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: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C4476525
Disease: Retrusion of lower jaw
Retrusion of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 160 0.100 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease Eye Diseases Disease or Syndrome 141 2 0.100 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.100 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 194 35 0.100 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
group Musculoskeletal Diseases Anatomical Abnormality 47 2 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 158 0.100 0
CUI: C0576962
Disease: Tooth problem
Tooth problem
phenotype Finding 58 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 49 0.100 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney
phenotype Finding 22 0.100 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 45 2 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype Finding 37 6 0.100 0
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
disease Neoplasms Neoplastic Process 32 3 0.100 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
phenotype Finding 7 0.100 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion
phenotype Finding 5 1 0.100 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 79 5 0.100 0
CUI: C1837760
Disease: Prominent eyes
Prominent eyes
phenotype Finding 136 0.100 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 104 0.100 0
Short distal phalanx of the 5th finger
phenotype Finding 4 0.100 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 86 4 0.100 0
CUI: C1834167
Disease: Asymmetric overgrowth
Asymmetric overgrowth
phenotype Finding 10 0.100 0