{
    "disease_id": "DOID:0060703",
    "recommended_name": {
        "id": "DOID:0060703",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060703",
        "name": "Muenke Syndrome",
        "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060703",
            "name": "FGFR3-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "Muenke syndrome",
            "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay."
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "FGFR3-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "MNKES",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "Muenke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis - dysmorphism - brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis-dysmorphism-brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "glass-chapman-hockley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "syndrome of coronal craniosynostosis",
            "description": ""
        },
        {
            "id": "MIM:602849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602849",
            "name": "Muenke syndrome",
            "description": "Muenke syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060703"
    ],
    "unlinked_id_list": []
}