{
    "disease_id": "DOID:2120",
    "recommended_name": {
        "id": "DOID:2120",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:2120",
        "name": "focal dermal hypoplasia",
        "description": "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:2120",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2120",
            "name": "FDH",
            "description": ""
        },
        {
            "id": "DOID:2120",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2120",
            "name": "FODH",
            "description": ""
        },
        {
            "id": "DOID:2120",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2120",
            "name": "Goltz syndrome",
            "description": ""
        },
        {
            "id": "DOID:2120",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2120",
            "name": "Goltz-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "focal dermal hypoplasia",
            "description": "Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems."
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "Goltz Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "Goltz-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "FDH",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "focal dermal hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "focal dermal hypoplasia; FDH",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "DHOF",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "Goltz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010592",
            "name": "Fodh",
            "description": ""
        },
        {
            "id": "MIM:305600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305600",
            "name": "Focal dermal hypoplasia",
            "description": "Focal dermal hypoplasia"
        }
    ]
}