Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 34 42
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 14 17
C0393559 Troyer syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 3