Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
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
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
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
C1387005 Penis agenesis disease Male Urogenital Diseases Congenital Abnormality 205
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C0235831 Renal Cell Dysplasia disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 58
C0014588 Epispadias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 26
C0422895 Primitive reflex phenotype Finding 14
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
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 414
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 277
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 203
C0026034 Microstomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 167
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 112
C1835884 Triangular face phenotype Finding Abnormality of head or neck 105
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 101
C0005744 Blepharophimosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 93
C4551488 Bifid uvula disease Congenital Abnormality Abnormality of head or neck 91