Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 218 417
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133 505
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 21 21
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 17 579
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 8 120
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 5 35
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 4 39
C0015230 Exanthema phenotype Skin and Connective Tissue Diseases Sign or Symptom disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 4 3
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 3 106
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 3 40
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 3 15
C0023003 Langer-Giedion Syndrome disease Musculoskeletal Diseases Disease or Syndrome genetic disease 3 2
C0432233 Trichorhinophalangeal dysplasia type I disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 1 43
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 39
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 1 25
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 1 16
C1860823 Trichorhinophalangeal Syndrome, Type III disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 1 14
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 12
C0011334 Dental caries disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 0 72
C1844820 Range of joint movement increased phenotype Finding Abnormality of the skeletal system 0 46
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 32
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 31
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 0 29
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 0 26