{
    "disease_id": "DOID:0061011",
    "recommended_name": {
        "id": "DOID:0061011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061011",
        "name": "craniosynostosis 3",
        "description": "A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0061011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061011",
            "name": "CRS3",
            "description": ""
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "TCF12-related craniosynostosis",
            "description": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene."
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "TCF12 craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "TCF12-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "craniosynostosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "craniosynostosis caused by mutation in TCF12",
            "description": ""
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "craniosynostosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "name": "CRS3",
            "description": ""
        },
        {
            "id": "MIM:615314",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615314",
            "name": "Craniosynostosis 3",
            "description": "Craniosynostosis 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061011",
            "categories": []
        },
        {
            "id": "MONDO:0014128",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014128",
            "categories": []
        },
        {
            "id": "MIM:615314",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615314",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IBL7-1",
            "uniprot_ac": "A0A0R4IBL7",
            "uniprot_id": "HTF4_DANRE",
            "refseq_ac": "NP_999981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor 12",
                    "type": "recommended"
                },
                {
                    "name": "TCF-12",
                    "type": "synonym"
                },
                {
                    "name": "TF12",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tcf12",
                    "type": "recommended"
                },
                {
                    "name": "SO:0001217",
                    "type": "synonym"
                },
                {
                    "name": "TCF-12",
                    "type": "synonym"
                },
                {
                    "name": "tcf12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb74g05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc43e06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110341",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85956",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IBL7-1",
            "evidence": [
                {
                    "id": "0061011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61286-1",
            "uniprot_ac": "Q61286",
            "uniprot_id": "HTF4_MOUSE",
            "refseq_ac": "NP_001240794",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor 12",
                    "type": "recommended"
                },
                {
                    "name": "Class A helix-loop-helix transcription factor ME1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein HTF4",
                    "type": "synonym"
                },
                {
                    "name": "E-box-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TCF-12",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor HTF-4",
                    "type": "synonym"
                },
                {
                    "name": "class A helix-loop-helix transcription factor ME1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 12 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HTF-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcf12",
                    "type": "recommended"
                },
                {
                    "name": "A130037E08Rik",
                    "type": "synonym"
                },
                {
                    "name": "ALF1",
                    "type": "synonym"
                },
                {
                    "name": "Alf1",
                    "type": "synonym"
                },
                {
                    "name": "HEBAlt",
                    "type": "synonym"
                },
                {
                    "name": "HEB",
                    "type": "synonym"
                },
                {
                    "name": "HTF-4",
                    "type": "synonym"
                },
                {
                    "name": "HTF4",
                    "type": "synonym"
                },
                {
                    "name": "ME1",
                    "type": "synonym"
                },
                {
                    "name": "Meb",
                    "type": "synonym"
                },
                {
                    "name": "REB",
                    "type": "synonym"
                },
                {
                    "name": "Tcf12",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61286-1",
            "evidence": [
                {
                    "id": "0061011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99081-1",
            "uniprot_ac": "Q99081",
            "uniprot_id": "HTF4_HUMAN",
            "refseq_ac": "NP_001293149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor 12",
                    "type": "recommended"
                },
                {
                    "name": "Class B basic helix-loop-helix protein 20",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein HTF4",
                    "type": "synonym"
                },
                {
                    "name": "E-box-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TCF-12",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor HTF-4",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb20",
                    "type": "synonym"
                },
                {
                    "name": "class B basic helix-loop-helix protein 20",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 12 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HTF-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCF12",
                    "type": "recommended"
                },
                {
                    "name": "BHLHB20",
                    "type": "synonym"
                },
                {
                    "name": "CRS3",
                    "type": "synonym"
                },
                {
                    "name": "HEB",
                    "type": "synonym"
                },
                {
                    "name": "HH26",
                    "type": "synonym"
                },
                {
                    "name": "HTF4",
                    "type": "synonym"
                },
                {
                    "name": "HsT17266",
                    "type": "synonym"
                },
                {
                    "name": "TCF-12",
                    "type": "synonym"
                },
                {
                    "name": "TCF12",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb20",
                    "type": "synonym"
                },
                {
                    "name": "p64",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99081-1",
            "evidence": [
                {
                    "id": "615314",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615314"
                },
                {
                    "id": "0061011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51514-1",
            "uniprot_ac": "P51514",
            "uniprot_id": "HTF4_RAT",
            "refseq_ac": "NP_037308",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor 12",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein HTF4",
                    "type": "synonym"
                },
                {
                    "name": "E-box-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SCBP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Salivary-specific cAMP response element-binding protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "TCF-12",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor HTF-4",
                    "type": "synonym"
                },
                {
                    "name": "salivary-specific cAMP response element-binding protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 12",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HTF-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcf12",
                    "type": "recommended"
                },
                {
                    "name": "SCBP alpha",
                    "type": "synonym"
                },
                {
                    "name": "SCBPA",
                    "type": "synonym"
                },
                {
                    "name": "Tcf12",
                    "type": "synonym"
                }
            ],
            "record_id": "P51514-1",
            "evidence": [
                {
                    "id": "0061011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11420-1",
            "uniprot_ac": "P11420",
            "uniprot_id": "DA_DROME",
            "refseq_ac": "NP_001260340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein daughterless",
                    "type": "recommended"
                },
                {
                    "name": "CG5102-PB",
                    "type": "synonym"
                },
                {
                    "name": "da-PB",
                    "type": "synonym"
                },
                {
                    "name": "daughter-less",
                    "type": "synonym"
                },
                {
                    "name": "daughterless, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "daughterless",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k08611",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "da",
                    "type": "recommended"
                },
                {
                    "name": "5102",
                    "type": "synonym"
                },
                {
                    "name": "CG5102",
                    "type": "synonym"
                },
                {
                    "name": "DA",
                    "type": "synonym"
                },
                {
                    "name": "Da",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5102",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5102",
                    "type": "synonym"
                },
                {
                    "name": "SC_DA",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb22",
                    "type": "synonym"
                },
                {
                    "name": "da",
                    "type": "synonym"
                },
                {
                    "name": "l(2)31Ea",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08611",
                    "type": "synonym"
                }
            ],
            "record_id": "P11420-1",
            "evidence": [
                {
                    "id": "0061011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061011"
}