Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 496
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 260
C0037763 Spasm phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 131
C0746674 Generalized muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 117
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117
C0349506 Photosensitivity of skin phenotype Skin and Connective Tissue Diseases Pathologic Function disease of anatomical entity Abnormality of the integument 91
C1861975 Cafe au lait spots, multiple disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 59
C0009363 Congenital ocular coloboma (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 57
C1842774 Hypermelanotic macule phenotype Finding Abnormality of the integument 57
C0016689 Freckles phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 38
C0206160 Reticulocytosis phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of blood and blood-forming tissues 38
C0020461 Hyperkalemia phenotype Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis 29
C0239842 Tremor of hands phenotype Sign or Symptom Abnormality of the nervous system 23
C0272048 stomatocytic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome 12
C0677598 Stomatocytosis Result phenotype Laboratory or Test Result Abnormality of blood and blood-forming tissues 12
C0302845 MCV - raised phenotype Finding Abnormality of blood and blood-forming tissues 11
C0030443 Familial Periodic Paralysis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 6
C1279412 periodic paralysis (finding) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the nervous system 6
C3806178 Spotty hypopigmentation phenotype Finding Abnormality of the integument 5
C1859495 Episodic hemolytic anemia phenotype Hemic and Lymphatic Diseases Finding Abnormality of blood and blood-forming tissues 3