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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C3552526
Disease: Metaphyseal sclerosis
Metaphyseal sclerosis 		phenotype Finding 7 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.100 None 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		phenotype Finding 3 0.100 None 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		phenotype Finding 7 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype Finding 25 0.100 None 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		phenotype Finding 8 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: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype Finding 68 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype Finding 76 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0