{
    "disease_id": "DOID:0111454",
    "recommended_name": {
        "id": "DOID:0111454",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111454",
        "name": "SHORT syndrome",
        "description": "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay",
            "description": ""
        },
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "Aarskog-Ose-Pande syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "Lipodystrophy-Rieger anomaly-diabetes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "Rieger anomaly-partial lipodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "SHORT syndrome",
            "description": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt."
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "Aarskog-Ose-Pande syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "Rieger anomaly-partial lipodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "SHORT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "lipodystrophy-Rieger anomaly-diabetes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "short syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "partial lipodystrophy with Rieger anomaly and short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay",
            "description": ""
        },
        {
            "id": "MIM:269880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269880",
            "name": "SHORT syndrome",
            "description": "SHORT syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111454"
    ],
    "unlinked_id_list": []
}