Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0270612 Leukoencephalopathy group Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 81
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 76
C0033975 Psychotic Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 70
C3463824 MYELODYSPLASTIC SYNDROME group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 68
C0268731 Renal glomerular disease group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 64
C0162670 Mitochondrial Myopathies group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 63
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 55
C0003635 Apraxias group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 54
C0018798 Congenital Heart Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 54
C0018816 Heart Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 52
C0019158 Hepatitis group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 51
C0029132 Disorder of the optic nerve group Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 51
C0016506 Foot Deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 50
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 50
C0032227 Pleural effusion disorder group Respiratory Tract Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the respiratory system 50
C3887875 Visual field defects group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 46
C0600260 Lung Diseases, Obstructive group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 45
C0022680 Polycystic Kidney Diseases group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the genitourinary system 43
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 43
C0018564 Hand deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 42
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 42
C0023015 Language Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 39
C0037268 Skin Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 38
C0037286 Skin Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 36
C0151514 Atrophic condition of skin group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 36