Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 850 135
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 490 167
C1262477 Weight decreased phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 271 3
C0162298 Joint stiffness phenotype Musculoskeletal Diseases Sign or Symptom Abnormality of the skeletal system 163 14
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 149 6
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 138 26
C0024796 Marfan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 130 1012
C0026267 Mitral Valve Prolapse Syndrome disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 111 29
C0003706 Arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality 102 25
C0026266 Mitral Valve Insufficiency phenotype Cardiovascular Diseases Pathologic Function disease of anatomical entity Abnormality of the cardiovascular system 94 11
C0040961 Tricuspid Valve Insufficiency disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 60 5
C1836996 Disproportionate tall stature phenotype Finding Growth abnormality 30 17
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C0040962 Tricuspid Valve Prolapse disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 13 4