Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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
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
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
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
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
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
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
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
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0240953 Winged scapula phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature 3 3
C0265695 Congenital fusion of ribs disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the skeletal system 2 2
C0271135 Ectopic pupil disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 1
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
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
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
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
C1401781 Short uvula phenotype Finding Abnormality of head or neck 2 2
C1835884 Triangular face phenotype Finding Abnormality of head or neck 13 16
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C1837108 Decreased muscle mass phenotype Finding Abnormality of the musculature 11 12
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 16 17