Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407 35
C4733092 estrogen receptor-negative breast cancer disease Neoplastic Process 356 40
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 295 14
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211 25
C1845977 X- linked recessive phenotype Finding 172 1
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 165 13
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C4551485 Clinodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 148 18
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 139 4
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 130 50
C4732730 Blood spots disease Disease or Syndrome Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 117 0
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 112 2
C1837770 Sparse hair phenotype Finding Abnormality of the integument 112 9
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 91 16
C4553962 Hyperkeratosis, CTCAE phenotype Finding 87 0
C3662483 Allergic sensitization disease Disease or Syndrome 85 26