Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1846435 Disproportionate short-trunk short stature phenotype Finding Abnormality of the skeletal system; Growth abnormality 1 2
C1389018 Atrioventricular Septal Defect disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 6 7
C0017668 Focal glomerulosclerosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 6 7
C0403397 Steroid-resistant nephrotic syndrome disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 4 7
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C2677180 Congenital microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 15 28
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
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