{
    "disease_id": "DOID:0111608",
    "recommended_name": {
        "id": "DOID:0111608",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111608",
        "name": "distal arthrogryposis type 5",
        "description": "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111608",
            "name": "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111608",
            "name": "DA5",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111608",
            "name": "DAIIB",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111608",
            "name": "distal arthrogryposis type IIB",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111608",
            "name": "distal arthrogryposis with ophthalmoplegia",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111608",
            "name": "oculomelic amyoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome",
            "description": "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal."
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "distal arthrogryposis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "distal arthrogryposis type IIB",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "distal arthrogryposis with ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "oculomelic amyoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "Arthogryposis with oculomotor limitation and electroretinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "DA5",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis ophthalmoplegia retinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis with oculomotor limitation and electroretinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis, distal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis, distal, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome",
            "description": ""
        },
        {
            "id": "MIM:108145",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108145",
            "name": "Arthrogryposis, distal, 5",
            "description": "Arthrogryposis, distal, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111608"
    ],
    "unlinked_id_list": []
}