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: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 12 0.760 None 1.000 7 12 2013 2017
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 3 0.300 None 1.000 1 2015 2015
CUI: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification
phenotype Finding 4 0.100 None 0
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone
phenotype Finding 4 0.100 None 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping
phenotype Finding 5 0.100 None 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly
phenotype Finding 5 0.100 None 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter
phenotype Finding 5 0.100 None 0
CUI: C1838186
Disease: Squared iliac bones
Squared iliac bones
phenotype Finding 6 0.100 None 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae
disease Anatomical Abnormality 8 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping
phenotype Finding 10 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone
phenotype Finding 10 0.100 None 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies
phenotype Finding 11 0.100 None 0
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 12 37 0.020 None 1.000 2 2013 2017
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping
phenotype Finding 13 0.100 None 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle
phenotype Finding 14 0.100 None 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening
phenotype Finding 14 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia
phenotype Finding 14 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia
phenotype Finding 16 0.100 None 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia
phenotype Finding 16 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae
phenotype Finding 18 0.100 None 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof
phenotype Finding 21 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
phenotype Finding 25 2 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
phenotype Finding 26 7 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 42 1 0.100 None 0