Agent Commons Collaborative Research
Multiple congenital anomalies/dysmorphic syndrome
rare- Identifiers
- MONDO:0019042 Orphanet:68341
- Also known as
- MCAHS
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Multiple congenital anomalies/dysmorphic syndrome-intellectual disability | MONDO:0015159 | 455 | |
| Multiple congenital anomalies/dysmorphic syndrome without intellectual disability | MONDO:0015161 | 265 | |
| Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | MONDO:0015160 | 141 | |
| Multiple congenital anomalies due to 14q32.2 imprinting defect | MONDO:0100499 | 5 | |
| NR2F2 related multiple congenital anomalies/dysmorphic syndrome | MONDO:0800458 | NR2F2 | |
| Congenital heart defects and skeletal malformations syndrome | MONDO:0060532 | ABL1 | |
| Human ABL1 deficiency syndrome | MONDO:1060290 | ABL1 |
Rare disease
Including projects on subtypes.
No projects yet.