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: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 9 11 0.780 None 1.000 11 11 2006 2019
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 13 0.710 None 1.000 4 5 2006 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.420 None 1.000 4 2006 2016
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2006 2006
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2006 2006
Congenital Myasthenic Syndromes, Presynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2006 2006
Myasthenic Syndromes, Congenital, Slow Channel
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2006 2006
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.300 None 1.000 1 2006 2006
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.110 None 1.000 1 2012 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 5 1 2006 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 5 1 2006 2016
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
group Eye Diseases Disease or Syndrome 71 75 0.100 None 1.000 1 1 2013 2013
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 0.100 None 1.000 1 1 2013 2013
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation
disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
Increased susceptibility to fractures
phenotype Finding 42 5 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 71 13 0.100 None 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue
phenotype Finding 25 2 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 13 0.100 None 0