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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 78
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 36 46
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 31 38
C4054546 Melanocortin 4 Receptor Deficiency phenotype Finding 24 28
C1859236 Prolonged neonatal jaundice phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the digestive system; Abnormality of the integument 22 14
C0038273 Stereotypic Movement Disorder phenotype Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 21 25
C0520679 Sleep Apnea, Obstructive disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 19 23
C0264303 Laryngomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the respiratory system 16 18
C0401149 Chronic constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 14 15
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 9 11
C0040485 Torticollis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 9 8
C1866934 Reduced tendon reflexes phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 8 8
C4021217 EEG with generalized slow activity phenotype Finding Abnormality of the nervous system 6 6
C0000731 Abdomen distended phenotype Digestive System Diseases Finding Abnormality of the digestive system 6 6
C2712334 Actual Aspiration phenotype Finding Abnormality of the respiratory system 5 8
C0035372 Rett Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of mental health 4 320
C0006325 Bruxism phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 4 6
C1969697 Repetitive compulsive behavior disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 3 4