{
    "disease_id": "DOID:0111550",
    "recommended_name": {
        "id": "DOID:0111550",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111550",
        "name": "scalp-ear-nipple syndrome",
        "description": "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111550",
            "name": "Finlay-Marks syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111550",
            "name": "SENS",
            "description": ""
        },
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111550",
            "name": "Sen Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111550",
            "name": "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp-ear-nipple syndrome",
            "description": "Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "Sen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp-ear-nipple syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "SENS",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "Finlay-Marks syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp-EAR-nipple syndrome; SENS",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp ear nipple syndrome",
            "description": ""
        },
        {
            "id": "MIM:181270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/181270",
            "name": "Scalp-ear-nipple syndrome",
            "description": "Scalp-ear-nipple syndrome"
        }
    ]
}