Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
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
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
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
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
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
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
C1835884 Triangular face phenotype Finding Abnormality of head or neck 13 16
C4012968 Mild global developmental delay phenotype Finding Abnormality of the nervous system 11 13
C1837108 Decreased muscle mass phenotype Finding Abnormality of the musculature 11 12
C1855728 Low posterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 10 11
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
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
C1840069 Sandal gap phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6 6
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
C1853638 Broad neck phenotype Finding Abnormality of head or neck 4 10
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
C1849221 Fair hair phenotype Finding Abnormality of the integument 4 5
C1856872 Down-sloping shoulders phenotype Finding Abnormality of the skeletal system 4 4