Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Cerebral cavernous malformation
go back to main search page
Accession:HP:0033522 term browser browse the term
Definition: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.
Comment:Cerebral cavernous malformation (CCMs) have been reported to be the second most common vascular malformation of the central nervous system after developmental venous anomalies (DVA). The majority of CCM cases comprises a single lesion with or without associated DVA. These are called sporadic CCMs and are often asymptomatic and nonhereditary. The other type, called hereditary or familial CCM (FCCM), is due to autosomal dominant inherited genetic mutation, associated with multiple lesions. CCM can be found at multiple locations in the central nervous system with supratentorial lesions being more common than the infratentorial lesions.



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormality of the vasculature 0
          Abnormal vascular morphology 0
            Abnormal cerebral vascular morphology 0
              Cerebral cavernous malformation 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormality of the vasculature 0
          Vascular neoplasm 0
            Hemangioma 0
              Cavernous hemangioma 0
                Cerebral cavernous malformation 0
paths to the root