|
EDN3 Hirschsprung disease
|
13384 |
|
|
thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type); THMD4
|
http://purl.obolibrary.org/obo/MONDO_0013382 |
|
|
severe combined immunodeficiency with hypereosinophilia
|
11338 |
|
|
epileptic encephalopathy, early infantile, 11
|
13388 |
|
|
epileptic encephalopathy, early infantile, 11; EIEE11
|
http://purl.obolibrary.org/obo/MONDO_0013388 |
|
|
epileptic encephalopathy, early infantile, 12
|
13389 |
|
|
epileptic encephalopathy, early infantile, 12; EIEE12
|
http://purl.obolibrary.org/obo/MONDO_0013389 |
|
|
epileptic encephalopathy, early infantile, 7
|
13387 |
|
|
epileptic encephalopathy, early infantile, 7; EIEE7
|
http://purl.obolibrary.org/obo/MONDO_0013387 |
|
|
epileptic encephalopathy, early infantile, type 11
|
13388 |
|
|
epileptic encephalopathy, early infantile, type 12
|
13389 |
|
|
epileptic encephalopathy, early infantile, type 7
|
13387 |
|
|
KCNQ2-related epileptic encephalopathy
|
13387 |
|
|
KCNQ2-related neonatal epileptic encephalopathy
|
13387 |
|
|
early infantile epileptic encephalopathy 12
|
13389 |
|
