{
    "disease_id": "DOID:0060614",
    "recommended_name": {
        "id": "DOID:0060614",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060614",
        "name": "ulnar-mammary syndrome",
        "description": "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060614",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060614",
            "name": "Pallister ulnar-mammary syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060614",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060614",
            "name": "Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ulnar-mammary syndrome",
            "description": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described."
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "Pallister ulnar-mammary syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "Schinzel Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "UMS",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ulnar-mammary syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ums",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ulnar-mammary syndrome of Pallister",
            "description": ""
        },
        {
            "id": "MIM:181450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/181450",
            "name": "Ulnar-mammary syndrome",
            "description": "Ulnar-mammary syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060614"
    ],
    "unlinked_id_list": []
}
