Source: INFERRED

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 1458
C0349588 Short stature phenotype Finding Growth abnormality 1122
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 459
C0432072 Dysmorphic features disease Congenital Abnormality 335
C1861403 Variable expressivity phenotype Finding 319
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 228
C1836047 Long face phenotype Finding Abnormality of head or neck 182
C1854494 Slow progression phenotype Finding 165
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117
C0426790 Narrow thorax phenotype Finding Abnormality of the skeletal system 112
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 103
C1837463 Narrow face phenotype Finding Abnormality of head or neck 87
C1839767 Tented upper lip vermilion phenotype Finding Abnormality of head or neck 79
C0456132 Large fontanelle phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 77
C0424551 Impaired exercise tolerance phenotype Finding Abnormality of the musculature 76
C0240953 Winged scapula phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature 73
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 71
C1866141 Foot dorsiflexor weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 70