Human Gene Set: HP_TYPIFIED_BY_SOMATIC_MOSAICISM


Standard name HP_TYPIFIED_BY_SOMATIC_MOSAICISM
Systematic name M35295
Brief description Typified by somatic mosaicism
Full description or abstract 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. [https://orcid.org/0000-0002-0736-9199, PMID:12360233]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001442
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001442
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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