{
    "disease_id": "DOID:0111158",
    "recommended_name": {
        "id": "DOID:0111158",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111158",
        "name": "SADDAN",
        "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16."
    },
    "synonyms": [
        {
            "id": "DOID:0111158",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111158",
            "name": "SADDAN dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111158",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111158",
            "name": "severe achondroplasia with developmental delay and acanthosis nigricans",
            "description": ""
        },
        {
            "id": "MONDO:0014658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014658",
            "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome",
            "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)."
        },
        {
            "id": "MONDO:0014658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014658",
            "name": "SADDAN",
            "description": ""
        },
        {
            "id": "MONDO:0014658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014658",
            "name": "SADDAN dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014658",
            "name": "severe achondroplasia with developmental delay and acanthosis nigricans",
            "description": ""
        },
        {
            "id": "MONDO:0014658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014658",
            "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans",
            "description": ""
        },
        {
            "id": "MIM:616482",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616482",
            "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans",
            "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans"
        }
    ]
}