Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 2 8
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
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
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
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0349588 Short stature phenotype Finding Growth abnormality 190 292