Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C4022143 Unilateral cleft palate disease Congenital Abnormality Abnormality of head or neck 1 1
C4748741 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION disease Disease or Syndrome 1 1
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
C1401781 Short uvula phenotype Finding Abnormality of head or neck 2 2
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
C0240953 Winged scapula phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature 3 3
C1859717 Depressed nasal tip phenotype Finding Abnormality of head or neck 3 3
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
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
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
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
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
C1855728 Low posterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 10 11
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
C1835884 Triangular face phenotype Finding Abnormality of head or neck 13 16
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