Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1346
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 374
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 291
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 277
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 260
C1854114 Short nose phenotype Finding Abnormality of head or neck 249
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 187
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 179
C0152421 Macrotia disease Congenital Abnormality Abnormality of the ear 176
C1836047 Long face phenotype Finding Abnormality of head or neck 175
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 142
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 125
C3805574 Increased fracture rate phenotype Finding Abnormality of the skeletal system 123
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 112
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 110
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 109
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 90