{
    "disease_id": "DOID:0111789", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "autosomal recessive Melnick-Needles syndrome (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "Ter Haar syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "megalocornea, multiple skeletal anomalies, and developmental delay"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "Borrone Dermatocardioskeletal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "FRANK-TER Haar syndrome; FTHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "Melnick-Needles syndrome, autosomal recessive, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "Frank Ter Haar syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "Melnick-Needles syndrome, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009579", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009579", 
            "name": "FTHS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111789", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111789", 
            "name": "Borrone dermatocardioskeletal syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111789", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111789", 
            "name": "FTHS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111789", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111789", 
            "name": "Ter Haar syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111789", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111789", 
            "name": "megalocornea, multiple skeletal anomalies, and developmental delay"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111789", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111789", 
            "name": "autosomal recessive Melnick-Needles syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111789", 
        "description": "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111789", 
        "name": "Frank-Ter Haar syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111789#disease-associations", 
            "id": "0111789", 
            "database": "Alliance of Genome Resources"
        }
    ]
}