{
    "disease_id": "DOID:0111594", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "distal arthrogryposis type 5 without ophthalmoparesis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "arthrogryposis, distal, type 5D; DA5D"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "ECEL1 distal arthrogryposis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "distal arthrogryposis type 5 without ophthalmoplegia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "arthrogryposis, distal, type 5D"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "distal arthrogryposis caused by mutation in ECEL1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014028", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014028", 
            "name": "DA5D"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111594", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111594", 
            "name": "distal arthrogryposis type 5 without ophthalmoparesis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111594", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111594", 
            "name": "DA5D"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111594", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111594", 
            "name": "distal arthrogryposis type 5 without ophthalmoplegia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111594", 
        "description": "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111594", 
        "name": "distal arthrogryposis type 5D"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111594#disease-associations", 
            "id": "0111594", 
            "database": "Alliance of Genome Resources"
        }
    ]
}