Disease Index

human disease

Human disease

human disease

human disease

amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes

arteriovenous malformation that is located in the brain

medical condition

cerebral cavernous malformation that has material basis in mutation in the CCM2 gene on chromosome 7p13

human disease

Human disease

human disease

human disease

Human disease

Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome

Human disease

human disease

human disease

human disease

human disease

form of visual impairment caused by a brain problem

inborn error

disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region

human disease

human disease

Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.

human disease

medical condition

human disease

autosomal recessive form of xanthomatosis.

human disease