Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 2152 553
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1112 395
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 850 135
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429 29
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 285 44
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282 16
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 271 106
C0015230 Exanthema phenotype Skin and Connective Tissue Diseases Sign or Symptom disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 251 14
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 244 40
C0235833 Congenital diaphragmatic hernia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of connective tissue; Abnormality of the musculature 239 31
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 224 15
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211 25
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 210 32
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 190 12
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 138 26
C0024796 Marfan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 130 1012
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 108 31
C1142533 Smooth philtrum phenotype Finding Abnormality of head or neck 105 10
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 59 442
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 49 19
C1858556 OVERLAP CONNECTIVE TISSUE DISEASE disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31
C0018808 Heart murmur phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the cardiovascular system 31 10
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 27 17