Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3548801 response to irinotecan phenotype Cell Function 1 7
C0342801 Thiopurine S methyltranferase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome genetic disease; disease of metabolism 3 4
C1857395 De Toni-Debre-Fanconi Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 14 2
C1720816 Endometrial Diseases group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 17 0
C0267557 Secretory diarrhea disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 19 2
C0032197 Platelet Storage Pool Deficiency disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 22 1
C0015624 Fanconi Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 26 4
C0268312 Progressive intrahepatic cholestasis (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 31 10
C4551898 Cholestasis, progressive familial intrahepatic 1 disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 38 19
C0023980 Longevity phenotype Temporal Concept 48 74
C0028860 Oculocerebrorenal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease 54 42
C0079504 Hermanski-Pudlak Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 70 59
C3873567 Peripheral neuropathy due to and following chemotherapy disease Nervous System Diseases Disease or Syndrome 72 10
C0745744 End Stage Liver Disease disease Digestive System Diseases Disease or Syndrome 80 3
C0013221 Drug toxicity group Chemically-Induced Disorders Injury or Poisoning 86 0
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 87 0
C0041755 Adverse reaction to drug group Chemically-Induced Disorders Pathologic Function 87 0
C0521585 Gastrointestinal mucositis disease Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome 98 19
C4725671 High-Risk Neuroblastoma disease Neoplasms Neoplastic Process 99 4
C0149978 Adenocarcinoma of rectum disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 103 1
C0029231 Organic Mental Disorders, Substance-Induced disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0
C4316881 Prescription Drug Abuse phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0
C0013222 Drug Use Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0
C0497169 hiv-infection/aids disease Infections Disease or Syndrome 124 4
C0236969 Substance-Related Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 128 20