| Label | Id | |
|---|---|---|
| partial deletion chromosome 15q | C538038 | |
| immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | http://purl.obolibrary.org/obo/MONDO_0018038 | |
| obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | 18038.0 | |
| prickle1-related progressive myoclonic epilepsy with ataxia | C580388 | |
| epilepsy, progressive myoclonic, 1b | C580388 | |
| prickle1-related progressive myoclonus epilepsy with ataxia | C580388 | |
| chromosome 15q, partial deletion | C538038 |