{
    "disease_id": "DOID:0050675",
    "recommended_name": {
        "id": "DOID:0050675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050675",
        "name": "Birk-Barel syndrome",
        "description": "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0050675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050675",
            "name": "Birk-Barel mental retardation dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk-Barel syndrome",
            "description": "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)."
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "BIRK-Barel intellectual disability dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "BIRK-Barel mental retardation dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk-Barel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "KCNK9 Imprinting Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "intellectual disability-hypotonia-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk Barel intellectual disability dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk Barel mental retardation dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "mental retardation with hypotonia and Facial Dysmorphism",
            "description": ""
        },
        {
            "id": "MIM:612292",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612292",
            "name": "Birk-Barel syndrome",
            "description": "Birk-Barel syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050675"
    ],
    "unlinked_id_list": []
}