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: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping
phenotype Finding 5 0.100 None 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof
phenotype Finding 21 0.100 None 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia
phenotype Finding 16 0.100 None 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies
phenotype Finding 11 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone
phenotype Finding 10 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
phenotype Finding 26 7 0.100 None 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease Congenital Abnormality 57 6 0.100 None 0
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone
phenotype Finding 4 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae
disease Anatomical Abnormality 8 0.100 None 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter
phenotype Finding 5 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia
phenotype Finding 14 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
phenotype Finding 25 2 0.100 None 0
CUI: C1838186
Disease: Squared iliac bones
Squared iliac bones
phenotype Finding 6 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping
phenotype Finding 10 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae
phenotype Finding 18 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification
phenotype Finding 4 0.100 None 0