{
    "disease_id": "DOID:14743",
    "recommended_name": {
        "id": "DOID:14743",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14743",
        "name": "trichorhinophalangeal syndrome type I",
        "description": "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)."
    },
    "synonyms": [
        {
            "id": "DOID:14743",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14743",
            "name": "trichorhinophalangeal syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:14743",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14743",
            "name": "type I trichorhinophalangeal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "trichorhinophalangeal syndrome type I",
            "description": "A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation."
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "trichorhinophalangeal syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "Trps 1",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "trichorhinophalangeal syndrome, type I; TRPS1",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "trichorhinophalangeal dysplasia type I",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "TRPS1",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "Giedion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "trichorhinophalangeal syndrome, type I",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "type I trichorhinophalangeal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "type III trichorhinophalangeal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "trichorhinophalangeal syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008596",
            "name": "Sugio-Kajii syndrome",
            "description": ""
        },
        {
            "id": "MIM:190350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/190350",
            "name": "Tricho-rhino-phalangeal syndrome 1",
            "description": "Tricho-rhino-phalangeal syndrome 1"
        }
    ]
}