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
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 46 72
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 45 62
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0007758 Cerebellar Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 44 58
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 40 49
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 78
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 59
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
C0037317 Sleep disturbances phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 37 41
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 34 42
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 33 38
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 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
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 30 42