
    "disease_id": "DOID:0060374",
    "recommended_name": {
        "id": "DOID:0060374",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060374",
        "name": "orofaciodigital syndrome IV",
        "description": "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060374",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060374",
            "name": "Baraitser-Burn syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060374",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060374",
            "name": "OFD4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "orofaciodigital syndrome IV",
            "description": "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet."
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "Baraitser-Burn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "Mohr-Majewski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "OFD4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "oral-facial-digital syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "orofaciodigital syndrome IV",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "orofaciodigital syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "orofaciodigital syndrome type IV",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "OFD syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "oral facial digital syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "oral facial digital syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "orofaciodigital syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0009794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "name": "orofaciodigital syndrome with tibial dysplasia",
            "description": ""
        },
        {
            "id": "MIM:258860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258860",
            "name": "Orofaciodigital syndrome 4",
            "description": "Orofaciodigital syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060374"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060374",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060374",
            "categories": []
        },
        {
            "id": "MONDO:0009794",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009794",
            "categories": []
        },
        {
            "id": "MIM:258860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/258860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R2Q6-1",
            "uniprot_ac": "Q8R2Q6",
            "uniprot_id": "TECT3_MOUSE",
            "refseq_ac": "NP_080536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-3",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tctn3",
                    "type": "recommended"
                },
                {
                    "name": "4930521E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tctn3",
                    "type": "synonym"
                },
                {
                    "name": "Tect3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2Q6-1",
            "evidence": [
                {
                    "id": "0060374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060374"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NUS6-1",
            "uniprot_ac": "Q6NUS6",
            "uniprot_id": "TECT3_HUMAN",
            "refseq_ac": "NP_001137445",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-3",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-3 isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCTN3",
                    "type": "recommended"
                },
                {
                    "name": "C10orf61",
                    "type": "synonym"
                },
                {
                    "name": "JBTS18",
                    "type": "synonym"
                },
                {
                    "name": "OFD4",
                    "type": "synonym"
                },
                {
                    "name": "PRO4324",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0041",
                    "type": "synonym"
                },
                {
                    "name": "TCTN3",
                    "type": "synonym"
                },
                {
                    "name": "TECT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NUS6-1",
            "evidence": [
                {
                    "id": "258860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/258860"
                },
                {
                    "id": "0060374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060374"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JTR3-1",
            "uniprot_ac": "A0A0G2JTR3",
            "uniprot_id": "A0A0G2JTR3_RAT",
            "refseq_ac": "NP_001388769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic family member 3",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-3-like",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tctn3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305166",
                    "type": "synonym"
                },
                {
                    "name": "Tctn3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JTR3-1",
            "evidence": [
                {
                    "id": "0060374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060374"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMH0-1",
            "uniprot_ac": "Q9VMH0",
            "uniprot_id": "TECT_DROME",
            "refseq_ac": "NP_608998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic",
                    "type": "recommended"
                },
                {
                    "name": "CG42731-PA",
                    "type": "synonym"
                },
                {
                    "name": "dTectonic",
                    "type": "synonym"
                },
                {
                    "name": "tctn-PA",
                    "type": "synonym"
                },
                {
                    "name": "tectonic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tctn",
                    "type": "recommended"
                },
                {
                    "name": "CG42731",
                    "type": "synonym"
                },
                {
                    "name": "CG9227",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42731",
                    "type": "synonym"
                },
                {
                    "name": "Tectonic",
                    "type": "synonym"
                },
                {
                    "name": "tctn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMH0-1",
            "evidence": [
                {
                    "id": "0060374",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060374"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060374"
}