Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C4553743 Spasticity, CTCAE phenotype Finding 477 0
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
C0677932 Progressive Neoplastic Disease phenotype Neoplastic Process 384 40
C3539781 Progressive cGVHD disease Disease or Syndrome 384 40
C2745900 Promyelocytic leukemia disease Neoplastic Process 255 2
C0221505 Lesion of brain group Disease or Syndrome 188 9
C1845977 X- linked recessive phenotype Finding 172 1
C0234133 Extrapyramidal sign phenotype Sign or Symptom Abnormality of the nervous system 116 7
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 112 2
C4727838 Advanced Melanoma disease Neoplastic Process 73 5
C4054726 Infant Leukemia disease Neoplastic Process 27 0
C1370723 Stromal sarcoma disease Neoplastic Process 7 0
C0948643 Hyperuricosuria phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 3 0
C1291317 Deficiency of transferase group Disease or Syndrome 3 0
C0878672 Increased urinary urate phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2 0
C1959897 Alcohol consumption during pregnancy phenotype Finding 1 0
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0085271 Self-Injurious Behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 91 9
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 773 243
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 512 509