All terms in MONDO
| Label | Id | Description |
|---|---|---|
| bird headed-dwarfism, Montreal type | MONDO_0008870 | |
| Alexander disease type I | MONDO_0018209 | |
| Alexander disease | MONDO_0008752 | |
| childhood-onset autosomal recessive myopathy with external ophthalmoplegia | MONDO_0018206 | |
| myopathy, proximal, and ophthalmoplegia | MONDO_0011577 | |
| hereditary inclusion-body myopathy | MONDO_0016112 | |
| distal monosomy 1q | MONDO_0018205 | |
| chromosome 1q deletion | MONDO_0022756 | |
| neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | MONDO_0018208 | |
| neurofibromatosis type 1 | MONDO_0018975 | |
| 2p13.2 microdeletion syndrome | MONDO_0018207 | |
| partial deletion of the short arm of chromosome 2 | MONDO_0016884 | |
| gonadal germ cell tumor | MONDO_0018202 | |
| germ cell tumor | MONDO_0005040 | |
| extragonadal germ cell tumor | MONDO_0018201 | |
| 20q11.2 microduplication syndrome | MONDO_0018204 | |
| partial trisomy of the long arm of chromosome 20 | MONDO_0016970 | |
| Alsing syndrome | MONDO_0021856 | |
| coloboma | MONDO_0001476 | |
| LMNA-related cardiocutaneous progeria syndrome | MONDO_0018203 |