Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 16 17
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
C1835884 Triangular face phenotype Finding Abnormality of head or neck 13 16
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
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
C1859717 Depressed nasal tip phenotype Finding Abnormality of head or neck 3 3
C1401781 Short uvula phenotype Finding Abnormality of head or neck 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
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
C1840069 Sandal gap phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6 6
C0240953 Winged scapula phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature 3 3
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
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
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
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C1845447 Cupped ears (finding) phenotype Congenital Abnormality Abnormality of the ear 6 7
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
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
C1849221 Fair hair phenotype Finding Abnormality of the integument 4 5