All terms in MONDO
| Label | Id | Description |
|---|---|---|
| neuropathy, hereditary sensory and autonomic, type IId | MONDO_0800304 | |
| Friedreich ataxia with retained reflexes | MONDO_0800301 | |
| Friedreich ataxia | MONDO_0100339 | |
| glycogen storage disease Id | MONDO_0800302 | |
| glycogen storage disease I | MONDO_0002413 | |
| de la Chapelle dysplasia | MONDO_0800307 | |
| skeletal dysplasia | MONDO_0018230 | |
| orotic aciduria without megaloblastic anemia | MONDO_0800308 | |
| orotic aciduria | MONDO_0009797 | |
| myelofibrosis with myeloid metaplasia | MONDO_0800305 | |
| primary myelofibrosis | MONDO_0009692 | |
| epilepsy, progressive myoclonic, 2b | MONDO_0800306 | |
| progressive myoclonus epilepsy | MONDO_0020074 | |
| myoclonic epilepsy, juvenile, 2 | MONDO_0800330 | |
| juvenile myoclonic epilepsy | MONDO_0009696 | |
| hyperglycinemia, transient neonatal | MONDO_0800331 | |
| inborn disorder of amino acid metabolism | MONDO_0004736 | |
| acute tubulointerstitial nephritis | MONDO_0800337 | |
| migraine, familial hemiplegic, 4 | MONDO_0800335 | |
| familial hemiplegic migraine | MONDO_0000700 |