{
    "disease_id": "DOID:14705",
    "recommended_name": {
        "id": "DOID:14705",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14705",
        "name": "Pfeiffer syndrome",
        "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."
    },
    "synonyms": [
        {
            "id": "DOID:14705",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14705",
            "name": "acrocephalosyndactylia type V",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "Pfeiffer syndrome",
            "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations."
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "craniofacial-skeletal-Dermatologic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "ACS 5",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "acrocephalosyndactylia type V",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "Pfeiffer type acrocephalosyndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "type V Acrocephalosyndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "ACS5",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "acrocephalosyndactyly type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "Pfeiffer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "acrocephalosyndactyly type V",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "acrocephalosyndactyly, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007043",
            "name": "Noack syndrome",
            "description": ""
        },
        {
            "id": "MIM:101600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/101600",
            "name": "Pfeiffer syndrome",
            "description": "Pfeiffer syndrome"
        }
    ]
}