Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 37 43
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 18
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 16 17
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 15 26
C0685409 Congenital Camptodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 7 9
C1845447 Cupped ears (finding) phenotype Congenital Abnormality Abnormality of the ear 6 7
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 5 6
C0152438 Sprengel deformity disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality genetic disease; disease of anatomical entity; physical disorder Abnormality of the skeletal system 2 3
C0265695 Congenital fusion of ribs disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the skeletal system 2 2
C0685894 Congenital absence of thymus disease Immune System Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system 2 2
C0392006 Unilateral cleft lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 1 1
C4022143 Unilateral cleft palate disease Congenital Abnormality Abnormality of head or neck 1 1
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0022738 Klippel-Feil Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity; syndrome; physical disorder Abnormality of the skeletal system 4 5
C0040147 Thyroiditis disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system; Abnormality of the immune system 3 3
C0271135 Ectopic pupil disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 1
C4748741 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION disease Disease or Syndrome 1 1
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 16 17
C1835884 Triangular face phenotype Finding Abnormality of head or neck 13 16
C1837108 Decreased muscle mass phenotype Finding Abnormality of the musculature 11 12
C4012968 Mild global developmental delay phenotype Finding Abnormality of the nervous system 11 13