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
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
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
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
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 26
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 15 21
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
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 8 12
C1853241 Flat face phenotype Finding Abnormality of head or neck 6 7
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 6 9
C1854885 Cerebral dysmyelination phenotype Finding Abnormality of the nervous system 5 6
C1867114 Craniofacial disproportion phenotype Finding Abnormality of head or neck 4 5
C1390474 Increased susceptibility to fractures phenotype Finding Abnormality of the skeletal system 4 5
C1855514 Severe failure to thrive phenotype Finding Growth abnormality 4 4
C1855670 Abnormal cornea morphology group Finding Abnormality of the eye 3 4
C1849025 Oval face phenotype Finding Abnormality of head or neck 3 4
C3808249 Abnormality of the optic disc phenotype Finding Abnormality of the eye 2 4