{
    "disease_id": "DOID:14743", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:14743", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14743", 
            "name": "trichorhinophalangeal syndrome type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14743", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14743", 
            "name": "type I trichorhinophalangeal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "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.", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "trichorhinophalangeal syndrome type I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "TRPS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "trichorhinophalangeal dysplasia type I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "trichorhinophalangeal syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "Sugio-Kajii syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "trichorhinophalangeal syndrome, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "Trps 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "trichorhinophalangeal syndrome, type I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "trichorhinophalangeal syndrome, type I; TRPS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "type I trichorhinophalangeal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "Giedion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008596", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008596", 
            "name": "type III trichorhinophalangeal syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/190350", 
            "description": "Tricho-rhino-phalangeal syndrome 1", 
            "resource": "MIM", 
            "id": "MIM:190350", 
            "name": "Tricho-rhino-phalangeal syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14743", 
        "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).", 
        "resource": "Disease Ontology", 
        "id": "DOID:14743", 
        "name": "trichorhinophalangeal syndrome type I"
    }
}