Human Phenotype Ontology 
..Starting node
..expandCerebral cavernous malformation (HP:0033522)help
Term ID: 33522
Name: Cerebral cavernous malformation
Synonym:
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.
Comments:
Reference: HP:0033522
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033522HP:0033522Cerebral cavernous malformation0ATP2B1 CL E G H490814OMIM:619910
HP:0033522HP:0033522Cerebral cavernous malformation0CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0033522HP:0033522Cerebral cavernous malformation0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0033522HP:0033522Cerebral cavernous malformation0PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0033522HP:0033522Cerebral cavernous malformation0PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162


Genes (5) :ATP2B1 CCM2 KRIT1 PDCD10 PIK3CA

Diseases (5) :OMIM:619910 OMIM:603284 OMIM:116860 OMIM:603285 OMIM:619538
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.