Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
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
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 28 39
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 19 34
C0018681 Headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 19 23
C1838993 Episodic vomiting phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system 10 10
C1839364 Progressive visual loss phenotype Finding Abnormality of the eye 8 11
C4022761 Reduced brain N-acetyl aspartate level by MRS phenotype Finding Abnormality of the nervous system 8 8
C0238651 Ankle clonus phenotype Finding Abnormality of the nervous system; Abnormality of limbs; Abnormality of the skeletal system 5 5
C0018552 Hamartoma disease Neoplasms Neoplastic Process Neoplasm 4 5
C4025573 Increased muscle fatiguability phenotype Finding Abnormality of the musculature 3 3
C0240595 Rotary Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 2 3
C3278975 Attenuation of retinal blood vessels phenotype Finding Abnormality of the eye; Abnormality of the cardiovascular system 2 2
C3151303 Obesity, Hyperphagia, and Developmental Delay disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1 3
C4023470 EEG with continuous slow activity phenotype Finding Abnormality of the nervous system 1 1
C4476723 Anti-multiple nuclear dots antibody positivity phenotype Laboratory or Test Result Abnormality of the immune system 1 1
C4693367 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 disease Disease or Syndrome disease of anatomical entity 1 1