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: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype Finding 12 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 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: C1862142
Disease: Short 2nd finger
Short 2nd finger 		phenotype Finding 7 0.100 None 0
CUI: C4021465
Disease: Pseudoepiphyses of the 2nd finger
Pseudoepiphyses of the 2nd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C4022107
Disease: Aplasia of the middle phalanges of the toes
Aplasia of the middle phalanges of the toes 		phenotype Finding 2 0.100 None 0
CUI: C4024098
Disease: Aplasia/Hypoplasia of the 1st metacarpal
Aplasia/Hypoplasia of the 1st metacarpal 		phenotype Finding 2 0.100 None 0
CUI: C4024235
Disease: Stippling of the epiphysis of the distal phalanx of the thumb
Stippling of the epiphysis of the distal phalanx of the thumb 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4024283
Disease: Triangular shaped middle phalanx of the 2nd finger
Triangular shaped middle phalanx of the 2nd finger 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4024552
Disease: Triangular shaped middle phalanx of the 5th finger
Triangular shaped middle phalanx of the 5th finger 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype Anatomical Abnormality 14 0.100 None 0
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 22 0.100 None 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype Finding 47 2 0.100 None 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C4021438
Disease: Short distal phalanx of the 2nd finger
Short distal phalanx of the 2nd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021427
Disease: Complete duplication of distal phalanx of the thumb
Complete duplication of distal phalanx of the thumb 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1862144
Disease: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 		phenotype Finding 5 0.100 None 0
CUI: C1862147
Disease: Medially deviated second toe
Medially deviated second toe 		phenotype Finding 3 0.100 None 0
CUI: C1862158
Disease: Terminal symphalangism of hands
Terminal symphalangism of hands 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		phenotype Finding 7 0.100 None 0