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
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43 49
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
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
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 26 32
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24 31
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 24 25
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C1845847 Coarse facial features phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 20 33
C0431447 Synophrys disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 19 23
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 15 21
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17
C1836543 Thick vermilion border phenotype Finding Abnormality of head or neck 12 15
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 11 13
C4022735 Cerebral white matter atrophy disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the nervous system 10 11
C1853487 Thick eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 9 13
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
C0221352 Syndactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 8 10
C4022761 Reduced brain N-acetyl aspartate level by MRS phenotype Finding Abnormality of the nervous system 8 8