{
    "disease_id": "DOID:0050814",
    "recommended_name": {
        "id": "DOID:0050814",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050814",
        "name": "temtamy preaxial brachydactyly syndrome",
        "description": "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050814",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050814",
            "name": "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "temtamy preaxial brachydactyly syndrome",
            "description": "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "preaxial brachydactyly syndrome, TEMTAMY type",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "preaxial brachydactyly syndrome, Temtamy type",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "TEMTAMY preaxial brachydactyly syndrome; TPBS",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "TPBS",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "temtamy preaxial brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies",
            "description": ""
        },
        {
            "id": "MIM:605282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605282",
            "name": "Temtamy preaxial brachydactyly syndrome",
            "description": "Temtamy preaxial brachydactyly syndrome"
        }
    ]
}