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: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 0.100 None 0
CUI: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears 		phenotype Finding 4 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 3 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		phenotype Finding 3 1 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease Anatomical Abnormality 40 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0