Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C1835884 Triangular face phenotype Finding Abnormality of head or neck 13 16
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 11 13
C0542514 Blue sclera phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding Abnormality of the eye 9 13
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 9 9
C0565599 Maternal hypertension disease Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome Abnormality of prenatal development or birth 8 8
C1866134 Wide anterior fontanel phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 6 5
C1837402 Flat occiput phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 5 6
C1866730 Rhizomelia disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality 4 6
C1867114 Craniofacial disproportion phenotype Finding Abnormality of head or neck 4 5
C0004045 Asphyxia Neonatorum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 4 4
C1860245 Cranial asymmetry phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 3 3
C0268360 Osteogenesis imperfecta, recessive perinatal lethal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 2 51
C0016663 Pathological fracture phenotype Wounds and Injuries Pathologic Function Abnormality of the skeletal system 2 2
C1850178 Bowing of limbs due to multiple fractures phenotype Finding Abnormality of the skeletal system 1 1
C0410935 Wide cranial sutures phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 1 1
C4015948 OSTEOGENESIS IMPERFECTA, TYPE III/IV disease Finding 1 1