Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 225
C4021527 Abdominal wall muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 9
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C4025715 Abnormal large intestine morphology disease Anatomical Abnormality Abnormality of the digestive system 2
C0685695 Abnormal lung lobation disease Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 32
C1859347 Abnormal subcutaneous fat tissue distribution phenotype Finding Abnormality of the integument; Abnormality of connective tissue 7
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 90
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 42
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 39
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 11
C4025822 Abnormality of the parathyroid gland disease Anatomical Abnormality Abnormality of the endocrine system 2
C4025896 Abnormality of the penis disease Anatomical Abnormality Abnormality of the genitourinary system 8
C0241657 Abnormality of the vasculature group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 2
C4021744 Abnormality of the wrist disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23
C0001202 Acrokeratosis disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 2
C0234376 Action Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 80
C1868071 Adenomatous colonic polyposis phenotype Digestive System Diseases; Neoplasms Finding Abnormality of the digestive system; Neoplasm 13
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 33
C0002982 Angioid Streaks disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 10
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0003486 Aortic Aneurysm disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 54
C0151942 Arterial thrombosis phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of blood and blood-forming tissues 29