Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 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
C1861403 Variable expressivity phenotype Finding 319
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C1387005 Penis agenesis disease Male Urogenital Diseases Congenital Abnormality 205
C1854494 Slow progression phenotype Finding 165
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 144
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117
C0266491 Neuronal heterotopia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 59
C0235831 Renal Cell Dysplasia disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 58
C0242698 Ventricular Dysfunction, Left phenotype Cardiovascular Diseases Pathologic Function 49
C1261470 Congenital meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder 23
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 116
C4551488 Bifid uvula disease Congenital Abnormality Abnormality of head or neck 91
C0432103 Submucous cleft of hard palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of head or neck 49
C0024421 Macroglossia disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 109
C4073139 Abnormality of the tongue muscle phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the musculature 5
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 46
C1858127 Limb-girdle muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 40
C2230441 Triceps weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 18
C1839666 Calf muscle pseudohypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 17