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: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 12 0.630 1.000 13 12 2013 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 62 109 0.460 1.000 7 1 2012 2018
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17
disease Disease or Syndrome 1 44 0.300 18 44 1993 2018
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 0.300 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 31 5 0.110 1.000 1 2016 2016
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 2 4 2015 2015
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 153 7 0.100 1 3 2015 2015
CUI: C1866339
Disease: Preaxial Hallucal Polydactyly
Preaxial Hallucal Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.100 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly
phenotype Finding 6 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 232 1 0.100 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI
phenotype Finding 25 2 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 52 6 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells
phenotype Finding 10 0.100 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal
phenotype Finding 1 0.100 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 49 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.100 0
CUI: C4476525
Disease: Retrusion of lower jaw
Retrusion of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476524
Disease: Decreased projection of mandible
Decreased projection of mandible
phenotype Anatomical Abnormality 394 0.100 0