CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
C4540497 | RENAL HYPODYSPLASIA/APLASIA 3 | disease | Congenital Abnormality | 1 | 13 | |||
C4231418 | Inner ear malformation | phenotype | Finding | 1 | 2 |