Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0376532 Epilepsy, Rolandic disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 31 75
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 17 21
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
C1835807 Prominent fingertip pads phenotype Finding Abnormality of the integument; Abnormality of limbs; Abnormality of the skeletal system 7 8
C0239842 Tremor of hands phenotype Sign or Symptom Abnormality of the nervous system 6 7
C0234533 Generalized seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 5 6
C4316903 Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 5 5
C4024936 Temporal cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 2 2
C1848137 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of anatomical entity 1 37
C4024965 Frontal cortical atrophy disease Anatomical Abnormality Abnormality of the nervous system 1 1