Source: CLINVAR
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C4014419 | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | disease | Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Disease or Syndrome | genetic disease; disease of mental health | 1 | 13 |