{
    "disease_id": "DOID:0080328",
    "recommended_name": {
        "id": "DOID:0080328",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080328",
        "name": "Culler-Jones syndrome",
        "description": "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity."
    },
    "synonyms": [
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome",
            "description": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination."
        },
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "CJS",
            "description": ""
        },
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "Culler-Jones syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014369",
            "name": "Pallister-Hall syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:615849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615849",
            "name": "Culler-Jones syndrome",
            "description": "Culler-Jones syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080328"
    ],
    "unlinked_id_list": []
}