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: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 0.100 None 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		disease Skin and Connective Tissue Diseases Congenital Abnormality 38 3 0.100 None 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 15 0.100 None 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease Congenital Abnormality 33 1 0.100 None 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		phenotype Finding 18 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		phenotype Finding 22 0.100 None 0
CUI: C0410740
Disease: Acquired deformity of finger
Acquired deformity of finger 		disease Musculoskeletal Diseases Acquired Abnormality 5 0.100 None 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.100 None 0