{
    "disease_id": "DOID:4998", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "TRPS 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "chromosome 8Q24.1 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "trichorhinophalangeal syndrome, type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "Giedion-Langer syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "Langer Giedion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "trichorhinophalangeal syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "trichorhinophalangeal syndrome, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "Langer-Giedion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "trichorhinophalangeal dysplasia type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "monosomy 8q24.1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "trichorhinophalangeal syndrome, type II; TRPS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "TRPS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007874", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007874", 
            "name": "deletion 8q24.1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4998", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4998", 
            "name": "Langer-Giedion syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4998", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4998", 
            "name": "Trichorhinophalangeal dysplasia type II"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4998", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4998", 
            "name": "trichorhinophalangeal syndrome type 2"
        }, 
        {
            "url": "https://www.omim.org/entry/150230", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:150230", 
            "name": "Tricho-rhino-phalangeal syndrome 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:4998", 
        "description": "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.", 
        "resource": "Disease Ontology", 
        "id": "DOID:4998", 
        "name": "trichorhinophalangeal syndrome type II"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/150230", 
            "id": "150230", 
            "database": "MIM"
        }
    ]
}