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.
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 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: 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: C0238207
Disease: Ectopic kidney
Ectopic kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C0221365
Disease: Double ureter
Double ureter
disease Congenital Abnormality 34 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
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: 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
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: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0426816
Disease: Absence of rib
Absence of rib
phenotype Congenital Abnormality 18 1 0.100 None 0
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: C0745730
Disease: Multiple lipomata
Multiple lipomata
disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 0.100 None 0
Abnormal vertebral segmentation and fusion
disease Anatomical Abnormality 11 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: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum
phenotype Finding 4 0.100 None 0
Abnormality of the wing of the ilium
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4021835
Disease: Sacral lipoma
Sacral lipoma
disease Neoplasms Neoplastic Process 2 0.100 None 0
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 85 28 0.100 None 0
CUI: C2677632
Disease: Hemisacrum
Hemisacrum
disease Anatomical Abnormality 2 0.100 None 0