{
    "disease_id": "DOID:0080050",
    "recommended_name": {
        "id": "DOID:0080050",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080050",
        "name": "acromesomelic dysplasia, Maroteaux type",
        "description": "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments."
    },
    "synonyms": [
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia, Maroteaux type",
            "description": "120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms)."
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia, Maroteaux type; AMDM",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dwarfism Maroteux type",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "St. Helena dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "AMDM",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MIM:602875",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602875",
            "name": "Acromesomelic dysplasia 1",
            "description": "Acromesomelic dysplasia 1"
        }
    ]
}