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
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 432
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 414
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 277
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 275
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 260
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 203
C0152421 Macrotia disease Congenital Abnormality Abnormality of the ear 176
C0409348 Flexion contracture of proximal interphalangeal joint phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 164
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 164
C0476397 Electroretinogram abnormal phenotype Finding Abnormality of the eye 155
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 155
C1855285 Protruding ear phenotype Finding Abnormality of the ear 149
C4551485 Clinodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 130
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 116
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 112
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C1835884 Triangular face phenotype Finding Abnormality of head or neck 105