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
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
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 54 69
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
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C0266470 Cerebellar Hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality Abnormality of the nervous system 18 23
C0013595 Eczema disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 15 18
C1963101 Encephalopathy, CTCAE 3.0 phenotype Finding 14 24
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 14 11
C0020757 Ichthyoses disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 12 13
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 12 11
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 10 13
C0263401 Cutis marmorata disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the integument; Abnormality of the cardiovascular system 10 9