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
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
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
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
C1861866 Aplasia/Hypoplasia of the corpus callosum phenotype Finding Abnormality of the nervous system 7 8
C3150077 Mild short stature phenotype Finding Growth abnormality 7 8
C1855285 Protruding ear phenotype Finding Abnormality of the ear 6 6
C1857278 Partial or complete agenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 5 6
C4021758 Delayed CNS myelination disease Anatomical Abnormality Abnormality of the nervous system 4 4
C4021152 Abnormal CNS myelination disease Anatomical Abnormality Abnormality of the nervous system 3 4
C1857280 Infra-orbital crease phenotype Finding Abnormality of head or neck 1 1
C4025665 Aplasia/Hypoplasia involving the central nervous system phenotype Finding Abnormality of the nervous system 1 1
C1854780 Flaring of rib cage phenotype Finding Abnormality of the skeletal system 1 1
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35
C0878660 Proportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 7 11
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C3150705 FOXG1 syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health 1 46
C0345326 Congenital phimosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 1 1
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 33 38