Human Gene Set: HP_CEREBRAL_CAVERNOUS_MALFORMATION


Standard name HP_CEREBRAL_CAVERNOUS_MALFORMATION
Systematic name M46341
Brief description Cerebral cavernous malformation
Full description or abstract A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. [PMID:30909834]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0033522
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0033522
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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 2026.1.Hs: Updated to HPO Release 2026-01-08.


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