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    Disease Ontology Term: microcephalic osteodysplastic primordial dwarfism type II


    DO ID
    DOID:0060609
    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
    Majewski osteodysplastic primordial dwarfism type II, osteodysplastic primordial dwarfism type II
    View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

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    Evidence ID Analyze ID Gene Gene Systematic Name Disease Ontology Term Disease Ontology Term ID Qualifier Evidence Method Source Assigned On Reference
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    Evidence ID Analyze ID Gene Gene Systematic Name Disease Ontology Term Disease Ontology Term ID Qualifier Evidence Method Source Assigned On Reference
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