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
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
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 45 62
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 36 46
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 40
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C1844820 Range of joint movement increased phenotype Finding Abnormality of the skeletal system 30 46
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 30 32
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31