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: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 28 0.800 None 1.000 21 28 1979 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.300 None 1.000 1 2017 2017
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.300 None 1.000 1 2017 2017
CUI: C1838608
Disease: Radial aplasia
Radial aplasia
disease Disease or Syndrome 4 0.300 strong 0
CUI: C0031575
Disease: Phocomelia
Phocomelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 1 0.130 None 1.000 3 2005 2010
CUI: C1849370
Disease: Tetraphocomelia
Tetraphocomelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.110 None < 0.001 1 2005 2005
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0728895
Disease: Absent finger
Absent finger
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 24 1 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 23 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality
phenotype Digestive System Diseases Finding 14 0.100 None 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist
disease Acquired Abnormality 15 4 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities
phenotype Eye Diseases Finding 46 0.100 None 0
CUI: C0426439
Disease: Narrow nostrils
Narrow nostrils
phenotype Finding 3 0.100 None 0
CUI: C0431289
Disease: Frontal Encephalocele
Frontal Encephalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.100 None 0