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: 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: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0 4
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C1854934
Disease: Progressive alveolar ridge hypertropy
Progressive alveolar ridge hypertropy 		phenotype Finding 1 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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		disease Anatomical Abnormality 3 2 0.100 None 0 1
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality 13 0.100 None 0
CUI: C4023009
Disease: Constrictive median neuropathy
Constrictive median neuropathy 		disease Nervous System Diseases Anatomical Abnormality 8 1 0.100 None 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		phenotype Finding 8 2 0.100 None 0
CUI: C4025256
Disease: Arthralgia/arthritis
Arthralgia/arthritis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 1 4 0.100 None 0 4
CUI: C4025401
Disease: Irregular carpal bones
Irregular carpal bones 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025599
Disease: Increased serum iduronate sulfatase activity
Increased serum iduronate sulfatase activity 		phenotype Finding 2 0.100 None 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		disease Anatomical Abnormality 16 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C2673361
Disease: Increased serum beta-hexosaminidase
Increased serum beta-hexosaminidase 		phenotype Finding 2 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C1854940
Disease: Lower thoracic interpediculate narrowness
Lower thoracic interpediculate narrowness 		phenotype Finding 1 0.100 None 0
CUI: C1854941
Disease: Beaking of vertebral bodies T12-L3
Beaking of vertebral bodies T12-L3 		phenotype Finding 1 0.100 None 0