{
    "disease_id": "DOID:0080050",
    "recommended_name": {
        "id": "DOID:0080050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080050",
        "name": "acromesomelic dysplasia, Maroteaux type",
        "description": "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080050",
            "name": "acromesomelic dysplasia-1",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia 1, Maroteaux type",
            "description": "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >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."
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia 1, Maroteaux 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": "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": "MIM:602875",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602875",
            "name": "Acromesomelic dysplasia 1",
            "description": "Acromesomelic dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080050"
    ],
    "unlinked_id_list": []
}