Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
C0520947 Clumsiness - motor delay disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of mental health 363
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 242
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 103
C1519353 Skin Papule phenotype Skin and Connective Tissue Diseases Finding 74
C0266491 Neuronal heterotopia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 59
C0152235 Congenital genu recurvatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 23
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23
C0029925 Ovarian Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 13
C0151942 Arterial thrombosis phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of blood and blood-forming tissues 29
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 8
C0040046 Thrombophlebitis disease Cardiovascular Diseases Pathologic Function disease of anatomical entity Abnormality of blood and blood-forming tissues 3
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 469
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 374
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 277
C1854114 Short nose phenotype Finding Abnormality of head or neck 249
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 187
C1836047 Long face phenotype Finding Abnormality of head or neck 175
C0026034 Microstomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 167
C0011334 Dental caries disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 146