{
    "disease_id": "DOID:0111600",
    "recommended_name": {
        "id": "DOID:0111600",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111600",
        "name": "distal arthrogryposis type 2B1",
        "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5."
    },
    "synonyms": [
        {
            "id": "DOID:0111600",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111600",
            "name": "DA2B1",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "Sheldon-hall syndrome",
            "description": "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "Freeman Sheldon variant",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "arthrogryposis, distal, type 2B; DA2B",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "Freeman-Sheldon syndrome variant",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "arthrogryposis multiplex congenita, distal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "arthrogryposis multiplex congenita distal type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "Freeman Sheldon syndrome, variant",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "DA2B",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "Sheldon-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "arthrogryposis, distal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "distal arthrogryposis type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0011128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011128",
            "name": "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "MIM:601680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601680",
            "name": "Arthrogryposis, distal, 2B1",
            "description": "Arthrogryposis, distal, 2B1"
        }
    ]
}