{
    "disease_id": "DOID:0060348", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism with short stature, mental retardation and seizures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "Sanjad-Sakati syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "SSS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism-intellectual disability-dysmorphism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism-retardation-dysmorphism syndrome; HRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism with short stature, mental retardation, and seizures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism-short stature-intellectual disability-seizures syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism-retardation-dysmorphism syndrome; HRDS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "HRDS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "hypoparathyroidism with short stature, intellectual disability and seizures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "HRD syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "Richardson-Kirk syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009426", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009426", 
            "name": "HRD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060348", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060348", 
            "name": "hypoparathyroidism with short stature, mental retardation and seizures"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060348", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060348", 
            "name": "HRD syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060348", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060348", 
            "name": "Sanjad-Sakati syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060348", 
        "description": "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060348", 
        "name": "hypoparathyroidism-retardation-dysmorphism syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060348#disease-associations", 
            "id": "0060348", 
            "database": "Alliance of Genome Resources"
        }
    ]
}