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
C0265223 Cohen syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality 2 291
C2937365 Recurrent aphthous ulcer disease Stomatognathic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of head or neck 1 2