| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0271829 | Pendred's syndrome | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 35 | 142 | |
| C3538946 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 10 | 81 |