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    Disease Ontology Term: neurofibromatosis 1


    DO ID
    DOID:0111253
    Description
    A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2.
    Synonyms
    neurofibromatosis type I, NF1, Peripheral Neurofibromatosis, Recklinghausen's neurofibromatosis, von Recklinghausen Disease
    View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

    Ontology Diagram


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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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