{
    "disease_id": "DOID:0080376",
    "recommended_name": {
        "id": "DOID:0080376",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080376",
        "name": "trichorhinophalangeal syndrome type III",
        "description": "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080376",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080376",
            "name": "trichorhinophalangeal syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "obsolete trichorhinophalangeal syndrome, type III",
            "description": "OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature."
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "TRPS 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "TRPS3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "Trichorhinophalangeal Syndrome Type III",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "trichorhinophalangeal syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "trichorhinophalangeal syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008597",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008597",
            "name": "trichorhinophalangeal syndrome, type III",
            "description": ""
        },
        {
            "id": "MIM:190351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/190351",
            "name": "Tricho-rhino-phalangeal syndrome 3",
            "description": "Tricho-rhino-phalangeal syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080376"
    ],
    "unlinked_id_list": []
}