{
    "disease_id": "DOID:0111358",
    "recommended_name": {
        "id": "DOID:0111358",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111358",
        "name": "Floating-Harbor syndrome",
        "description": "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111358",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111358",
            "name": "FLHS",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "floating-Harbor syndrome",
            "description": "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay."
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "Pelletier-Leisti syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "floating-Harbor syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "FLHS",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "floating-HARBOR syndrome; FLHS",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "FHS",
            "description": ""
        },
        {
            "id": "MIM:136140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136140",
            "name": "Floating-Harbor syndrome",
            "description": "Floating-Harbor syndrome"
        }
    ]
}
