{
    "disease_id": "DOID:0060342",
    "recommended_name": {
        "id": "DOID:0060342",
        "resource": "Disease Ontology",
        "url": "http://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."
    },
    "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": "acromelic frontonasal dysplasia",
            "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": "AFND",
            "description": ""
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "acromelic frontonasal dysostosis; AFND",
            "description": ""
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "frontonasal dysplasia acromelic",
            "description": ""
        },
        {
            "id": "MONDO:0011359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011359",
            "name": "Toriello syndrome",
            "description": ""
        },
        {
            "id": "MIM:603671",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603671",
            "name": "Acromelic frontonasal dysostosis",
            "description": "Acromelic frontonasal dysostosis"
        }
    ]
}