{
    "disease_id": "DOID:0060609",
    "recommended_name": {
        "id": "DOID:0060609",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060609",
        "name": "microcephalic osteodysplastic primordial dwarfism type II",
        "description": "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly."
    },
    "synonyms": [
        {
            "id": "DOID:0060609",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060609",
            "name": "osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "DOID:0060609",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060609",
            "name": "Majewski osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism type II",
            "description": "'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'"
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism, type II; MOPD2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "Mopd 2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "MOPD2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "MOPD II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "osteodysplastic primordial dwarfism, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "osteodysplastic primordial dwarfism type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "Majewski osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "MOPD type II",
            "description": ""
        },
        {
            "id": "MIM:210720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210720",
            "name": "Microcephalic osteodysplastic primordial dwarfism 2",
            "description": "Microcephalic osteodysplastic primordial dwarfism 2"
        }
    ]
}