Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 1064 27
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 410 0
C0024523 Malabsorption Syndrome group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0
C1963165 Malabsorption, CTCAE phenotype Finding 175 0
C1963167 Memory Impairment, CTCAE 3.0 phenotype Finding 109 2
C4553765 Memory Impairment, CTCAE 5.0 phenotype Finding 108 0
C4521256 Glomerulopathy Assessment phenotype Diagnostic Procedure 84 0
C0162671 MELAS Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 80 53
C0162672 MERRF Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 51 13
C4022012 Death in early adulthood phenotype Finding 46 2
C1857332 Deafness, Sensorineural, Autosomal-Mitochondrial Type phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0
C3151970 MERRF/MELAS OVERLAP SYNDROME disease Disease or Syndrome 5 5
C4016611 PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS disease Finding 1 1
C0011334 Dental caries disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 330 126
C0376480 Gingival Overgrowth phenotype Stomatognathic Diseases Finding disease of anatomical entity Abnormality of head or neck 100 5
C0424448 Mask-like facies phenotype Nervous System Diseases Finding Abnormality of head or neck 64 2
C0015967 Fever phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of metabolism/homeostasis 1021 66
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 228 43
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 209 21
C1836440 Increased serum lactate phenotype Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis 169 2
C4021734 Abnormality of mitochondrial metabolism phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 21 3
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 3134 2672
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 1675 954