CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0265660 | Syndactyly of the toes | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | Abnormality of limbs; Abnormality of the skeletal system | 11 | 11 | |
C0221352 | Syndactyly of fingers | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases | Congenital Abnormality | Abnormality of limbs; Abnormality of the skeletal system | 8 | 10 | |
C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
C4024876 | Palmoplantar blistering | phenotype | Finding | Abnormality of the integument; Abnormality of limbs | 2 | 3 |