OBO ID: DOID:0080491
Term Name: cerebral cavernous malformation 1 Search Ontology:
Synonyms:
Definition: A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. https://www.omim.org/entry/116860?search=116860&highlight=116860
References:
Ontology: Human Disease   ( DOID:0080491 )
OTHER cerebral cavernous malformation 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRIT1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Cavernous malformations of CNS and retina 116860
Cerebral cavernous malformations-1 116860
ZEBRAFISH MODELS
Fish Conditions Citations
krit1ty219c/ty219c control Rödel et al., 2019
PHENOTYPE No data available

CITATIONS (1)