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: C2930812
Disease: Generalized elastolysis
Generalized elastolysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 0.100 0
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
phenotype Musculoskeletal Diseases Finding 407 11 0.100 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 403 20 0.100 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles
phenotype Finding 8 1 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae
phenotype Finding 133 0.100 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal
phenotype Finding 5 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C1844690
Disease: Limited knee extension
Limited knee extension
phenotype Finding 3 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 133 0.100 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
phenotype Finding 28 1 0.100 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 32 0.100 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
phenotype Anatomical Abnormality 39 0.100 0
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 limited 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C1856468
Disease: Round, full face
Round, full face
phenotype Finding 65 1 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 232 1 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 399 4 0.100 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension
phenotype Finding 20 0.100 0
CUI: C1866241
Disease: Broad foot
Broad foot
phenotype Finding 29 0.100 0