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
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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
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
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C0948163 Leukoaraiosis phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 21 24
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 26
C1843156 Progressive sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 17 18
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 15 21
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 11 13
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 10 13
C0152423 Congenital small ears disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 9 11
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11