{
    "disease_id": "DOID:0061009",
    "recommended_name": {
        "id": "DOID:0061009",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061009",
        "name": "craniosynostosis 2",
        "description": "A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0061009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061009",
            "name": "CRS2",
            "description": ""
        },
        {
            "id": "DOID:0061009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061009",
            "name": "Craniosynostosis Boston type",
            "description": ""
        },
        {
            "id": "DOID:0061009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061009",
            "name": "Craniosynostosis Warman type",
            "description": ""
        },
        {
            "id": "DOID:0061009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061009",
            "name": "Warman-Mulliken-Hayward syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "craniosynostosis 2",
            "description": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal."
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "CRS2",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "MSX2-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "Warman-Mulliken-Hayward syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "craniosynostosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "craniosynostosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "craniosynostosis, Warman type",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "Warman Mulliken Hayward syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "name": "craniosynostosis Warman type",
            "description": ""
        },
        {
            "id": "MIM:604757",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604757",
            "name": "Craniosynostosis 2",
            "description": "Craniosynostosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061009"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061009",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061009",
            "categories": []
        },
        {
            "id": "MONDO:0011481",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011481",
            "categories": []
        },
        {
            "id": "MIM:604757",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604757",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q01704-1",
            "uniprot_ac": "Q01704",
            "uniprot_id": "MSXD_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSH-D",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "msx2b",
                    "type": "recommended"
                },
                {
                    "name": "msxd",
                    "type": "recommended"
                },
                {
                    "name": "msh-D",
                    "type": "synonym"
                },
                {
                    "name": "msh-d",
                    "type": "synonym"
                },
                {
                    "name": "mshD",
                    "type": "synonym"
                },
                {
                    "name": "msxd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01704-1",
            "evidence": [
                {
                    "id": "0061009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03357-1",
            "uniprot_ac": "Q03357",
            "uniprot_id": "MSXA_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSH-A",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "msxa",
                    "type": "recommended"
                },
                {
                    "name": "msh-a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03357-1",
            "evidence": [
                {
                    "id": "0061009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03358-1",
            "uniprot_ac": "Q03358",
            "uniprot_id": "MSX2_MOUSE",
            "refseq_ac": "NP_038629",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSX-2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-8-1",
                    "type": "synonym"
                },
                {
                    "name": "homeo box, msh-like 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-8-1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MSX-2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox, msh-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msx2",
                    "type": "recommended"
                },
                {
                    "name": "Hox-8.1",
                    "type": "synonym"
                },
                {
                    "name": "Hox-8",
                    "type": "synonym"
                },
                {
                    "name": "Hox8.1",
                    "type": "synonym"
                },
                {
                    "name": "Hox8",
                    "type": "synonym"
                },
                {
                    "name": "Msx-2",
                    "type": "synonym"
                },
                {
                    "name": "Msx2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03358-1",
            "evidence": [
                {
                    "id": "0061009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35548-1",
            "uniprot_ac": "P35548",
            "uniprot_id": "MSX2_HUMAN",
            "refseq_ac": "NP_002440",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSX-2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-8",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-8",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MSX-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MSX-2",
                    "type": "synonym"
                },
                {
                    "name": "msh homeo box 2",
                    "type": "synonym"
                },
                {
                    "name": "msh homeobox homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSX2",
                    "type": "recommended"
                },
                {
                    "name": "CRS2",
                    "type": "synonym"
                },
                {
                    "name": "FPP",
                    "type": "synonym"
                },
                {
                    "name": "HOX8",
                    "type": "synonym"
                },
                {
                    "name": "MSH",
                    "type": "synonym"
                },
                {
                    "name": "MSX2",
                    "type": "synonym"
                },
                {
                    "name": "PFM1",
                    "type": "synonym"
                },
                {
                    "name": "PFM",
                    "type": "synonym"
                }
            ],
            "record_id": "P35548-1",
            "evidence": [
                {
                    "id": "604757",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604757"
                },
                {
                    "id": "0061009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52953-1",
            "uniprot_ac": "P52953",
            "uniprot_id": "MSX2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSX-2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-8-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msx2",
                    "type": "recommended"
                },
                {
                    "name": "Msx-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P52953-1",
            "evidence": [
                {
                    "id": "0061009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03372-1",
            "uniprot_ac": "Q03372",
            "uniprot_id": "HMSH_DROME",
            "refseq_ac": "NP_477324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle segmentation homeobox",
                    "type": "recommended"
                },
                {
                    "name": "CG1897-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dr-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dr-distal",
                    "type": "synonym"
                },
                {
                    "name": "Protein drop",
                    "type": "synonym"
                },
                {
                    "name": "Protein msh",
                    "type": "synonym"
                },
                {
                    "name": "drop",
                    "type": "synonym"
                },
                {
                    "name": "lottchen",
                    "type": "synonym"
                },
                {
                    "name": "muscle segment homeobox",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific homeodomain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dr",
                    "type": "recommended"
                },
                {
                    "name": "153515_at",
                    "type": "synonym"
                },
                {
                    "name": "99B",
                    "type": "synonym"
                },
                {
                    "name": "CG1897",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1897",
                    "type": "synonym"
                },
                {
                    "name": "Dr/Msh",
                    "type": "synonym"
                },
                {
                    "name": "Dr/msh",
                    "type": "synonym"
                },
                {
                    "name": "Dr",
                    "type": "synonym"
                },
                {
                    "name": "Msh",
                    "type": "synonym"
                },
                {
                    "name": "Msx",
                    "type": "synonym"
                },
                {
                    "name": "l(3)FA30",
                    "type": "synonym"
                },
                {
                    "name": "ltt",
                    "type": "synonym"
                },
                {
                    "name": "msh-1",
                    "type": "synonym"
                },
                {
                    "name": "msh1",
                    "type": "synonym"
                },
                {
                    "name": "msh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03372-1",
            "evidence": [
                {
                    "id": "0061009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061009"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061009"
}