Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1860834 | Infantile muscular hypotonia | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | Abnormality of the musculature | 15 | 24 |