{
    "disease_id": "DOID:0090143", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "skeletal dysplasia with amelogenesis imperfecta and platyspondyly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "Verloes-Bourguignon syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "DASS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "dental anomalies and short stature"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "STHAG6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "amelogenesis imperfecta and platyspondyly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "selective tooth agenesis 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "tooth agenesis, selective, 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "platyspondyly-amelogenesis imperfecta syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "platyspondyly with amelogenesis imperfecta"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "dental anomalies and short stature; DASS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "Verloes Bourguignon syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011018", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011018", 
            "name": "tooth agenesis, selective, 6, formerly"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090143", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090143", 
            "name": "DASS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090143", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090143", 
            "name": "STHAG6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090143", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090143", 
            "name": "dental anomalies and short stature"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090143", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090143", 
            "name": "platyspondyly with amelogenesis imperfecta"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090143", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090143", 
            "name": "selective tooth agenesis 5"
        }, 
        {
            "url": "https://www.omim.org/entry/601216", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:601216", 
            "name": "Dental anomalies and short stature"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090143", 
        "description": "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090143", 
        "name": "brachyolmia-amelogenesis imperfecta syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/601216", 
            "id": "601216", 
            "database": "MIM"
        }
    ]
}