{
    "disease_id": "DOID:0111715",
    "recommended_name": {
        "id": "DOID:0111715",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111715",
        "name": "Schaaf-Yang syndrome",
        "description": "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "MAGEL2-related PWLS",
            "description": ""
        },
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "MAGEL2-related Prader-Willi-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "PWLS",
            "description": ""
        },
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "SHFYNG",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "SHFYNG",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Chitayat-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "PWS due to a point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Prader-Willi syndrome due to point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "SHFYNG",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Chitayat-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "PWS due to a point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Prader-Willi syndrome due to point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",
            "description": ""
        },
        {
            "id": "MIM:615547",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615547",
            "name": "Schaaf-Yang syndrome",
            "description": "Schaaf-Yang syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111715"
    ],
    "unlinked_id_list": []
}
