All diseases

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06995 DEE6B encephalopathy, developmental and epileptic, type 6B 619317 AD - - SCN1A - -
00353 DRVT Dravet syndrome 607208 AD 33 31 SCN1A - short stature; microcephaly; neurological abnormalities; seizures; 1y-onset seizures; seizure triggered by fever; psychomotor development stagnates; stagnates.; mental decline; behavioral problems; learning disabilities; MRI global brain atrophy; EEG irregular generalized spike and wave complexes; microcephaly; ataxia; limited knee extension; muscle weakness; dysgenesis hippocampus
02866 FHM3 migraine, hemiplegic, familial, type 3 609634 AD 1 1 SCN1A - -
02510 GEFSP2;FEB3A epilepsy, generalized, with febrile seizures plus, type 2 604403 AD 5 2 SCN1A - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.