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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		phenotype Finding 40 1 0.100 None 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 6 0.100 None 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 3 0.100 None 0
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		disease Finding 23 0.100 None 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		phenotype Finding 7 0.100 None 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 6 0.100 None 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		phenotype Finding 13 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		disease Mental or Behavioral Dysfunction 6 0.100 None 0
CUI: C3551426
Disease: Dystrophic fingernails
Dystrophic fingernails 		phenotype Finding 27 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 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: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0
CUI: C1865903
Disease: Long-tract signs
Long-tract signs 		phenotype Finding 9 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		phenotype Finding 12 0.100 None 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		phenotype Finding 9 1 0.100 None 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		phenotype Finding 10 0.100 None 0