{
    "disease_id": "DOID:0111683",
    "recommended_name": {
        "id": "DOID:0111683",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111683",
        "name": "neurofibromatosis-Noonan syndrome",
        "description": "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111683",
            "name": "NFNS",
            "description": ""
        },
        {
            "id": "DOID:0111683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111683",
            "name": "Noonan neurofibromatosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111683",
            "name": "neurofibromatosis type 1-Noonan syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111683",
            "name": "neurofibromatosis with Noonan phenotype",
            "description": ""
        },
        {
            "id": "MONDO:0011035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011035",
            "name": "neurofibromatosis-Noonan syndrome",
            "description": "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)."
        },
        {
            "id": "MONDO:0011035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011035",
            "name": "NFNS",
            "description": ""
        },
        {
            "id": "MONDO:0011035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011035",
            "name": "neurofibromatosis type 1-Noonan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011035",
            "name": "neurofibromatosis-Noonan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011035",
            "name": "Noonan neurofibromatosis syndrome",
            "description": ""
        },
        {
            "id": "MIM:601321",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601321",
            "name": "Neurofibromatosis-Noonan syndrome",
            "description": "Neurofibromatosis-Noonan syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111683"
    ],
    "unlinked_id_list": []
}