Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1259
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 942
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 803
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 682
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 556
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C0235946 Cerebral atrophy disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 319
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 271
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 269
C1854114 Short nose phenotype Finding Abnormality of head or neck 265
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 244
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 232
C0027066 Myoclonus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 228
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211
C0424295 Hyperactive behavior phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 178
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 176