{
    "disease_id": "DOID:14705", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:14705", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14705", 
            "name": "acrocephalosyndactylia type V"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "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.", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "Pfeiffer syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "Pfeiffer type acrocephalosyndactyly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "acrocephalosyndactyly, type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "craniofacial-skeletal-Dermatologic dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "ACS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "type V Acrocephalosyndactyly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "Pfeiffer syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "Noack syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "acrocephalosyndactyly type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "acrocephalosyndactylia type V"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "ACS 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007043", 
            "name": "acrocephalosyndactyly type V"
        }, 
        {
            "url": "https://www.omim.org/entry/101600", 
            "description": "Pfeiffer syndrome", 
            "resource": "MIM", 
            "id": "MIM:101600", 
            "name": "Pfeiffer syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14705", 
        "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14705", 
        "name": "Pfeiffer syndrome"
    }
}
