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: C1836206
Disease: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 3 0.710 None 1.000 2 3 2012 2014
CUI: C1843758
Disease: Camptosynpolydactyly, Complex
Camptosynpolydactyly, Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.600 None 1.000 1 1 2016 2016
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.420 strong 1.000 3 2012 2019
CUI: C1856789
Disease: Femur bifid with monodactylous ectrodactyly
Femur bifid with monodactylous ectrodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.310 None 1.000 1 2014 2014
CUI: C1857344
Disease: Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand-Foot Malformation With Sensorineural Hearing Loss 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 3 1 0.300 strong 1.000 1 2012 2012
CUI: C1861553
Disease: Split-Hand-Foot Malformation With Long Bone Deficiency 1
Split-Hand-Foot Malformation With Long Bone Deficiency 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 36 2 0.130 None 1.000 3 2012 2014
CUI: C0221373
Disease: Claw hand
Claw hand 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 0.110 None 1.000 1 2016 2016
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		phenotype Finding 4 1 0.100 None 0
CUI: C1836213
Disease: Aplasia/Hypoplasia of the hallux
Aplasia/Hypoplasia of the hallux 		phenotype Finding 2 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1836216
Disease: Symphalangism affecting the phalanges of the hallux
Symphalangism affecting the phalanges of the hallux 		phenotype Finding 1 0.100 None 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype Finding 46 7 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 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: C1862152
Disease: Aplasia/Hypoplasia of the middle phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand 		phenotype Finding 7 1 0.100 None 0
CUI: C4025415
Disease: Hand monodactyly
Hand monodactyly 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.100 None 0 3
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease Musculoskeletal Diseases Anatomical Abnormality 40 3 0.100 None 0 3
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4021390
Disease: Symphalangism affecting the phalanges of the hand
Symphalangism affecting the phalanges of the hand 		disease Anatomical Abnormality 13 0.100 None 0