{
    "disease_id": "DOID:0060608",
    "recommended_name": {
        "id": "DOID:0060608",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060608",
        "name": "microcephalic osteodysplastic primordial dwarfism type I",
        "description": "A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060608",
            "name": "Taybi-Linder syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060608",
            "name": "brachymelic primordial dwarfism",
            "description": ""
        },
        {
            "id": "DOID:0060608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060608",
            "name": "cephaloskeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060608",
            "name": "low-birth-weight dwarfism with skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060608",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060608",
            "name": "osteodysplastic primordial dwarfism type I",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "microcephalic osteodysplastic primordial dwarfism type I",
            "description": "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits."
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "osteodysplastic primordial dwarfism type I",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "Taybi-Linder syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "low-birth-weight dwarfism with skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "cephaloskeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "microcephalic osteodysplastic primordial dwarfism, type I",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "microcephalic osteodysplastic primordial dwarfism, type I; MOPD1",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "Cephaloskeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "MOPD 1",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "microcephalic osteodysplastic primordial dwarfism, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "MOPD1",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "brachymelic primordial dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "osteodysplastic primordial dwarfism, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008871",
            "name": "Brachymelic primordial dwarfism",
            "description": ""
        }
    ]
}