Human Gene Set: HP_DECREASED_CIRCULATING_TERMINAL_COMPLEMENT_COMPONENT_CONCENTRATION


Standard name HP_DECREASED_CIRCULATING_TERMINAL_COMPLEMENT_COMPONENT_CONCENTRATION
Systematic name M41572
Brief description Decreased circulating terminal complement component concentration
Full description or abstract Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. [PMID:26841934]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0033057
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0033057
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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
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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