CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1843367 | Poor school performance | phenotype | Finding | Abnormality of the nervous system | 211 | 411 | ||
C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
C4551563 | Microcephaly (physical finding) | phenotype | Finding | Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system | 160 | 246 | ||
C0854723 | Retinal Dystrophies | group | Eye Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the eye | 78 | 218 |
C0575802 | Small hand | phenotype | Finding | Abnormality of limbs; Abnormality of the skeletal system | 24 | 31 | ||
C1848673 | Hypoplastic feet | phenotype | Finding | Abnormality of limbs; Abnormality of the skeletal system | 15 | 21 | ||
C1839364 | Progressive visual loss | phenotype | Finding | Abnormality of the eye | 8 | 11 | ||
C0853697 | Neutrophil count decreased | phenotype | Finding | Abnormality of the immune system; Abnormality of blood and blood-forming tissues | 4 | 5 | ||
C2937365 | Recurrent aphthous ulcer | disease | Stomatognathic Diseases | Disease or Syndrome | Abnormality of the immune system; Abnormality of head or neck | 1 | 2 |