Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C0239479 Round face phenotype Finding Abnormality of head or neck 87
C0426421 Wide nose phenotype Finding Abnormality of head or neck 86
C2674432 Reduced bone mineral density phenotype Finding Abnormality of the skeletal system 75
C0241240 Tall stature phenotype Finding Growth abnormality 69
C4024202 Reduced number of teeth phenotype Finding Abnormality of head or neck 63
C0426891 Broad thumbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 60
C1854418 Biparietal narrowing phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 60
C1837108 Decreased muscle mass phenotype Finding Abnormality of the musculature 55
C1398312 Narrow palate phenotype Finding Abnormality of head or neck 35
C3697248 Short lower third of face phenotype Finding Abnormality of head or neck 31
C0332573 Macule phenotype Finding Abnormality of the integument 29
C4024890 Excessive wrinkled skin phenotype Anatomical Abnormality Abnormality of the integument 25
C0546964 Genu recurvatum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 23
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22
C1836996 Disproportionate tall stature phenotype Finding Growth abnormality 22
C1844809 Thick nasal alae phenotype Finding Abnormality of head or neck 17
C4021977 Visceral angiomatosis disease Disease or Syndrome Neoplasm; Abnormality of the cardiovascular system 17
C4023986 Broad phalanx of the toes phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17
C1969913 Generalized hyperkeratosis phenotype Finding Abnormality of the integument 16
C1263023 Macroorchidism disease Finding Abnormality of the genitourinary system 15
C1839783 Large forehead phenotype Finding Abnormality of head or neck 14
C4023383 Narrow internal auditory canal phenotype Finding Abnormality of the ear 14
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 11
C4021744 Abnormality of the wrist disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10