{
    "disease_id": "DOID:0060342",
    "recommended_name": {
        "id": "DOID:0060342",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060342",
        "name": "acromelic frontonasal dysostosis",
        "description": "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations and that has_material_basis_in heterozygous mutation in the ZSWIM6 gene on chromosome 5q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "acromelic frontonasal dysostosis",
            "description": "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism."
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "AFND",
            "description": ""
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "Toriello syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "acromelic frontonasal dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "frontonasal dysplasia acromelic",
            "description": ""
        },
        {
            "id": "MIM:603671",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603671",
            "name": "Acromelic frontonasal dysostosis",
            "description": "Acromelic frontonasal dysostosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060342"
    ],
    "unlinked_id_list": []
}