Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 14 19
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 5 8
C0457756 Tooth absent phenotype Finding Abnormality of head or neck 5 6
C4692625 SHWACHMAN-DIAMOND SYNDROME 1 disease Disease or Syndrome syndrome 3 8
C2684859 APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) disease Finding disease of anatomical entity 3 2
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 2 8