Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4024165 Prominent ear helix phenotype Finding Abnormality of the ear 3 3
C0238397 Pulmonary artery stenosis disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 2 2
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 18 25
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 17 17
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 31 34
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19