All terms in MONDO
| Label | Id | Description |
|---|---|---|
| Reoviridae infectious disease | MONDO_0005939 | |
| unbalanced Robertsonian translocation Down syndrome | MONDO_0700094 | |
| Robertsonian translocation Down syndrome | MONDO_0700082 | |
| ring chromosome disorder | MONDO_0700091 | |
| chromosomal disorder | MONDO_0019040 | |
| epilepsy, familial temporal lobe, 1 | MONDO_0700090 | |
| Autosomal dominant epilepsy with auditory features | MONDO_0010898 | |
| balanced Robertsonian translocation Down syndrome | MONDO_0700093 | |
| neurodevelopmental disorder | MONDO_0700092 | |
| paroxysmal nonkinesigenic dyskinesia | MONDO_0700088 | |
| paroxysmal dyskinesia | MONDO_0015427 | |
| Usher syndrome type 1B | MONDO_0700087 | |
| Usher syndrome type 1 | MONDO_0010168 | |
| paroxysmal nonkinesigenic dyskinesia 1 | MONDO_0700089 | |
| myopathy caused by variation in GMPPB | MONDO_0700084 | |
| myopathy | MONDO_0005336 | |
| qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | MONDO_0016155 | |
| reciprocal translocation down syndrome | MONDO_0700083 | |
| translocation Down syndrome | MONDO_0700128 | |
| pentasomy | MONDO_0700085 |