{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013244", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013244", 
            "name": "BDE2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013244", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013244", 
            "name": "PTHLH brachydactyly type E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013244", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013244", 
            "name": "brachydactyly, type E2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013244", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013244", 
            "name": "brachydactyly type E caused by mutation in PTHLH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013244", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013244", 
            "name": "brachydactyly, type E2; BDE2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110976", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110976", 
            "name": "BDE2"
        }, 
        {
            "url": "https://www.omim.org/entry/613382", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:613382", 
            "name": "Brachydactyly E2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110976", 
        "description": "A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110976", 
        "name": "brachydactyly type E2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613382", 
            "id": "613382", 
            "database": "MIM"
        }
    ]
}