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
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 432
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 407
C1861403 Variable expressivity phenotype Finding 319
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 253
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 240
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 221
C1854494 Slow progression phenotype Finding 165
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 164
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
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 123
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 112
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 110
C4551488 Bifid uvula disease Congenital Abnormality Abnormality of head or neck 91
C1840379 Cerebellar vermis hypoplasia phenotype Finding Abnormality of the nervous system 84
C1837098 Easy fatigability phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 69
C4021776 Abnormality of the voice disease Finding Abnormality of the voice 64
C1389113 Generalized amyotrophy disease Disease or Syndrome Abnormality of the musculature 54
C1858025 Spinal rigidity phenotype Finding Abnormality of the skeletal system 53
C0234182 Gowers sign phenotype Finding Abnormality of the musculature 51