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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Typified by somatic mosaicism
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Accession:HP:0001442 term browser browse the term
Definition:Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.
Comment:A much lower variant allele fraction (VAF) cutoff would be needed in genomic analysis pipelines as compared with the threshold required for constitutional variants.
Synonyms:exact_synonym: Autosomal dominant somatic cell mutation;   Somatic mosaicism;   Somatic mutation
 alt_id: HP:0001428;   HP:0001444
 xref: UMLS:C1866227


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  Human phenotype 0
    Mode of inheritance 0
      Inheritance qualifier 0
        Typified by somatic mosaicism 0
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