| Label | Id | |
|---|---|---|
| cone-Rod dystrophy type 12 | http://purl.obolibrary.org/obo/MONDO_0012983 | |
| spinocerebellar ataxia type 29 | 7298 | |
| hereditary spherocytosis type 4 | 12981 | |
| hereditary spherocytosis type 5 | 12985 | |
| episodic ataxia type 6 | 12982 | |
| episodic ataxia, type 6 | 12982 | |
| episodic ataxia, type 6; EA6 | http://purl.obolibrary.org/obo/MONDO_0012982 | |
| obsolete rare urticaria | 19298.0 | |
| stenosed aortic valve | 42981 | |
| congenital mitral valve insufficiency | 1298 | |
| HD- Westphal variant | 42980 | |
| schizophrenia 8 with or without an affective disorder | 11298 | |
| GATA2 deficiency with susceptibility to MDS/AML | 42982 | |
| giant kidney worm disease | 298 |