{
    "disease_id": "DOID:0111454", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "Rieger anomaly-partial lipodystrophy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "lipodystrophy, partial, with Rieger anomaly and short stature"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "Aarskog-Ose-Pande syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "lipodystrophy-Rieger anomaly-diabetes syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010026", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010026", 
            "name": "partial lipodystrophy with Rieger anomaly and short stature"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111454", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111454", 
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111454", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111454", 
            "name": "Aarskog-Ose-Pande syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111454", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111454", 
            "name": "Lipodystrophy-Rieger anomaly-diabetes syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111454", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111454", 
            "name": "Rieger anomaly-partial lipodystrophy syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111454", 
        "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 PIK3R1 on chromosome 5q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111454", 
        "name": "SHORT syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111454#disease-associations", 
            "id": "0111454", 
            "database": "Alliance of Genome Resources"
        }
    ]
}