Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0221355 Macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 304
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 299
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 282
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 257
C0017601 Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 255
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 253
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 250
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 240
C0266435 Congenital hypoplasia of penis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 237
C0026106 Mild Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 236
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 231
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 225
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 221
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 220
C0311394 Difficulty walking phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system; Abnormality of the musculature 211
C0151611 Electroencephalogram abnormal phenotype Nervous System Diseases Finding Abnormality of the nervous system 209
C1387005 Penis agenesis disease Male Urogenital Diseases Congenital Abnormality 205
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 204
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 202
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 201
C1848207 Poor speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 200
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 193
C0856975 Autistic behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 192