| Label | Id | |
|---|---|---|
| root caused disease or disorder | http://purl.obolibrary.org/obo/MONDO_0005550 | |
| craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature | C535550 | |
| epidermis suprabasal layer epidermolysis bullosa simplex | 15550 | |
| root disease or disorder | http://purl.obolibrary.org/obo/MONDO_0005550 | |
| epidermolysis bullosa simplex of epidermis suprabasal layer | 15550 | |
| hypoplasia of scapula and pelvis, and short stature craniofacial dysmorphism | C535550 | |
| bernard-soulier syndrome, type c | C565550 |