Source: CLINVAR

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