310. Congenital anomalies syndrome Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 11 / Drugs : 20 - (DrugBank : 10) / Drug target genes : 3 - Drug target pathways : 7
| Other names | - | ||
|---|---|---|---|
| Disease group | Chromosomal and gene abnormalities | ||
| Related info (in Japanese) | - | ||
| Designated intractable diseases (in Japanese) | Overview, Diagnostic criteria, etc. (docx), Clinical research form (pdf) (1), (2), (3), (4) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 5-31-71. Other disorders of sex development of 46,XY | ||
| 13-1-15. Chromosomal abnormalities; Autosome | |||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 310-1. | Partial trisomy 1q syndrome;Trisomy 1q; | ||
| 310-2. | 9q34 deletion syndrome; | ||
| 310-3. | Cornelia de Lange syndrome;CdLS; | 13-1-7. Cornelia de Lange syndrome | |
| 310-4. | Smith-Lemli-Opitz syndrome;SLO syndrome; | 13-1-28. Smith-Lemli-Opitz syndrome | |