Source: ALL
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: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype Finding 65 1 0.100 None 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease Congenital Abnormality 20 1 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		phenotype Finding 39 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C1855480
Disease: Pulmonary lymphangiectasia
Pulmonary lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C1856129
Disease: Thyroid lymphangiectasia
Thyroid lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		phenotype Finding 10 0.100 None 0
CUI: C1856139
Disease: Pleural lymphangiectasia
Pleural lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C1856140
Disease: Pericardial lymphangiectasia
Pericardial lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 2 0.100 None 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 3 0.100 None 0