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: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia
phenotype Finding 2 0.100 None 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal
phenotype Anatomical Abnormality 2 0.100 None 0
Early ossification of capital femoral epiphyses
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits
phenotype Finding 2 0.100 None 0
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21
disease Disease or Syndrome 3 26 0.400 None 1.000 4 26 2014 2015
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 3 2 0.300 None 1.000 1 2014 2014
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies
phenotype Finding 3 0.100 None 0
CUI: C2675973
Disease: Open operculum
Open operculum
phenotype Finding 3 0.100 None 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening
phenotype Anatomical Abnormality 3 1 0.100 None 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle
phenotype Finding 4 0.100 None 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis
disease Anatomical Abnormality 4 0.100 None 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis
phenotype Finding 6 2 0.100 None 0
Proximal femoral metaphyseal irregularity
phenotype Finding 7 0.100 None 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
phenotype Finding 7 1 0.100 None 0
Elongated superior cerebellar peduncle
phenotype Finding 7 0.100 None 0
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum
disease Anatomical Abnormality 7 5 0.100 None 0
CUI: C0426808
Disease: Long clavicle
Long clavicle
phenotype Finding 10 0.100 None 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.100 None 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype Finding 11 1 0.100 None 0
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys
phenotype Finding 12 2 0.100 None 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
phenotype Finding 14 1 0.100 None 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype Finding 16 3 0.100 None 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly
disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia
phenotype Anatomical Abnormality 17 3 0.100 None 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna
phenotype Finding 18 4 0.100 None 0