Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C0376532 Epilepsy, Rolandic disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 31 75
C4022738 Neurodevelopmental delay phenotype Finding Abnormality of the nervous system 17 24
C0452138 Sensorineural hearing loss, bilateral disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the ear 15 22
C3463992 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 8 30
C0853087 Nail abnormality phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the integument 5 11
C0242422 Parkinsonian Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 5 6
C0241397 Triphalangeal thumb disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; physical disorder Abnormality of limbs; Abnormality of the skeletal system 4 15
C0235942 Abnormality of the skull phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 2 9
C3550704 Abnormality of digit phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 9
C2676254 Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 3
C0795934 Digitorenocerebral Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 11
C3892048 DEAFNESS, AUTOSOMAL DOMINANT 65 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 10
C3809181 Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) phenotype Finding 1 6
C0917800 Epilepsy, Myoclonic, Infantile disease Nervous System Diseases Disease or Syndrome 1 5
C2829265 DEAFNESS, AUTOSOMAL RECESSIVE 86 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 5
C3809173 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 disease Disease or Syndrome disease of anatomical entity 1 5
C1842531 Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 2
C1279412 periodic paralysis (finding) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the nervous system 1 1