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: C1838568
Disease: Sacral defect and anterior sacral meningocele
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: 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: 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: C1867776
Disease: Anterior sacral meningocele
Anterior sacral meningocele 		phenotype Finding 2 0.100 None 0
CUI: C2677632
Disease: Hemisacrum
Hemisacrum 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021835
Disease: Sacral lipoma
Sacral lipoma 		disease Neoplasms Neoplastic Process 2 0.100 None 0
CUI: C4023156
Disease: Abnormality of the wing of the ilium
Abnormality of the wing of the ilium 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum 		phenotype Finding 4 0.100 None 0
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
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: C0149770
Disease: Rectal abscess
Rectal abscess 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Pathologic Function 9 0.100 None 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		disease Finding 11 30 0.600 limited 1.000 2 5 2007 2009
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		phenotype Finding 11 0.100 None 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
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
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: C0080274
Disease: Urinary Retention
Urinary Retention 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C1142339
Disease: Intestinal adenoma
Intestinal adenoma 		disease Neoplastic Process 23 0.010 None 1.000 1 2016 2016
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: 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: 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: 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