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: C0344490
Disease: Sacral agenesis
Sacral agenesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.700 limited 1.000 1 2007 2007
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.600 limited 1.000 10 5 2007 2017
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease Finding 11 30 0.600 limited 1.000 2 5 2007 2009
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 12 1 0.600 limited 1.000 1 1 2007 2007
Sacral defect and anterior sacral meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 1 0.600 limited 1.000 1 1 2007 2007
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.500 limited 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.310 None 1.000 3 2007 2014
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 1.000 2 2007 2009
CUI: C0702169
Disease: Acrania
Acrania
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 2 2007 2009
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.300 None 1.000 2 2007 2009
Spina bifida aperta of cervical spine
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.300 None 1.000 2 2007 2009
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 2 2007 2009
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 2 2007 2009
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 2 2007 2009
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 2 2007 2009
CUI: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome
disease Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C0431415
Disease: Lumbosacral agenesis
Lumbosacral agenesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 2 0.300 None 0
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.110 None 1.000 1 2012 2012
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0
CUI: C0221365
Disease: Double ureter
Double ureter
disease Congenital Abnormality 34 0.100 None 0
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.100 None 0