{
    "disease_id": "DOID:0112244",
    "recommended_name": {
        "id": "DOID:0112244",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112244",
        "name": "alopecia, neurologic defects, and endocrinopathy syndrome",
        "description": "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112244",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112244",
            "name": "ANE syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112244",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112244",
            "name": "ANES",
            "description": ""
        },
        {
            "id": "DOID:0112244",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112244",
            "name": "alopecia-progressive neurological defect-endocrinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012794",
            "name": "ANE syndrome",
            "description": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis."
        },
        {
            "id": "MONDO:0012794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012794",
            "name": "ANE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012794",
            "name": "alopecia-progressive neurological defect-endocrinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012794",
            "name": "alopecia, neurologic defects, and endocrinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012794",
            "name": "anes",
            "description": ""
        },
        {
            "id": "MIM:612079",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612079",
            "name": "Alopecia, neurologic defects, and endocrinopathy syndrome",
            "description": "Alopecia, neurologic defects, and endocrinopathy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112244"
    ],
    "unlinked_id_list": []
}