Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4025752 Abnormal cardiac ventricle morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 1
C0685732 Congenital dilatation of pulmonary artery disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 1
C0428851 Dilatation of pulmonary artery, unspecified disease Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 1
C0267716 Incisional hernia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the digestive system; Abnormality of connective tissue 1
C3805726 Medial rotation of the medial malleolus phenotype Musculoskeletal Diseases Finding Abnormality of limbs 1
C1835130 Premature calcification of mitral annulus phenotype Finding Abnormality of the skeletal system; Abnormality of the cardiovascular system 1
C0476369 Echocardiogram abnormal phenotype Finding Abnormality of the cardiovascular system 2
C3276324 Fifth metacarpal with ulnar notch phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C4022729 Increased arm span phenotype Finding Abnormality of limbs 2
C1835117 Increased axial length of the globe phenotype Finding Abnormality of the eye 2
C0265646 Talipes Calcaneovarus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 2
C4021391 Broad phalanges of the hand disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C0424693 Broad skull phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 3
C4024166 Crumpled ear disease Finding Abnormality of the ear 3
C1562061 Microspherophakia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome Abnormality of the eye 3
C0423320 Iridodonesis disease Eye Diseases Disease or Syndrome Abnormality of the eye 4
C1835121 Premature osteoarthritis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 4
C3276815 Stiff skin phenotype Finding Abnormality of the integument 6
C1842231 Broad metatarsal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 7
C0409495 Protrusio acetabuli disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10
C0038016 Spondylolisthesis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 11
C1842229 Broad metacarpals phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 12
C0009451 Communicating Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 12
C0878660 Proportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 12
C0040962 Tricuspid Valve Prolapse disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 12