Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 197 16 0.880 0.875 8 2 2009 2014
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.510 1.000 1 2013 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.310 strong 1.000 1 2012 2012
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 0.310 1.000 1 2012 2012
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
disease Endocrine System Diseases; Male Urogenital Diseases; Neoplasms Neoplastic Process 113 72 0.310 1.000 1 2013 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.300 1 2008 2008
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 limited 0
CUI: C0677483
Disease: Carcinoma testes
Carcinoma testes
disease Neoplastic Process 36 79 0.100 1 1 2013 2013
CUI: C1861316
Disease: Radially deviated wrists
Radially deviated wrists
phenotype Finding 1 0.100 0
CUI: C1833142
Disease: contracture of elbow
contracture of elbow
phenotype Acquired Abnormality 47 0.100 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Sign or Symptom 116 0.100 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 203 6 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 32 0.100 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones
phenotype Finding 5 0.100 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
phenotype Acquired Abnormality 51 4 0.100 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 14 0.100 0
Simple syndactyly of fingers - first web
disease Congenital Abnormality 9 0.100 0
CUI: C1403321
Disease: Ulnohumeral dislocation
Ulnohumeral dislocation
phenotype Injury or Poisoning 35 0.100 0
CUI: C1403299
Disease: Radiohumeral dislocation
Radiohumeral dislocation
phenotype Injury or Poisoning 35 0.100 0
CUI: C1865702
Disease: Joint contracture of the 5th finger
Joint contracture of the 5th finger
phenotype Finding 3 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0
CUI: C4280664
Disease: Big calvaria
Big calvaria
phenotype Finding 212 0.100 0
CUI: C4280538
Disease: Curvature of little finger
Curvature of little finger
phenotype Finding 156 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 0.100 0