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: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula 		phenotype Finding 5 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1860606
Disease: Short proximal phalanx of finger
Short proximal phalanx of finger 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia 		phenotype Finding 17 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1848453
Disease: Poor motor coordination
Poor motor coordination 		phenotype Finding 6 1 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 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
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: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype Finding 47 2 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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 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: C4021465
Disease: Pseudoepiphyses of the 2nd finger
Pseudoepiphyses of the 2nd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype Finding 23 0.100 None 0