{
    "disease_id": "DOID:0111608", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis, distal, type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "DA5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "distal arthrogryposis with ophthalmoplegia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis with oculomotor limitation and electroretinal abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "distal arthrogryposis type IIB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "Arthogryposis with oculomotor limitation and electroretinal abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis, distal, type 2B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis ophthalmoplegia retinopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "oculomelic amyoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007158", 
            "name": "arthrogryposis, distal, type 5; DA5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111608", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111608", 
            "name": "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111608", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111608", 
            "name": "DA5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111608", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111608", 
            "name": "DAIIB"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111608", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111608", 
            "name": "distal arthrogryposis type IIB"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111608", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111608", 
            "name": "distal arthrogryposis with ophthalmoplegia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111608", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111608", 
            "name": "oculomelic amyoplasia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111608", 
        "description": "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111608", 
        "name": "distal arthrogryposis type 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111608#disease-associations", 
            "id": "0111608", 
            "database": "Alliance of Genome Resources"
        }
    ]
}