That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Melanocytic neoplasm | MONDO:0021143 | 78 | |
| Paraganglioma | MONDO:0000448 | 29 | |
| Neuroblastoma | MONDO:0005072 | 15 | |
| Multiple endocrine neoplasia | MONDO:0017169 | 6 | |
| Axenfeld-Rieger syndrome | MONDO:0019187 | 3 | |
| Waardenburg-Shah syndrome | MONDO:0019518 | 3 | |
| Neurofibromatosis type 1 | MONDO:0018975 | 3 | NF1 |
| Craniofacial microsomia | MONDO:0015397 | 2 | |
| CHARGE syndrome | MONDO:0008965 | 1 | |
| DiGeorge syndrome | MONDO:0008564 | ||
| Hirschsprung disease | MONDO:0018309 | ||
| Riley-Day syndrome | MONDO:0009131 | ELP1 | |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | MONDO:0800026 | PHOX2B | |
| Craniofrontonasal syndrome | MONDO:0010570 | EFNB1 | |
| Cutaneous neuroendocrine carcinoma | MONDO:0019210 | ||
| Piebaldism | MONDO:0008244 | KIT |
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