Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4072872 obsolete Rod-cone dystrophy disease Disease or Syndrome 28 41
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
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
C4054546 Melanocortin 4 Receptor Deficiency phenotype Finding 24 28
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 23 42
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1842364 Central hypotonia phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 23 25
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 21 23
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 21 442
C1836150 Gait imbalance phenotype Finding Abnormality of the nervous system 20 24
C1840379 Cerebellar vermis hypoplasia phenotype Finding Abnormality of the nervous system 20 26
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 26
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 19 24
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 19 21
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 19 20
C0855329 Electrocardiogram change phenotype Finding 18 27
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 18 25
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 18 22