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.
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
disease Disease or Syndrome 1 5 0.600 None 1.000 3 5 2005 2015
Chondrodysplasia, acromesomelic, with genital anomalies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2005 2005
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D
disease Disease or Syndrome 1 3 0.700 strong 1.000 1 3 2015 2015
CUI: C1836187
Disease: Widened proximal tibial metaphyses
Widened proximal tibial metaphyses
phenotype Finding 1 0.100 None 0
Aplasia of the proximal phalanges of the hand
phenotype Finding 1 0.100 None 0
CUI: C1300268
Disease: Brachydactyly syndrome type C
Brachydactyly syndrome type C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2006 2006
CUI: C1855091
Disease: Short proximal phalanx of thumb
Short proximal phalanx of thumb
phenotype Finding 2 0.100 None 0
Short distal phalanx of the 2nd finger
disease Anatomical Abnormality 2 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
Aplasia of the middle phalanges of the toes
phenotype Finding 2 0.100 None 0
Aplasia/Hypoplasia of the 1st metacarpal
phenotype Finding 2 0.100 None 0
Stippling of the epiphysis of the distal phalanx of the thumb
disease Anatomical Abnormality 2 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: C1862147
Disease: Medially deviated second toe
Medially deviated second toe
phenotype Finding 3 0.100 None 0
CUI: C1969397
Disease: Short 2nd metacarpal
Short 2nd metacarpal
phenotype Finding 3 0.100 None 0
Complete duplication of distal phalanx of the thumb
disease Anatomical Abnormality 3 0.100 None 0
Triangular shaped middle phalanx of the 2nd finger
disease Anatomical Abnormality 3 0.100 None 0
Triangular shaped middle phalanx of the 5th finger
disease Anatomical Abnormality 3 0.100 None 0
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.310 None 1.000 2 1 2014 2015
Fibular hypoplasia and complex brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 4 0.400 None 1.000 1 1 2015 2015
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
Acromesomelic dysplasia Hunter-Thompson type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 5 0.340 None 1.000 4 2015 2018
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A
disease Musculoskeletal Diseases Disease or Syndrome 5 12 0.010 None 1.000 1 2006 2006
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
phenotype Finding 5 0.100 None 0
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula
phenotype Finding 5 0.100 None 0